Incidental Mutation 'R7645:Zc3h7b'
ID |
590499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7b
|
Ensembl Gene |
ENSMUSG00000022390 |
Gene Name |
zinc finger CCCH type containing 7B |
Synonyms |
Scrg3 |
MMRRC Submission |
045701-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R7645 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81664803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 554
(L554P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
|
AlphaFold |
F8VPP8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109554
AA Change: L554P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105181 Gene: ENSMUSG00000022390 AA Change: L554P
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (46/47) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
T |
A |
13: 111,392,789 (GRCm39) |
C375S |
probably benign |
Het |
Adgrg3 |
A |
G |
8: 95,761,392 (GRCm39) |
|
probably benign |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Atg2b |
T |
C |
12: 105,589,689 (GRCm39) |
Y1854C |
probably benign |
Het |
Bcat2 |
T |
A |
7: 45,237,387 (GRCm39) |
N290K |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,879,318 (GRCm39) |
|
probably null |
Het |
Cnot10 |
T |
C |
9: 114,442,705 (GRCm39) |
S501G |
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,644,397 (GRCm39) |
|
probably null |
Het |
Coq2 |
A |
C |
5: 100,808,116 (GRCm39) |
C228W |
probably damaging |
Het |
Cpt2 |
A |
T |
4: 107,764,171 (GRCm39) |
M531K |
possibly damaging |
Het |
Dennd1a |
A |
G |
2: 37,911,375 (GRCm39) |
L204P |
probably damaging |
Het |
Dock9 |
C |
T |
14: 121,835,075 (GRCm39) |
V1305M |
probably benign |
Het |
Dusp16 |
A |
G |
6: 134,702,888 (GRCm39) |
I201T |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,064,630 (GRCm39) |
D370G |
probably benign |
Het |
Fbxl4 |
T |
C |
4: 22,377,037 (GRCm39) |
S158P |
probably damaging |
Het |
Fut10 |
A |
G |
8: 31,726,232 (GRCm39) |
H329R |
possibly damaging |
Het |
Gpr3 |
A |
G |
4: 132,938,640 (GRCm39) |
W11R |
probably damaging |
Het |
H2-M3 |
T |
A |
17: 37,581,620 (GRCm39) |
I94N |
probably damaging |
Het |
Krt7 |
T |
C |
15: 101,310,524 (GRCm39) |
I57T |
probably damaging |
Het |
Ltc4s |
T |
C |
11: 50,129,373 (GRCm39) |
|
probably benign |
Het |
Ms4a6b |
A |
T |
19: 11,501,304 (GRCm39) |
T105S |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,234,923 (GRCm39) |
H592R |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,476,303 (GRCm39) |
E262G |
probably benign |
Het |
Or4x11 |
T |
A |
2: 89,868,091 (GRCm39) |
I276K |
possibly damaging |
Het |
Or5b108 |
T |
C |
19: 13,168,937 (GRCm39) |
V302A |
probably benign |
Het |
Plxnb1 |
T |
A |
9: 108,943,480 (GRCm39) |
S1908T |
probably damaging |
Het |
Polg2 |
A |
T |
11: 106,666,419 (GRCm39) |
M242K |
probably benign |
Het |
Polr3g |
T |
C |
13: 81,842,563 (GRCm39) |
T151A |
unknown |
Het |
Pramel51 |
T |
C |
12: 88,143,028 (GRCm39) |
T392A |
probably damaging |
Het |
Psmb8 |
T |
C |
17: 34,419,186 (GRCm39) |
L160P |
possibly damaging |
Het |
Rab5b |
G |
A |
10: 128,517,260 (GRCm39) |
A176V |
possibly damaging |
Het |
Rreb1 |
T |
C |
13: 38,115,010 (GRCm39) |
C790R |
probably damaging |
Het |
Rufy3 |
A |
G |
5: 88,788,476 (GRCm39) |
T506A |
probably benign |
Het |
Samd11 |
T |
C |
4: 156,340,243 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
C |
18: 58,029,450 (GRCm39) |
F279L |
possibly damaging |
Het |
Slc49a4 |
T |
A |
16: 35,554,438 (GRCm39) |
|
probably null |
Het |
Son |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,183 (GRCm39) |
|
probably benign |
Het |
Srgn |
C |
T |
10: 62,330,757 (GRCm39) |
W116* |
probably null |
Het |
Svil |
A |
G |
18: 5,099,663 (GRCm39) |
E1733G |
probably damaging |
Het |
Tbc1d22a |
C |
T |
15: 86,119,742 (GRCm39) |
P49S |
probably benign |
Het |
Tbc1d9 |
A |
T |
8: 83,969,182 (GRCm39) |
K490M |
probably damaging |
Het |
Tcte1 |
A |
G |
17: 45,845,915 (GRCm39) |
N173S |
probably benign |
Het |
Tmco6 |
C |
T |
18: 36,868,446 (GRCm39) |
R31W |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,730,025 (GRCm39) |
A5155S |
unknown |
Het |
Tyro3 |
T |
C |
2: 119,647,387 (GRCm39) |
Y839H |
probably damaging |
Het |
Zc3h12d |
A |
G |
10: 7,743,340 (GRCm39) |
D370G |
probably benign |
Het |
Zfp352 |
C |
T |
4: 90,113,014 (GRCm39) |
P385S |
probably benign |
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 |
|
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'- TACGGGGATAACTGCACCTTC -3'
(R):5'- TAAATCCTGCACATTCCGGGC -3'
Sequencing Primer
(F):5'- TCGCCTACCATCAGGAGGAGATC -3'
(R):5'- ATTCCGGGCTCCCAAGGAAG -3'
|
Posted On |
2019-10-24 |