Incidental Mutation 'R4764:Zc3h7b'
ID |
357136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7b
|
Ensembl Gene |
ENSMUSG00000022390 |
Gene Name |
zinc finger CCCH type containing 7B |
Synonyms |
Scrg3 |
MMRRC Submission |
042405-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R4764 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 81653384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
[ENSMUST00000230946]
|
AlphaFold |
F8VPP8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000109554
|
SMART Domains |
Protein: ENSMUSP00000105181 Gene: ENSMUSG00000022390
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230368
|
Predicted Effect |
probably null
Transcript: ENSMUST00000230946
|
Meta Mutation Damage Score |
0.9499 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
99% (78/79) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
G |
5: 146,122,029 (GRCm39) |
S18R |
probably benign |
Het |
2010315B03Rik |
A |
C |
9: 124,056,396 (GRCm39) |
V176G |
probably benign |
Het |
Abcb1a |
T |
A |
5: 8,765,732 (GRCm39) |
|
probably null |
Het |
Acad11 |
C |
A |
9: 103,953,076 (GRCm39) |
P102T |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,501,221 (GRCm39) |
D387V |
probably damaging |
Het |
Akr1c13 |
G |
A |
13: 4,248,496 (GRCm39) |
V234I |
probably benign |
Het |
Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
Arl8a |
C |
A |
1: 135,074,837 (GRCm39) |
A41E |
probably benign |
Het |
Axin1 |
C |
A |
17: 26,392,730 (GRCm39) |
T337K |
possibly damaging |
Het |
Bdp1 |
A |
G |
13: 100,192,775 (GRCm39) |
L1353P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,934,520 (GRCm39) |
V2851E |
probably damaging |
Het |
C9 |
A |
T |
15: 6,489,124 (GRCm39) |
E160D |
probably damaging |
Het |
Cbx6 |
T |
C |
15: 79,712,881 (GRCm39) |
D182G |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,597,678 (GRCm39) |
R242G |
possibly damaging |
Het |
Chst8 |
T |
C |
7: 34,375,149 (GRCm39) |
D230G |
probably damaging |
Het |
Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
Cst12 |
A |
G |
2: 148,631,393 (GRCm39) |
E38G |
possibly damaging |
Het |
Disp1 |
G |
T |
1: 182,869,660 (GRCm39) |
A920E |
probably damaging |
Het |
Dtna |
T |
G |
18: 23,668,206 (GRCm39) |
|
probably null |
Het |
Elp3 |
T |
A |
14: 65,820,378 (GRCm39) |
H97L |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,624,314 (GRCm39) |
F18L |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,314,769 (GRCm39) |
T138A |
probably benign |
Het |
Foxi2 |
G |
T |
7: 135,012,396 (GRCm39) |
G95C |
probably damaging |
Het |
Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,907,426 (GRCm39) |
D811E |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,608,259 (GRCm39) |
E709V |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,436,200 (GRCm39) |
*499K |
probably null |
Het |
Galc |
C |
T |
12: 98,209,003 (GRCm39) |
G217D |
possibly damaging |
Het |
Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
Gm57858 |
T |
G |
3: 36,064,809 (GRCm39) |
*521C |
probably null |
Het |
Hnrnpul1 |
A |
G |
7: 25,442,436 (GRCm39) |
S269P |
probably benign |
Het |
Hrh1 |
T |
C |
6: 114,457,496 (GRCm39) |
V259A |
probably benign |
Het |
Lef1 |
T |
C |
3: 130,978,382 (GRCm39) |
S167P |
probably benign |
Het |
Mtf2 |
T |
C |
5: 108,241,218 (GRCm39) |
I248T |
probably benign |
Het |
Muc2 |
C |
T |
7: 141,299,345 (GRCm39) |
T130M |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,485,880 (GRCm39) |
F653S |
probably damaging |
Het |
Myo1e |
T |
C |
9: 70,250,417 (GRCm39) |
|
probably null |
Het |
Myo5a |
G |
T |
9: 75,023,618 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,073,489 (GRCm39) |
D118V |
probably damaging |
Het |
Npat |
T |
C |
9: 53,483,920 (GRCm39) |
F1412S |
probably damaging |
Het |
Onecut3 |
G |
T |
10: 80,331,541 (GRCm39) |
A234S |
unknown |
Het |
Or1ad1 |
G |
A |
11: 50,875,602 (GRCm39) |
E25K |
probably benign |
Het |
Or8b37 |
T |
G |
9: 37,959,436 (GRCm39) |
L306R |
probably benign |
Het |
Osbpl6 |
T |
A |
2: 76,376,344 (GRCm39) |
I73K |
probably damaging |
Het |
Otog |
C |
T |
7: 45,937,943 (GRCm39) |
T1884I |
probably benign |
Het |
Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
Pias4 |
A |
G |
10: 80,999,868 (GRCm39) |
Y62H |
possibly damaging |
Het |
Pknox1 |
T |
A |
17: 31,809,687 (GRCm39) |
V97D |
possibly damaging |
Het |
Plekhf1 |
A |
G |
7: 37,921,022 (GRCm39) |
V182A |
probably damaging |
Het |
Plscr4 |
T |
C |
9: 92,366,833 (GRCm39) |
V149A |
probably damaging |
Het |
Polr2l |
A |
T |
7: 141,053,309 (GRCm39) |
L35Q |
probably damaging |
Het |
Ppp3ca |
T |
C |
3: 136,596,250 (GRCm39) |
I305T |
probably damaging |
Het |
Ptprg |
G |
A |
14: 12,122,068 (GRCm38) |
A311T |
probably benign |
Het |
Raet1e |
T |
G |
10: 22,057,231 (GRCm39) |
I185R |
probably damaging |
Het |
Rims1 |
A |
C |
1: 22,518,543 (GRCm39) |
V520G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,416,101 (GRCm39) |
D1670E |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,587,868 (GRCm39) |
I352N |
probably damaging |
Het |
Rtp3 |
T |
C |
9: 110,816,418 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,563,376 (GRCm39) |
|
probably null |
Het |
Sall3 |
A |
G |
18: 81,017,691 (GRCm39) |
V79A |
probably damaging |
Het |
Sdsl |
C |
T |
5: 120,600,119 (GRCm39) |
V93M |
probably damaging |
Het |
Slc7a13 |
A |
G |
4: 19,819,390 (GRCm39) |
N197D |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,709,483 (GRCm39) |
R137* |
probably null |
Het |
Stxbp5 |
C |
A |
10: 9,646,367 (GRCm39) |
R115L |
probably damaging |
Het |
Tcea1 |
G |
A |
1: 4,965,167 (GRCm39) |
R290H |
probably damaging |
Het |
Tmem132e |
A |
T |
11: 82,325,338 (GRCm39) |
T113S |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,398,458 (GRCm39) |
I286N |
probably damaging |
Het |
Trio |
G |
A |
15: 27,732,624 (GRCm39) |
R3086* |
probably null |
Het |
Usp22 |
T |
A |
11: 61,051,462 (GRCm39) |
N294Y |
probably damaging |
Het |
Usp44 |
T |
A |
10: 93,681,933 (GRCm39) |
S128T |
probably benign |
Het |
Zfhx2 |
T |
C |
14: 55,304,372 (GRCm39) |
Y1204C |
possibly 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 |
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 |
R9802:Zc3h7b
|
UTSW |
15 |
81,676,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAACCTGTTTGCCGAGG -3'
(R):5'- GACAATGAGCTCCAATGGGA -3'
Sequencing Primer
(F):5'- AGGGCAACGACCTGTTCC -3'
(R):5'- GCAAGTGCTTTACTGACAGAGCTAC -3'
|
Posted On |
2015-11-11 |