Incidental Mutation 'R5519:Zc3h4'
| ID |
431457 |
| 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 |
043078-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 16169157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1089
(T1089S)
|
| 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: T1164S
|
| SMART Domains |
Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: T1164S
| 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: T1089S
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.7%
- 20x: 88.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067K01Rik |
T |
C |
8: 84,729,621 (GRCm39) |
V99A |
possibly damaging |
Het |
| 2510009E07Rik |
A |
G |
16: 21,472,218 (GRCm39) |
S91P |
probably benign |
Het |
| 2810021J22Rik |
G |
A |
11: 58,770,923 (GRCm39) |
S135N |
probably benign |
Het |
| A530084C06Rik |
T |
C |
13: 31,742,702 (GRCm39) |
|
probably benign |
Het |
| Acadsb |
T |
C |
7: 131,031,694 (GRCm39) |
S177P |
probably damaging |
Het |
| Acp3 |
C |
A |
9: 104,168,687 (GRCm39) |
G393W |
probably damaging |
Het |
| Axl |
G |
A |
7: 25,478,087 (GRCm39) |
A204V |
possibly damaging |
Het |
| Birc6 |
A |
T |
17: 74,887,173 (GRCm39) |
M806L |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,255,700 (GRCm39) |
L861P |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,224,451 (GRCm39) |
D53V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,269,335 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
A |
7: 127,318,463 (GRCm39) |
I179L |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,559,930 (GRCm39) |
P1016S |
probably benign |
Het |
| Gm12790 |
G |
A |
4: 101,824,888 (GRCm39) |
P127S |
probably benign |
Het |
| Gsap |
T |
A |
5: 21,494,857 (GRCm39) |
V24E |
probably damaging |
Het |
| Ipp |
T |
C |
4: 116,367,964 (GRCm39) |
F66L |
possibly damaging |
Het |
| Jakmip3 |
T |
C |
7: 138,609,520 (GRCm39) |
I208T |
probably damaging |
Het |
| Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
| Mosmo |
C |
T |
7: 120,329,733 (GRCm39) |
P118L |
probably benign |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or51a42 |
G |
A |
7: 103,708,504 (GRCm39) |
Q102* |
probably null |
Het |
| Padi2 |
A |
G |
4: 140,676,533 (GRCm39) |
D557G |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,906,299 (GRCm39) |
K639N |
probably damaging |
Het |
| Pspc1 |
T |
C |
14: 57,009,413 (GRCm39) |
I140M |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,292,857 (GRCm39) |
I417F |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,162,557 (GRCm39) |
I230F |
probably damaging |
Het |
| Serpinb3b |
A |
G |
1: 107,087,506 (GRCm39) |
M1T |
probably null |
Het |
| Sin3a |
T |
C |
9: 57,025,457 (GRCm39) |
|
probably null |
Het |
| St8sia1 |
T |
C |
6: 142,909,287 (GRCm39) |
N70D |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tpm2 |
T |
G |
4: 43,522,751 (GRCm39) |
D55A |
possibly damaging |
Het |
| Trdv1 |
T |
A |
14: 54,119,405 (GRCm39) |
M22K |
probably benign |
Het |
| Zfp518b |
G |
A |
5: 38,831,441 (GRCm39) |
T188M |
probably damaging |
Het |
| Zfp74 |
G |
T |
7: 29,634,559 (GRCm39) |
A383D |
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 |
|
|
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 |
|
|
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'- AAGGACTCCCAATGCAGGTG -3'
(R):5'- GTGACACTACTGGCAGAAGG -3'
Sequencing Primer
(F):5'- TGGCAAAACTGCAGAGCC -3'
(R):5'- GCCTTTAAAAACGTCCTTCAGGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation