Incidental Mutation 'R9802:Zc3h7b'
| ID |
735284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7b
|
| Ensembl Gene |
ENSMUSG00000022390 |
| Gene Name |
zinc finger CCCH type containing 7B |
| Synonyms |
Scrg3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R9802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81676505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 749
(P749L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
|
| AlphaFold |
F8VPP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109554
AA Change: P749L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: P749L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
34 |
113 |
2.3e-12 |
PFAM |
|
Pfam:TPR_1
|
82 |
115 |
2.4e-6 |
PFAM |
|
Pfam:TPR_8
|
82 |
115 |
8.2e-4 |
PFAM |
|
Pfam:TPR_8
|
116 |
143 |
4.8e-3 |
PFAM |
|
low complexity region
|
294 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
482 |
508 |
2.15e1 |
SMART |
|
ZnF_C3H1
|
612 |
638 |
2.03e1 |
SMART |
|
ZnF_C3H1
|
757 |
782 |
8.31e0 |
SMART |
|
ZnF_C2H2
|
843 |
867 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
889 |
914 |
7.81e-1 |
SMART |
|
low complexity region
|
959 |
981 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(9) : Gene trapped(9) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,786,054 (GRCm39) |
D673G |
probably benign |
Het |
| Akr1b1 |
T |
C |
6: 34,283,508 (GRCm39) |
Y292C |
probably benign |
Het |
| Alg8 |
T |
A |
7: 97,027,486 (GRCm39) |
V118E |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,606,220 (GRCm39) |
D2154E |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,245,453 (GRCm39) |
I1029M |
probably damaging |
Het |
| Bltp3b |
G |
A |
10: 89,615,755 (GRCm39) |
V133I |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,368,147 (GRCm39) |
K1039I |
probably damaging |
Het |
| Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,493,104 (GRCm39) |
N1299S |
probably benign |
Het |
| Dclk3 |
A |
G |
9: 111,298,244 (GRCm39) |
D596G |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,561,388 (GRCm39) |
C2090S |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,846,384 (GRCm39) |
D1749G |
unknown |
Het |
| Egr1 |
T |
C |
18: 34,995,674 (GRCm39) |
F152S |
probably damaging |
Het |
| Eln |
C |
A |
5: 134,744,559 (GRCm39) |
A479S |
unknown |
Het |
| Gipc3 |
G |
A |
10: 81,179,097 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
G |
T |
10: 82,574,269 (GRCm39) |
G148* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,684,391 (GRCm39) |
D393G |
probably benign |
Het |
| Hnf4g |
A |
T |
3: 3,699,404 (GRCm39) |
N45Y |
probably benign |
Het |
| Ighd |
G |
A |
12: 113,371,455 (GRCm39) |
P265S |
|
Het |
| Igkv3-10 |
T |
C |
6: 70,550,001 (GRCm39) |
V49A |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,060,745 (GRCm39) |
I852F |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,572,663 (GRCm39) |
V94E |
possibly damaging |
Het |
| Map3k13 |
C |
A |
16: 21,740,518 (GRCm39) |
P615H |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,169,346 (GRCm39) |
W1579R |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,798,494 (GRCm39) |
L785H |
probably damaging |
Het |
| Mrgpra6 |
C |
T |
7: 46,835,533 (GRCm39) |
R296K |
probably benign |
Het |
| Mutyh |
A |
G |
4: 116,676,485 (GRCm39) |
S486G |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,349,370 (GRCm39) |
Y96* |
probably null |
Het |
| Naip1 |
C |
G |
13: 100,562,713 (GRCm39) |
E817D |
probably benign |
Het |
| Nxf1 |
G |
A |
19: 8,739,772 (GRCm39) |
G42D |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,189 (GRCm39) |
Y8023C |
unknown |
Het |
| Opn5 |
G |
A |
17: 42,903,582 (GRCm39) |
T251I |
possibly damaging |
Het |
| Or4c11b |
T |
A |
2: 88,625,491 (GRCm39) |
I255K |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,735,241 (GRCm39) |
L194P |
probably damaging |
Het |
| Prkab1 |
T |
C |
5: 116,162,274 (GRCm39) |
E12G |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,078 (GRCm39) |
F168S |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skint3 |
T |
A |
4: 112,111,094 (GRCm39) |
V73E |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,240,342 (GRCm39) |
C445S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,037,197 (GRCm39) |
E3792G |
probably damaging |
Het |
| T |
G |
A |
17: 8,654,988 (GRCm39) |
V173M |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,799,225 (GRCm39) |
M802T |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,720,482 (GRCm39) |
N499S |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
| Vmn1r195 |
T |
C |
13: 22,463,273 (GRCm39) |
Y248H |
probably damaging |
Het |
| Ybx3 |
G |
A |
6: 131,345,426 (GRCm39) |
R316C |
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,704 (GRCm39) |
K591N |
probably damaging |
Het |
|
| Other mutations in Zc3h7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Zc3h7b
|
APN |
15 |
81,656,000 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01955:Zc3h7b
|
APN |
15 |
81,676,205 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02526:Zc3h7b
|
APN |
15 |
81,677,338 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02582:Zc3h7b
|
APN |
15 |
81,653,341 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02736:Zc3h7b
|
APN |
15 |
81,676,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
F6893:Zc3h7b
|
UTSW |
15 |
81,662,872 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0212:Zc3h7b
|
UTSW |
15 |
81,660,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Zc3h7b
|
UTSW |
15 |
81,653,031 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Zc3h7b
|
UTSW |
15 |
81,666,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Zc3h7b
|
UTSW |
15 |
81,661,199 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1530:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1563:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1565:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1566:Zc3h7b
|
UTSW |
15 |
81,653,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1670:Zc3h7b
|
UTSW |
15 |
81,661,268 (GRCm39) |
missense |
probably benign |
|
|
R1712:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1727:Zc3h7b
|
UTSW |
15 |
81,652,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Zc3h7b
|
UTSW |
15 |
81,676,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2375:Zc3h7b
|
UTSW |
15 |
81,676,703 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2656:Zc3h7b
|
UTSW |
15 |
81,664,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Zc3h7b
|
UTSW |
15 |
81,676,451 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4764:Zc3h7b
|
UTSW |
15 |
81,653,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4815:Zc3h7b
|
UTSW |
15 |
81,677,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Zc3h7b
|
UTSW |
15 |
81,663,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Zc3h7b
|
UTSW |
15 |
81,677,375 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5169:Zc3h7b
|
UTSW |
15 |
81,657,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5395:Zc3h7b
|
UTSW |
15 |
81,656,702 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5407:Zc3h7b
|
UTSW |
15 |
81,670,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5587:Zc3h7b
|
UTSW |
15 |
81,656,059 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5721:Zc3h7b
|
UTSW |
15 |
81,657,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6001:Zc3h7b
|
UTSW |
15 |
81,676,236 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6151:Zc3h7b
|
UTSW |
15 |
81,662,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6248:Zc3h7b
|
UTSW |
15 |
81,667,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Zc3h7b
|
UTSW |
15 |
81,677,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6502:Zc3h7b
|
UTSW |
15 |
81,653,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7248:Zc3h7b
|
UTSW |
15 |
81,655,988 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7397:Zc3h7b
|
UTSW |
15 |
81,653,354 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7450:Zc3h7b
|
UTSW |
15 |
81,667,281 (GRCm39) |
missense |
probably benign |
|
|
R7471:Zc3h7b
|
UTSW |
15 |
81,664,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Zc3h7b
|
UTSW |
15 |
81,662,086 (GRCm39) |
nonsense |
probably null |
|
|
R7645:Zc3h7b
|
UTSW |
15 |
81,664,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Zc3h7b
|
UTSW |
15 |
81,677,851 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7881:Zc3h7b
|
UTSW |
15 |
81,664,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Zc3h7b
|
UTSW |
15 |
81,653,189 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8001:Zc3h7b
|
UTSW |
15 |
81,663,461 (GRCm39) |
nonsense |
probably null |
|
|
R8504:Zc3h7b
|
UTSW |
15 |
81,664,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8856:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8857:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8865:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8866:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8867:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8868:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9071:Zc3h7b
|
UTSW |
15 |
81,677,964 (GRCm39) |
makesense |
probably null |
|
|
R9136:Zc3h7b
|
UTSW |
15 |
81,653,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Zc3h7b
|
UTSW |
15 |
81,661,184 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9701:Zc3h7b
|
UTSW |
15 |
81,676,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTGGTAAGCAGGCACAG -3'
(R):5'- GCATGAATACATAGCTGTGGGTGG -3'
Sequencing Primer
(F):5'- ACTGCCAGAGCCACGTGAG -3'
(R):5'- TACATAGCTGTGGGTGGGCAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation