Incidental Mutation 'R7771:Zc3h4'
| ID |
598568 |
| 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 |
045827-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16163824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 673
(V673A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098789]
[ENSMUST00000209289]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000098789
AA Change: V673A
|
| SMART Domains |
Protein: ENSMUSP00000096386
Gene: ENSMUSG00000059273
AA Change: V673A
| 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: V681A
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,069,535 (GRCm39) |
A1287T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,411 (GRCm39) |
K4565R |
probably damaging |
Het |
| Asb13 |
A |
G |
13: 3,699,463 (GRCm39) |
Y221C |
probably damaging |
Het |
| BB014433 |
C |
T |
8: 15,092,395 (GRCm39) |
V153M |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,952,850 (GRCm39) |
E977G |
probably benign |
Het |
| C3 |
T |
A |
17: 57,522,797 (GRCm39) |
D1029V |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,957,455 (GRCm39) |
E568G |
probably benign |
Het |
| Cdhr2 |
T |
C |
13: 54,866,088 (GRCm39) |
V296A |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,946,702 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
G |
8: 96,491,753 (GRCm39) |
V357A |
probably damaging |
Het |
| Coa3 |
A |
T |
11: 101,169,641 (GRCm39) |
M38K |
possibly damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,947 (GRCm39) |
N255S |
probably benign |
Het |
| Cysrt1 |
T |
C |
2: 25,129,237 (GRCm39) |
S92G |
probably benign |
Het |
| D030056L22Rik |
A |
G |
19: 18,690,842 (GRCm39) |
E52G |
possibly damaging |
Het |
| Derl1 |
T |
C |
15: 57,743,436 (GRCm39) |
D97G |
probably damaging |
Het |
| Ebf3 |
A |
G |
7: 136,911,092 (GRCm39) |
Y141H |
probably damaging |
Het |
| Eci1 |
T |
A |
17: 24,652,125 (GRCm39) |
L49* |
probably null |
Het |
| Gzma |
C |
T |
13: 113,234,829 (GRCm39) |
C54Y |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,291,717 (GRCm39) |
N3403S |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,275,525 (GRCm39) |
N495D |
|
Het |
| Ighv1-23 |
T |
A |
12: 114,728,356 (GRCm39) |
Q22L |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,228,172 (GRCm39) |
C444R |
probably damaging |
Het |
| Kcnj3 |
C |
A |
2: 55,336,949 (GRCm39) |
H272N |
probably damaging |
Het |
| Lrp6 |
C |
T |
6: 134,439,579 (GRCm39) |
C1218Y |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,916,476 (GRCm39) |
M831T |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,636 (GRCm39) |
E121G |
probably damaging |
Het |
| Mzt1 |
A |
T |
14: 99,278,012 (GRCm39) |
I52N |
probably damaging |
Het |
| Or1j11 |
T |
C |
2: 36,312,156 (GRCm39) |
S249P |
possibly damaging |
Het |
| Or52z12 |
A |
G |
7: 103,233,297 (GRCm39) |
I23V |
probably benign |
Het |
| Or7e166 |
T |
A |
9: 19,624,767 (GRCm39) |
F215I |
probably benign |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,962 (GRCm39) |
Y584S |
possibly damaging |
Het |
| Per3 |
A |
T |
4: 151,110,657 (GRCm39) |
D380E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,125,902 (GRCm39) |
L139Q |
probably damaging |
Het |
| Pgap6 |
T |
C |
17: 26,341,047 (GRCm39) |
Y717H |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,013 (GRCm39) |
H658R |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,952,314 (GRCm39) |
Q626* |
probably null |
Het |
| Polr3e |
T |
C |
7: 120,539,801 (GRCm39) |
V542A |
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,050,224 (GRCm39) |
H866L |
possibly damaging |
Het |
| Rnf150 |
A |
G |
8: 83,590,832 (GRCm39) |
E65G |
probably benign |
Het |
| Sema3f |
C |
A |
9: 107,569,625 (GRCm39) |
R100L |
possibly damaging |
Het |
| Skic3 |
A |
G |
13: 76,283,149 (GRCm39) |
H792R |
probably benign |
Het |
| Smim18 |
T |
C |
8: 34,232,370 (GRCm39) |
D83G |
possibly damaging |
Het |
| Snx13 |
T |
A |
12: 35,174,527 (GRCm39) |
D685E |
probably benign |
Het |
| Stat5a |
A |
C |
11: 100,754,045 (GRCm39) |
N125T |
probably benign |
Het |
| Stk24 |
T |
C |
14: 121,575,045 (GRCm39) |
E21G |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,189,516 (GRCm39) |
T923A |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
| Tmprss11b |
A |
T |
5: 86,809,554 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,768,013 (GRCm39) |
I829V |
probably benign |
Het |
| Ttc39a |
T |
C |
4: 109,288,647 (GRCm39) |
Y276H |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,287,460 (GRCm39) |
|
probably null |
Het |
| Wdr73 |
G |
A |
7: 80,542,975 (GRCm39) |
A211V |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,832,760 (GRCm39) |
H137R |
probably damaging |
Het |
| Zp2 |
T |
G |
7: 119,742,865 (GRCm39) |
D89A |
probably damaging |
Het |
| Zpld2 |
A |
T |
4: 133,922,754 (GRCm39) |
N526K |
probably benign |
Het |
| Zranb3 |
A |
C |
1: 127,960,605 (GRCm39) |
Y220D |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,763,048 (GRCm39) |
V316I |
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 |
|
|
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 |
|
|
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'- ATCCTGACATGCCAATGGGTC -3'
(R):5'- AGTACTGTTTCCCTCACTGACAAC -3'
Sequencing Primer
(F):5'- AATGGGTCCTGGCATGAACC -3'
(R):5'- ACAAGAGTCCTTCGGCTCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation