Incidental Mutation 'IGL01981:Zcchc2'
| ID |
183501 |
| 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 # |
IGL01981
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
105918136-105961804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105955229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 640
(E640G)
|
| 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: E640G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: E640G
| 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: E640G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: E640G
| 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: ENSMUST00000131830
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000186983
AA Change: E242G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000188954
AA Change: E256G
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
A |
C |
7: 27,337,499 (GRCm39) |
D417A |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,336 (GRCm39) |
S231T |
possibly damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,421,935 (GRCm39) |
T1377I |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,895,896 (GRCm39) |
T48A |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,251,501 (GRCm39) |
Y510C |
probably damaging |
Het |
| Chml |
A |
G |
1: 175,515,751 (GRCm39) |
S57P |
probably damaging |
Het |
| Cpxm1 |
G |
T |
2: 130,236,060 (GRCm39) |
C367* |
probably null |
Het |
| D930020B18Rik |
A |
G |
10: 121,528,319 (GRCm39) |
T428A |
probably damaging |
Het |
| Dnaja3 |
A |
T |
16: 4,519,033 (GRCm39) |
I325F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,407,519 (GRCm39) |
V943A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,481 (GRCm39) |
I300V |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,588,537 (GRCm39) |
E76G |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,042,647 (GRCm39) |
L380P |
probably damaging |
Het |
| Fxr2 |
A |
C |
11: 69,541,328 (GRCm39) |
I354L |
possibly damaging |
Het |
| Garnl3 |
G |
T |
2: 32,887,741 (GRCm39) |
N756K |
probably damaging |
Het |
| Gimap1 |
A |
G |
6: 48,720,258 (GRCm39) |
Y290C |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,935,795 (GRCm39) |
W99* |
probably null |
Het |
| Hexd |
G |
T |
11: 121,107,819 (GRCm39) |
S183I |
possibly damaging |
Het |
| Hmg20a |
C |
T |
9: 56,384,514 (GRCm39) |
P95S |
probably damaging |
Het |
| Jhy |
A |
T |
9: 40,806,842 (GRCm39) |
I769N |
probably damaging |
Het |
| Lrrd1 |
G |
T |
5: 3,901,267 (GRCm39) |
C524F |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,296,629 (GRCm39) |
S76R |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,513,160 (GRCm39) |
R613* |
probably null |
Het |
| Naa16 |
T |
A |
14: 79,618,956 (GRCm39) |
E172D |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,846 (GRCm39) |
M10K |
possibly damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,174 (GRCm39) |
Y278N |
probably benign |
Het |
| Pam |
C |
T |
1: 97,762,166 (GRCm39) |
V700M |
probably damaging |
Het |
| Phf8-ps |
C |
T |
17: 33,286,628 (GRCm39) |
G58E |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,743,655 (GRCm39) |
R1978L |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,593,791 (GRCm39) |
T1441S |
possibly damaging |
Het |
| Plg |
A |
G |
17: 12,621,934 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,750,099 (GRCm39) |
L521P |
probably damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,924 (GRCm39) |
P6S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,270,256 (GRCm39) |
V1280E |
probably damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,402,222 (GRCm39) |
S136P |
possibly damaging |
Het |
| Rtl1 |
C |
T |
12: 109,558,369 (GRCm39) |
E1157K |
possibly damaging |
Het |
| Sell |
G |
A |
1: 163,893,195 (GRCm39) |
R137Q |
probably benign |
Het |
| Shisa9 |
A |
T |
16: 12,062,522 (GRCm39) |
M248L |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,966,149 (GRCm39) |
E1144G |
probably benign |
Het |
| Sphk2 |
G |
T |
7: 45,360,157 (GRCm39) |
Q616K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,453 (GRCm39) |
T207A |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,996,842 (GRCm39) |
T1885A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,232,965 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,927,350 (GRCm39) |
M622T |
probably benign |
Het |
| Vangl1 |
A |
G |
3: 102,091,607 (GRCm39) |
F160L |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,813,317 (GRCm39) |
S3289G |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,855,673 (GRCm39) |
F647S |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,498,907 (GRCm39) |
L509P |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,324,383 (GRCm39) |
I326N |
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 |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation