Incidental Mutation 'R5114:Chd1'
| ID |
394122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1
|
| Ensembl Gene |
ENSMUSG00000023852 |
| Gene Name |
chromodomain helicase DNA binding protein 1 |
| Synonyms |
4930525N21Rik |
| MMRRC Submission |
042702-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
15925229-15992872 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 15948460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 127
(S127R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024627]
[ENSMUST00000173311]
|
| AlphaFold |
P40201 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024627
AA Change: S127R
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024627
Gene: ENSMUSG00000023852
AA Change: S127R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
CHROMO
|
268 |
355 |
6.43e-20 |
SMART |
|
CHROMO
|
385 |
443 |
1.19e-14 |
SMART |
|
DEXDc
|
475 |
672 |
3.44e-34 |
SMART |
|
Blast:DEXDc
|
692 |
786 |
2e-54 |
BLAST |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
HELICc
|
816 |
900 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
955 |
1234 |
1e-112 |
BLAST |
|
PDB:4B4C|A
|
1119 |
1320 |
1e-132 |
PDB |
|
low complexity region
|
1325 |
1348 |
N/A |
INTRINSIC |
|
low complexity region
|
1377 |
1388 |
N/A |
INTRINSIC |
|
DUF4208
|
1396 |
1500 |
5.54e-51 |
SMART |
|
low complexity region
|
1507 |
1516 |
N/A |
INTRINSIC |
|
low complexity region
|
1538 |
1549 |
N/A |
INTRINSIC |
|
low complexity region
|
1626 |
1650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173311
AA Change: S127R
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134091
Gene: ENSMUSG00000023852
AA Change: S127R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
230 |
N/A |
INTRINSIC |
|
CHROMO
|
268 |
355 |
6.43e-20 |
SMART |
|
CHROMO
|
385 |
443 |
1.19e-14 |
SMART |
|
DEXDc
|
475 |
672 |
3.44e-34 |
SMART |
|
Blast:DEXDc
|
692 |
786 |
2e-54 |
BLAST |
|
low complexity region
|
787 |
799 |
N/A |
INTRINSIC |
|
HELICc
|
816 |
900 |
8.48e-25 |
SMART |
|
Blast:DEXDc
|
955 |
1078 |
2e-38 |
BLAST |
|
| Meta Mutation Damage Score |
0.0984 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (93/94) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with arrest of epiblast development due to increased apoptosis and cell cycle defects, abnormal rostral-caudal axis patterning, and failure to gastrulate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830454E08Rik |
T |
A |
9: 120,406,693 (GRCm39) |
|
probably benign |
Het |
| Ada |
G |
A |
2: 163,572,406 (GRCm39) |
R225C |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,867,254 (GRCm39) |
K625R |
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,210,820 (GRCm39) |
I182V |
possibly damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,292 (GRCm39) |
M431L |
probably benign |
Het |
| Aox4 |
T |
C |
1: 58,285,445 (GRCm39) |
V643A |
possibly damaging |
Het |
| Arcn1 |
T |
C |
9: 44,671,441 (GRCm39) |
I29V |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,670,630 (GRCm39) |
T5A |
probably benign |
Het |
| Asb10 |
A |
T |
5: 24,745,740 (GRCm39) |
L62Q |
probably damaging |
Het |
| Atp23 |
T |
A |
10: 126,723,403 (GRCm39) |
H233L |
possibly damaging |
Het |
| Bglap2 |
C |
T |
3: 88,289,432 (GRCm39) |
|
probably benign |
Het |
| Carnmt1 |
T |
C |
19: 18,655,098 (GRCm39) |
S84P |
probably damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,312,319 (GRCm39) |
I180T |
probably damaging |
Het |
| Cdr2l |
T |
C |
11: 115,284,186 (GRCm39) |
F174S |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,301,312 (GRCm39) |
V2695I |
probably benign |
Het |
| Chmp4c |
T |
A |
3: 10,450,646 (GRCm39) |
F75L |
probably benign |
Het |
| Col13a1 |
A |
C |
10: 61,725,880 (GRCm39) |
V260G |
possibly damaging |
Het |
| Col5a1 |
A |
G |
2: 27,915,664 (GRCm39) |
N183D |
probably damaging |
Het |
| Cpn1 |
C |
T |
19: 43,974,634 (GRCm39) |
V32M |
probably damaging |
Het |
| Cxcl1 |
A |
G |
5: 91,039,373 (GRCm39) |
M39V |
probably benign |
Het |
| Dpep2 |
T |
A |
8: 106,712,825 (GRCm39) |
D455V |
probably damaging |
Het |
| Dpp7 |
G |
A |
2: 25,242,749 (GRCm39) |
T441I |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,241,640 (GRCm39) |
H4001N |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,038,828 (GRCm39) |
A1519T |
probably benign |
Het |
| Esrp2 |
C |
T |
8: 106,858,820 (GRCm39) |
V606I |
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,789,236 (GRCm39) |
K625E |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,303,946 (GRCm39) |
I14F |
probably damaging |
Het |
| Gpr37l1 |
G |
T |
1: 135,094,676 (GRCm39) |
F189L |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 52,003,020 (GRCm39) |
Q161* |
probably null |
Het |
| Hspa4l |
T |
C |
3: 40,700,197 (GRCm39) |
Y30H |
possibly damaging |
Het |
| Hspg2 |
G |
A |
4: 137,239,237 (GRCm39) |
C388Y |
probably damaging |
Het |
| Kcna1 |
A |
G |
6: 126,619,330 (GRCm39) |
I330T |
probably damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,781 (GRCm39) |
Y350F |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,919,118 (GRCm39) |
|
probably null |
Het |
| Krtap10-4 |
A |
T |
10: 77,662,520 (GRCm39) |
C109* |
probably null |
Het |
| Lrch4 |
T |
C |
5: 137,636,179 (GRCm39) |
S377P |
probably benign |
Het |
| Lrrc8c |
C |
A |
5: 105,755,349 (GRCm39) |
H375N |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,380,538 (GRCm39) |
E633G |
probably damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,560,697 (GRCm39) |
|
probably benign |
Het |
| Med12l |
C |
A |
3: 59,167,109 (GRCm39) |
T1523K |
possibly damaging |
Het |
| Mrps27 |
A |
T |
13: 99,547,973 (GRCm39) |
|
probably benign |
Het |
| Mzb1 |
T |
A |
18: 35,780,717 (GRCm39) |
Y158F |
probably benign |
Het |
| Nat8l |
T |
A |
5: 34,155,823 (GRCm39) |
C160S |
probably damaging |
Het |
| Ncf4 |
T |
C |
15: 78,146,593 (GRCm39) |
|
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,994,814 (GRCm39) |
Y283N |
probably damaging |
Het |
| Or1o3 |
T |
C |
17: 37,573,730 (GRCm39) |
Y275C |
probably damaging |
Het |
| Pak2 |
T |
A |
16: 31,861,936 (GRCm39) |
|
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,901,160 (GRCm39) |
I664T |
probably benign |
Het |
| Pcnx2 |
A |
C |
8: 126,564,749 (GRCm39) |
L1048R |
possibly damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,652,949 (GRCm39) |
M246V |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,566,355 (GRCm39) |
V522D |
probably benign |
Het |
| Plekhh1 |
A |
T |
12: 79,115,880 (GRCm39) |
M808L |
probably benign |
Het |
| Plpp2 |
C |
A |
10: 79,362,973 (GRCm39) |
R157L |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,978,558 (GRCm39) |
H441Q |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,572,613 (GRCm39) |
V300A |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,184,088 (GRCm39) |
K1633N |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,659,508 (GRCm39) |
V2004A |
possibly damaging |
Het |
| Rasd1 |
G |
T |
11: 59,854,933 (GRCm39) |
S182R |
possibly damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,288,373 (GRCm39) |
|
probably null |
Het |
| Rrp1b |
T |
A |
17: 32,255,445 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,474,272 (GRCm39) |
I425T |
probably benign |
Het |
| Shisal1 |
T |
C |
15: 84,301,427 (GRCm39) |
D72G |
probably damaging |
Het |
| Sipa1l1 |
C |
T |
12: 82,487,682 (GRCm39) |
A1652V |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,032,344 (GRCm39) |
Y348C |
probably damaging |
Het |
| Slc14a2 |
C |
A |
18: 78,238,963 (GRCm39) |
V219L |
possibly damaging |
Het |
| Smc1b |
G |
T |
15: 84,949,185 (GRCm39) |
P1242Q |
probably damaging |
Het |
| Smim33 |
A |
G |
18: 35,861,894 (GRCm39) |
Y126C |
probably damaging |
Het |
| Snx27 |
T |
A |
3: 94,431,551 (GRCm39) |
D281V |
probably damaging |
Het |
| Spem2 |
C |
T |
11: 69,707,973 (GRCm39) |
V331I |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,656,052 (GRCm39) |
K1343N |
probably damaging |
Het |
| Sult2a8 |
T |
C |
7: 14,147,584 (GRCm39) |
I236V |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,071 (GRCm39) |
E66G |
probably damaging |
Het |
| Synm |
T |
A |
7: 67,385,406 (GRCm39) |
E310V |
probably damaging |
Het |
| Tas2r118 |
G |
A |
6: 23,969,209 (GRCm39) |
A284V |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,667,742 (GRCm39) |
F755I |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,600,578 (GRCm39) |
N855D |
possibly damaging |
Het |
| Tmem230 |
G |
T |
2: 132,087,871 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,977,237 (GRCm39) |
T844I |
probably benign |
Het |
| Trmt44 |
T |
C |
5: 35,722,812 (GRCm39) |
S419G |
possibly damaging |
Het |
| Trpv1 |
T |
A |
11: 73,132,574 (GRCm39) |
V396E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,587,354 (GRCm39) |
I337T |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,137,934 (GRCm39) |
I1097T |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,953 (GRCm39) |
F791S |
possibly damaging |
Het |
| Zdhhc2 |
T |
A |
8: 40,898,825 (GRCm39) |
M45K |
probably benign |
Het |
| Zfp383 |
T |
A |
7: 29,614,166 (GRCm39) |
D140E |
probably damaging |
Het |
| Zfp712 |
C |
A |
13: 67,189,425 (GRCm39) |
K367N |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,237,949 (GRCm39) |
A399T |
probably damaging |
Het |
|
| Other mutations in Chd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Chd1
|
APN |
17 |
15,952,827 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01356:Chd1
|
APN |
17 |
15,970,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01369:Chd1
|
APN |
17 |
15,975,259 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01519:Chd1
|
APN |
17 |
17,598,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Chd1
|
APN |
17 |
15,990,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01635:Chd1
|
APN |
17 |
17,598,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01721:Chd1
|
APN |
17 |
15,990,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01959:Chd1
|
APN |
17 |
15,962,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02367:Chd1
|
APN |
17 |
17,610,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02476:Chd1
|
APN |
17 |
15,954,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Chd1
|
APN |
17 |
15,951,069 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02817:Chd1
|
APN |
17 |
15,969,762 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03084:Chd1
|
APN |
17 |
15,990,560 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03108:Chd1
|
APN |
17 |
15,945,543 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Holly
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0053:Chd1
|
UTSW |
17 |
15,967,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Chd1
|
UTSW |
17 |
15,967,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Chd1
|
UTSW |
17 |
17,613,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
|
R0285:Chd1
|
UTSW |
17 |
17,594,942 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Chd1
|
UTSW |
17 |
15,988,830 (GRCm39) |
missense |
probably benign |
|
|
R0326:Chd1
|
UTSW |
17 |
15,988,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Chd1
|
UTSW |
17 |
17,607,552 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0391:Chd1
|
UTSW |
17 |
15,970,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:Chd1
|
UTSW |
17 |
15,954,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0637:Chd1
|
UTSW |
17 |
15,962,550 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0675:Chd1
|
UTSW |
17 |
15,978,523 (GRCm39) |
unclassified |
probably benign |
|
|
R0701:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
|
R0788:Chd1
|
UTSW |
17 |
15,927,376 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0848:Chd1
|
UTSW |
17 |
15,990,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Chd1
|
UTSW |
17 |
15,945,693 (GRCm39) |
missense |
probably benign |
|
|
R1169:Chd1
|
UTSW |
17 |
15,955,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1218:Chd1
|
UTSW |
17 |
15,945,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Chd1
|
UTSW |
17 |
17,607,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Chd1
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1470:Chd1
|
UTSW |
17 |
15,946,545 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1478:Chd1
|
UTSW |
17 |
15,959,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1752:Chd1
|
UTSW |
17 |
15,963,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1759:Chd1
|
UTSW |
17 |
17,607,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1767:Chd1
|
UTSW |
17 |
15,990,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Chd1
|
UTSW |
17 |
15,982,748 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2007:Chd1
|
UTSW |
17 |
15,951,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Chd1
|
UTSW |
17 |
15,962,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Chd1
|
UTSW |
17 |
17,594,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Chd1
|
UTSW |
17 |
17,594,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3849:Chd1
|
UTSW |
17 |
15,952,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4241:Chd1
|
UTSW |
17 |
15,990,289 (GRCm39) |
nonsense |
probably null |
|
|
R4242:Chd1
|
UTSW |
17 |
15,990,289 (GRCm39) |
nonsense |
probably null |
|
|
R4354:Chd1
|
UTSW |
17 |
17,610,263 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4468:Chd1
|
UTSW |
17 |
15,980,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4469:Chd1
|
UTSW |
17 |
15,980,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4731:Chd1
|
UTSW |
17 |
17,598,079 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4824:Chd1
|
UTSW |
17 |
15,953,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Chd1
|
UTSW |
17 |
15,989,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Chd1
|
UTSW |
17 |
15,989,015 (GRCm39) |
nonsense |
probably null |
|
|
R4880:Chd1
|
UTSW |
17 |
17,594,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:Chd1
|
UTSW |
17 |
15,962,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5071:Chd1
|
UTSW |
17 |
15,982,667 (GRCm39) |
missense |
probably benign |
|
|
R5078:Chd1
|
UTSW |
17 |
15,946,616 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5268:Chd1
|
UTSW |
17 |
15,956,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Chd1
|
UTSW |
17 |
15,990,530 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5304:Chd1
|
UTSW |
17 |
15,975,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5307:Chd1
|
UTSW |
17 |
15,952,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Chd1
|
UTSW |
17 |
15,958,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Chd1
|
UTSW |
17 |
17,605,875 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5623:Chd1
|
UTSW |
17 |
15,975,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6022:Chd1
|
UTSW |
17 |
17,598,035 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6137:Chd1
|
UTSW |
17 |
15,978,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Chd1
|
UTSW |
17 |
15,950,465 (GRCm39) |
splice site |
probably null |
|
|
R6373:Chd1
|
UTSW |
17 |
15,958,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Chd1
|
UTSW |
17 |
15,950,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6476:Chd1
|
UTSW |
17 |
17,601,250 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6508:Chd1
|
UTSW |
17 |
15,958,895 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6553:Chd1
|
UTSW |
17 |
15,945,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6745:Chd1
|
UTSW |
17 |
17,607,429 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7107:Chd1
|
UTSW |
17 |
15,981,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7230:Chd1
|
UTSW |
17 |
15,927,199 (GRCm39) |
splice site |
probably null |
|
|
R7317:Chd1
|
UTSW |
17 |
15,962,536 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7341:Chd1
|
UTSW |
17 |
15,990,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7421:Chd1
|
UTSW |
17 |
15,969,660 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7704:Chd1
|
UTSW |
17 |
15,987,737 (GRCm39) |
missense |
probably benign |
|
|
R7763:Chd1
|
UTSW |
17 |
15,953,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8156:Chd1
|
UTSW |
17 |
15,981,666 (GRCm39) |
missense |
probably benign |
|
|
R8194:Chd1
|
UTSW |
17 |
17,594,737 (GRCm39) |
start gained |
probably benign |
|
|
R8261:Chd1
|
UTSW |
17 |
17,607,804 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8338:Chd1
|
UTSW |
17 |
15,990,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Chd1
|
UTSW |
17 |
15,963,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Chd1
|
UTSW |
17 |
15,982,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9067:Chd1
|
UTSW |
17 |
15,951,107 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9184:Chd1
|
UTSW |
17 |
15,962,551 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9210:Chd1
|
UTSW |
17 |
15,950,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9212:Chd1
|
UTSW |
17 |
15,950,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9666:Chd1
|
UTSW |
17 |
15,955,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Chd1
|
UTSW |
17 |
15,989,023 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1176:Chd1
|
UTSW |
17 |
15,988,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chd1
|
UTSW |
17 |
15,986,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Chd1
|
UTSW |
17 |
15,968,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGATAACTGGCATGCATACCAC -3'
(R):5'- TTTCCTTAGCATTCAAAGTAAGTTGA -3'
Sequencing Primer
(F):5'- CTCTATTCAATGCCCAGGATTAGGG -3'
(R):5'- TTTAACACAGCACTCAGGAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation