Incidental Mutation 'R4439:Zc3h4'
| ID |
329674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h4
|
| Ensembl Gene |
ENSMUSG00000059273 |
| Gene Name |
zinc finger CCCH-type containing 4 |
| Synonyms |
Kiaa1064-hp, Bwq1, LOC330474 |
| MMRRC Submission |
041704-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4439 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16163036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 479
(P479S)
|
| 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: P471S
|
| SMART Domains |
Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: P471S
| 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: P479S
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
94% (50/53) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
T |
5: 114,384,557 (GRCm39) |
T2237I |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,754,954 (GRCm39) |
L684Q |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,667,877 (GRCm39) |
Y488F |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,171,696 (GRCm39) |
I824T |
probably benign |
Het |
| Eno2 |
T |
C |
6: 124,739,922 (GRCm39) |
|
probably benign |
Het |
| Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Garem2 |
G |
T |
5: 30,318,344 (GRCm39) |
V106L |
possibly damaging |
Het |
| Grk3 |
A |
T |
5: 113,094,543 (GRCm39) |
|
probably null |
Het |
| H3c2 |
A |
T |
13: 23,936,708 (GRCm39) |
|
probably null |
Het |
| Hint2 |
T |
A |
4: 43,654,919 (GRCm39) |
Y70F |
probably damaging |
Het |
| Ipp |
A |
G |
4: 116,372,274 (GRCm39) |
N101S |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,305,414 (GRCm39) |
|
probably benign |
Het |
| Kcnk4 |
T |
C |
19: 6,910,129 (GRCm39) |
D44G |
probably benign |
Het |
| Kif5c |
T |
C |
2: 49,578,737 (GRCm39) |
S122P |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,368,208 (GRCm39) |
K1171N |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,653 (GRCm39) |
|
noncoding transcript |
Het |
| Pcf11 |
A |
C |
7: 92,307,225 (GRCm39) |
L981R |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,185,399 (GRCm39) |
L153H |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,481,750 (GRCm39) |
S68P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,804,666 (GRCm39) |
V3130A |
probably damaging |
Het |
| Plpp4 |
C |
A |
7: 128,858,813 (GRCm39) |
|
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,970,937 (GRCm39) |
H277L |
probably damaging |
Het |
| Pramel26 |
A |
T |
4: 143,538,143 (GRCm39) |
V276E |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Rd3l |
C |
A |
12: 111,946,092 (GRCm39) |
S63I |
possibly damaging |
Het |
| Scfd2 |
G |
C |
5: 74,558,368 (GRCm39) |
A503G |
possibly damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,455 (GRCm39) |
V549A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,751,405 (GRCm39) |
K54* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,279,712 (GRCm39) |
D206E |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,040,726 (GRCm39) |
F399I |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,425,776 (GRCm39) |
D456E |
probably benign |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,488 (GRCm39) |
H204L |
probably damaging |
Het |
| Vmn2r97 |
G |
T |
17: 19,150,616 (GRCm39) |
A488S |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,935,235 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,279,875 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,149 (GRCm39) |
C202S |
probably damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,453 (GRCm39) |
F93L |
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 |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACTTGGTGGAGCCTTC -3'
(R):5'- GCTTCTGTGGACAATATACTCACC -3'
Sequencing Primer
(F):5'- GGAGCCTTCTGATGTGACTTC -3'
(R):5'- TCTGTGGACAATATACTCACCTCACG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation