Incidental Mutation 'R9458:4921539E11Rik'
| ID |
714701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4921539E11Rik
|
| Ensembl Gene |
ENSMUSG00000028520 |
| Gene Name |
RIKEN cDNA 4921539E11 gene |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R9458 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
103087642-103148060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103141608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 18
(I18L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030245]
[ENSMUST00000097944]
[ENSMUST00000168664]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030245
AA Change: I18L
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: I18L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4545
|
1 |
443 |
6.1e-206 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097944
AA Change: I18L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: I18L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
T |
C |
11: 70,127,731 (GRCm39) |
I64V |
possibly damaging |
Het |
| Arcn1 |
A |
G |
9: 44,671,267 (GRCm39) |
S87P |
probably damaging |
Het |
| Bmp7 |
G |
A |
2: 172,721,268 (GRCm39) |
P269L |
possibly damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,856,709 (GRCm38) |
F467L |
|
Het |
| Clrn2 |
A |
T |
5: 45,617,513 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Col2a1 |
G |
A |
15: 97,876,242 (GRCm39) |
R1192C |
unknown |
Het |
| Col6a6 |
A |
G |
9: 105,586,361 (GRCm39) |
F1887L |
probably benign |
Het |
| Crocc2 |
G |
T |
1: 93,145,516 (GRCm39) |
A1466S |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,049,777 (GRCm39) |
N4313D |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,148,785 (GRCm39) |
E298G |
probably damaging |
Het |
| Eif2b4 |
C |
A |
5: 31,350,609 (GRCm39) |
|
probably benign |
Het |
| Emx1 |
T |
A |
6: 85,181,042 (GRCm39) |
V253D |
probably damaging |
Het |
| Enah |
A |
T |
1: 181,746,107 (GRCm39) |
S654R |
unknown |
Het |
| F2 |
A |
T |
2: 91,461,113 (GRCm39) |
N207K |
probably benign |
Het |
| Flcn |
G |
T |
11: 59,690,208 (GRCm39) |
D281E |
possibly damaging |
Het |
| Fzd7 |
C |
A |
1: 59,523,554 (GRCm39) |
P479Q |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,235,043 (GRCm39) |
N226S |
probably benign |
Het |
| Igfbp6 |
A |
G |
15: 102,057,634 (GRCm39) |
N205S |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,743,407 (GRCm39) |
L1655P |
probably damaging |
Het |
| Mndal |
A |
G |
1: 173,687,749 (GRCm39) |
F495S |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,952,057 (GRCm39) |
K175E |
possibly damaging |
Het |
| Panx2 |
A |
C |
15: 88,952,058 (GRCm39) |
K175T |
probably damaging |
Het |
| Pde6a |
A |
T |
18: 61,387,477 (GRCm39) |
Y456F |
probably damaging |
Het |
| Phf21b |
A |
G |
15: 84,738,995 (GRCm39) |
L22P |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,659,247 (GRCm39) |
I83T |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,296 (GRCm39) |
D52G |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,759,557 (GRCm39) |
S102P |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,352,330 (GRCm39) |
I131S |
probably damaging |
Het |
| Snupn |
A |
T |
9: 56,890,039 (GRCm39) |
I287F |
possibly damaging |
Het |
| Synj1 |
T |
G |
16: 90,766,200 (GRCm39) |
I573L |
probably benign |
Het |
| Tmcc2 |
T |
G |
1: 132,286,747 (GRCm39) |
D568A |
probably damaging |
Het |
| Tmf1 |
G |
T |
6: 97,153,382 (GRCm39) |
H230Q |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,024,246 (GRCm39) |
V810A |
possibly damaging |
Het |
| Vmn1r169 |
T |
C |
7: 23,276,628 (GRCm39) |
S7P |
possibly damaging |
Het |
| Vwce |
A |
G |
19: 10,631,688 (GRCm39) |
T550A |
possibly damaging |
Het |
| Zbtb12 |
T |
C |
17: 35,115,367 (GRCm39) |
V384A |
possibly damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
probably benign |
Het |
| Zscan20 |
T |
C |
4: 128,480,639 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGGCCAGCTCTCTATCACTG -3'
(R):5'- CTGTACCTGGAGCAGTAATAGAGAG -3'
Sequencing Primer
(F):5'- CACTGAGTTACACCCTTGATTAATG -3'
(R):5'- AGGAACTCTCCCCTTATGCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation