Incidental Mutation 'R0336:Zc3h4'
ID |
34114 |
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 |
038545-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0336 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16169103 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1071
(S1071P)
|
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: S1146P
|
SMART Domains |
Protein: ENSMUSP00000096386 Gene: ENSMUSG00000059273 AA Change: S1146P
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: S1071P
|
Meta Mutation Damage Score |
0.0769 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
Validation Efficiency |
98% (62/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,248,481 (GRCm39) |
I2743V |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,939,913 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
A |
G |
15: 74,458,998 (GRCm39) |
I427V |
probably benign |
Het |
Arhgef1 |
T |
A |
7: 24,621,382 (GRCm39) |
F510I |
possibly damaging |
Het |
B3glct |
A |
G |
5: 149,670,057 (GRCm39) |
D342G |
probably damaging |
Het |
Bcl2a1c |
G |
T |
9: 114,159,353 (GRCm39) |
V44F |
probably damaging |
Het |
Brca1 |
A |
G |
11: 101,414,819 (GRCm39) |
V1105A |
probably benign |
Het |
Ccn5 |
C |
A |
2: 163,674,242 (GRCm39) |
A214D |
probably damaging |
Het |
Cep135 |
A |
G |
5: 76,749,349 (GRCm39) |
H272R |
probably benign |
Het |
Coa8 |
T |
C |
12: 111,700,092 (GRCm39) |
|
probably benign |
Het |
Cog1 |
A |
C |
11: 113,553,076 (GRCm39) |
H365P |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,609,627 (GRCm39) |
L293Q |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,894,570 (GRCm39) |
L1493P |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,957,791 (GRCm39) |
Y290C |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Defb39 |
G |
T |
8: 19,102,985 (GRCm39) |
H37N |
possibly damaging |
Het |
Epha3 |
A |
G |
16: 63,387,011 (GRCm39) |
I875T |
probably damaging |
Het |
Fbrsl1 |
A |
G |
5: 110,595,817 (GRCm39) |
S73P |
probably damaging |
Het |
Fga |
T |
C |
3: 82,938,164 (GRCm39) |
S180P |
probably damaging |
Het |
Fndc1 |
C |
T |
17: 7,983,939 (GRCm39) |
R1329Q |
unknown |
Het |
Fyn |
C |
A |
10: 39,402,897 (GRCm39) |
T223K |
possibly damaging |
Het |
Galnt6 |
A |
T |
15: 100,597,087 (GRCm39) |
S360T |
probably damaging |
Het |
Grsf1 |
C |
A |
5: 88,811,012 (GRCm39) |
V336F |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,457,467 (GRCm39) |
Y720N |
probably benign |
Het |
Hivep3 |
G |
A |
4: 119,961,044 (GRCm39) |
E1700K |
probably damaging |
Het |
Ifna6 |
T |
C |
4: 88,746,178 (GRCm39) |
S176P |
probably damaging |
Het |
Lilrb4b |
T |
A |
10: 51,357,389 (GRCm39) |
L75Q |
probably benign |
Het |
Lrig3 |
C |
T |
10: 125,802,574 (GRCm39) |
T77I |
probably benign |
Het |
Mpped1 |
C |
T |
15: 83,720,483 (GRCm39) |
P135L |
probably damaging |
Het |
Mss51 |
T |
A |
14: 20,533,254 (GRCm39) |
I406F |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,155,040 (GRCm39) |
N956D |
probably damaging |
Het |
Or4a27 |
T |
C |
2: 88,559,498 (GRCm39) |
I148M |
possibly damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,577 (GRCm39) |
T243I |
probably benign |
Het |
Polr2a |
C |
T |
11: 69,627,719 (GRCm39) |
R1396Q |
possibly damaging |
Het |
Pramel51 |
T |
C |
12: 88,144,961 (GRCm39) |
I122V |
probably benign |
Het |
Pygm |
C |
T |
19: 6,438,788 (GRCm39) |
R205W |
probably damaging |
Het |
Rfx3 |
A |
G |
19: 27,783,662 (GRCm39) |
M428T |
probably benign |
Het |
Ric1 |
A |
T |
19: 29,565,193 (GRCm39) |
T647S |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,806,234 (GRCm39) |
|
probably null |
Het |
Rnf38 |
A |
T |
4: 44,152,350 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,935,892 (GRCm39) |
I41K |
probably damaging |
Het |
St8sia4 |
T |
A |
1: 95,581,283 (GRCm39) |
D153V |
probably benign |
Het |
Stk33 |
T |
C |
7: 108,930,681 (GRCm39) |
N226S |
probably benign |
Het |
Strn3 |
A |
G |
12: 51,708,391 (GRCm39) |
|
probably null |
Het |
Tlr6 |
G |
T |
5: 65,111,289 (GRCm39) |
N539K |
probably benign |
Het |
Tmem129 |
G |
T |
5: 33,812,946 (GRCm39) |
P134Q |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,678,211 (GRCm39) |
I145V |
probably benign |
Het |
Trap1 |
A |
C |
16: 3,862,490 (GRCm39) |
V596G |
probably damaging |
Het |
Tspan2 |
A |
G |
3: 102,642,343 (GRCm39) |
I11V |
probably null |
Het |
Ttc23 |
A |
T |
7: 67,312,231 (GRCm39) |
H46L |
probably benign |
Het |
Txnip |
T |
A |
3: 96,467,295 (GRCm39) |
D292E |
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,832,387 (GRCm39) |
I18F |
possibly damaging |
Het |
Vmn1r61 |
G |
A |
7: 5,614,066 (GRCm39) |
H83Y |
probably benign |
Het |
Vmn1r82 |
T |
C |
7: 12,039,248 (GRCm39) |
S174P |
probably benign |
Het |
Vmn2r79 |
A |
C |
7: 86,651,287 (GRCm39) |
T229P |
probably benign |
Het |
Vps13b |
T |
G |
15: 35,455,279 (GRCm39) |
Y729* |
probably null |
Het |
Xdh |
C |
T |
17: 74,229,458 (GRCm39) |
V332M |
possibly damaging |
Het |
Xkr5 |
C |
A |
8: 18,990,652 (GRCm39) |
R205L |
possibly damaging |
Het |
Zc3h6 |
A |
G |
2: 128,857,332 (GRCm39) |
H617R |
possibly damaging |
Het |
Zfp597 |
A |
G |
16: 3,684,243 (GRCm39) |
V171A |
probably benign |
Het |
Zfp709 |
T |
C |
8: 72,644,449 (GRCm39) |
F626S |
probably damaging |
Het |
Zfp944 |
C |
A |
17: 22,558,009 (GRCm39) |
D413Y |
probably damaging |
Het |
Zfp979 |
A |
C |
4: 147,697,592 (GRCm39) |
S372R |
possibly 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCAGAGTGAAAAGCCCAGTGATCC -3'
(R):5'- TACAGTCCCAAAGAGAGTGGGCAC -3'
Sequencing Primer
(F):5'- TGTCCCACTGAAGCATCG -3'
(R):5'- ACTGGCAGGTTGTGTACCC -3'
|
Posted On |
2013-05-09 |