Incidental Mutation 'R0590:AI661453'
ID 55945
Institutional Source Beutler Lab
Gene Symbol AI661453
Ensembl Gene ENSMUSG00000034382
Gene Name expressed sequence AI661453
Synonyms
MMRRC Submission 038780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0590 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 47747564-47781563 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 47777999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037701] [ENSMUST00000150819]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037701
SMART Domains Protein: ENSMUSP00000045345
Gene: ENSMUSG00000034382

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 180 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000150819
AA Change: E575G
SMART Domains Protein: ENSMUSP00000120133
Gene: ENSMUSG00000034382
AA Change: E575G

DomainStartEndE-ValueType
low complexity region 140 151 N/A INTRINSIC
low complexity region 157 237 N/A INTRINSIC
low complexity region 294 312 N/A INTRINSIC
low complexity region 314 325 N/A INTRINSIC
low complexity region 354 364 N/A INTRINSIC
low complexity region 384 423 N/A INTRINSIC
low complexity region 429 444 N/A INTRINSIC
low complexity region 522 535 N/A INTRINSIC
low complexity region 612 627 N/A INTRINSIC
internal_repeat_1 628 654 6.24e-9 PROSPERO
low complexity region 656 671 N/A INTRINSIC
internal_repeat_1 688 714 6.24e-9 PROSPERO
low complexity region 853 863 N/A INTRINSIC
low complexity region 976 1016 N/A INTRINSIC
low complexity region 1147 1154 N/A INTRINSIC
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 C T 4: 49,383,273 (GRCm39) M93I probably benign Het
Adamts16 T C 13: 70,949,073 (GRCm39) D196G probably benign Het
Adhfe1 T A 1: 9,618,378 (GRCm39) probably null Het
Apc G T 18: 34,449,283 (GRCm39) E2026* probably null Het
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Cad T C 5: 31,219,575 (GRCm39) S688P probably damaging Het
Ccdc191 C T 16: 43,751,704 (GRCm39) R345* probably null Het
Dcaf13 T A 15: 39,008,480 (GRCm39) probably benign Het
Drc1 A G 5: 30,520,480 (GRCm39) D607G probably benign Het
Fhip1a T C 3: 85,579,683 (GRCm39) R841G probably benign Het
Gli1 G T 10: 127,167,432 (GRCm39) A607E possibly damaging Het
Gls G A 1: 52,251,534 (GRCm39) probably benign Het
Gria1 A T 11: 57,180,235 (GRCm39) Q728H probably damaging Het
Hcrtr1 A G 4: 130,029,487 (GRCm39) L198P probably damaging Het
Ifngr1 T A 10: 19,479,690 (GRCm39) probably benign Het
Ipo5 T C 14: 121,181,769 (GRCm39) V954A possibly damaging Het
Kcnh5 G T 12: 75,012,035 (GRCm39) A628D probably damaging Het
Kif14 T C 1: 136,410,210 (GRCm39) S646P probably damaging Het
Ksr1 A G 11: 78,935,966 (GRCm39) S133P probably damaging Het
Neb T C 2: 52,027,302 (GRCm39) M7143V probably damaging Het
Nelfa G A 5: 34,059,169 (GRCm39) P229S probably damaging Het
Nfatc2 T C 2: 168,413,119 (GRCm39) T169A probably damaging Het
Nr1h4 A G 10: 89,292,429 (GRCm39) Y398H probably damaging Het
Nrcam A G 12: 44,610,815 (GRCm39) E511G probably damaging Het
Ocstamp T A 2: 165,239,671 (GRCm39) R172W probably damaging Het
Or10ag60 A G 2: 87,438,338 (GRCm39) E202G probably damaging Het
Or8d1 T A 9: 38,766,766 (GRCm39) M136K probably damaging Het
Or8g19 T C 9: 39,056,017 (GRCm39) V207A probably benign Het
Phf14 G A 6: 11,961,577 (GRCm39) V405I possibly damaging Het
Plk5 G A 10: 80,196,057 (GRCm39) R238H probably damaging Het
Pole A G 5: 110,465,792 (GRCm39) E1240G probably benign Het
Prdm15 A G 16: 97,598,961 (GRCm39) I899T possibly damaging Het
Psip1 T C 4: 83,376,381 (GRCm39) N486S probably benign Het
