Incidental Mutation 'R1898:AI182371'
ID 212104
Institutional Source Beutler Lab
Gene Symbol AI182371
Ensembl Gene ENSMUSG00000035875
Gene Name expressed sequence AI182371
Synonyms
MMRRC Submission 039918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R1898 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 34971873-34991555 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34990661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 12 (V12A)
Ref Sequence ENSEMBL: ENSMUSP00000154339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045776] [ENSMUST00000134940] [ENSMUST00000226375] [ENSMUST00000226631] [ENSMUST00000226972]
AlphaFold A2AS37
Predicted Effect unknown
Transcript: ENSMUST00000045776
AA Change: V2A
SMART Domains Protein: ENSMUSP00000037754
Gene: ENSMUSG00000035875
AA Change: V2A

DomainStartEndE-ValueType
Pfam:A2M_N 133 227 4.7e-19 PFAM
ANATO 284 318 1.97e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133477
AA Change: F4L
Predicted Effect probably damaging
Transcript: ENSMUST00000134940
AA Change: V12A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154817
Predicted Effect probably damaging
Transcript: ENSMUST00000226375
AA Change: V12A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000226631
AA Change: V12A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000226972
AA Change: V12A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C A 4: 53,071,977 (GRCm39) R1195L probably benign Het
Abca14 A G 7: 119,850,392 (GRCm39) Y748C probably damaging Het
Abca6 A G 11: 110,099,625 (GRCm39) F974S probably damaging Het
Acyp1 T C 12: 85,335,114 (GRCm39) K2E probably benign Het
Ahcy T A 2: 154,904,173 (GRCm39) S355C probably benign Het
Ankrd36 T C 11: 5,525,683 (GRCm39) I215T probably benign Het
Aox1 C T 1: 58,117,601 (GRCm39) R828C probably damaging Het
Atp1a4 T A 1: 172,062,615 (GRCm39) I631F probably damaging Het
Brd10 T C 19: 29,712,532 (GRCm39) N789S possibly damaging Het
Brinp3 T G 1: 146,776,987 (GRCm39) V478G possibly damaging Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Celf2 C T 2: 6,608,975 (GRCm39) V95M probably damaging Het
Chka A T 19: 3,942,205 (GRCm39) E404D probably damaging Het
Clec5a A C 6: 40,558,870 (GRCm39) V72G probably benign Het
Cnn1 T C 9: 22,012,560 (GRCm39) probably null Het
Coq6 A G 12: 84,413,737 (GRCm39) E89G probably benign Het
Cpne6 A T 14: 55,754,485 (GRCm39) I538F possibly damaging Het
Crx G A 7: 15,602,148 (GRCm39) P177S probably damaging Het
Cysltr2 G T 14: 73,266,973 (GRCm39) P246T probably damaging Het
Decr1 A G 4: 15,929,801 (GRCm39) I164T probably damaging Het
Dmtf1 A T 5: 9,178,091 (GRCm39) V315E probably damaging Het
Dnah7b A G 1: 46,275,874 (GRCm39) N2587S probably benign Het
E2f6 C A 12: 16,874,581 (GRCm39) T221K probably benign Het
Fat3 T G 9: 15,871,426 (GRCm39) D3655A probably damaging Het
Fbxw28 G A 9: 109,152,452 (GRCm39) T384I probably benign Het
Fes T A 7: 80,029,659 (GRCm39) I608F probably damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Gabrb2 A G 11: 42,484,659 (GRCm39) K239E possibly damaging Het
Gen1 T C 12: 11,291,609 (GRCm39) R727G probably benign Het
Glb1 T A 9: 114,253,103 (GRCm39) V184E probably damaging Het
Gngt1 A T 6: 3,996,724 (GRCm39) I57F possibly damaging Het
Ice1 T C 13: 70,750,426 (GRCm39) I87V possibly damaging Het
Itih1 A G 14: 30,654,244 (GRCm39) Y674H probably benign Het
Itsn1 T A 16: 91,696,468 (GRCm39) C24S probably damaging Het
Loxl1 A G 9: 58,204,961 (GRCm39) V418A probably damaging Het
Myh10 A G 11: 68,662,732 (GRCm39) N595S probably damaging Het
Myo5c C T 9: 75,204,908 (GRCm39) T1587I probably damaging Het
Npat T A 9: 53,474,937 (GRCm39) F910I probably damaging Het
Nradd T C 9: 110,450,676 (GRCm39) Y167C probably damaging Het
Nt5dc1 T C 10: 34,189,631 (GRCm39) E352G probably benign Het
Numa1 T C 7: 101,641,927 (GRCm39) probably null Het
Odc1 T A 12: 17,598,842 (GRCm39) S241T probably damaging Het
Or11g2 A T 14: 50,856,231 (GRCm39) D184V probably damaging Het
Or14j7 A T 17: 38,234,516 (GRCm39) N20Y possibly damaging Het
Pcnx3 T C 19: 5,722,615 (GRCm39) D951G probably damaging Het
Pigg T C 5: 108,484,408 (GRCm39) F685L probably benign Het
Pnpla7 T A 2: 24,943,796 (GRCm39) probably benign Het
Pramel16 C T 4: 143,677,298 (GRCm39) V94M probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rp1l1 A T 14: 64,269,039 (GRCm39) T1542S probably benign Het
Sct A T 7: 140,858,761 (GRCm39) L57Q probably damaging Het
Serpinb3b T C 1: 107,082,317 (GRCm39) S316G possibly damaging Het
Shprh T C 10: 11,062,613 (GRCm39) L1240S probably damaging Het
Slc4a1 C T 11: 102,241,133 (GRCm39) E924K probably damaging Het
Sp7 A T 15: 102,267,453 (GRCm39) Y118N possibly damaging Het
Srebf2 A G 15: 82,087,936 (GRCm39) T219A probably damaging Het
Tenm3 G T 8: 48,763,796 (GRCm39) P753T probably damaging Het
Tonsl A T 15: 76,523,053 (GRCm39) probably null Het
Trio A T 15: 27,742,466 (GRCm39) S2675T possibly damaging Het
Tspan12 T C 6: 21,795,693 (GRCm39) T166A probably damaging Het
Ttll4 A G 1: 74,736,641 (GRCm39) D1122G probably benign Het
Vmn1r77 G A 7: 11,775,550 (GRCm39) A41T probably damaging Het
Xpo7 A T 14: 70,933,064 (GRCm39) F276Y probably benign Het
Zdhhc1 A T 8: 106,205,378 (GRCm39) probably null Het
Zfp319 C A 8: 96,055,417 (GRCm39) C262F probably damaging Het
Zfp442 C T 2: 150,250,582 (GRCm39) C383Y probably damaging Het
Zfp57 G T 17: 37,320,650 (GRCm39) R168L possibly damaging Het
Other mutations in AI182371
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTAACTGGGCAGGACTTTCTC -3'
(R):5'- TACACAATACCTGCTGCTGCC -3'

Sequencing Primer
(F):5'- CATTCAGATGTGTGTCTCAGAGGAAC -3'
(R):5'- CCTGTGTTCCTGGGCTTGAAATG -3'
Posted On 2014-06-30