Incidental Mutation 'R1208:4930432E11Rik'
ID |
164823 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930432E11Rik
|
Ensembl Gene |
ENSMUSG00000046958 |
Gene Name |
RIKEN cDNA 4930432E11 gene |
Synonyms |
|
MMRRC Submission |
039277-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1208 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
29255998-29276204 bp(+) (GRCm39) |
Type of Mutation |
exon |
DNA Base Change (assembly) |
C to A
at 29260708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000053635
|
SMART Domains |
Protein: ENSMUSP00000049518 Gene: ENSMUSG00000046958
Domain | Start | End | E-Value | Type |
Blast:WD40
|
43 |
79 |
3e-11 |
BLAST |
WD40
|
131 |
172 |
1.97e2 |
SMART |
WD40
|
175 |
214 |
2.24e-2 |
SMART |
Blast:WD40
|
257 |
296 |
4e-15 |
BLAST |
WD40
|
393 |
437 |
1.32e2 |
SMART |
WD40
|
494 |
533 |
2.15e-4 |
SMART |
low complexity region
|
598 |
617 |
N/A |
INTRINSIC |
low complexity region
|
1082 |
1094 |
N/A |
INTRINSIC |
low complexity region
|
1107 |
1148 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000063585
|
SMART Domains |
Protein: ENSMUSP00000063695 Gene: ENSMUSG00000051976
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
internal_repeat_1
|
35 |
67 |
3.29e-5 |
PROSPERO |
internal_repeat_1
|
73 |
102 |
3.29e-5 |
PROSPERO |
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
coiled coil region
|
161 |
182 |
N/A |
INTRINSIC |
low complexity region
|
216 |
233 |
N/A |
INTRINSIC |
low complexity region
|
239 |
249 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185541
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in 4930432E11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01121:4930432E11Rik
|
APN |
7 |
29,273,426 (GRCm39) |
unclassified |
noncoding transcript |
|
IGL01955:4930432E11Rik
|
APN |
7 |
29,273,420 (GRCm39) |
unclassified |
noncoding transcript |
|
IGL01971:4930432E11Rik
|
APN |
7 |
29,273,987 (GRCm39) |
unclassified |
noncoding transcript |
|
IGL02132:4930432E11Rik
|
APN |
7 |
29,262,704 (GRCm39) |
unclassified |
noncoding transcript |
|
IGL02484:4930432E11Rik
|
APN |
7 |
29,262,777 (GRCm39) |
unclassified |
noncoding transcript |
|
P0016:4930432E11Rik
|
UTSW |
7 |
29,262,537 (GRCm39) |
unclassified |
noncoding transcript |
|
R0051:4930432E11Rik
|
UTSW |
7 |
29,278,526 (GRCm39) |
exon |
noncoding transcript |
|
R0060:4930432E11Rik
|
UTSW |
7 |
29,273,595 (GRCm39) |
unclassified |
noncoding transcript |
|
R0094:4930432E11Rik
|
UTSW |
7 |
29,260,236 (GRCm39) |
exon |
noncoding transcript |
|
R0268:4930432E11Rik
|
UTSW |
7 |
29,274,027 (GRCm39) |
unclassified |
noncoding transcript |
|
R0423:4930432E11Rik
|
UTSW |
7 |
29,261,825 (GRCm39) |
exon |
noncoding transcript |
|
R0478:4930432E11Rik
|
UTSW |
7 |
29,262,014 (GRCm39) |
exon |
noncoding transcript |
|
R0646:4930432E11Rik
|
UTSW |
7 |
29,260,710 (GRCm39) |
exon |
noncoding transcript |
|
R1778:4930432E11Rik
|
UTSW |
7 |
29,260,131 (GRCm39) |
exon |
noncoding transcript |
|
R1779:4930432E11Rik
|
UTSW |
7 |
29,278,591 (GRCm39) |
exon |
noncoding transcript |
|
R1918:4930432E11Rik
|
UTSW |
7 |
29,273,514 (GRCm39) |
unclassified |
noncoding transcript |
|
R2360:4930432E11Rik
|
UTSW |
7 |
29,274,214 (GRCm39) |
unclassified |
noncoding transcript |
|
R3736:4930432E11Rik
|
UTSW |
7 |
29,273,996 (GRCm39) |
unclassified |
noncoding transcript |
|
R3780:4930432E11Rik
|
UTSW |
7 |
29,260,263 (GRCm39) |
exon |
noncoding transcript |
|
R4427:4930432E11Rik
|
UTSW |
7 |
29,278,678 (GRCm39) |
exon |
noncoding transcript |
|
R4835:4930432E11Rik
|
UTSW |
7 |
29,274,326 (GRCm39) |
unclassified |
noncoding transcript |
|
R4929:4930432E11Rik
|
UTSW |
7 |
29,273,467 (GRCm39) |
unclassified |
noncoding transcript |
|
R5042:4930432E11Rik
|
UTSW |
7 |
29,273,927 (GRCm39) |
unclassified |
noncoding transcript |
|
R5129:4930432E11Rik
|
UTSW |
7 |
29,260,786 (GRCm39) |
exon |
noncoding transcript |
|
R5371:4930432E11Rik
|
UTSW |
7 |
29,261,918 (GRCm39) |
exon |
noncoding transcript |
|
R5381:4930432E11Rik
|
UTSW |
7 |
29,262,393 (GRCm39) |
unclassified |
noncoding transcript |
|
R5586:4930432E11Rik
|
UTSW |
7 |
29,277,153 (GRCm39) |
unclassified |
noncoding transcript |
|
R5874:4930432E11Rik
|
UTSW |
7 |
29,280,610 (GRCm39) |
exon |
noncoding transcript |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGCCACAGAACACCTTCTATG -3'
(R):5'- CAGGAAGCGCAGTAAACTGTCCTC -3'
Sequencing Primer
(F):5'- CCTTCTATGCTGGAAACAAGAATGG -3'
(R):5'- AGTAAACTGTCCTCTGTGGCAC -3'
|
Posted On |
2014-03-28 |