Rlf A G 4: 121,028,030 (GRCm39) probably benign Het
Rttn T C 18: 88,997,759 (GRCm39) S255P probably damaging Het
Rusf1 A G 7: 127,896,642 (GRCm39) L134P probably damaging Het
Sema6c A G 3: 95,079,934 (GRCm39) K711E probably damaging Het
Slc4a10 A T 2: 62,021,237 (GRCm39) probably benign Het
Trim36 T G 18: 46,305,643 (GRCm39) S435R probably benign Het
Ucp1 A G 8: 84,018,232 (GRCm39) probably benign Het
Vmn1r17 T C 6: 57,337,999 (GRCm39) Y122C probably benign Het
Vmn1r23 A G 6: 57,903,349 (GRCm39) V143A probably benign Het
Wdfy4 T A 14: 32,763,131 (GRCm39) Q2166L probably benign Het
Zc3h7b C T 15: 81,661,199 (GRCm39) T346M possibly damaging Het
Zfhx4 T A 3: 5,467,693 (GRCm39) V2617D probably damaging Het
Other mutations in AI661453
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:AI661453 APN 17 47,777,548 (GRCm39) intron probably benign
IGL01995:AI661453 APN 17 47,779,442 (GRCm39) intron probably benign
IGL02171:AI661453 APN 17 47,777,921 (GRCm39) intron probably benign
IGL02411:AI661453 APN 17 47,778,263 (GRCm39) intron probably benign
IGL02422:AI661453 APN 17 47,778,017 (GRCm39) intron probably benign
IGL02609:AI661453 APN 17 47,779,297 (GRCm39) intron probably benign
IGL02888:AI661453 APN 17 47,778,329 (GRCm39) intron probably benign
IGL03024:AI661453 APN 17 47,757,513 (GRCm39) missense probably damaging 1.00
R0077:AI661453 UTSW 17 47,780,287 (GRCm39) intron probably benign
R0092:AI661453 UTSW 17 47,778,440 (GRCm39) intron probably benign
R0144:AI661453 UTSW 17 47,780,224 (GRCm39) intron probably benign
R0330:AI661453 UTSW 17 47,757,571 (GRCm39) missense probably damaging 1.00
R0839:AI661453 UTSW 17 47,747,752 (GRCm39) missense probably null 0.97
R1350:AI661453 UTSW 17 47,778,853 (GRCm39) nonsense probably null
R1436:AI661453 UTSW 17 47,777,627 (GRCm39) intron probably benign
R1439:AI661453 UTSW 17 47,777,587 (GRCm39) intron probably benign
R1643:AI661453 UTSW 17 47,778,791 (GRCm39) intron probably benign
R1994:AI661453 UTSW 17 47,777,959 (GRCm39) intron probably benign
R2145:AI661453 UTSW 17 47,777,023 (GRCm39) intron probably benign
R2986:AI661453 UTSW 17 47,777,697 (GRCm39) nonsense probably null
R4398:AI661453 UTSW 17 47,779,042 (GRCm39) intron probably benign
R4809:AI661453 UTSW 17 47,778,112 (GRCm39) intron probably benign
R4913:AI661453 UTSW 17 47,779,480 (GRCm39) nonsense probably null
R4972:AI661453 UTSW 17 47,777,324 (GRCm39) intron probably benign
R6430:AI661453 UTSW 17 47,777,722 (GRCm39) intron probably benign
R6687:AI661453 UTSW 17 47,777,927 (GRCm39) intron probably benign
R7494:AI661453 UTSW 17 47,779,105 (GRCm39) missense unknown
R7598:AI661453 UTSW 17 47,777,045 (GRCm39) missense unknown
R7635:AI661453 UTSW 17 47,778,676 (GRCm39) missense unknown
R7753:AI661453 UTSW 17 47,778,439 (GRCm39) nonsense probably null
R7920:AI661453 UTSW 17 47,779,331 (GRCm39) missense unknown
R7974:AI661453 UTSW 17 47,777,006 (GRCm39) missense unknown
R8022:AI661453 UTSW 17 47,777,161 (GRCm39) missense unknown
R8489:AI661453 UTSW 17 47,777,254 (GRCm39) intron probably benign
R8771:AI661453 UTSW 17 47,777,683 (GRCm39) missense unknown
R9316:AI661453 UTSW 17 47,747,832 (GRCm39) missense probably benign 0.05
R9596:AI661453 UTSW 17 47,780,411 (GRCm39) missense unknown
R9743:AI661453 UTSW 17 47,780,240 (GRCm39) missense unknown
R9766:AI661453 UTSW 17 47,757,570 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTATTCCTGAGAAGAGCCCCTCC -3'
(R):5'- GAGTGGTAAAGTTAGCCCAGGTGTG -3'

Sequencing Primer
(F):5'- GAAGAGCCCCTCCAGCAG -3'
(R):5'- CTTAGGTAGTATGGCCTGCCC -3'
Posted On 2013-07-11