Incidental Mutation 'R1530:Zc3h7b'
ID |
166586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7b
|
Ensembl Gene |
ENSMUSG00000022390 |
Gene Name |
zinc finger CCCH type containing 7B |
Synonyms |
Scrg3 |
MMRRC Submission |
039569-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R1530 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 81661289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 376
(P376L)
|
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: P376L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105181 Gene: ENSMUSG00000022390 AA Change: P376L
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 |
noncoding transcript
Transcript: ENSMUST00000230590
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230946
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231108
|
Meta Mutation Damage Score |
0.0709 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
T |
C |
5: 137,567,640 (GRCm39) |
C425R |
probably damaging |
Het |
Adam15 |
A |
G |
3: 89,257,137 (GRCm39) |
S20P |
probably damaging |
Het |
Adgra3 |
G |
A |
5: 50,118,479 (GRCm39) |
T1023I |
probably benign |
Het |
Angel2 |
T |
A |
1: 190,671,285 (GRCm39) |
V46E |
probably damaging |
Het |
Ankrd13c |
T |
A |
3: 157,697,358 (GRCm39) |
M321K |
probably damaging |
Het |
Atad2b |
C |
T |
12: 4,992,018 (GRCm39) |
R206* |
probably null |
Het |
Atp10b |
T |
A |
11: 43,088,351 (GRCm39) |
F319Y |
probably benign |
Het |
AW554918 |
A |
G |
18: 25,533,161 (GRCm39) |
R272G |
probably damaging |
Het |
Bpi |
T |
A |
2: 158,103,065 (GRCm39) |
I70N |
probably damaging |
Het |
Brca1 |
T |
C |
11: 101,415,521 (GRCm39) |
D871G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,312,689 (GRCm39) |
A160T |
probably damaging |
Het |
Cenpe |
T |
C |
3: 134,952,663 (GRCm39) |
L1451P |
possibly damaging |
Het |
Chmp7 |
A |
G |
14: 69,969,937 (GRCm39) |
M1T |
probably null |
Het |
Csrnp1 |
G |
C |
9: 119,802,612 (GRCm39) |
Q200E |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,621,074 (GRCm39) |
P545S |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,794,662 (GRCm39) |
E107G |
probably benign |
Het |
Errfi1 |
A |
G |
4: 150,949,843 (GRCm39) |
I49V |
probably benign |
Het |
Fam171b |
T |
C |
2: 83,710,533 (GRCm39) |
L735S |
probably damaging |
Het |
Fancm |
T |
A |
12: 65,139,264 (GRCm39) |
|
probably null |
Het |
Fbp2 |
G |
C |
13: 62,984,973 (GRCm39) |
P316R |
probably damaging |
Het |
Fcer2a |
C |
A |
8: 3,732,976 (GRCm39) |
G255V |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,374,737 (GRCm39) |
I704N |
probably damaging |
Het |
Fzd2 |
T |
C |
11: 102,496,134 (GRCm39) |
S193P |
probably benign |
Het |
Gak |
A |
G |
5: 108,772,059 (GRCm39) |
V86A |
probably damaging |
Het |
Gas2l3 |
A |
G |
10: 89,269,631 (GRCm39) |
I7T |
probably benign |
Het |
Gbp11 |
T |
C |
5: 105,475,355 (GRCm39) |
H331R |
probably damaging |
Het |
Gpr19 |
C |
T |
6: 134,846,961 (GRCm39) |
V241M |
probably damaging |
Het |
Grk6 |
G |
A |
13: 55,606,612 (GRCm39) |
A437T |
probably damaging |
Het |
Hip1 |
T |
C |
5: 135,473,634 (GRCm39) |
D253G |
probably damaging |
Het |
Ifna9 |
G |
C |
4: 88,510,409 (GRCm39) |
Q72E |
possibly damaging |
Het |
Il1r1 |
A |
G |
1: 40,351,521 (GRCm39) |
T384A |
probably benign |
Het |
Ip6k1 |
C |
A |
9: 107,922,761 (GRCm39) |
C221* |
probably null |
Het |
Kcna1 |
C |
A |
6: 126,619,494 (GRCm39) |
