Incidental Mutation 'IGL02864:Zcchc2'
| ID |
362275 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zcchc2
|
| Ensembl Gene |
ENSMUSG00000038866 |
| Gene Name |
zinc finger, CCHC domain containing 2 |
| Synonyms |
9930114B20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
IGL02864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
105918136-105961804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105943814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 460
(H460Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118196]
[ENSMUST00000119166]
[ENSMUST00000131830]
|
| AlphaFold |
Q69ZB8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118196
AA Change: H460Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: H460Y
| 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 damaging
Transcript: ENSMUST00000119166
AA Change: H460Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: H460Y
| 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 damaging
Transcript: ENSMUST00000131830
AA Change: H53Y
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000186983
AA Change: H85Y
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000188954
AA Change: H104Y
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,937,080 (GRCm39) |
R347G |
probably damaging |
Het |
| Actl11 |
G |
A |
9: 107,806,186 (GRCm39) |
A170T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,670 (GRCm39) |
D241G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,835,308 (GRCm39) |
W745R |
probably damaging |
Het |
| Arhgef7 |
G |
A |
8: 11,865,247 (GRCm39) |
V401I |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,663 (GRCm39) |
V1709A |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,799 (GRCm39) |
|
probably null |
Het |
| Cd209d |
C |
T |
8: 3,927,122 (GRCm39) |
V48I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,374,548 (GRCm39) |
N1559S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,951,829 (GRCm39) |
Y1890C |
probably damaging |
Het |
| Dsel |
A |
T |
1: 111,786,944 (GRCm39) |
M1197K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,288,938 (GRCm39) |
S259T |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,349 (GRCm39) |
G672D |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,063,796 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,224,687 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,520 (GRCm39) |
C282Y |
probably benign |
Het |
| Hapln3 |
A |
T |
7: 78,767,812 (GRCm39) |
W113R |
probably benign |
Het |
| Ifng |
A |
G |
10: 118,278,561 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kyat1 |
C |
A |
2: 30,082,089 (GRCm39) |
|
probably benign |
Het |
| Las1l |
A |
T |
X: 94,991,446 (GRCm39) |
D308E |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,760,762 (GRCm39) |
T100S |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,338,806 (GRCm39) |
M810K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,543,685 (GRCm39) |
D593G |
probably damaging |
Het |
| Pnma5 |
A |
T |
X: 72,079,457 (GRCm39) |
D408E |
probably benign |
Het |
| Pramel46 |
G |
T |
5: 95,418,543 (GRCm39) |
A151E |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,073,268 (GRCm39) |
T18A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,883,659 (GRCm39) |
V802E |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,297,002 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,720,141 (GRCm39) |
N132S |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,997,487 (GRCm39) |
H675R |
probably damaging |
Het |
| Tpra1 |
C |
A |
6: 88,888,868 (GRCm39) |
P350H |
probably damaging |
Het |
| Trim43a |
C |
T |
9: 88,470,165 (GRCm39) |
R324C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,675 (GRCm39) |
I28073V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,767,095 (GRCm39) |
H3023Q |
probably benign |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,661 (GRCm39) |
V261A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,286 (GRCm39) |
P103S |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,848,791 (GRCm39) |
M52T |
probably benign |
Het |
| Zscan12 |
G |
T |
13: 21,552,730 (GRCm39) |
V185F |
probably benign |
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 |
|
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 |
|
|
R5599:Zcchc2
|
UTSW |
1 |
105,959,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation