Incidental Mutation 'R8868:Zc3h7b'
| ID |
676109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7b
|
| Ensembl Gene |
ENSMUSG00000022390 |
| Gene Name |
zinc finger CCCH type containing 7B |
| Synonyms |
Scrg3 |
| MMRRC Submission |
068683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
R8868 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81656681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 166
(R166Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
[ENSMUST00000230946]
|
| AlphaFold |
F8VPP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109554
AA Change: R166Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: R166Q
| 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 |
probably benign
Transcript: ENSMUST00000230946
|
| Meta Mutation Damage Score |
0.0832 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
T |
A |
9: 26,890,544 (GRCm39) |
N255Y |
probably damaging |
Het |
| Accsl |
A |
C |
2: 93,696,490 (GRCm39) |
L36R |
probably benign |
Het |
| Acvr2a |
T |
A |
2: 48,763,469 (GRCm39) |
V171E |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,794,451 (GRCm39) |
I491V |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,193,842 (GRCm39) |
|
probably null |
Het |
| Ak9 |
G |
T |
10: 41,258,869 (GRCm39) |
E789* |
probably null |
Het |
| Akr1c19 |
T |
A |
13: 4,293,070 (GRCm39) |
N275K |
probably benign |
Het |
| Alg1 |
A |
G |
16: 5,061,557 (GRCm39) |
H398R |
probably benign |
Het |
| Apol11a |
T |
A |
15: 77,401,209 (GRCm39) |
I232N |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,989,080 (GRCm39) |
I437V |
probably benign |
Het |
| Catsper4 |
A |
G |
4: 133,954,417 (GRCm39) |
|
probably null |
Het |
| Cdhr17 |
G |
A |
5: 17,028,152 (GRCm39) |
G449D |
probably benign |
Het |
| Crnn |
T |
C |
3: 93,055,609 (GRCm39) |
C132R |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,553 (GRCm39) |
H337L |
probably damaging |
Het |
| Dcdc2a |
C |
T |
13: 25,386,266 (GRCm39) |
A380V |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,710,654 (GRCm39) |
N419S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,625,503 (GRCm39) |
D621G |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,694 (GRCm39) |
L448Q |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,042,987 (GRCm39) |
H1922Y |
probably benign |
Het |
| E2f3 |
A |
T |
13: 30,095,301 (GRCm39) |
I329N |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,927,988 (GRCm39) |
V266M |
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,725 (GRCm39) |
T376A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,908,671 (GRCm38) |
T1350A |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,016,077 (GRCm39) |
E999G |
unknown |
Het |
| Hivep1 |
A |
G |
13: 42,312,407 (GRCm39) |
Q1549R |
possibly damaging |
Het |
| Hps6 |
G |
A |
19: 45,992,446 (GRCm39) |
V128M |
possibly damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,402,899 (GRCm39) |
S66P |
possibly damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,187 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,230,488 (GRCm39) |
E451G |
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,132,600 (GRCm39) |
S64T |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,355,452 (GRCm39) |
E332V |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,374,567 (GRCm39) |
|
probably benign |
Het |
| Lrpprc |
C |
A |
17: 85,078,920 (GRCm39) |
G265C |
probably damaging |
Het |
| Nav1 |
G |
T |
1: 135,512,943 (GRCm39) |
A39E |
probably benign |
Het |
| Ogfod1 |
G |
T |
8: 94,773,906 (GRCm39) |
D103Y |
probably damaging |
Het |
| Or7g20 |
T |
G |
9: 18,946,778 (GRCm39) |
Y120D |
probably damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,285 (GRCm39) |
C162Y |
probably damaging |
Het |
| Or8g37 |
A |
G |
9: 39,731,252 (GRCm39) |
T106A |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,755,014 (GRCm39) |
S78T |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,540 (GRCm39) |
V152E |
probably damaging |
Het |
| Sdf2 |
A |
T |
11: 78,136,970 (GRCm39) |
H50L |
probably damaging |
Het |
| Sec1 |
T |
A |
7: 45,328,700 (GRCm39) |
M116L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,114 (GRCm39) |
S53P |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,528,132 (GRCm39) |
Y35C |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,686,751 (GRCm39) |
Y189F |
probably damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Strn4 |
G |
A |
7: 16,560,570 (GRCm39) |
E241K |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,135,578 (GRCm39) |
I510T |
possibly damaging |
Het |
| Svop |
T |
C |
5: 114,170,854 (GRCm39) |
D395G |
probably damaging |
Het |
| Tbc1d14 |
A |
C |
5: 36,728,888 (GRCm39) |
S159R |
probably damaging |
Het |
| Tex50 |
T |
A |
1: 160,984,848 (GRCm39) |
I131F |
possibly damaging |
Het |
| Tssk1 |
A |
G |
16: 17,712,884 (GRCm39) |
K223R |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,252,002 (GRCm39) |
I1565V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,541,938 (GRCm39) |
F33683I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,783,470 (GRCm39) |
M887V |
unknown |
Het |
| Usp45 |
G |
A |
4: 21,815,399 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
C |
T |
3: 108,498,841 (GRCm39) |
|
probably benign |
Het |
| Xirp1 |
A |
G |
9: 119,846,871 (GRCm39) |
S671P |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,274,682 (GRCm39) |
D5G |
probably benign |
Het |
| Zfp260 |
T |
G |
7: 29,804,914 (GRCm39) |
Y271* |
probably null |
Het |
| Zfp369 |
T |
A |
13: 65,445,082 (GRCm39) |
S742T |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,802,015 (GRCm39) |
D87E |
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 |
|
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'- GAATGTGACTTAGAAAGCCAGC -3'
(R):5'- TACAGCTGGTGTCTGCAGTG -3'
Sequencing Primer
(F):5'- TGTGACTTAGAAAGCCAGCAACAG -3'
(R):5'- AGGGTCCTACTGCTCATTCCAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation