Incidental Mutation 'R5395:Zc3h7b'
| ID |
426159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7b
|
| Ensembl Gene |
ENSMUSG00000022390 |
| Gene Name |
zinc finger CCCH type containing 7B |
| Synonyms |
Scrg3 |
| MMRRC Submission |
042967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R5395 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81656702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 173
(R173K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
[ENSMUST00000230946]
|
| AlphaFold |
F8VPP8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109554
AA Change: R173K
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: R173K
| 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 benign
Transcript: ENSMUST00000230946
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231108
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,874,590 (GRCm39) |
I268V |
probably benign |
Het |
| Actn1 |
T |
A |
12: 80,217,477 (GRCm39) |
I782F |
probably benign |
Het |
| Adamdec1 |
A |
C |
14: 68,808,352 (GRCm39) |
S333A |
probably benign |
Het |
| Agbl5 |
C |
A |
5: 31,047,682 (GRCm39) |
T58N |
probably damaging |
Het |
| Apoo-ps |
T |
A |
13: 107,550,993 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef10l |
T |
C |
4: 140,297,601 (GRCm39) |
N277S |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,609,273 (GRCm39) |
E241G |
possibly damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,706 (GRCm39) |
Y835* |
probably null |
Het |
| Atp13a4 |
A |
G |
16: 29,275,422 (GRCm39) |
V354A |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,716,075 (GRCm39) |
S426P |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,861,175 (GRCm39) |
R48G |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,248,379 (GRCm39) |
S397P |
possibly damaging |
Het |
| Ccng2 |
T |
C |
5: 93,417,257 (GRCm39) |
M91T |
possibly damaging |
Het |
| Clk3 |
G |
A |
9: 57,660,622 (GRCm39) |
T473M |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,960 (GRCm39) |
H491Q |
probably benign |
Het |
| Cyp4f40 |
C |
T |
17: 32,888,827 (GRCm39) |
T202I |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,692,140 (GRCm39) |
F181I |
probably damaging |
Het |
| Fcrl6 |
G |
T |
1: 172,426,287 (GRCm39) |
A170D |
possibly damaging |
Het |
| Fev |
T |
C |
1: 74,921,823 (GRCm39) |
|
probably null |
Het |
| Flnb |
A |
G |
14: 7,883,881 (GRCm38) |
N369S |
probably benign |
Het |
| Flt3 |
A |
G |
5: 147,291,633 (GRCm39) |
F606L |
probably damaging |
Het |
| Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
| Gdnf |
T |
A |
15: 7,864,165 (GRCm39) |
L192Q |
probably damaging |
Het |
| Gjc2 |
A |
T |
11: 59,068,315 (GRCm39) |
C56S |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,889,535 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,800,928 (GRCm39) |
E422G |
probably benign |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,788 (GRCm39) |
S334P |
probably damaging |
Het |
| Icam2 |
A |
T |
11: 106,273,299 (GRCm39) |
|
probably null |
Het |
| Inca1 |
C |
T |
11: 70,581,264 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
C |
12: 119,134,476 (GRCm39) |
C530W |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,431,166 (GRCm39) |
D332G |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,195,455 (GRCm39) |
N234K |
probably benign |
Het |
| Mcm5 |
G |
A |
8: 75,849,654 (GRCm39) |
S542N |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,414,788 (GRCm39) |
N97K |
possibly damaging |
Het |
| Morc2a |
G |
A |
11: 3,638,232 (GRCm39) |
R986H |
possibly damaging |
Het |
| Neu2 |
T |
A |
1: 87,524,397 (GRCm39) |
|
probably null |
Het |
| Nfatc1 |
G |
A |
18: 80,679,235 (GRCm39) |
P718S |
possibly damaging |
Het |
| Nol6 |
G |
A |
4: 41,118,392 (GRCm39) |
|
probably benign |
Het |
| Or10j7 |
A |
T |
1: 173,011,247 (GRCm39) |
Y251* |
probably null |
Het |
| Otogl |
T |
C |
10: 107,652,999 (GRCm39) |
N1118D |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,021,119 (GRCm39) |
I111K |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
| Piwil2 |
G |
T |
14: 70,632,846 (GRCm39) |
N575K |
probably benign |
Het |
| Pou4f2 |
T |
A |
8: 79,161,701 (GRCm39) |
I301F |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,438,215 (GRCm39) |
N409S |
probably damaging |
Het |
| Ptpn21 |
T |
G |
12: 98,681,376 (GRCm39) |
K86T |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,705,927 (GRCm39) |
|
probably null |
Het |
| Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,277 (GRCm39) |
S50G |
probably benign |
Het |
| Sin3a |
G |
A |
9: 57,012,957 (GRCm39) |
R612H |
probably damaging |
Het |
| Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
| Slc20a1 |
A |
T |
2: 129,050,257 (GRCm39) |
N472Y |
probably damaging |
Het |
| Slc35d1 |
C |
T |
4: 103,068,572 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slc7a8 |
C |
A |
14: 54,970,734 (GRCm39) |
G306* |
probably null |
Het |
| Slc9a8 |
T |
A |
2: 167,309,642 (GRCm39) |
F335L |
probably damaging |
Het |
| Smyd1 |
T |
G |
6: 71,196,374 (GRCm39) |
K338T |
possibly damaging |
Het |
| Snd1 |
T |
A |
6: 28,526,183 (GRCm39) |
V187E |
probably damaging |
Het |
| Spag9 |
T |
G |
11: 93,982,577 (GRCm39) |
|
probably null |
Het |
| Tnfsf9 |
C |
A |
17: 57,412,592 (GRCm39) |
T54K |
probably benign |
Het |
| Trim24 |
T |
G |
6: 37,934,679 (GRCm39) |
V798G |
probably damaging |
Het |
| Tyr |
C |
A |
7: 87,121,698 (GRCm39) |
A365S |
probably damaging |
Het |
| Usp43 |
T |
A |
11: 67,788,184 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,385,874 (GRCm39) |
D702G |
probably damaging |
Het |
| Vmn2r72 |
A |
G |
7: 85,400,105 (GRCm39) |
S315P |
possibly damaging |
Het |
| Wdr64 |
T |
A |
1: 175,583,164 (GRCm39) |
F367I |
probably damaging |
Het |
| Zfp493 |
T |
A |
13: 67,931,965 (GRCm39) |
C21* |
probably null |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
| Zpbp2 |
T |
A |
11: 98,449,039 (GRCm39) |
V275D |
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 |
|
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'- TGTGACTTAGAAAGCCAGCAAC -3'
(R):5'- TACAGCTGGTGTCTGCAGTG -3'
Sequencing Primer
(F):5'- AGCAACAGCTCCCAGGG -3'
(R):5'- GTGTTCATTCCTCTTCCCCAGGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation