Incidental Mutation 'R2020:Chd7'
| ID |
223787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd7
|
| Ensembl Gene |
ENSMUSG00000041235 |
| Gene Name |
chromodomain helicase DNA binding protein 7 |
| Synonyms |
Whi, Dz, Cyn, GENA 47, Cycn, Lda, Flo, Obt, Edy, A730019I05Rik, Todo, GENA 60, WBE1, Gena 52, Mt |
| MMRRC Submission |
040029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R2020 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
8690406-8867659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8855226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 2152
(V2152I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039267]
[ENSMUST00000051558]
[ENSMUST00000170391]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039267
AA Change: V2152I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043903
Gene: ENSMUSG00000041235
AA Change: V2152I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
768 |
N/A |
INTRINSIC |
|
CHROMO
|
789 |
854 |
2.54e-9 |
SMART |
|
CHROMO
|
870 |
927 |
2.94e-5 |
SMART |
|
low complexity region
|
928 |
939 |
N/A |
INTRINSIC |
|
DEXDc
|
954 |
1155 |
9.64e-38 |
SMART |
|
HELICc
|
1310 |
1394 |
1.67e-23 |
SMART |
|
Blast:DEXDc
|
1608 |
1653 |
8e-16 |
BLAST |
|
low complexity region
|
1728 |
1739 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1774 |
1825 |
1.31e-5 |
PROSPERO |
|
low complexity region
|
1831 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1898 |
1906 |
N/A |
INTRINSIC |
|
low complexity region
|
1929 |
1947 |
N/A |
INTRINSIC |
|
SANT
|
1952 |
2011 |
9.31e-1 |
SMART |
|
internal_repeat_2
|
2079 |
2126 |
1.31e-5 |
PROSPERO |
|
low complexity region
|
2173 |
2195 |
N/A |
INTRINSIC |
|
low complexity region
|
2218 |
2244 |
N/A |
INTRINSIC |
|
low complexity region
|
2387 |
2407 |
N/A |
INTRINSIC |
|
low complexity region
|
2437 |
2452 |
N/A |
INTRINSIC |
|
BRK
|
2553 |
2602 |
6.57e-23 |
SMART |
|
BRK
|
2631 |
2675 |
3.77e-23 |
SMART |
|
low complexity region
|
2715 |
2725 |
N/A |
INTRINSIC |
|
low complexity region
|
2746 |
2758 |
N/A |
INTRINSIC |
|
low complexity region
|
2769 |
2778 |
N/A |
INTRINSIC |
|
low complexity region
|
2785 |
2796 |
N/A |
INTRINSIC |
|
low complexity region
|
2810 |
2821 |
N/A |
INTRINSIC |
|
low complexity region
|
2897 |
2916 |
N/A |
INTRINSIC |
|
low complexity region
|
2967 |
2980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051558
AA Change: V2152I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000059079
Gene: ENSMUSG00000041235
AA Change: V2152I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
595 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
721 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
735 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
768 |
N/A |
INTRINSIC |
|
CHROMO
|
789 |
854 |
2.54e-9 |
SMART |
|
CHROMO
|
870 |
927 |
2.94e-5 |
SMART |
|
low complexity region
|
928 |
939 |
N/A |
INTRINSIC |
|
DEXDc
|
954 |
1155 |
9.64e-38 |
SMART |
|
HELICc
|
1310 |
1394 |
1.67e-23 |
SMART |
|
Blast:DEXDc
|
1608 |
1653 |
8e-16 |
BLAST |
|
low complexity region
|
1728 |
1739 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1774 |
1825 |
1.31e-5 |
PROSPERO |
|
low complexity region
|
1831 |
1846 |
N/A |
INTRINSIC |
|
low complexity region
|
1898 |
1906 |
N/A |
INTRINSIC |
|
low complexity region
|
1929 |
1947 |
N/A |
INTRINSIC |
|
SANT
|
1952 |
2011 |
9.31e-1 |
SMART |
|
internal_repeat_2
|
2079 |
2126 |
1.31e-5 |
PROSPERO |
|
low complexity region
|
2173 |
2195 |
N/A |
INTRINSIC |
|
low complexity region
|
2218 |
2244 |
N/A |
INTRINSIC |
|
low complexity region
|
2387 |
2407 |
N/A |
INTRINSIC |
|
low complexity region
|
2437 |
2452 |
N/A |
INTRINSIC |
|
BRK
|
2553 |
2602 |
6.57e-23 |
SMART |
|
BRK
|
2631 |
2675 |
3.77e-23 |
SMART |
|
low complexity region
|
2715 |
2725 |
N/A |
INTRINSIC |
|
low complexity region
|
2746 |
2758 |
N/A |
INTRINSIC |
|
low complexity region
|
2769 |
2778 |
N/A |
INTRINSIC |
|
low complexity region
|
2785 |
2796 |
N/A |
INTRINSIC |
|
low complexity region
|
2810 |
2821 |
N/A |
INTRINSIC |
|
low complexity region
|
2897 |
2916 |
N/A |
INTRINSIC |
|
low complexity region
|
2967 |
2980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170391
|
| SMART Domains |
Protein: ENSMUSP00000127007
Gene: ENSMUSG00000041235
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
535 |
N/A |
INTRINSIC |
|
BRK
|
586 |
630 |
3.77e-23 |
SMART |
|
low complexity region
|
670 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
713 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
852 |
871 |
N/A |
INTRINSIC |
|
low complexity region
|
922 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222546
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.6%
|
| Validation Efficiency |
99% (87/88) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein containing two chromodomains and an ATP-binding helicase domain that functions as a regulator of transcription. Mutations in this gene result in an array of development defects, including inner ear problems. Mice defective for this gene exhibit many of the clinical features of the CHARGE syndrome caused by mutations in the homologous gene in human. [provided by RefSeq, Sep 2015]
PHENOTYPE: Heterozygotes for mutations of this gene exhibit a variety of combinations of hyperactivity, circling, head-bobbing, semicircular canal defects, hearing loss, reduced size, and tail-kink. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(32) : Targeted, other(4) Gene trapped(19) Chemically induced(9) |
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
C |
A |
1: 158,796,482 (GRCm39) |
|
noncoding transcript |
Het |
| Adam17 |
G |
A |
12: 21,399,876 (GRCm39) |
R177C |
probably damaging |
Het |
| Ak7 |
G |
A |
12: 105,711,591 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
C |
5: 4,011,967 (GRCm39) |
V890A |
probably damaging |
Het |
| Alg6 |
A |
G |
4: 99,626,369 (GRCm39) |
N59S |
probably damaging |
Het |
| Alkbh5 |
G |
T |
11: 60,429,375 (GRCm39) |
A43S |
probably benign |
Het |
| Anxa2 |
C |
A |
9: 69,391,099 (GRCm39) |
D162E |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,050,725 (GRCm39) |
H1136R |
probably benign |
Het |
| Arhgap18 |
A |
G |
10: 26,730,900 (GRCm39) |
R121G |
probably benign |
Het |
| Arhgef4 |
A |
T |
1: 34,762,891 (GRCm39) |
T716S |
unknown |
Het |
| Atg2a |
T |
C |
19: 6,300,299 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
C |
4: 154,117,770 (GRCm39) |
I480V |
probably null |
Het |
| Cdipt |
T |
C |
7: 126,576,105 (GRCm39) |
V20A |
possibly damaging |
Het |
| Cgrrf1 |
C |
T |
14: 47,067,902 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,452,698 (GRCm39) |
S1274C |
probably damaging |
Het |
| Chuk |
A |
T |
19: 44,095,782 (GRCm39) |
M17K |
possibly damaging |
Het |
| Col14a1 |
C |
T |
15: 55,309,577 (GRCm39) |
|
probably benign |
Het |
| Col20a1 |
G |
A |
2: 180,654,956 (GRCm39) |
|
probably null |
Het |
| Cped1 |
A |
G |
6: 22,143,963 (GRCm39) |
I570V |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Ddx27 |
A |
C |
2: 166,875,691 (GRCm39) |
Q674P |
probably damaging |
Het |
| Dennd6a |
T |
A |
14: 26,333,158 (GRCm39) |
F131L |
probably damaging |
Het |
| Dhx38 |
G |
A |
8: 110,283,501 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,301,378 (GRCm39) |
N2175K |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,022,625 (GRCm39) |
Y1654* |
probably null |
Het |
| Dock7 |
T |
A |
4: 98,847,338 (GRCm39) |
H1658L |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,122,772 (GRCm39) |
E2061D |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,162,925 (GRCm39) |
I555V |
probably benign |
Het |
| Eif2ak2 |
T |
C |
17: 79,171,392 (GRCm39) |
E337G |
possibly damaging |
Het |
| Fabp12 |
T |
A |
3: 10,315,209 (GRCm39) |
D46V |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,855,019 (GRCm39) |
S1882P |
probably benign |
Het |
| Fech |
C |
T |
18: 64,611,798 (GRCm39) |
E79K |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,444,362 (GRCm39) |
I693F |
probably damaging |
Het |
| Foxp2 |
G |
A |
6: 15,324,643 (GRCm39) |
C97Y |
possibly damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,894 (GRCm39) |
M884T |
probably benign |
Het |
| Gtf2ird1 |
T |
C |
5: 134,445,947 (GRCm39) |
D28G |
probably damaging |
Het |
| Gtf3c4 |
C |
A |
2: 28,723,906 (GRCm39) |
G468W |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,424,585 (GRCm39) |
L201* |
probably null |
Het |
| Ift70a1 |
A |
G |
2: 75,811,279 (GRCm39) |
V268A |
probably benign |
Het |
| Il1rl2 |
C |
A |
1: 40,404,374 (GRCm39) |
S498R |
probably damaging |
Het |
| Ildr1 |
C |
T |
16: 36,545,903 (GRCm39) |
R489W |
probably damaging |
Het |
| Itga10 |
G |
A |
3: 96,559,806 (GRCm39) |
G487D |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,448,640 (GRCm39) |
N128D |
probably benign |
Het |
| Lgr6 |
G |
A |
1: 135,003,013 (GRCm39) |
T79M |
probably damaging |
Het |
| Med6 |
T |
C |
12: 81,620,651 (GRCm39) |
T232A |
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,469,060 (GRCm39) |
L328P |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,824,163 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ngef |
T |
C |
1: 87,473,690 (GRCm39) |
R31G |
probably benign |
Het |
| Nipsnap2 |
C |
A |
5: 129,830,287 (GRCm39) |
|
probably null |
Het |
| Nlgn2 |
G |
T |
11: 69,719,267 (GRCm39) |
N194K |
probably damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,664 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
| Or5b98 |
G |
A |
19: 12,931,696 (GRCm39) |
V248I |
possibly damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,087 (GRCm39) |
I158M |
probably benign |
Het |
| Or8c16 |
A |
G |
9: 38,130,728 (GRCm39) |
Y203C |
possibly damaging |
Het |
| Pcca |
T |
A |
14: 123,050,634 (GRCm39) |
M101K |
possibly damaging |
Het |
| Plekha6 |
A |
G |
1: 133,212,708 (GRCm39) |
T671A |
possibly damaging |
Het |
| Prex2 |
G |
A |
1: 11,232,536 (GRCm39) |
V868M |
probably damaging |
Het |
| Prkcq |
G |
A |
2: 11,284,332 (GRCm39) |
V501I |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,168,595 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,051,398 (GRCm39) |
V41A |
probably damaging |
Het |
| Rab39 |
C |
T |
9: 53,597,698 (GRCm39) |
G189E |
possibly damaging |
Het |
| Ret |
T |
C |
6: 118,157,343 (GRCm39) |
K236E |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,596,153 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,352,744 (GRCm39) |
T3916A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,665 (GRCm39) |
N336S |
probably damaging |
Het |
| Sag |
G |
A |
1: 87,733,037 (GRCm39) |
A2T |
probably damaging |
Het |
| Sco2 |
T |
C |
15: 89,256,063 (GRCm39) |
Y197C |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,408,864 (GRCm39) |
I183T |
possibly damaging |
Het |
| Sec24b |
C |
T |
3: 129,781,377 (GRCm39) |
V1166M |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,727,339 (GRCm39) |
F361Y |
probably damaging |
Het |
| Spaca9 |
A |
G |
2: 28,586,013 (GRCm39) |
L17P |
probably damaging |
Het |
| Sqor |
T |
C |
2: 122,646,027 (GRCm39) |
|
probably null |
Het |
| Stx18 |
A |
G |
5: 38,292,588 (GRCm39) |
H230R |
probably damaging |
Het |
| Tas2r130 |
A |
T |
6: 131,607,732 (GRCm39) |
I21N |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,570,658 (GRCm39) |
S365P |
possibly damaging |
Het |
| Tinagl1 |
G |
A |
4: 130,060,765 (GRCm39) |
H351Y |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,305 (GRCm39) |
Y333H |
probably damaging |
Het |
| Trp53bp2 |
A |
T |
1: 182,270,384 (GRCm39) |
T395S |
probably damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,773 (GRCm39) |
S751P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,657,368 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,574,268 (GRCm39) |
Y425C |
probably damaging |
Het |
| Vmn1r115 |
G |
A |
7: 20,578,094 (GRCm39) |
L273F |
probably null |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,448 (GRCm39) |
C636* |
probably null |
Het |
| Vmn2r59 |
A |
C |
7: 41,693,203 (GRCm39) |
Y466D |
probably damaging |
Het |
| Zic5 |
C |
T |
14: 122,702,242 (GRCm39) |
G163D |
unknown |
Het |
|
| Other mutations in Chd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Chd7
|
APN |
4 |
8,859,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00510:Chd7
|
APN |
4 |
8,801,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00741:Chd7
|
APN |
4 |
8,839,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00796:Chd7
|
APN |
4 |
8,847,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00907:Chd7
|
APN |
4 |
8,840,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00930:Chd7
|
APN |
4 |
8,805,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01542:Chd7
|
APN |
4 |
8,859,285 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01602:Chd7
|
APN |
4 |
8,833,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01605:Chd7
|
APN |
4 |
8,833,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01670:Chd7
|
APN |
4 |
8,827,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02434:Chd7
|
APN |
4 |
8,752,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02531:Chd7
|
APN |
4 |
8,854,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Chd7
|
APN |
4 |
8,826,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Chd7
|
APN |
4 |
8,751,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02972:Chd7
|
APN |
4 |
8,855,174 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03329:Chd7
|
APN |
4 |
8,841,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Fili
|
UTSW |
4 |
8,839,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4043:Chd7
|
UTSW |
4 |
8,862,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Chd7
|
UTSW |
4 |
8,828,398 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
PIT4466001:Chd7
|
UTSW |
4 |
8,753,101 (GRCm39) |
missense |
unknown |
|
|
PIT4472001:Chd7
|
UTSW |
4 |
8,753,101 (GRCm39) |
missense |
unknown |
|
|
R0157:Chd7
|
UTSW |
4 |
8,833,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Chd7
|
UTSW |
4 |
8,862,516 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0240:Chd7
|
UTSW |
4 |
8,852,670 (GRCm39) |
unclassified |
probably benign |
|
|
R0388:Chd7
|
UTSW |
4 |
8,854,560 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0462:Chd7
|
UTSW |
4 |
8,850,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Chd7
|
UTSW |
4 |
8,805,139 (GRCm39) |
intron |
probably benign |
|
|
R0657:Chd7
|
UTSW |
4 |
8,753,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0799:Chd7
|
UTSW |
4 |
8,801,310 (GRCm39) |
intron |
probably benign |
|
|
R0885:Chd7
|
UTSW |
4 |
8,866,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1056:Chd7
|
UTSW |
4 |
8,822,402 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1086:Chd7
|
UTSW |
4 |
8,866,458 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1353:Chd7
|
UTSW |
4 |
8,839,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Chd7
|
UTSW |
4 |
8,840,561 (GRCm39) |
splice site |
probably null |
|
|
R1466:Chd7
|
UTSW |
4 |
8,840,561 (GRCm39) |
splice site |
probably null |
|
|
R1605:Chd7
|
UTSW |
4 |
8,844,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Chd7
|
UTSW |
4 |
8,864,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1695:Chd7
|
UTSW |
4 |
8,833,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Chd7
|
UTSW |
4 |
8,847,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Chd7
|
UTSW |
4 |
8,865,978 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2134:Chd7
|
UTSW |
4 |
8,753,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2171:Chd7
|
UTSW |
4 |
8,752,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Chd7
|
UTSW |
4 |
8,785,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2300:Chd7
|
UTSW |
4 |
8,855,241 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2355:Chd7
|
UTSW |
4 |
8,801,350 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3153:Chd7
|
UTSW |
4 |
8,855,174 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3430:Chd7
|
UTSW |
4 |
8,844,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3746:Chd7
|
UTSW |
4 |
8,752,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Chd7
|
UTSW |
4 |
8,865,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Chd7
|
UTSW |
4 |
8,785,658 (GRCm39) |
intron |
probably benign |
|
|
R4332:Chd7
|
UTSW |
4 |
8,854,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Chd7
|
UTSW |
4 |
8,866,353 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4571:Chd7
|
UTSW |
4 |
8,866,217 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4722:Chd7
|
UTSW |
4 |
8,822,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:Chd7
|
UTSW |
4 |
8,844,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Chd7
|
UTSW |
4 |
8,838,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5205:Chd7
|
UTSW |
4 |
8,752,509 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5344:Chd7
|
UTSW |
4 |
8,844,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5484:Chd7
|
UTSW |
4 |
8,828,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Chd7
|
UTSW |
4 |
8,847,149 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5583:Chd7
|
UTSW |
4 |
8,752,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Chd7
|
UTSW |
4 |
8,866,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5905:Chd7
|
UTSW |
