Incidental Mutation 'IGL01541:Zc3h4'
| ID |
90162 |
| 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 # |
IGL01541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16168257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 789
(S789G)
|
| 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: S864G
|
| SMART Domains |
Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: S864G
| 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: S789G
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,875,169 (GRCm39) |
H668Y |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,762,205 (GRCm39) |
S505G |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,985,243 (GRCm39) |
H2176Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,572 (GRCm39) |
D2544Y |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,350,283 (GRCm39) |
F88L |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,978,723 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,708,907 (GRCm39) |
V1251A |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,129,955 (GRCm39) |
F273I |
possibly damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,965 (GRCm39) |
C104R |
probably damaging |
Het |
| Ercc3 |
A |
T |
18: 32,381,372 (GRCm39) |
D396V |
possibly damaging |
Het |
| Fga |
A |
T |
3: 82,940,014 (GRCm39) |
D556V |
probably damaging |
Het |
| Frg1 |
C |
T |
8: 41,863,362 (GRCm39) |
|
probably benign |
Het |
| Fto |
T |
C |
8: 92,136,376 (GRCm39) |
Y217H |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,896,606 (GRCm39) |
Y12* |
probably null |
Het |
| Grin3a |
A |
T |
4: 49,792,533 (GRCm39) |
V400E |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,759,855 (GRCm39) |
L682* |
probably null |
Het |
| Igkv6-32 |
A |
G |
6: 70,051,290 (GRCm39) |
I22T |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,215,905 (GRCm39) |
C35R |
probably damaging |
Het |
| Lzts3 |
A |
T |
2: 130,478,126 (GRCm39) |
L324Q |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,069 (GRCm39) |
R453* |
probably null |
Het |
| Naa35 |
T |
A |
13: 59,748,777 (GRCm39) |
H132Q |
probably damaging |
Het |
| Pgm5 |
C |
A |
19: 24,793,777 (GRCm39) |
G296W |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,805,272 (GRCm39) |
C3275S |
probably damaging |
Het |
| Podxl2 |
A |
G |
6: 88,826,331 (GRCm39) |
L325P |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,371,050 (GRCm39) |
|
probably null |
Het |
| Rab12 |
T |
C |
17: 66,804,404 (GRCm39) |
S185G |
probably damaging |
Het |
| Rnf43 |
T |
G |
11: 87,621,046 (GRCm39) |
M313R |
probably null |
Het |
| Rusc2 |
T |
C |
4: 43,415,840 (GRCm39) |
V382A |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,516,618 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,816,770 (GRCm39) |
I10T |
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,033 (GRCm39) |
F304S |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,044,725 (GRCm39) |
V1454I |
probably benign |
Het |
| Tdrd7 |
A |
T |
4: 46,018,551 (GRCm39) |
I722F |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,262,364 (GRCm39) |
T307A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,807,502 (GRCm39) |
R77Q |
probably damaging |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,778 (GRCm39) |
M169I |
probably benign |
Het |
| Zfp629 |
G |
T |
7: 127,211,917 (GRCm39) |
|
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,230,156 (GRCm39) |
R123I |
probably benign |
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 |
|
|
IGL02115:Zc3h4
|
APN |
7 |
16,159,708 (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 |
2013-12-03 |
Incidental Mutation