Incidental Mutation 'R0766:4921539E11Rik'
ID |
69493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921539E11Rik
|
Ensembl Gene |
ENSMUSG00000028520 |
Gene Name |
RIKEN cDNA 4921539E11 gene |
Synonyms |
|
MMRRC Submission |
038946-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R0766 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
103087642-103148060 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103127994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 44
(F44I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030245]
[ENSMUST00000097944]
[ENSMUST00000168664]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030245
AA Change: F44I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030245 Gene: ENSMUSG00000028520 AA Change: F44I
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
443 |
6.1e-206 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097944
AA Change: F44I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095557 Gene: ENSMUSG00000028520 AA Change: F44I
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
270 |
7.3e-116 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168664
|
SMART Domains |
Protein: ENSMUSP00000131846 Gene: ENSMUSG00000028520
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
342 |
4.4e-183 |
PFAM |
|
Meta Mutation Damage Score |
0.2271 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.4%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,653,849 (GRCm39) |
|
probably benign |
Het |
Card14 |
T |
C |
11: 119,215,002 (GRCm39) |
S241P |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
C |
15: 28,448,633 (GRCm39) |
K4232T |
probably null |
Het |
Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
Esd |
T |
C |
14: 74,979,561 (GRCm39) |
S122P |
probably damaging |
Het |
Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
Herc1 |
C |
T |
9: 66,412,122 (GRCm39) |
P4781S |
probably damaging |
Het |
Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
Iqch |
G |
A |
9: 63,389,965 (GRCm39) |
S738L |
probably benign |
Het |
Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,387,861 (GRCm39) |
E1533G |
probably damaging |
Het |
Klrg1 |
T |
C |
6: 122,256,622 (GRCm39) |
M55V |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Otos |
A |
C |
1: 92,573,073 (GRCm39) |
L14R |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
Snai2 |
T |
A |
16: 14,526,111 (GRCm39) |
M254K |
possibly damaging |
Het |
Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tex22 |
A |
G |
12: 113,052,143 (GRCm39) |
N67S |
possibly damaging |
Het |
Trank1 |
T |
G |
9: 111,176,537 (GRCm39) |
S270A |
probably benign |
Het |
Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,862,569 (GRCm39) |
E601G |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
probably damaging |
Het |
|
Other mutations in 4921539E11Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00809:4921539E11Rik
|
APN |
4 |
103,092,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00864:4921539E11Rik
|
APN |
4 |
103,092,895 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01951:4921539E11Rik
|
APN |
4 |
103,092,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02477:4921539E11Rik
|
APN |
4 |
103,127,943 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02606:4921539E11Rik
|
APN |
4 |
103,099,978 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03210:4921539E11Rik
|
APN |
4 |
103,141,635 (GRCm39) |
missense |
probably benign |
0.01 |
BB004:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
BB014:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
R0441:4921539E11Rik
|
UTSW |
4 |
103,092,689 (GRCm39) |
intron |
probably benign |
|
R0455:4921539E11Rik
|
UTSW |
4 |
103,088,180 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0504:4921539E11Rik
|
UTSW |
4 |
103,128,057 (GRCm39) |
splice site |
probably benign |
|
R0636:4921539E11Rik
|
UTSW |
4 |
103,088,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R0799:4921539E11Rik
|
UTSW |
4 |
103,100,101 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1312:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R1713:4921539E11Rik
|
UTSW |
4 |
103,127,964 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1783:4921539E11Rik
|
UTSW |
4 |
103,088,286 (GRCm39) |
missense |
probably damaging |
0.99 |
R1978:4921539E11Rik
|
UTSW |
4 |
103,127,961 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3735:4921539E11Rik
|
UTSW |
4 |
103,123,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R4821:4921539E11Rik
|
UTSW |
4 |
103,092,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R5274:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
R5275:4921539E11Rik
|
UTSW |
4 |
103,092,856 (GRCm39) |
missense |
probably benign |
0.22 |
R5431:4921539E11Rik
|
UTSW |
4 |
103,128,045 (GRCm39) |
missense |
probably benign |
0.00 |
R5449:4921539E11Rik
|
UTSW |
4 |
103,123,579 (GRCm39) |
missense |
probably benign |
|
R6049:4921539E11Rik
|
UTSW |
4 |
103,088,520 (GRCm39) |
missense |
probably benign |
0.05 |
R6277:4921539E11Rik
|
UTSW |
4 |
103,088,668 (GRCm39) |
nonsense |
probably null |
|
R6518:4921539E11Rik
|
UTSW |
4 |
103,123,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R6602:4921539E11Rik
|
UTSW |
4 |
103,112,769 (GRCm39) |
missense |
probably benign |
0.36 |
R6634:4921539E11Rik
|
UTSW |
4 |
103,094,127 (GRCm39) |
critical splice donor site |
probably null |
|
R6992:4921539E11Rik
|
UTSW |
4 |
103,099,990 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7575:4921539E11Rik
|
UTSW |
4 |
103,088,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7927:4921539E11Rik
|
UTSW |
4 |
103,123,539 (GRCm39) |
missense |
probably benign |
0.02 |
R8130:4921539E11Rik
|
UTSW |
4 |
103,092,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R8461:4921539E11Rik
|
UTSW |
4 |
103,112,712 (GRCm39) |
missense |
probably benign |
0.01 |
R8714:4921539E11Rik
|
UTSW |
4 |
103,100,093 (GRCm39) |
missense |
probably benign |
0.10 |
R8798:4921539E11Rik
|
UTSW |
4 |
103,123,574 (GRCm39) |
start gained |
probably benign |
|
R9458:4921539E11Rik
|
UTSW |
4 |
103,141,608 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9462:4921539E11Rik
|
UTSW |
4 |
103,092,964 (GRCm39) |
missense |
probably benign |
0.08 |
R9598:4921539E11Rik
|
UTSW |
4 |
103,088,604 (GRCm39) |
missense |
probably benign |
0.03 |
R9643:4921539E11Rik
|
UTSW |
4 |
103,092,666 (GRCm39) |
missense |
unknown |
|
R9709:4921539E11Rik
|
UTSW |
4 |
103,092,678 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCAGCTACACCAGCCTCAA -3'
(R):5'- gtgtgtTTAGAGAGAAAGGGAGAATGATTCA -3'
Sequencing Primer
(F):5'- cccttgcctctaccttctg -3'
(R):5'- AGAATACTGACCGTCACCAC -3'
|
Posted On |
2013-09-30 |