Incidental Mutation 'R5599:Zcchc2'
ID |
438929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc2
|
Ensembl Gene |
ENSMUSG00000038866 |
Gene Name |
zinc finger, CCHC domain containing 2 |
Synonyms |
9930114B20Rik |
MMRRC Submission |
043151-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R5599 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
105918136-105961804 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105959880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1163
(D1163G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113974
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118196]
[ENSMUST00000119166]
|
AlphaFold |
Q69ZB8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118196
AA Change: D1163G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113974 Gene: ENSMUSG00000038866 AA Change: D1163G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
low complexity region
|
34 |
67 |
N/A |
INTRINSIC |
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
SCOP:d1gd5a_
|
347 |
451 |
5e-7 |
SMART |
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
low complexity region
|
624 |
634 |
N/A |
INTRINSIC |
low complexity region
|
640 |
659 |
N/A |
INTRINSIC |
low complexity region
|
777 |
795 |
N/A |
INTRINSIC |
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
low complexity region
|
998 |
1010 |
N/A |
INTRINSIC |
low complexity region
|
1020 |
1031 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1120 |
1136 |
1.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119166
|
SMART Domains |
Protein: ENSMUSP00000113128 Gene: ENSMUSG00000038866
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
27 |
N/A |
INTRINSIC |
low complexity region
|
34 |
67 |
N/A |
INTRINSIC |
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
low complexity region
|
234 |
247 |
N/A |
INTRINSIC |
SCOP:d1gd5a_
|
347 |
451 |
5e-7 |
SMART |
low complexity region
|
480 |
491 |
N/A |
INTRINSIC |
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
low complexity region
|
624 |
634 |
N/A |
INTRINSIC |
low complexity region
|
640 |
659 |
N/A |
INTRINSIC |
low complexity region
|
777 |
795 |
N/A |
INTRINSIC |
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
low complexity region
|
998 |
1010 |
N/A |
INTRINSIC |
low complexity region
|
1020 |
1031 |
N/A |
INTRINSIC |
ZnF_C2HC
|
1120 |
1136 |
1.12e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186983
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188954
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
Cry1 |
A |
T |
10: 84,980,114 (GRCm39) |
M398K |
probably benign |
Het |
Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
Lims2 |
A |
G |
18: 32,090,324 (GRCm39) |
N183S |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
Or7g29 |
T |
G |
9: 19,286,925 (GRCm39) |
N84T |
possibly damaging |
Het |
Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
Plekha7 |
T |
A |
7: 115,776,117 (GRCm39) |
|
probably null |
Het |
Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
Psmd6 |
A |
C |
14: 14,120,144 (GRCm38) |
M65R |
probably benign |
Het |
Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
Rin3 |
T |
C |
12: 102,356,188 (GRCm39) |
F830L |
probably damaging |
Het |
Sema4b |
A |
G |
7: 79,863,039 (GRCm39) |
K104R |
probably benign |
Het |
Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
probably damaging |
Het |
|
Other mutations in Zcchc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00587:Zcchc2
|
APN |
1 |
105,957,993 (GRCm39) |
missense |
probably benign |
0.25 |
IGL01339:Zcchc2
|
APN |
1 |
105,957,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01981:Zcchc2
|
APN |
1 |
105,955,229 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02172:Zcchc2
|
APN |
1 |
105,928,664 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02864:Zcchc2
|
APN |
1 |
105,943,814 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02993:Zcchc2
|
APN |
1 |
105,957,898 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03163:Zcchc2
|
APN |
1 |
105,958,841 (GRCm39) |
missense |
probably damaging |
1.00 |
P0042:Zcchc2
|
UTSW |
1 |
105,958,727 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0200:Zcchc2
|
UTSW |
1 |
105,931,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R0477:Zcchc2
|
UTSW |
1 |
105,958,000 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0501:Zcchc2
|
UTSW |
1 |
105,943,821 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0689:Zcchc2
|
UTSW |
1 |
105,958,234 (GRCm39) |
nonsense |
probably null |
|
R1799:Zcchc2
|
UTSW |
1 |
105,958,017 (GRCm39) |
missense |
probably benign |
0.00 |
R2016:Zcchc2
|
UTSW |
1 |
105,931,851 (GRCm39) |
splice site |
probably null |
|
R2153:Zcchc2
|
UTSW |
1 |
105,949,453 (GRCm39) |
splice site |
probably null |
|
R2175:Zcchc2
|
UTSW |
1 |
105,955,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R2999:Zcchc2
|
UTSW |
1 |
105,957,754 (GRCm39) |
missense |
probably benign |
0.00 |
R3113:Zcchc2
|
UTSW |
1 |
105,918,752 (GRCm39) |
missense |
unknown |
|
R4571:Zcchc2
|
UTSW |
1 |
105,958,987 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4670:Zcchc2
|
UTSW |
1 |
105,917,996 (GRCm39) |
unclassified |
probably benign |
|
R5067:Zcchc2
|
UTSW |
1 |
105,958,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R5423:Zcchc2
|
UTSW |
1 |
105,958,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R5499:Zcchc2
|
UTSW |
1 |
105,958,322 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5522:Zcchc2
|
UTSW |
1 |
105,951,426 (GRCm39) |
missense |
probably benign |
0.00 |
R5526:Zcchc2
|
UTSW |
1 |
105,957,984 (GRCm39) |
nonsense |
probably null |
|
R5571:Zcchc2
|
UTSW |
1 |
105,951,402 (GRCm39) |
missense |
probably benign |
|
R6133:Zcchc2
|
UTSW |
1 |
105,947,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6191:Zcchc2
|
UTSW |
1 |
105,917,900 (GRCm39) |
unclassified |
probably benign |
|
R6194:Zcchc2
|
UTSW |
1 |
105,918,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R6246:Zcchc2
|
UTSW |
1 |
105,957,796 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7089:Zcchc2
|
UTSW |
1 |
105,958,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R7626:Zcchc2
|
UTSW |
1 |
105,928,742 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7749:Zcchc2
|
UTSW |
1 |
105,946,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Zcchc2
|
UTSW |
1 |
105,931,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Zcchc2
|
UTSW |
1 |
105,945,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R7982:Zcchc2
|
UTSW |
1 |
105,958,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R8316:Zcchc2
|
UTSW |
1 |
105,959,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R8351:Zcchc2
|
UTSW |
1 |
105,958,662 (GRCm39) |
missense |
probably damaging |
0.98 |
R8451:Zcchc2
|
UTSW |
1 |
105,958,662 (GRCm39) |
missense |
probably damaging |
0.98 |
R8697:Zcchc2
|
UTSW |
1 |
105,958,494 (GRCm39) |
missense |
probably damaging |
0.98 |
R8862:Zcchc2
|
UTSW |
1 |
105,958,998 (GRCm39) |
makesense |
probably null |
|
R9133:Zcchc2
|
UTSW |
1 |
105,958,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R9421:Zcchc2
|
UTSW |
1 |
105,950,987 (GRCm39) |
missense |
probably benign |
|
RF022:Zcchc2
|
UTSW |
1 |
105,939,472 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1176:Zcchc2
|
UTSW |
1 |
105,918,856 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zcchc2
|
UTSW |
1 |
105,957,555 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Zcchc2
|
UTSW |
1 |
105,931,866 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGTGCTGAGGAAAGGCC -3'
(R):5'- TGTCATACATGTAAGCCGGCTG -3'
Sequencing Primer
(F):5'- AGGCCTTTGAAAGCATGCTC -3'
(R):5'- CAGGAGCATCACATTCTTTCATATTC -3'
|
Posted On |
2016-10-26 |