Incidental Mutation 'R6333:AI182371'
| ID |
513218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AI182371
|
| Ensembl Gene |
ENSMUSG00000035875 |
| Gene Name |
expressed sequence AI182371 |
| Synonyms |
|
| MMRRC Submission |
044487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6333 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34971873-34991555 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34975281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 306
(I306K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045776]
[ENSMUST00000134940]
[ENSMUST00000226375]
[ENSMUST00000226631]
[ENSMUST00000226972]
|
| AlphaFold |
A2AS37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045776
AA Change: I306K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037754
Gene: ENSMUSG00000035875
AA Change: I306K
| 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 damaging
Transcript: ENSMUST00000226631
AA Change: I317K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226972
AA Change: I316K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.9%
- 20x: 93.2%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
T |
C |
9: 15,203,372 (GRCm39) |
K111R |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,888,218 (GRCm39) |
Y354C |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,774,427 (GRCm39) |
I424V |
possibly damaging |
Het |
| Asb4 |
G |
A |
6: 5,423,597 (GRCm39) |
R248H |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,071,819 (GRCm39) |
T349A |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,428,944 (GRCm39) |
|
probably null |
Het |
| Cep85l |
G |
A |
10: 53,225,197 (GRCm39) |
Q131* |
probably null |
Het |
| Chmp2b |
T |
A |
16: 65,337,136 (GRCm39) |
M178L |
possibly damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,355 (GRCm39) |
N84D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,637 (GRCm39) |
|
probably null |
Het |
| Defa34 |
T |
C |
8: 22,155,862 (GRCm39) |
V17A |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,653,856 (GRCm39) |
L947Q |
probably damaging |
Het |
| Dynlt2a1 |
G |
A |
17: 15,261,717 (GRCm39) |
|
probably benign |
Het |
| Ell |
A |
G |
8: 71,044,188 (GRCm39) |
Y578C |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,135 (GRCm39) |
M49L |
probably benign |
Het |
| Fbxw19 |
A |
T |
9: 109,323,751 (GRCm39) |
W75R |
probably benign |
Het |
| Fcgr4 |
A |
G |
1: 170,856,838 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Gm13030 |
A |
T |
4: 138,598,708 (GRCm39) |
|
probably null |
Het |
| Hdac9 |
T |
C |
12: 34,102,323 (GRCm39) |
M1058V |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,540 (GRCm39) |
F253S |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,289,266 (GRCm39) |
Y3794H |
probably damaging |
Het |
| Mark4 |
G |
A |
7: 19,177,208 (GRCm39) |
T207M |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,249,382 (GRCm39) |
T304A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,148,275 (GRCm39) |
L2657P |
probably damaging |
Het |
| Nufip1 |
A |
C |
14: 76,349,425 (GRCm39) |
K152N |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,331,860 (GRCm39) |
V381A |
probably benign |
Het |
| Pdss1 |
A |
G |
2: 22,791,778 (GRCm39) |
T30A |
probably damaging |
Het |
| Plrg1 |
A |
G |
3: 82,964,102 (GRCm39) |
T12A |
probably damaging |
Het |
| Ppig |
C |
T |
2: 69,579,902 (GRCm39) |
H479Y |
unknown |
Het |
| Prokr2 |
A |
G |
2: 132,215,898 (GRCm39) |
F188L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,150 (GRCm39) |
N130S |
probably benign |
Het |
| Ptar1 |
G |
A |
19: 23,671,686 (GRCm39) |
D30N |
possibly damaging |
Het |
| Rai14 |
G |
T |
15: 10,575,022 (GRCm39) |
Y645* |
probably null |
Het |
| Rnasek |
T |
C |
11: 70,129,252 (GRCm39) |
Y67C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,354,192 (GRCm39) |
V4023A |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Sctr |
T |
C |
1: 119,984,182 (GRCm39) |
F357L |
probably damaging |
Het |
| Sec14l5 |
G |
A |
16: 4,984,908 (GRCm39) |
V85I |
probably benign |
Het |
| Shld2 |
G |
A |
14: 33,989,565 (GRCm39) |
T447M |
probably damaging |
Het |
| Sirpd |
T |
C |
3: 15,385,671 (GRCm39) |
Y77C |
probably damaging |
Het |
| Spag8 |
T |
C |
4: 43,653,186 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,620,736 (GRCm39) |
D358G |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,423,331 (GRCm39) |
T672A |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,322,821 (GRCm39) |
Q43* |
probably null |
Het |
| Trmt1l |
T |
A |
1: 151,329,685 (GRCm39) |
S543T |
probably benign |
Het |
| Ube4b |
A |
G |
4: 149,432,494 (GRCm39) |
F810S |
probably damaging |
Het |
| Vmn2r104 |
C |
T |
17: 20,249,848 (GRCm39) |
V808I |
probably benign |
Het |
| Zfp3 |
T |
A |
11: 70,662,266 (GRCm39) |
I75N |
probably benign |
Het |
| Zwint |
A |
G |
10: 72,490,784 (GRCm39) |
|
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 |
|
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'- AGTCGTCTGCCTTCCAACTC -3'
(R):5'- TGATGGCAGAGAAAGTCGCT -3'
Sequencing Primer
(F):5'- CCTTATCTGGCATCAATGGGAG -3'
(R):5'- AGTCGCTGTAAGATTCTCAAGCCTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation