Incidental Mutation 'R7852:Zc3h4'
ID |
606990 |
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 |
045905-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16134835-16171621 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16156392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 303
(S303G)
|
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: S303G
|
SMART Domains |
Protein: ENSMUSP00000096386 Gene: ENSMUSG00000059273 AA Change: S303G
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: S311G
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
4933415A04Rik |
GTGT |
GTGTTTGT |
11: 43,478,253 (GRCm39) |
|
probably null |
Het |
Aco1 |
A |
G |
4: 40,180,263 (GRCm39) |
D388G |
probably benign |
Het |
Adgrl1 |
T |
G |
8: 84,662,187 (GRCm39) |
L1016R |
probably damaging |
Het |
Agmo |
C |
T |
12: 37,292,051 (GRCm39) |
P4L |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,253,514 (GRCm39) |
H1792Q |
probably benign |
Het |
Arhgef40 |
C |
T |
14: 52,229,254 (GRCm39) |
L615F |
unknown |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,452 (GRCm39) |
M121L |
possibly damaging |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,432,033 (GRCm39) |
N622K |
possibly damaging |
Het |
Cfhr1 |
A |
C |
1: 139,484,165 (GRCm39) |
V117G |
probably damaging |
Het |
Dnajb1 |
T |
A |
8: 84,336,834 (GRCm39) |
D201E |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,100,092 (GRCm39) |
N48S |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,179,342 (GRCm39) |
I242T |
possibly damaging |
Het |
Eif1ad10 |
A |
C |
12: 88,216,588 (GRCm39) |
Y95D |
probably damaging |
Het |
Eif1ad3 |
G |
A |
12: 87,843,742 (GRCm39) |
V130M |
unknown |
Het |
Fam193a |
C |
A |
5: 34,568,161 (GRCm39) |
D153E |
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,897 (GRCm39) |
D332Y |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,615,275 (GRCm39) |
I779V |
probably benign |
Het |
Gm29394 |
T |
C |
15: 57,912,172 (GRCm39) |
I11V |
unknown |
Het |
Gm36864 |
ATCAGAAGTTTC |
ATC |
7: 43,886,361 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
G |
A |
14: 45,622,110 (GRCm39) |
P28S |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,069,383 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
T |
6: 142,376,059 (GRCm39) |
F534L |
probably damaging |
Het |
Igdcc4 |
G |
A |
9: 65,027,540 (GRCm39) |
V201I |
probably benign |
Het |
Khdc4 |
T |
A |
3: 88,604,043 (GRCm39) |
S287T |
probably benign |
Het |
Kif12 |
G |
C |
4: 63,086,226 (GRCm39) |
P374A |
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,592 (GRCm39) |
I371N |
probably damaging |
Het |
Lrfn2 |
G |
A |
17: 49,376,972 (GRCm39) |
V18I |
possibly damaging |
Het |
Masp2 |
G |
A |
4: 148,687,189 (GRCm39) |
E24K |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,517,724 (GRCm39) |
N37D |
possibly damaging |
Het |
Med12l |
T |
A |
3: 59,155,332 (GRCm39) |
F1171I |
probably damaging |
Het |
Med22 |
A |
T |
2: 26,800,376 (GRCm39) |
Y18N |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,879,411 (GRCm39) |
N162S |
probably benign |
Het |
Micu2 |
A |
T |
14: 58,169,710 (GRCm39) |
N213K |
probably benign |
Het |
Mpc1 |
C |
T |
17: 8,515,740 (GRCm39) |
T86I |
probably damaging |
Het |
Mto1 |
G |
T |
9: 78,356,820 (GRCm39) |
V112L |
possibly damaging |
Het |
Napepld |
C |
T |
5: 21,888,171 (GRCm39) |
V93I |
probably benign |
Het |
Nkx2-2 |
A |
T |
2: 147,026,189 (GRCm39) |
M183K |
probably damaging |
Het |
Nlrp10 |
A |
G |
7: 108,524,281 (GRCm39) |
S400P |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,108,886 (GRCm39) |
L1331P |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,915 (GRCm39) |
D392V |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,745,874 (GRCm39) |
H56R |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,163 (GRCm39) |
V49A |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,351,845 (GRCm39) |
M250K |
probably damaging |
Het |
Or6c38 |
T |
A |
10: 128,929,385 (GRCm39) |
I153F |
probably benign |
Het |
Patl2 |
C |
T |
2: 122,009,590 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
G |
13: 95,244,205 (GRCm39) |
D78A |
probably damaging |
Het |
Pgls |
T |
A |
8: 72,047,847 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
G |
7: 116,016,693 (GRCm39) |
S355P |
probably benign |
Het |
Pole |
G |
A |
5: 110,454,695 (GRCm39) |
R976Q |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,896 (GRCm39) |
L511S |
probably damaging |
Het |
Prcp |
A |
T |
7: 92,577,900 (GRCm39) |
N390Y |
probably benign |
Het |
Rpgrip1 |
T |
A |
14: 52,383,337 (GRCm39) |
N752K |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,021,098 (GRCm39) |
S8P |
probably benign |
Het |
S100a1 |
C |
A |
3: 90,419,392 (GRCm39) |
A18S |
probably benign |
Het |
Slc25a13 |
A |
G |
6: 6,152,461 (GRCm39) |
F92S |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,121,219 (GRCm39) |
I360T |
probably damaging |
Het |
Slc35f6 |
T |
C |
5: 30,814,159 (GRCm39) |
Y202H |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,400,839 (GRCm39) |
M1K |
probably null |
Het |
Stx8 |
G |
A |
11: 67,860,611 (GRCm39) |
D11N |
probably damaging |
Het |
Vmn2r130 |
A |
G |
17: 23,282,788 (GRCm39) |
N156S |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,892,895 (GRCm39) |
Y748C |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,378 (GRCm39) |
Y90* |
probably null |
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 |
|
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'- AAGGAGCTGAACCAGTACCG -3'
(R):5'- GGCCTGGAGAGATTGATCACTAG -3'
Sequencing Primer
(F):5'- TCCAAGGACAGCCGAGGTC -3'
(R):5'- CTGAATTCAAGGCCAGCTTG -3'
|
Posted On |
2019-12-20 |