Incidental Mutation 'IGL02303:Zc3h4'
ID |
287480 |
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 # |
IGL02303
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16168002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 704
(S704P)
|
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: S779P
|
SMART Domains |
Protein: ENSMUSP00000096386 Gene: ENSMUSG00000059273 AA Change: S779P
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: S704P
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,045,376 (GRCm39) |
F319S |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,664,827 (GRCm39) |
D922G |
unknown |
Het |
Bhlhe41 |
A |
T |
6: 145,809,882 (GRCm39) |
H107Q |
probably damaging |
Het |
Csmd2 |
C |
A |
4: 128,262,801 (GRCm39) |
H662Q |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,932,021 (GRCm39) |
V1463A |
probably benign |
Het |
Ebf3 |
A |
T |
7: 136,911,094 (GRCm39) |
V140E |
probably benign |
Het |
Havcr2 |
T |
A |
11: 46,370,108 (GRCm39) |
|
probably benign |
Het |
Hexb |
G |
A |
13: 97,313,401 (GRCm39) |
A485V |
probably damaging |
Het |
Igkv5-37 |
T |
A |
6: 69,940,473 (GRCm39) |
Q57L |
probably damaging |
Het |
Ipo5 |
T |
A |
14: 121,154,795 (GRCm39) |
S40T |
probably benign |
Het |
Kcnj8 |
A |
G |
6: 142,515,837 (GRCm39) |
M90T |
probably benign |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,515,155 (GRCm39) |
L2896R |
probably damaging |
Het |
Ldlrap1 |
A |
T |
4: 134,484,706 (GRCm39) |
I96N |
probably damaging |
Het |
Leo1 |
A |
G |
9: 75,353,281 (GRCm39) |
|
probably benign |
Het |
Mbnl2 |
T |
C |
14: 120,642,059 (GRCm39) |
M341T |
probably benign |
Het |
Nfatc2 |
G |
A |
2: 168,348,821 (GRCm39) |
R669* |
probably null |
Het |
Nhlrc2 |
T |
A |
19: 56,563,280 (GRCm39) |
V293E |
probably damaging |
Het |
Or1e17 |
T |
C |
11: 73,831,276 (GRCm39) |
F68S |
possibly damaging |
Het |
Or2at1 |
A |
G |
7: 99,417,179 (GRCm39) |
D270G |
possibly damaging |
Het |
Or51ag1 |
A |
T |
7: 103,155,295 (GRCm39) |
M286K |
probably benign |
Het |
Or51ai2 |
A |
G |
7: 103,586,770 (GRCm39) |
Q61R |
possibly damaging |
Het |
Otoa |
T |
A |
7: 120,732,147 (GRCm39) |
|
probably null |
Het |
Pcnt |
T |
C |
10: 76,278,393 (GRCm39) |
|
probably benign |
Het |
Recql4 |
G |
T |
15: 76,592,771 (GRCm39) |
Q307K |
possibly damaging |
Het |
Sp140 |
T |
A |
1: 85,570,730 (GRCm39) |
Y453* |
probably null |
Het |
Sspo |
G |
A |
6: 48,461,639 (GRCm39) |
V3600I |
possibly damaging |
Het |
Sybu |
T |
C |
15: 44,536,619 (GRCm39) |
E441G |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,929,553 (GRCm39) |
H222Q |
probably damaging |
Het |
Tef |
T |
C |
15: 81,705,496 (GRCm39) |
V173A |
probably benign |
Het |
Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
Tmod4 |
C |
A |
3: 95,032,953 (GRCm39) |
Q30K |
probably benign |
Het |
Tpgs1 |
T |
C |
10: 79,511,322 (GRCm39) |
Y155H |
probably damaging |
Het |
Trib3 |
G |
A |
2: 152,185,070 (GRCm39) |
P60S |
probably benign |
Het |
Ttn |
T |
A |
2: 76,560,550 (GRCm39) |
T20957S |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,234,460 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
C |
9: 67,852,763 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
G |
A |
5: 106,785,180 (GRCm39) |
R456W |
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 |
|
IGL02115:Zc3h4
|
APN |
7 |
16,159,708 (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 |