Incidental Mutation 'R6742:AI182371'
ID |
530475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AI182371
|
Ensembl Gene |
ENSMUSG00000035875 |
Gene Name |
expressed sequence AI182371 |
Synonyms |
|
MMRRC Submission |
044859-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R6742 (G1)
|
Quality Score |
88.0076 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
34971873-34991555 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to T
at 34974717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045776]
[ENSMUST00000134940]
[ENSMUST00000226375]
[ENSMUST00000226631]
[ENSMUST00000226972]
|
AlphaFold |
A2AS37 |
Predicted Effect |
unknown
Transcript: ENSMUST00000045776
AA Change: H345N
|
SMART Domains |
Protein: ENSMUSP00000037754 Gene: ENSMUSG00000035875 AA Change: H345N
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226972
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,654,995 (GRCm39) |
R1440G |
probably benign |
Het |
Abca13 |
T |
A |
11: 9,278,168 (GRCm39) |
L3116Q |
probably damaging |
Het |
Adgb |
G |
A |
10: 10,287,593 (GRCm39) |
H55Y |
probably damaging |
Het |
Ank3 |
T |
C |
10: 69,827,412 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
G |
T |
13: 74,501,042 (GRCm39) |
G20W |
probably damaging |
Het |
Ccdc149 |
G |
A |
5: 52,562,475 (GRCm39) |
Q184* |
probably null |
Het |
Cntrob |
G |
A |
11: 69,213,749 (GRCm39) |
P14S |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,077,629 (GRCm39) |
E1288G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,113,640 (GRCm39) |
D1350G |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,701,279 (GRCm39) |
T1990A |
probably damaging |
Het |
Itga2 |
T |
A |
13: 114,973,061 (GRCm39) |
N1166I |
possibly damaging |
Het |
Lmtk2 |
T |
A |
5: 144,085,175 (GRCm39) |
C216S |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,361,132 (GRCm39) |
D557G |
probably benign |
Het |
Lrrc32 |
T |
C |
7: 98,148,039 (GRCm39) |
V273A |
probably benign |
Het |
Nlrp4f |
C |
T |
13: 65,335,254 (GRCm39) |
|
probably null |
Het |
Ntng2 |
T |
G |
2: 29,090,940 (GRCm39) |
M360L |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 133,003,559 (GRCm39) |
S504G |
probably benign |
Het |
Ppfia4 |
A |
C |
1: 134,256,909 (GRCm39) |
L104R |
probably damaging |
Het |
Raph1 |
A |
G |
1: 60,564,879 (GRCm39) |
S203P |
probably damaging |
Het |
Rbl1 |
G |
A |
2: 157,011,918 (GRCm39) |
T679I |
probably benign |
Het |
Rnase4 |
G |
T |
14: 51,342,486 (GRCm39) |
R70L |
probably benign |
Het |
Rnf146 |
A |
C |
10: 29,223,528 (GRCm39) |
D119E |
probably damaging |
Het |
Rrp1b |
A |
G |
17: 32,275,908 (GRCm39) |
H485R |
probably benign |
Het |
Rwdd4a |
T |
A |
8: 48,000,998 (GRCm39) |
|
probably null |
Het |
Scarf2 |
G |
A |
16: 17,624,351 (GRCm39) |
C552Y |
probably damaging |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Sox10 |
T |
C |
15: 79,040,676 (GRCm39) |
N127S |
probably damaging |
Het |
Speer4a1 |
A |
T |
5: 26,241,054 (GRCm39) |
|
probably null |
Het |
Tars1 |
A |
T |
15: 11,394,427 (GRCm39) |
I70N |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,408,815 (GRCm39) |
V736M |
probably damaging |
Het |
Timp3 |
G |
A |
10: 86,136,742 (GRCm39) |
V9M |
probably benign |
Het |
Tnfrsf1a |
A |
T |
6: 125,333,911 (GRCm39) |
N55Y |
probably damaging |
Het |
Trim43a |
G |
A |
9: 88,470,399 (GRCm39) |
V402I |
possibly damaging |
Het |
Tshz2 |
A |
G |
2: 169,725,677 (GRCm39) |
D91G |
probably damaging |
Het |
Ubac1 |
T |
C |
2: 25,895,418 (GRCm39) |
D345G |
possibly damaging |
Het |
Usp4 |
G |
A |
9: 108,251,438 (GRCm39) |
V538I |
possibly damaging |
Het |
Vmn2r19 |
A |
T |
6: 123,306,917 (GRCm39) |
Y475F |
possibly damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,308,396 (GRCm39) |
V614E |
probably damaging |
Het |
Wfdc2 |
A |
T |
2: 164,404,706 (GRCm39) |
T21S |
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,381,277 (GRCm39) |
E109G |
probably damaging |
Het |
Zfp873 |
C |
A |
10: 81,894,256 (GRCm39) |
A19D |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,293 (GRCm39) |
K302N |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,965,114 (GRCm39) |
S401N |
probably benign |
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 |
R3900:AI182371
|
UTSW |
2 |
34,975,228 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
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'- AGCTGCCTATGGTTTCCTGG -3'
(R):5'- CACATCCATCTGTCAAGTCACTG -3'
Sequencing Primer
(F):5'- CCTTGACTCTGGACAGGTG -3'
(R):5'- GCTTCTATGAGGGTGCTCCAC -3'
|
Posted On |
2018-08-01 |