E275D |
probably benign |
Het |
Kcnt2 |
C |
T |
1: 140,411,970 (GRCm39) |
Q468* |
probably null |
Het |
Kin |
T |
C |
2: 10,097,150 (GRCm39) |
V333A |
probably damaging |
Het |
Leprot |
G |
T |
4: 101,513,484 (GRCm39) |
V91L |
probably benign |
Het |
Mettl21c |
A |
G |
1: 44,056,344 (GRCm39) |
|
probably null |
Het |
Myom2 |
T |
C |
8: 15,172,384 (GRCm39) |
F1161S |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
Nipal2 |
A |
T |
15: 34,625,168 (GRCm39) |
*72K |
probably null |
Het |
Nol3 |
T |
C |
8: 106,005,858 (GRCm39) |
V84A |
probably benign |
Het |
Or2y16 |
C |
T |
11: 49,334,732 (GRCm39) |
S18L |
probably benign |
Het |
Or4c101 |
A |
T |
2: 88,389,827 (GRCm39) |
I5F |
probably benign |
Het |
Or8b42 |
T |
C |
9: 38,341,620 (GRCm39) |
I14T |
probably damaging |
Het |
Pcare |
A |
G |
17: 72,056,473 (GRCm39) |
V1068A |
probably benign |
Het |
Pdgfra |
T |
A |
5: 75,349,671 (GRCm39) |
|
probably null |
Het |
Pik3cb |
T |
C |
9: 98,936,026 (GRCm39) |
D802G |
probably damaging |
Het |
Plac8l1 |
A |
T |
18: 42,311,996 (GRCm39) |
V141E |
probably damaging |
Het |
Plxnb2 |
A |
G |
15: 89,051,395 (GRCm39) |
S275P |
probably benign |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,552,009 (GRCm39) |
I959K |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,324,628 (GRCm39) |
K1400R |
probably damaging |
Het |
Sel1l |
A |
G |
12: 91,793,458 (GRCm39) |
S263P |
probably damaging |
Het |
Setd5 |
G |
A |
6: 113,086,874 (GRCm39) |
V34I |
probably damaging |
Het |
Slc34a1 |
A |
G |
13: 24,003,052 (GRCm39) |
D234G |
probably damaging |
Het |
Spink5 |
T |
A |
18: 44,148,738 (GRCm39) |
S934T |
probably damaging |
Het |
St18 |
A |
C |
1: 6,915,793 (GRCm39) |
|
probably null |
Het |
St3gal4 |
T |
C |
9: 34,963,592 (GRCm39) |
I239V |
probably benign |
Het |
Stag3 |
C |
T |
5: 138,295,674 (GRCm39) |
T399I |
probably damaging |
Het |
Syt11 |
T |
C |
3: 88,669,674 (GRCm39) |
K6E |
probably damaging |
Het |
Taf15 |
T |
C |
11: 83,378,122 (GRCm39) |
Y121H |
possibly damaging |
Het |
Tdh |
T |
C |
14: 63,733,504 (GRCm39) |
Y113C |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm39) |
W406R |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,993,202 (GRCm39) |
I563V |
possibly damaging |
Het |
Tmem131 |
A |
G |
1: 36,866,090 (GRCm39) |
|
probably null |
Het |
Tmub2 |
T |
C |
11: 102,178,312 (GRCm39) |
S72P |
probably benign |
Het |
Trappc13 |
G |
A |
13: 104,286,651 (GRCm39) |
T202I |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,319,202 (GRCm39) |
E449G |
probably damaging |
Het |
Trip11 |
C |
A |
12: 101,879,026 (GRCm39) |
G21V |
unknown |
Het |
Ttll12 |
G |
A |
15: 83,472,856 (GRCm39) |
R127C |
probably damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,703,447 (GRCm39) |
Y275F |
probably damaging |
Het |
Xrcc5 |
A |
G |
1: 72,369,103 (GRCm39) |
D319G |
probably damaging |
Het |
Zc3h14 |
T |
G |
12: 98,751,262 (GRCm39) |
C159W |
probably damaging |
Het |
Zfhx3 |
C |
T |
8: 109,675,121 (GRCm39) |
P2057L |
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 |
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 |
R9802:Zc3h7b
|
UTSW |
15 |
81,676,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGAATGTCATACCCACACGG -3'
(R):5'- TGATCTAGAGTGAGACATCCAGCCC -3'
Sequencing Primer
(F):5'- GTATGCCTAGTGAGCTGCCTC -3'
(R):5'- CTCAAGCTCAGGAAGTGCTG -3'
|
Posted On |
2014-04-13 |