4 |
8,840,553 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6091:Chd7
|
UTSW |
4 |
8,751,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6126:Chd7
|
UTSW |
4 |
8,826,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6399:Chd7
|
UTSW |
4 |
8,828,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6751:Chd7
|
UTSW |
4 |
8,833,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6810:Chd7
|
UTSW |
4 |
8,839,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Chd7
|
UTSW |
4 |
8,811,501 (GRCm39) |
splice site |
probably null |
|
|
R6952:Chd7
|
UTSW |
4 |
8,856,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Chd7
|
UTSW |
4 |
8,859,285 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6990:Chd7
|
UTSW |
4 |
8,844,525 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7139:Chd7
|
UTSW |
4 |
8,865,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7288:Chd7
|
UTSW |
4 |
8,847,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7355:Chd7
|
UTSW |
4 |
8,752,196 (GRCm39) |
missense |
unknown |
|
|
R7452:Chd7
|
UTSW |
4 |
8,854,731 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7471:Chd7
|
UTSW |
4 |
8,859,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7588:Chd7
|
UTSW |
4 |
8,864,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Chd7
|
UTSW |
4 |
8,805,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7744:Chd7
|
UTSW |
4 |
8,862,485 (GRCm39) |
splice site |
probably null |
|
|
R7842:Chd7
|
UTSW |
4 |
8,854,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7883:Chd7
|
UTSW |
4 |
8,826,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Chd7
|
UTSW |
4 |
8,854,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7983:Chd7
|
UTSW |
4 |
8,844,609 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7983:Chd7
|
UTSW |
4 |
8,752,628 (GRCm39) |
missense |
unknown |
|
|
R8022:Chd7
|
UTSW |
4 |
8,751,605 (GRCm39) |
missense |
unknown |
|
|
R8161:Chd7
|
UTSW |
4 |
8,855,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8274:Chd7
|
UTSW |
4 |
8,839,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Chd7
|
UTSW |
4 |
8,862,485 (GRCm39) |
splice site |
probably null |
|
|
R8358:Chd7
|
UTSW |
4 |
8,839,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Chd7
|
UTSW |
4 |
8,811,465 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8483:Chd7
|
UTSW |
4 |
8,822,412 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8507:Chd7
|
UTSW |
4 |
8,858,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Chd7
|
UTSW |
4 |
8,859,211 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8695:Chd7
|
UTSW |
4 |
8,850,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Chd7
|
UTSW |
4 |
8,833,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Chd7
|
UTSW |
4 |
8,866,069 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8774:Chd7
|
UTSW |
4 |
8,854,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Chd7
|
UTSW |
4 |
8,854,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Chd7
|
UTSW |
4 |
8,838,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Chd7
|
UTSW |
4 |
8,839,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9018:Chd7
|
UTSW |
4 |
8,847,083 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9122:Chd7
|
UTSW |
4 |
8,840,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9131:Chd7
|
UTSW |
4 |
8,785,642 (GRCm39) |
missense |
|
|
|
R9182:Chd7
|
UTSW |
4 |
8,838,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Chd7
|
UTSW |
4 |
8,805,272 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9254:Chd7
|
UTSW |
4 |
8,752,210 (GRCm39) |
missense |
unknown |
|
|
R9379:Chd7
|
UTSW |
4 |
8,752,210 (GRCm39) |
missense |
unknown |
|
|
R9388:Chd7
|
UTSW |
4 |
8,865,756 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9455:Chd7
|
UTSW |
4 |
8,752,061 (GRCm39) |
missense |
unknown |
|
|
R9531:Chd7
|
UTSW |
4 |
8,858,489 (GRCm39) |
missense |
|
|
|
R9577:Chd7
|
UTSW |
4 |
8,752,964 (GRCm39) |
missense |
unknown |
|
|
R9634:Chd7
|
UTSW |
4 |
8,832,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chd7
|
UTSW |
4 |
8,844,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACAGGCTGAAGCTCTG -3'
(R):5'- TTGAGTTCACCCTTCACAGAG -3'
Sequencing Primer
(F):5'- CTAGATCTGCCCGAGTGGTG -3'
(R):5'- TTCACAGAGCTGGCCTCGAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation