Incidental Mutation 'IGL02172:Zcchc2'
| ID |
282918 |
| 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 # |
IGL02172
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
105918136-105961804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105928664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 308
(D308N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118196]
[ENSMUST00000119166]
|
| AlphaFold |
Q69ZB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118196
AA Change: D308N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: D308N
| 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
AA Change: D308N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: D308N
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,341,817 (GRCm39) |
V1048A |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,367,097 (GRCm39) |
V810A |
probably benign |
Het |
| Atf1 |
T |
A |
15: 100,152,322 (GRCm39) |
V105E |
probably damaging |
Het |
| Bbs9 |
C |
T |
9: 22,490,772 (GRCm39) |
T300I |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,059,022 (GRCm39) |
V3236A |
probably damaging |
Het |
| Brd7 |
G |
T |
8: 89,078,452 (GRCm39) |
H226Q |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,705,681 (GRCm38) |
K238R |
probably damaging |
Het |
| Chordc1 |
A |
G |
9: 18,213,388 (GRCm39) |
T80A |
possibly damaging |
Het |
| Clca4a |
A |
T |
3: 144,676,155 (GRCm39) |
C126* |
probably null |
Het |
| Col24a1 |
A |
T |
3: 145,020,723 (GRCm39) |
T365S |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,164,965 (GRCm39) |
G1053D |
probably damaging |
Het |
| Creb3l4 |
A |
T |
3: 90,150,082 (GRCm39) |
S20T |
probably benign |
Het |
| Cyp2c67 |
C |
T |
19: 39,637,446 (GRCm39) |
C10Y |
possibly damaging |
Het |
| Dhdh |
A |
T |
7: 45,125,041 (GRCm39) |
C294S |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,063,861 (GRCm39) |
|
probably null |
Het |
| Fsd1 |
G |
T |
17: 56,297,244 (GRCm39) |
|
probably benign |
Het |
| Gatad2b |
A |
G |
3: 90,262,978 (GRCm39) |
|
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,680,382 (GRCm39) |
D232G |
probably damaging |
Het |
| Gm10553 |
T |
C |
1: 85,078,015 (GRCm39) |
L44P |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,438,734 (GRCm39) |
Y883C |
probably damaging |
Het |
| Helq |
A |
G |
5: 100,938,013 (GRCm39) |
F478L |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,438,681 (GRCm39) |
|
probably benign |
Het |
| Krtcap3 |
A |
C |
5: 31,409,397 (GRCm39) |
T55P |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,355,149 (GRCm39) |
D1488G |
probably damaging |
Het |
| Mrpl1 |
T |
C |
5: 96,379,574 (GRCm39) |
V203A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,079,878 (GRCm39) |
D1084V |
possibly damaging |
Het |
| Necap2 |
T |
A |
4: 140,805,621 (GRCm39) |
|
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,528,868 (GRCm39) |
S191G |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,380 (GRCm39) |
D1059G |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,110,020 (GRCm39) |
|
probably benign |
Het |
| Or51e1 |
G |
A |
7: 102,359,051 (GRCm39) |
R195H |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,582 (GRCm39) |
I26V |
probably benign |
Het |
| Prkdc |
T |
G |
16: 15,627,623 (GRCm39) |
V3427G |
probably benign |
Het |
| Ptprn2 |
A |
T |
12: 116,837,317 (GRCm39) |
|
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,397,422 (GRCm39) |
L1095H |
probably damaging |
Het |
| Ren1 |
T |
A |
1: 133,286,771 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,888,134 (GRCm39) |
I460T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Runx1t1 |
A |
C |
4: 13,859,924 (GRCm39) |
Q265P |
probably benign |
Het |
| Sh3d21 |
A |
G |
4: 126,046,153 (GRCm39) |
S282P |
probably benign |
Het |
| Slc39a13 |
T |
C |
2: 90,893,505 (GRCm39) |
E318G |
possibly damaging |
Het |
| Srd5a3 |
T |
C |
5: 76,295,556 (GRCm39) |
I82T |
probably benign |
Het |
| Stard7 |
C |
A |
2: 127,132,792 (GRCm39) |
T220N |
probably damaging |
Het |
| Tbx4 |
G |
A |
11: 85,805,389 (GRCm39) |
G493R |
possibly damaging |
Het |
| Trerf1 |
A |
T |
17: 47,628,743 (GRCm39) |
|
noncoding transcript |
Het |
| Trim59 |
T |
A |
3: 68,944,810 (GRCm39) |
I177L |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,637,248 (GRCm39) |
M1789V |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,655,132 (GRCm39) |
V455A |
probably benign |
Het |
| Vmn2r118 |
C |
A |
17: 55,931,598 (GRCm39) |
M25I |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wdr90 |
G |
A |
17: 26,069,408 (GRCm39) |
T1233I |
probably benign |
Het |
| Zfp57 |
G |
T |
17: 37,320,481 (GRCm39) |
V112L |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,135 (GRCm39) |
Y388N |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation