Incidental Mutation 'R2299:5031439G07Rik'
| ID |
245279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
5031439G07Rik
|
| Ensembl Gene |
ENSMUSG00000036046 |
| Gene Name |
RIKEN cDNA 5031439G07 gene |
| Synonyms |
|
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84828137-84872503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84837486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 276
(F276V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047144]
[ENSMUST00000165743]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047144
AA Change: F233V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046
AA Change: F233V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2045
|
25 |
264 |
7.4e-123 |
PFAM |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124308
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165743
AA Change: F276V
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128699
Gene: ENSMUSG00000036046
AA Change: F276V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2045
|
71 |
305 |
7.3e-103 |
PFAM |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170863
|
| Meta Mutation Damage Score |
0.0802 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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 |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
| Other mutations in 5031439G07Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:5031439G07Rik
|
APN |
15 |
84,840,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02752:5031439G07Rik
|
APN |
15 |
84,840,042 (GRCm39) |
nonsense |
probably null |
|
|
R0269:5031439G07Rik
|
UTSW |
15 |
84,838,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0899:5031439G07Rik
|
UTSW |
15 |
84,833,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1302:5031439G07Rik
|
UTSW |
15 |
84,837,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:5031439G07Rik
|
UTSW |
15 |
84,839,833 (GRCm39) |
splice site |
probably benign |
|
|
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:5031439G07Rik
|
UTSW |
15 |
84,837,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5721:5031439G07Rik
|
UTSW |
15 |
84,844,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5912:5031439G07Rik
|
UTSW |
15 |
84,839,897 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5971:5031439G07Rik
|
UTSW |
15 |
84,871,863 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6131:5031439G07Rik
|
UTSW |
15 |
84,844,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:5031439G07Rik
|
UTSW |
15 |
84,833,798 (GRCm39) |
nonsense |
probably null |
|
|
R7173:5031439G07Rik
|
UTSW |
15 |
84,833,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7220:5031439G07Rik
|
UTSW |
15 |
84,837,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:5031439G07Rik
|
UTSW |
15 |
84,839,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7956:5031439G07Rik
|
UTSW |
15 |
84,834,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8218:5031439G07Rik
|
UTSW |
15 |
84,839,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8500:5031439G07Rik
|
UTSW |
15 |
84,871,836 (GRCm39) |
missense |
probably benign |
|
|
R8501:5031439G07Rik
|
UTSW |
15 |
84,844,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:5031439G07Rik
|
UTSW |
15 |
84,839,867 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9032:5031439G07Rik
|
UTSW |
15 |
84,844,782 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:5031439G07Rik
|
UTSW |
15 |
84,834,843 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGTCAACCTCAGTCAG -3'
(R):5'- CACACTGGACTGCTTGTTGG -3'
Sequencing Primer
(F):5'- AGGTCAGCCAGTGAGACTC -3'
(R):5'- ACTGCTTGTTGGGCTCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation