Incidental Mutation 'R3037:Zc3h4'
ID |
264848 |
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 |
040553-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3037 (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 G
at 16155410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 241
(D241G)
|
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: D233G
|
SMART Domains |
Protein: ENSMUSP00000096386 Gene: ENSMUSG00000059273 AA Change: D233G
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: D241G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214735
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3b1 |
T |
C |
13: 94,582,486 (GRCm39) |
|
probably null |
Het |
Bco1 |
A |
G |
8: 117,854,278 (GRCm39) |
Y401C |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,979,380 (GRCm39) |
S645T |
probably damaging |
Het |
Cat |
A |
G |
2: 103,298,122 (GRCm39) |
Y274H |
probably benign |
Het |
Cdh19 |
C |
A |
1: 110,882,337 (GRCm39) |
V52F |
probably damaging |
Het |
Cntnap2 |
G |
A |
6: 45,992,200 (GRCm39) |
V376I |
possibly damaging |
Het |
Dll3 |
A |
G |
7: 27,998,542 (GRCm39) |
L141P |
probably damaging |
Het |
Ets2 |
C |
A |
16: 95,517,109 (GRCm39) |
N280K |
probably benign |
Het |
Fam186a |
G |
T |
15: 99,841,675 (GRCm39) |
P1523Q |
probably damaging |
Het |
Fcgbp |
A |
G |
7: 27,802,127 (GRCm39) |
I1352V |
possibly damaging |
Het |
Fcsk |
A |
T |
8: 111,621,350 (GRCm39) |
|
probably null |
Het |
Gng11 |
A |
G |
6: 4,008,051 (GRCm39) |
E38G |
probably benign |
Het |
Gsdmc2 |
A |
T |
15: 63,705,180 (GRCm39) |
F178I |
probably benign |
Het |
Il11ra1 |
T |
A |
4: 41,765,074 (GRCm39) |
S133R |
possibly damaging |
Het |
Kcnab2 |
T |
A |
4: 152,478,213 (GRCm39) |
I349F |
possibly damaging |
Het |
Kctd10 |
A |
G |
5: 114,513,061 (GRCm39) |
V38A |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,845,901 (GRCm39) |
R777G |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,291,457 (GRCm39) |
D1160E |
probably benign |
Het |
Nanog |
C |
A |
6: 122,690,227 (GRCm39) |
Q186K |
possibly damaging |
Het |
Nlrc3 |
T |
C |
16: 3,770,272 (GRCm39) |
N249S |
probably damaging |
Het |
Nup214 |
A |
T |
2: 31,866,632 (GRCm39) |
T56S |
probably benign |
Het |
Or8k41 |
A |
T |
2: 86,313,987 (GRCm39) |
I33N |
probably damaging |
Het |
Pcdhb1 |
T |
G |
18: 37,398,166 (GRCm39) |
M39R |
probably damaging |
Het |
Pced1a |
A |
C |
2: 130,261,779 (GRCm39) |
D291E |
probably benign |
Het |
Pdia6 |
C |
T |
12: 17,329,646 (GRCm39) |
R261W |
probably damaging |
Het |
Pdlim4 |
C |
A |
11: 53,947,083 (GRCm39) |
G72V |
probably benign |
Het |
Plce1 |
G |
A |
19: 38,766,328 (GRCm39) |
D2104N |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,456,474 (GRCm39) |
L7P |
probably damaging |
Het |
Rad21l |
A |
T |
2: 151,502,700 (GRCm39) |
F170Y |
probably damaging |
Het |
Scaf1 |
T |
C |
7: 44,656,771 (GRCm39) |
|
probably benign |
Het |
Topors |
C |
T |
4: 40,269,673 (GRCm39) |
|
probably null |
Het |
Trpm5 |
G |
A |
7: 142,639,200 (GRCm39) |
T239I |
probably benign |
Het |
Tspan5 |
G |
A |
3: 138,604,116 (GRCm39) |
G167D |
probably damaging |
Het |
Ttyh3 |
C |
A |
5: 140,634,597 (GRCm39) |
|
probably benign |
Het |
Usp15 |
C |
A |
10: 122,999,522 (GRCm39) |
W220L |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,450,191 (GRCm39) |
I146L |
probably benign |
Het |
Ythdf3 |
T |
C |
3: 16,259,355 (GRCm39) |
F501L |
probably benign |
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 |
|
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'- TGCATGGCTTCCTAAAGGAGG -3'
(R):5'- GGAACCTTTTAAAAGTGTGTCTGAC -3'
Sequencing Primer
(F):5'- AGGAAATGGGACCCTATCTTCCTTG -3'
(R):5'- GTGTCTGACACTCCAAGTCTTC -3'
|
Posted On |
2015-02-05 |