Incidental Mutation 'R3900:AI182371'
ID |
308918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AI182371
|
Ensembl Gene |
ENSMUSG00000035875 |
Gene Name |
expressed sequence AI182371 |
Synonyms |
|
MMRRC Submission |
041607-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R3900 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
34971873-34991555 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34975228 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 334
(I334V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045776]
[ENSMUST00000134940]
[ENSMUST00000226375]
[ENSMUST00000226631]
[ENSMUST00000226972]
|
AlphaFold |
A2AS37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045776
AA Change: I324V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000037754 Gene: ENSMUSG00000035875 AA Change: I324V
Domain | Start | End | E-Value | Type |
Pfam:A2M_N
|
133 |
227 |
4.7e-19 |
PFAM |
ANATO
|
284 |
318 |
1.97e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134940
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154817
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226375
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226631
AA Change: I335V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226972
AA Change: I334V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
T |
13: 54,700,781 (GRCm39) |
S212R |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
Apc2 |
C |
A |
10: 80,131,806 (GRCm39) |
|
probably null |
Het |
Bcl6 |
T |
G |
16: 23,796,304 (GRCm39) |
E41A |
possibly damaging |
Het |
Brpf1 |
A |
G |
6: 113,295,394 (GRCm39) |
I674V |
probably benign |
Het |
Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,557,930 (GRCm39) |
H1056R |
probably benign |
Het |
Csgalnact2 |
A |
T |
6: 118,097,975 (GRCm39) |
F122I |
probably damaging |
Het |
Cubn |
C |
A |
2: 13,291,791 (GRCm39) |
|
probably null |
Het |
Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,305,510 (GRCm39) |
Y1561C |
probably damaging |
Het |
Elfn1 |
G |
A |
5: 139,957,719 (GRCm39) |
R241H |
probably damaging |
Het |
Eml5 |
G |
A |
12: 98,791,782 (GRCm39) |
R1245C |
probably damaging |
Het |
Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm6133 |
A |
G |
18: 78,393,365 (GRCm39) |
N120D |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igsf9 |
T |
C |
1: 172,317,125 (GRCm39) |
L35P |
probably damaging |
Het |
Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
Mrgpra1 |
G |
T |
7: 46,985,275 (GRCm39) |
R135S |
possibly damaging |
Het |
Or4c11b |
A |
T |
2: 88,625,273 (GRCm39) |
L182F |
possibly damaging |
Het |
Or8g2b |
A |
G |
9: 39,750,698 (GRCm39) |
|
probably null |
Het |
Otud3 |
T |
C |
4: 138,624,196 (GRCm39) |
N282S |
probably benign |
Het |
Prkar1a |
A |
G |
11: 109,551,901 (GRCm39) |
K130R |
probably benign |
Het |
Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,818,954 (GRCm39) |
D1392E |
probably benign |
Het |
Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
Slc22a18 |
C |
A |
7: 143,033,507 (GRCm39) |
A86E |
probably damaging |
Het |
Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
Smoc1 |
T |
C |
12: 81,214,287 (GRCm39) |
V234A |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,544,030 (GRCm39) |
T4443A |
possibly damaging |
Het |
Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
Trim69 |
A |
G |
2: 122,009,322 (GRCm39) |
T461A |
probably benign |
Het |
Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,206,373 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 38,019,486 (GRCm39) |
D752G |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,580,264 (GRCm39) |
I633N |
possibly damaging |
Het |
Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
Wdr6 |
G |
A |
9: 108,452,968 (GRCm39) |
A305V |
probably damaging |
Het |
Zfp248 |
T |
C |
6: 118,406,527 (GRCm39) |
N253S |
probably damaging |
Het |
|
Other mutations in AI182371 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02338:AI182371
|
APN |
2 |
34,975,728 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02344:AI182371
|
APN |
2 |
34,979,198 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02817:AI182371
|
APN |
2 |
34,990,661 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02961:AI182371
|
APN |
2 |
34,976,124 (GRCm39) |
missense |
possibly damaging |
0.53 |
3-1:AI182371
|
UTSW |
2 |
34,990,619 (GRCm39) |
missense |
probably damaging |
0.99 |
R0041:AI182371
|
UTSW |
2 |
34,975,733 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0084:AI182371
|
UTSW |
2 |
34,975,714 (GRCm39) |
critical splice donor site |
probably null |
|
R0472:AI182371
|
UTSW |
2 |
34,975,218 (GRCm39) |
missense |
probably benign |
0.35 |
R1539:AI182371
|
UTSW |
2 |
34,978,815 (GRCm39) |
missense |
probably damaging |
0.98 |
R1634:AI182371
|
UTSW |
2 |
34,976,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:AI182371
|
UTSW |
2 |
34,978,749 (GRCm39) |
splice site |
probably null |
|
R1898:AI182371
|
UTSW |
2 |
34,990,661 (GRCm39) |
missense |
probably damaging |
0.99 |
R2065:AI182371
|
UTSW |
2 |
34,976,441 (GRCm39) |
critical splice donor site |
probably null |
|
R2155:AI182371
|
UTSW |
2 |
34,975,366 (GRCm39) |
missense |
probably benign |
0.00 |
R3694:AI182371
|
UTSW |
2 |
34,975,764 (GRCm39) |
missense |
probably benign |
0.00 |
R4766:AI182371
|
UTSW |
2 |
34,985,829 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5071:AI182371
|
UTSW |
2 |
34,975,227 (GRCm39) |
missense |
probably benign |
0.17 |
R5500:AI182371
|
UTSW |
2 |
34,990,650 (GRCm39) |
missense |
probably damaging |
0.99 |
R5907:AI182371
|
UTSW |
2 |
34,976,134 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6146:AI182371
|
UTSW |
2 |
34,987,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R6333:AI182371
|
UTSW |
2 |
34,975,281 (GRCm39) |
missense |
probably damaging |
0.99 |
R6729:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
R6732:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
R6742:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
R6781:AI182371
|
UTSW |
2 |
34,974,717 (GRCm39) |
intron |
probably benign |
|
R7196:AI182371
|
UTSW |
2 |
34,976,441 (GRCm39) |
critical splice donor site |
probably null |
|
R7381:AI182371
|
UTSW |
2 |
34,975,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R7458:AI182371
|
UTSW |
2 |
34,976,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7466:AI182371
|
UTSW |
2 |
34,978,753 (GRCm39) |
nonsense |
probably null |
|
R8832:AI182371
|
UTSW |
2 |
34,985,909 (GRCm39) |
missense |
unknown |
|
R8933:AI182371
|
UTSW |
2 |
34,975,714 (GRCm39) |
critical splice donor site |
probably null |
|
R8942:AI182371
|
UTSW |
2 |
34,990,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R8944:AI182371
|
UTSW |
2 |
34,990,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R9690:AI182371
|
UTSW |
2 |
34,990,600 (GRCm39) |
missense |
probably benign |
0.19 |
RF009:AI182371
|
UTSW |
2 |
34,979,209 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1177:AI182371
|
UTSW |
2 |
34,985,771 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTCTTAGTTGCAACAAGGACATG -3'
(R):5'- GTGTGTGGCTACCATTTCAGC -3'
Sequencing Primer
(F):5'- CCTTATCTGGCATCAATGGGAG -3'
(R):5'- GGCTACCATTTCAGCTTCTACATAC -3'
|
Posted On |
2015-04-17 |