Incidental Mutation 'R2087:Zc3h4'
ID |
231519 |
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 |
040092-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2087 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16150865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 69
(E69G)
|
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: E61G
|
SMART Domains |
Protein: ENSMUSP00000096386 Gene: ENSMUSG00000059273 AA Change: E61G
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 |
possibly damaging
Transcript: ENSMUST00000209289
AA Change: E69G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214735
|
Meta Mutation Damage Score |
0.0625 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
95% (57/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700021P04Rik |
T |
A |
19: 24,042,364 (GRCm39) |
|
noncoding transcript |
Het |
Adamts8 |
G |
A |
9: 30,873,408 (GRCm39) |
R871Q |
probably damaging |
Het |
Ank1 |
T |
C |
8: 23,583,827 (GRCm39) |
L310S |
probably damaging |
Het |
Atp2a3 |
A |
G |
11: 72,871,274 (GRCm39) |
T592A |
probably damaging |
Het |
Bpifb6 |
A |
G |
2: 153,747,998 (GRCm39) |
D219G |
possibly damaging |
Het |
Catsper4 |
T |
C |
4: 133,953,916 (GRCm39) |
N81S |
probably damaging |
Het |
Ccdc14 |
T |
C |
16: 34,516,015 (GRCm39) |
|
probably null |
Het |
Ces1c |
A |
C |
8: 93,834,230 (GRCm39) |
N353K |
probably benign |
Het |
Chrna6 |
T |
A |
8: 27,897,155 (GRCm39) |
M241L |
probably benign |
Het |
Chtf8 |
T |
A |
8: 107,612,568 (GRCm39) |
R124* |
probably null |
Het |
Cpt1b |
A |
G |
15: 89,306,411 (GRCm39) |
V296A |
probably benign |
Het |
Cryl1 |
G |
A |
14: 57,513,402 (GRCm39) |
S273L |
possibly damaging |
Het |
Ctps1 |
T |
C |
4: 120,420,012 (GRCm39) |
D134G |
probably benign |
Het |
Cyp4f18 |
T |
C |
8: 72,754,832 (GRCm39) |
M138V |
probably benign |
Het |
Dnajb12 |
A |
G |
10: 59,726,667 (GRCm39) |
K107R |
possibly damaging |
Het |
Epha1 |
C |
T |
6: 42,340,502 (GRCm39) |
D590N |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,505,703 (GRCm39) |
V855A |
probably benign |
Het |
Ganc |
A |
G |
2: 120,287,738 (GRCm39) |
Y822C |
probably damaging |
Het |
Hook2 |
A |
G |
8: 85,729,320 (GRCm39) |
D622G |
probably damaging |
Het |
Kcnj8 |
T |
A |
6: 142,511,422 (GRCm39) |
N395I |
probably benign |
Het |
Kdm4b |
T |
C |
17: 56,696,564 (GRCm39) |
S427P |
possibly damaging |
Het |
Krt12 |
A |
G |
11: 99,309,459 (GRCm39) |
F267S |
probably damaging |
Het |
Lrrn2 |
T |
G |
1: 132,865,489 (GRCm39) |
F185V |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,006,963 (GRCm39) |
S764P |
probably benign |
Het |
Mfsd14b |
C |
G |
13: 65,215,796 (GRCm39) |
G386R |
probably damaging |
Het |
Mrm2 |
A |
G |
5: 140,314,155 (GRCm39) |
S227P |
probably damaging |
Het |
Mug1 |
A |
G |
6: 121,833,250 (GRCm39) |
N285S |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,518,557 (GRCm39) |
T1661A |
probably benign |
Het |
Ncoa6 |
G |
A |
2: 155,248,079 (GRCm39) |
R1742* |
probably null |
Het |
Nln |
T |
A |
13: 104,173,877 (GRCm39) |
H548L |
probably damaging |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Or2r3 |
A |
T |
6: 42,448,985 (GRCm39) |
N42K |
probably damaging |
Het |
Or56b34 |
T |
A |
7: 104,937,393 (GRCm39) |
I31N |
probably benign |
Het |
Pgm5 |
T |
C |
19: 24,710,927 (GRCm39) |
Y425C |
probably damaging |
Het |
Pld2 |
A |
G |
11: 70,433,786 (GRCm39) |
D242G |
probably damaging |
Het |
Plekhm1 |
A |
G |
11: 103,287,851 (GRCm39) |
|
probably null |
Het |
Ptdss1 |
T |
C |
13: 67,124,881 (GRCm39) |
|
probably benign |
Het |
Pyroxd2 |
G |
T |
19: 42,722,209 (GRCm39) |
L415I |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,522,075 (GRCm39) |
T291A |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,517,692 (GRCm39) |
I238T |
probably benign |
Het |
Rp1 |
G |
A |
1: 4,418,575 (GRCm39) |
H846Y |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,374,079 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
C |
16: 90,049,313 (GRCm39) |
D258G |
unknown |
Het |
Ska1 |
A |
T |
18: 74,339,920 (GRCm39) |
C9S |
probably benign |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc43a1 |
G |
A |
2: 84,680,175 (GRCm39) |
R107Q |
probably damaging |
Het |
Slc44a3 |
T |
A |
3: 121,319,319 (GRCm39) |
N141Y |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,625,922 (GRCm39) |
D613E |
probably benign |
Het |
Spata22 |
A |
T |
11: 73,231,079 (GRCm39) |
Y111F |
probably benign |
Het |
Tchh |
C |
A |
3: 93,351,225 (GRCm39) |
R222S |
unknown |
Het |
Tekt3 |
A |
G |
11: 62,985,523 (GRCm39) |
D443G |
possibly damaging |
Het |
Tns2 |
A |
T |
15: 102,015,554 (GRCm39) |
Q144L |
possibly damaging |
Het |
Troap |
T |
C |
15: 98,976,698 (GRCm39) |
V274A |
possibly damaging |
Het |
Ugt1a8 |
A |
G |
1: 88,015,995 (GRCm39) |
Y136C |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,718,458 (GRCm39) |
M604L |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,597,639 (GRCm39) |
W1060R |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,042,926 (GRCm39) |
S1942P |
probably damaging |
Het |
Wdr90 |
G |
A |
17: 26,065,577 (GRCm39) |
T1596I |
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 |
|
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'- CCTTCAAACGGCTCCATTGC -3'
(R):5'- CTTTATAAACTGTCCCCAGGCCG -3'
Sequencing Primer
(F):5'- ATTGCAGCCCCTGAGCTCAC -3'
(R):5'- CCGTGGATACTAGGAAAGGTTGATAC -3'
|
Posted On |
2014-09-18 |