Incidental Mutation 'RF001:Zc3h4'
ID |
602500 |
Institutional Source |
Beutler Lab
|
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 # |
RF001 (G1)
|
Quality Score |
156.476 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
Type of Mutation |
small insertion (4 aa in frame mutation) |
DNA Base Change (assembly) |
CCC to CCCTGACATGCATCC
at 16163612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098789]
[ENSMUST00000209289]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098789
|
SMART Domains |
Protein: ENSMUSP00000096386 Gene: ENSMUSG00000059273
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 |
probably benign
Transcript: ENSMUST00000209289
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
G |
GTGGCTGCTA |
1: 82,891,311 (GRCm39) |
|
probably benign |
Het |
Acer1 |
A |
G |
17: 57,265,909 (GRCm39) |
V122A |
probably benign |
Het |
Adam34l |
T |
G |
8: 44,079,942 (GRCm39) |
D94A |
possibly damaging |
Het |
Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,693,974 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
C |
CGGAGGCAGAGGA |
10: 81,479,405 (GRCm39) |
|
probably benign |
Het |
Atp13a1 |
C |
A |
8: 70,252,720 (GRCm39) |
A680D |
probably damaging |
Het |
Blm |
CGCCTCCTCCTC |
CGCCTCCTCCTCAGCCTCCTCCTC |
7: 80,162,651 (GRCm39) |
|
probably benign |
Het |
Blm |
CTCCTCC |
CTCCTCCTCCTCGTCCTCC |
7: 80,162,675 (GRCm39) |
|
probably benign |
Het |
Blm |
CTCCTCCTCCTCCTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC |
7: 80,162,654 (GRCm39) |
|
probably benign |
Het |
Cad |
GT |
G |
5: 31,217,556 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
GC |
GCTGTGGCTGTGTC |
19: 47,129,715 (GRCm39) |
|
probably benign |
Het |
Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
Cherp |
GACCTGGA |
G |
8: 73,215,893 (GRCm39) |
|
probably null |
Het |
Chga |
AGC |
AGCTGC |
12: 102,527,682 (GRCm39) |
|
probably benign |
Het |
Coq7 |
A |
G |
7: 118,132,405 (GRCm39) |
S24P |
probably benign |
Het |
Cul1 |
T |
C |
6: 47,501,515 (GRCm39) |
V734A |
possibly damaging |
Het |
Cyb5r4 |
GCCCAGGGATGTGACAGACACACT |
GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT |
9: 86,922,469 (GRCm39) |
|
probably benign |
Het |
Dgkz |
A |
T |
2: 91,770,286 (GRCm39) |
F521I |
possibly damaging |
Het |
Fam171b |
GCAGCA |
GCAGCATCAGCA |
2: 83,643,230 (GRCm39) |
|
probably benign |
Het |
Fat1 |
T |
G |
8: 45,442,003 (GRCm39) |
S1102A |
probably benign |
Het |
Gab3 |
CTT |
CTTTTT |
X: 74,043,624 (GRCm39) |
|
probably benign |
Het |
Gm14412 |
T |
C |
2: 177,008,894 (GRCm39) |
I52V |
probably benign |
Het |
Gm5414 |
T |
C |
15: 101,536,388 (GRCm39) |
E79G |
probably benign |
Het |
Gpc5 |
G |
A |
14: 115,654,590 (GRCm39) |
S470N |
probably benign |
Het |
Grin2b |
A |
G |
6: 136,021,238 (GRCm39) |
V21A |
probably benign |
Het |
Hecw1 |
C |
A |
13: 14,472,009 (GRCm39) |
C553F |
probably damaging |
Het |
Hsd3b6 |
T |
A |
3: 98,713,756 (GRCm39) |
H181L |
probably benign |
Het |
Il2 |
CCAGGTGCTGCTGC |
CC |
3: 37,179,911 (GRCm39) |
|
probably benign |
Het |
Inpp5f |
G |
A |
7: 128,296,807 (GRCm39) |
G1053R |
probably damaging |
Het |
Kcnma1 |
T |
G |
14: 23,361,765 (GRCm39) |
Y1142S |
probably damaging |
Het |
Kctd8 |
T |
C |
5: 69,267,775 (GRCm39) |
K445R |
possibly damaging |
Het |
Kmt2b |
CC |
CCTCCTTC |
7: 30,285,807 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
TG |
TGTTGCGG |
5: 25,520,773 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACCAC |
CACCACCGCCACCGCAACCAC |
1: 83,020,003 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGCCACAGCCACCACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC |
1: 83,019,976 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
GCCACCACAGC |
GCCACCACAGCCACATCCACCACAGC |
1: 83,020,001 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
G |
17: 68,059,897 (GRCm39) |
D662G |
|
Het |
Lce1m |
AC |
ACTGCTGCTGCCCC |
3: 92,925,459 (GRCm39) |
|
probably benign |
Het |
Lce1m |
GCTGCCACC |
GCTGCCACCACTCCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
Lmo4 |
A |
C |
3: 143,907,623 (GRCm39) |
S63A |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,620,836 (GRCm39) |
I952T |
probably benign |
Het |
Lyst |
T |
C |
13: 13,810,426 (GRCm39) |
F699L |
probably benign |
Het |
Matn3 |
T |
A |
12: 9,008,797 (GRCm39) |
D303E |
probably benign |
Het |
Me1 |
A |
G |
9: 86,464,876 (GRCm39) |
Y545H |
probably damaging |
Het |
Mettl3 |
A |
T |
14: 52,537,756 (GRCm39) |
V68E |
probably benign |
Het |
Mptx2 |
T |
C |
1: 173,102,536 (GRCm39) |
N51S |
probably benign |
Het |
Mylk |
A |
G |
16: 34,699,741 (GRCm39) |
D368G |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,131,418 (GRCm39) |
V372A |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,085,433 (GRCm39) |
D5569G |
probably damaging |
Het |
Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,030 (GRCm39) |
|
probably benign |
Het |
P4ha2 |
CCAGGTG |
C |
11: 54,001,061 (GRCm39) |
|
probably benign |
Het |
Pop1 |
G |
A |
15: 34,502,583 (GRCm39) |
G90D |
probably damaging |
Het |
Rbm12 |
CC |
CCGGGTATTGTGGGACCAGTTATTGCGGGAGC |
2: 155,937,995 (GRCm39) |
|
probably benign |
Het |
Sertad4 |
T |
C |
1: 192,529,486 (GRCm39) |
Y110C |
probably damaging |
Het |
Setd1a |
GGTAGTGGT |
GGTAGTGGTAGTAGTGGT |
7: 127,384,486 (GRCm39) |
|
probably benign |
Het |
Smarca2 |
AGC |
AGCCCCGGC |
19: 26,608,421 (GRCm39) |
|
probably benign |
Het |
Smarca2 |
ACA |
ACAACAGCA |
19: 26,608,386 (GRCm39) |
|
probably benign |
Het |
Supt20 |
AGCA |
AGCACCCGCA |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCCGC |
18: 60,968,811 (GRCm39) |
|
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,154,204 (GRCm39) |
F83S |
probably damaging |
Het |
Triobp |
GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA |
GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA |
15: 78,851,227 (GRCm39) |
|
probably benign |
Het |
Vmn1r48 |
A |
T |
6: 90,013,186 (GRCm39) |
M213K |
probably benign |
Het |
Zscan29 |
T |
C |
2: 120,994,477 (GRCm39) |
N503D |
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 |
|
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 |
|
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'- GAGCTGCTGCCTTTCCTTAG -3'
(R):5'- ACCAGGCTCCATTTCCATGC -3'
Sequencing Primer
(F):5'- TCCTTAGCAGCTTCATCACAAG -3'
(R):5'- CCTCTTGCTGCGGGTAGAAG -3'
|
Posted On |
2019-12-04 |