Incidental Mutation 'R3195:9130401M01Rik'
ID |
267614 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
9130401M01Rik
|
Ensembl Gene |
ENSMUSG00000101892 |
Gene Name |
RIKEN cDNA 9130401M01 gene |
Synonyms |
|
MMRRC Submission |
040616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R3195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57885666-57897690 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57892132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 158
(N158K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100655]
[ENSMUST00000176935]
[ENSMUST00000177176]
[ENSMUST00000185553]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100655
AA Change: N222K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098220 Gene: ENSMUSG00000101892 AA Change: N222K
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
SCOP:d1elwa_
|
49 |
174 |
2e-7 |
SMART |
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
low complexity region
|
241 |
278 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176935
AA Change: N158K
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000134752 Gene: ENSMUSG00000022362 AA Change: N158K
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177176
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185553
|
SMART Domains |
Protein: ENSMUSP00000140805 Gene: ENSMUSG00000101892
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187062
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189159
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
Lilra5 |
G |
A |
7: 4,241,756 (GRCm39) |
G185D |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,615,584 (GRCm39) |
S323P |
possibly damaging |
Het |
Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,257 (GRCm39) |
E137G |
probably damaging |
Het |
Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
Het |
Zfp957 |
A |
G |
14: 79,450,332 (GRCm39) |
V489A |
probably damaging |
Het |
|
Other mutations in 9130401M01Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0316:9130401M01Rik
|
UTSW |
15 |
57,888,765 (GRCm39) |
missense |
probably damaging |
0.96 |
R0318:9130401M01Rik
|
UTSW |
15 |
57,892,370 (GRCm39) |
missense |
probably damaging |
0.96 |
R0322:9130401M01Rik
|
UTSW |
15 |
57,888,768 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0365:9130401M01Rik
|
UTSW |
15 |
57,892,088 (GRCm39) |
missense |
probably benign |
0.00 |
R1019:9130401M01Rik
|
UTSW |
15 |
57,885,823 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1432:9130401M01Rik
|
UTSW |
15 |
57,892,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R3196:9130401M01Rik
|
UTSW |
15 |
57,892,132 (GRCm39) |
missense |
probably benign |
0.31 |
R6439:9130401M01Rik
|
UTSW |
15 |
57,895,444 (GRCm39) |
missense |
probably null |
0.92 |
R6953:9130401M01Rik
|
UTSW |
15 |
57,892,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R7724:9130401M01Rik
|
UTSW |
15 |
57,885,857 (GRCm39) |
missense |
probably benign |
0.03 |
R7739:9130401M01Rik
|
UTSW |
15 |
57,885,875 (GRCm39) |
missense |
probably benign |
0.24 |
R8879:9130401M01Rik
|
UTSW |
15 |
57,885,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R9045:9130401M01Rik
|
UTSW |
15 |
57,892,130 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9257:9130401M01Rik
|
UTSW |
15 |
57,892,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACGTACAGGATTCCTCCATC -3'
(R):5'- TGCCTGCACAAGCTGATTG -3'
Sequencing Primer
(F):5'- GTACAGGATTCCTCCATCCCTAC -3'
(R):5'- GCTGATTGCTTTGCACCCG -3'
|
Posted On |
2015-02-18 |