Incidental Mutation 'IGL02115:Zc3h4'
ID |
280331 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zc3h4
|
Ensembl Gene |
ENSMUSG00000059273 |
Gene Name |
zinc finger CCCH-type containing 4 |
Synonyms |
Kiaa1064-hp, Bwq1, LOC330474 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02115
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16159708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 426
(D426G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098789]
[ENSMUST00000209289]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000098789
AA Change: D418G
|
SMART Domains |
Protein: ENSMUSP00000096386 Gene: ENSMUSG00000059273 AA Change: D418G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
low complexity region
|
35 |
97 |
N/A |
INTRINSIC |
low complexity region
|
144 |
170 |
N/A |
INTRINSIC |
low complexity region
|
184 |
247 |
N/A |
INTRINSIC |
low complexity region
|
264 |
324 |
N/A |
INTRINSIC |
ZnF_C3H1
|
341 |
366 |
1.95e-3 |
SMART |
ZnF_C3H1
|
370 |
395 |
6.17e-6 |
SMART |
ZnF_C3H1
|
396 |
419 |
3.38e-1 |
SMART |
low complexity region
|
433 |
451 |
N/A |
INTRINSIC |
low complexity region
|
456 |
486 |
N/A |
INTRINSIC |
low complexity region
|
489 |
505 |
N/A |
INTRINSIC |
low complexity region
|
552 |
641 |
N/A |
INTRINSIC |
low complexity region
|
705 |
720 |
N/A |
INTRINSIC |
coiled coil region
|
729 |
760 |
N/A |
INTRINSIC |
internal_repeat_2
|
767 |
822 |
3.38e-5 |
PROSPERO |
low complexity region
|
837 |
850 |
N/A |
INTRINSIC |
low complexity region
|
863 |
880 |
N/A |
INTRINSIC |
low complexity region
|
881 |
892 |
N/A |
INTRINSIC |
internal_repeat_2
|
986 |
1037 |
3.38e-5 |
PROSPERO |
low complexity region
|
1049 |
1072 |
N/A |
INTRINSIC |
low complexity region
|
1077 |
1097 |
N/A |
INTRINSIC |
low complexity region
|
1175 |
1195 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000209289
AA Change: D426G
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933440M02Rik |
A |
T |
7: 124,930,781 (GRCm39) |
|
noncoding transcript |
Het |
Abca7 |
A |
T |
10: 79,833,913 (GRCm39) |
N76Y |
probably damaging |
Het |
Apob |
A |
G |
12: 8,042,923 (GRCm39) |
K755R |
probably benign |
Het |
BC034090 |
A |
T |
1: 155,108,397 (GRCm39) |
|
probably benign |
Het |
Brinp1 |
T |
C |
4: 68,680,635 (GRCm39) |
T632A |
probably benign |
Het |
Cdcp1 |
C |
A |
9: 123,014,462 (GRCm39) |
C104F |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,722,623 (GRCm39) |
V153I |
possibly damaging |
Het |
Chd1l |
A |
T |
3: 97,497,220 (GRCm39) |
|
probably null |
Het |
Ckb |
A |
G |
12: 111,636,415 (GRCm39) |
F271L |
possibly damaging |
Het |
Col6a3 |
T |
A |
1: 90,735,373 (GRCm39) |
I759L |
probably damaging |
Het |
Ddr2 |
A |
T |
1: 169,822,278 (GRCm39) |
M390K |
probably benign |
Het |
Dhx8 |
C |
T |
11: 101,643,214 (GRCm39) |
P762L |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,628,277 (GRCm39) |
V1449E |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,768,848 (GRCm39) |
I629M |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,533,019 (GRCm39) |
I1692T |
unknown |
Het |
Ercc6 |
T |
A |
14: 32,298,950 (GRCm39) |
L1446Q |
probably damaging |
Het |
Gm10092 |
T |
C |
16: 35,957,993 (GRCm39) |
|
noncoding transcript |
Het |
Gm6900 |
A |
T |
7: 10,390,503 (GRCm39) |
|
noncoding transcript |
Het |
Gpr149 |
T |
C |
3: 62,502,336 (GRCm39) |
T507A |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,506,479 (GRCm39) |
D3776V |
probably damaging |
Het |
Irgm2 |
A |
G |
11: 58,110,948 (GRCm39) |
E225G |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,424,305 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
T |
C |
16: 17,594,459 (GRCm39) |
V196A |
probably damaging |
Het |
Lig4 |
T |
C |
8: 10,023,247 (GRCm39) |
S178G |
possibly damaging |
Het |
Lzts2 |
A |
G |
19: 45,014,809 (GRCm39) |
|
probably benign |
Het |
Mcoln3 |
C |
T |
3: 145,843,056 (GRCm39) |
S380L |
probably damaging |
Het |
Med12l |
A |
T |
3: 58,975,740 (GRCm39) |
T223S |
probably benign |
Het |
Mrpl54 |
A |
G |
10: 81,101,483 (GRCm39) |
|
probably null |
Het |
Myo1c |
A |
T |
11: 75,552,417 (GRCm39) |
I397F |
probably damaging |
Het |
Nbas |
A |
T |
12: 13,367,693 (GRCm39) |
|
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,223,041 (GRCm39) |
H1195Y |
probably damaging |
Het |
Nol3 |
A |
G |
8: 106,006,263 (GRCm39) |
M171V |
probably benign |
Het |
Or2l5 |
A |
T |
16: 19,333,853 (GRCm39) |
C178S |
probably damaging |
Het |
Or52s1 |
A |
G |
7: 102,861,681 (GRCm39) |
T194A |
probably damaging |
Het |
Pdpr |
C |
T |
8: 111,830,630 (GRCm39) |
L107F |
probably damaging |
Het |
Ppfibp2 |
G |
A |
7: 107,338,525 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
T |
C |
4: 43,426,136 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
G |
T |
11: 113,725,639 (GRCm39) |
|
probably benign |
Het |
Sema7a |
T |
C |
9: 57,868,183 (GRCm39) |
C539R |
probably damaging |
Het |
Senp6 |
T |
C |
9: 80,029,208 (GRCm39) |
C524R |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc15a1 |
A |
T |
14: 121,718,073 (GRCm39) |
Y269N |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,067,865 (GRCm39) |
Y113N |
probably damaging |
Het |
Tm6sf1 |
A |
T |
7: 81,525,551 (GRCm39) |
Y172F |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,763,090 (GRCm39) |
D773G |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,283,491 (GRCm39) |
|
probably benign |
Het |
Tut1 |
C |
T |
19: 8,942,676 (GRCm39) |
R588W |
probably damaging |
Het |
Unc79 |
A |
T |
12: 102,964,933 (GRCm39) |
Y74F |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,741,039 (GRCm39) |
I737K |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,800,787 (GRCm39) |
M383K |
probably damaging |
Het |
Zfp622 |
A |
G |
15: 25,987,286 (GRCm39) |
N308S |
probably damaging |
Het |
|
Other mutations in Zc3h4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Zc3h4
|
APN |
7 |
16,156,159 (GRCm39) |
missense |
unknown |
|
IGL00923:Zc3h4
|
APN |
7 |
16,163,617 (GRCm39) |
missense |
unknown |
|
IGL01541:Zc3h4
|
APN |
7 |
16,168,257 (GRCm39) |
missense |
unknown |
|
IGL02303:Zc3h4
|
APN |
7 |
16,168,002 (GRCm39) |
missense |
unknown |
|
IGL02336:Zc3h4
|
APN |
7 |
16,159,702 (GRCm39) |
missense |
unknown |
|
IGL02734:Zc3h4
|
APN |
7 |
16,157,849 (GRCm39) |
missense |
unknown |
|
IGL02736:Zc3h4
|
APN |
7 |
16,151,308 (GRCm39) |
nonsense |
probably null |
|
BB008:Zc3h4
|
UTSW |
7 |
16,166,909 (GRCm39) |
missense |
unknown |
|
BB018:Zc3h4
|
UTSW |
7 |
16,166,909 (GRCm39) |
missense |
unknown |
|
R0032:Zc3h4
|
UTSW |
7 |
16,168,565 (GRCm39) |
missense |
unknown |
|
R0032:Zc3h4
|
UTSW |
7 |
16,168,565 (GRCm39) |
missense |
unknown |
|
R0220:Zc3h4
|
UTSW |
7 |
16,163,198 (GRCm39) |
missense |
unknown |
|
R0336:Zc3h4
|
UTSW |
7 |
16,169,103 (GRCm39) |
missense |
unknown |
|
R0416:Zc3h4
|
UTSW |
7 |
16,154,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R0666:Zc3h4
|
UTSW |
7 |
16,168,697 (GRCm39) |
missense |
unknown |
|
R0864:Zc3h4
|
UTSW |
7 |
16,154,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R1068:Zc3h4
|
UTSW |
7 |
16,163,161 (GRCm39) |
missense |
unknown |
|
R1145:Zc3h4
|
UTSW |
7 |
16,150,838 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1145:Zc3h4
|
UTSW |
7 |
16,150,838 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1472:Zc3h4
|
UTSW |
7 |
16,168,695 (GRCm39) |
missense |
unknown |
|
R1665:Zc3h4
|
UTSW |
7 |
16,163,505 (GRCm39) |
missense |
unknown |
|
R2087:Zc3h4
|
UTSW |
7 |
16,150,865 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2182:Zc3h4
|
UTSW |
7 |
16,156,441 (GRCm39) |
missense |
unknown |
|
R2508:Zc3h4
|
UTSW |
7 |
16,168,264 (GRCm39) |
missense |
unknown |
|
R3037:Zc3h4
|
UTSW |
7 |
16,155,410 (GRCm39) |
missense |
unknown |
|
R4439:Zc3h4
|
UTSW |
7 |
16,163,036 (GRCm39) |
missense |
unknown |
|
R4576:Zc3h4
|
UTSW |
7 |
16,168,579 (GRCm39) |
missense |
unknown |
|
R5030:Zc3h4
|
UTSW |
7 |
16,156,155 (GRCm39) |
missense |
unknown |
|
R5160:Zc3h4
|
UTSW |
7 |
16,168,573 (GRCm39) |
missense |
unknown |
|
R5270:Zc3h4
|
UTSW |
7 |
16,168,440 (GRCm39) |
missense |
unknown |
|
R5490:Zc3h4
|
UTSW |
7 |
16,162,930 (GRCm39) |
missense |
unknown |
|
R5519:Zc3h4
|
UTSW |
7 |
16,169,157 (GRCm39) |
missense |
unknown |
|
R5770:Zc3h4
|
UTSW |
7 |
16,163,536 (GRCm39) |
missense |
unknown |
|
R7067:Zc3h4
|
UTSW |
7 |
16,162,976 (GRCm39) |
nonsense |
probably null |
|
R7234:Zc3h4
|
UTSW |
7 |
16,162,961 (GRCm39) |
missense |
unknown |
|
R7316:Zc3h4
|
UTSW |
7 |
16,169,260 (GRCm39) |
missense |
unknown |
|
R7771:Zc3h4
|
UTSW |
7 |
16,163,824 (GRCm39) |
missense |
unknown |
|
R7852:Zc3h4
|
UTSW |
7 |
16,156,392 (GRCm39) |
missense |
unknown |
|
R7922:Zc3h4
|
UTSW |
7 |
16,159,647 (GRCm39) |
missense |
unknown |
|
R7931:Zc3h4
|
UTSW |
7 |
16,166,909 (GRCm39) |
missense |
unknown |
|
R7965:Zc3h4
|
UTSW |
7 |
16,163,770 (GRCm39) |
missense |
unknown |
|
R8827:Zc3h4
|
UTSW |
7 |
16,163,123 (GRCm39) |
missense |
unknown |
|
R8859:Zc3h4
|
UTSW |
7 |
16,168,939 (GRCm39) |
missense |
unknown |
|
R9457:Zc3h4
|
UTSW |
7 |
16,168,675 (GRCm39) |
missense |
unknown |
|
R9562:Zc3h4
|
UTSW |
7 |
16,168,891 (GRCm39) |
missense |
unknown |
|
R9609:Zc3h4
|
UTSW |
7 |
16,150,751 (GRCm39) |
missense |
unknown |
|
R9721:Zc3h4
|
UTSW |
7 |
16,168,770 (GRCm39) |
missense |
unknown |
|
RF001:Zc3h4
|
UTSW |
7 |
16,163,612 (GRCm39) |
small insertion |
probably benign |
|
RF039:Zc3h4
|
UTSW |
7 |
16,163,543 (GRCm39) |
small deletion |
probably benign |
|
X0064:Zc3h4
|
UTSW |
7 |
16,156,441 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-04-16 |