Incidental Mutation 'R5449:4921539E11Rik'
ID |
429213 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4921539E11Rik
|
Ensembl Gene |
ENSMUSG00000028520 |
Gene Name |
RIKEN cDNA 4921539E11 gene |
Synonyms |
|
MMRRC Submission |
043014-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5449 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
103087642-103148060 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103123579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 98
(I98F)
|
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 benign
Transcript: ENSMUST00000030245
AA Change: I98F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030245 Gene: ENSMUSG00000028520 AA Change: I98F
Domain | Start | End | E-Value | Type |
Pfam:DUF4545
|
1 |
443 |
6.1e-206 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097944
AA Change: I98F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000095557 Gene: ENSMUSG00000028520 AA Change: I98F
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
A630010A05Rik |
A |
G |
16: 14,436,537 (GRCm39) |
K197E |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,251,737 (GRCm39) |
|
probably null |
Het |
Atad5 |
A |
G |
11: 80,014,934 (GRCm39) |
I1337V |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,662,891 (GRCm39) |
T550A |
probably damaging |
Het |
Cdk5rap2 |
A |
C |
4: 70,194,888 (GRCm39) |
L952V |
probably benign |
Het |
Cep104 |
T |
A |
4: 154,069,762 (GRCm39) |
|
probably null |
Het |
Cfl1 |
A |
G |
19: 5,543,521 (GRCm39) |
*167W |
probably null |
Het |
Col22a1 |
T |
C |
15: 71,693,798 (GRCm39) |
D734G |
unknown |
Het |
Cry1 |
G |
A |
10: 84,968,999 (GRCm39) |
L581F |
probably benign |
Het |
Dmpk |
A |
G |
7: 18,824,916 (GRCm39) |
D406G |
probably benign |
Het |
Faah |
T |
C |
4: 115,856,692 (GRCm39) |
|
probably null |
Het |
Fchsd2 |
T |
C |
7: 100,926,731 (GRCm39) |
F607S |
probably damaging |
Het |
Fga |
CAAAG |
CAAAGAAAG |
3: 82,938,169 (GRCm39) |
|
probably null |
Het |
Hdac5 |
G |
A |
11: 102,086,923 (GRCm39) |
Q46* |
probably null |
Het |
Hltf |
A |
G |
3: 20,123,247 (GRCm39) |
T212A |
possibly damaging |
Het |
Ilvbl |
G |
A |
10: 78,412,862 (GRCm39) |
|
probably null |
Het |
Ldhc |
T |
C |
7: 46,519,082 (GRCm39) |
S102P |
possibly damaging |
Het |
Med12l |
T |
C |
3: 59,167,127 (GRCm39) |
V1529A |
probably damaging |
Het |
Nlrp9a |
A |
G |
7: 26,257,254 (GRCm39) |
I202V |
probably benign |
Het |
Nscme3l |
G |
A |
19: 5,553,292 (GRCm39) |
T163M |
probably benign |
Het |
Pdc |
A |
C |
1: 150,209,190 (GRCm39) |
L224F |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,956,344 (GRCm39) |
V764A |
possibly damaging |
Het |
Plxna1 |
T |
C |
6: 89,300,590 (GRCm39) |
D1578G |
probably damaging |
Het |
Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
Ptrh1 |
A |
G |
2: 32,666,358 (GRCm39) |
S37G |
probably damaging |
Het |
Rgs9 |
T |
C |
11: 109,116,570 (GRCm39) |
D411G |
probably benign |
Het |
Riok3 |
A |
T |
18: 12,288,303 (GRCm39) |
E493D |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,305,902 (GRCm39) |
M570T |
probably benign |
Het |
Scamp2 |
A |
G |
9: 57,488,154 (GRCm39) |
D187G |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,151,346 (GRCm39) |
I819F |
probably damaging |
Het |
Slc7a5 |
C |
A |
8: 122,613,087 (GRCm39) |
W330C |
probably damaging |
Het |
Syn3 |
A |
T |
10: 86,187,434 (GRCm39) |
F230Y |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Tro |
T |
C |
X: 149,428,966 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
T |
A |
2: 120,793,981 (GRCm39) |
M68L |
probably benign |
Het |
Vmn1r120 |
A |
C |
7: 20,787,074 (GRCm39) |
H212Q |
possibly damaging |
Het |
Vmn1r46 |
T |
C |
6: 89,953,343 (GRCm39) |
V64A |
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
Zfp384 |
T |
C |
6: 125,001,101 (GRCm39) |
S58P |
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 |
R0766:4921539E11Rik
|
UTSW |
4 |
103,127,994 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- TCCTGGCAATAGTCACCATACC -3'
(R):5'- CAGCCTTCTGCCTGCGAT -3'
Sequencing Primer
(F):5'- CCACAAGTTCAAGTTCAGTCTGGG -3'
(R):5'- CGATCTGCAAAACAGGAG -3'
|
Posted On |
2016-09-06 |