Incidental Mutation 'R1566:Zc3h7b'
ID |
175301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h7b
|
Ensembl Gene |
ENSMUSG00000022390 |
Gene Name |
zinc finger CCCH type containing 7B |
Synonyms |
Scrg3 |
MMRRC Submission |
039605-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R1566 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81653035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 19
(S19P)
|
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: S19P
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105181 Gene: ENSMUSG00000022390 AA Change: S19P
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 |
possibly damaging
Transcript: ENSMUST00000230946
AA Change: S19P
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
A |
11: 109,679,632 (GRCm39) |
I247F |
probably benign |
Het |
Afap1l1 |
T |
C |
18: 61,888,714 (GRCm39) |
N119S |
probably benign |
Het |
Ap2a1 |
T |
C |
7: 44,552,904 (GRCm39) |
D721G |
probably benign |
Het |
Ap3m2 |
C |
T |
8: 23,293,967 (GRCm39) |
V28M |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,832,620 (GRCm39) |
T32A |
possibly damaging |
Het |
Avl9 |
C |
T |
6: 56,713,467 (GRCm39) |
R242* |
probably null |
Het |
Bsn |
G |
A |
9: 108,003,184 (GRCm39) |
T407I |
probably benign |
Het |
Capn3 |
A |
T |
2: 120,333,474 (GRCm39) |
R627S |
possibly damaging |
Het |
Car13 |
G |
A |
3: 14,715,758 (GRCm39) |
R92Q |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,268,374 (GRCm39) |
I149T |
possibly damaging |
Het |
Col1a2 |
G |
T |
6: 4,523,613 (GRCm39) |
G514V |
probably damaging |
Het |
Ctsw |
C |
A |
19: 5,515,445 (GRCm39) |
C347F |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Eif1ad8 |
A |
T |
12: 87,564,001 (GRCm39) |
H112L |
probably benign |
Het |
Eml1 |
T |
A |
12: 108,438,151 (GRCm39) |
V97D |
probably damaging |
Het |
Epb41l1 |
A |
G |
2: 156,363,879 (GRCm39) |
E796G |
probably benign |
Het |
Gdnf |
A |
G |
15: 7,863,895 (GRCm39) |
K102R |
probably benign |
Het |
Gm1110 |
T |
C |
9: 26,792,166 (GRCm39) |
E618G |
probably damaging |
Het |
Gmnc |
T |
C |
16: 26,782,689 (GRCm39) |
D22G |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,761,829 (GRCm39) |
D517G |
possibly damaging |
Het |
Gsta1 |
A |
T |
9: 78,149,741 (GRCm39) |
K185* |
probably null |
Het |
Ift88 |
A |
G |
14: 57,678,468 (GRCm39) |
D160G |
probably benign |
Het |
Intu |
T |
A |
3: 40,647,008 (GRCm39) |
I627N |
probably damaging |
Het |
Itgav |
T |
A |
2: 83,566,974 (GRCm39) |
F101L |
probably damaging |
Het |
Kars1 |
C |
T |
8: 112,724,290 (GRCm39) |
V475I |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Klra7 |
A |
G |
6: 130,208,564 (GRCm39) |
V6A |
probably damaging |
Het |
Krtap6-2 |
A |
G |
16: 89,216,626 (GRCm39) |
S114P |
unknown |
Het |
Ldlrad4 |
T |
C |
18: 68,383,669 (GRCm39) |
S122P |
probably benign |
Het |
Lig4 |
C |
A |
8: 10,023,650 (GRCm39) |
L43F |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,986,917 (GRCm39) |
D137G |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,968,110 (GRCm39) |
R149C |
probably damaging |
Het |
Morc2b |
T |
A |
17: 33,355,948 (GRCm39) |
H608L |
probably benign |
Het |
Mrgpra6 |
G |
A |
7: 46,838,652 (GRCm39) |
T182I |
probably benign |
Het |
Nat8l |
C |
A |
5: 34,158,200 (GRCm39) |
N203K |
probably benign |
Het |
Nin |
A |
T |
12: 70,101,253 (GRCm39) |
V448E |
probably damaging |
Het |
Or10a4 |
T |
G |
7: 106,696,759 (GRCm39) |
F29C |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,077 (GRCm39) |
M139L |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,709,903 (GRCm39) |
I227F |
probably damaging |
Het |
Or8k21 |
G |
A |
2: 86,145,129 (GRCm39) |
T167I |
probably benign |
Het |
Pank4 |
T |
C |
4: 155,064,978 (GRCm39) |
L759P |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,743,810 (GRCm39) |
N1152K |
probably damaging |
Het |
Pitpnm3 |
A |
T |
11: 71,949,785 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,618,839 (GRCm39) |
M497T |
possibly damaging |
Het |
Ppfia3 |
T |
C |
7: 44,990,112 (GRCm39) |
D1138G |
probably damaging |
Het |
Prl6a1 |
T |
A |
13: 27,499,410 (GRCm39) |
S59R |
possibly damaging |
Het |
Pth2r |
A |
G |
1: 65,427,697 (GRCm39) |
S457G |
possibly damaging |
Het |
Rbm25 |
T |
A |
12: 83,721,828 (GRCm39) |
N671K |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,397,980 (GRCm39) |
K47N |
unknown |
Het |
Ryr1 |
T |
A |
7: 28,791,600 (GRCm39) |
I1435F |
possibly damaging |
Het |
Scin |
T |
A |
12: 40,131,673 (GRCm39) |
H287L |
probably benign |
Het |
Serpinb9e |
T |
C |
13: 33,437,477 (GRCm39) |
L120P |
probably damaging |
Het |
Slc34a1 |
A |
C |
13: 55,559,844 (GRCm39) |
|
probably null |
Het |
Slc39a10 |
A |
G |
1: 46,875,245 (GRCm39) |
F19S |
possibly damaging |
Het |
Sos1 |
A |
G |
17: 80,761,345 (GRCm39) |
V117A |
probably damaging |
Het |
Spta1 |
C |
A |
1: 174,012,272 (GRCm39) |
N359K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,443,804 (GRCm39) |
|
probably null |
Het |
Stx5a |
T |
A |
19: 8,719,675 (GRCm39) |
D13E |
probably damaging |
Het |
Supt16 |
G |
A |
14: 52,414,112 (GRCm39) |
A489V |
probably damaging |
Het |
Tap1 |
T |
A |
17: 34,408,520 (GRCm39) |
L253Q |
probably benign |
Het |
Tmc6 |
A |
G |
11: 117,660,262 (GRCm39) |
S659P |
probably damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,500,876 (GRCm39) |
D65G |
probably benign |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ugt8a |
T |
C |
3: 125,669,207 (GRCm39) |
Y299C |
probably damaging |
Het |
Upk1a |
A |
G |
7: 30,309,145 (GRCm39) |
V59A |
possibly damaging |
Het |
Usp38 |
T |
C |
8: 81,711,432 (GRCm39) |
T868A |
probably benign |
Het |
Wdsub1 |
G |
A |
2: 59,707,059 (GRCm39) |
H58Y |
probably damaging |
Het |
Zfp385b |
A |
C |
2: 77,246,257 (GRCm39) |
F257V |
probably benign |
Het |
Zmym4 |
A |
C |
4: 126,804,940 (GRCm39) |
I188S |
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 |
|
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'- CCTTGCATCAGAACTGAGTGACTCC -3'
(R):5'- ACCAGAGCCTGCTTGTAGTCCTTC -3'
Sequencing Primer
(F):5'- AACTGAGTGACTCCATGCTG -3'
(R):5'- GGCAAACAGGTTCTGCAC -3'
|
Posted On |
2014-04-24 |