Incidental Mutation 'IGL02102:AW551984'
ID 279804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AW551984
Ensembl Gene ENSMUSG00000038112
Gene Name expressed sequence AW551984
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL02102
Quality Score
Status
Chromosome 9
Chromosomal Location 39498692-39515699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39500987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 763 (W763R)
Ref Sequence ENSEMBL: ENSMUSP00000113212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722]
AlphaFold Q8BGF0
Predicted Effect probably damaging
Transcript: ENSMUST00000042485
AA Change: W763R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: W763R

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119722
AA Change: W763R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: W763R

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147753
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,754,420 (GRCm39) T1338A probably benign Het
Adcy3 G A 12: 4,184,699 (GRCm39) C125Y probably damaging Het
Aoc1 A T 6: 48,882,896 (GRCm39) K257N probably damaging Het
Apob T C 12: 8,039,407 (GRCm39) V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 (GRCm39) V684D probably benign Het
Blm G A 7: 80,119,504 (GRCm39) T1026M probably damaging Het
Cd160 A G 3: 96,712,886 (GRCm39) I126T possibly damaging Het
Cdk14 T C 5: 5,430,083 (GRCm39) K15E probably benign Het
Cnot6l T C 5: 96,239,518 (GRCm39) K261R probably damaging Het
Cyp3a13 T G 5: 137,909,865 (GRCm39) T153P probably benign Het
Ddx24 A G 12: 103,374,743 (GRCm39) probably benign Het
Dido1 G A 2: 180,304,040 (GRCm39) T1288I possibly damaging Het
Dnajc13 A G 9: 104,106,208 (GRCm39) V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 (GRCm39) Y117* probably null Het
Dsg1a A G 18: 20,465,089 (GRCm39) N427D probably benign Het
Gabrq T G X: 71,871,151 (GRCm39) probably null Het
Glce A G 9: 61,977,883 (GRCm39) probably benign Het
Gm10477 T C X: 55,570,761 (GRCm39) L45P probably damaging Het
Htt T A 5: 35,048,825 (GRCm39) probably benign Het
Ift140 A G 17: 25,252,104 (GRCm39) E317G probably benign Het
Jak1 A G 4: 101,016,283 (GRCm39) M827T probably benign Het
Kalrn A G 16: 34,040,592 (GRCm39) V932A probably damaging Het
Mdm2 A C 10: 117,528,622 (GRCm39) S227R possibly damaging Het
Or14a259 T C 7: 86,013,074 (GRCm39) Y157C probably benign Het
Or4c111 A G 2: 88,843,470 (GRCm39) probably benign Het
Or5ak25 A G 2: 85,268,611 (GRCm39) V297A probably damaging Het
Or5g27 G A 2: 85,410,017 (GRCm39) V145I probably damaging Het
Or5w22 T C 2: 87,362,805 (GRCm39) F143L probably benign Het
Pdilt T G 7: 119,086,173 (GRCm39) E514A probably benign Het
Pepd A G 7: 34,645,028 (GRCm39) D153G probably damaging Het
Ptgis A T 2: 167,067,367 (GRCm39) V70E probably damaging Het
Rnf112 T C 11: 61,342,841 (GRCm39) K262E probably benign Het
Setd5 G T 6: 113,127,946 (GRCm39) G1300* probably null Het
Snx15 A G 19: 6,172,104 (GRCm39) L113P possibly damaging Het
Sptbn1 T C 11: 30,087,427 (GRCm39) D1004G probably damaging Het
Ston2 A C 12: 91,606,498 (GRCm39) *896G probably null Het
Suco A G 1: 161,655,274 (GRCm39) S1073P probably damaging Het
Susd1 A C 4: 59,369,636 (GRCm39) D344E possibly damaging Het
Trnt1 G T 6: 106,755,073 (GRCm39) probably null Het
Ttll12 A G 15: 83,466,264 (GRCm39) F399S probably damaging Het
Vmn1r124 C T 7: 20,994,467 (GRCm39) V26I probably benign Het
Vmn1r52 T A 6: 90,156,189 (GRCm39) N164K possibly damaging Het
Vmn1r56 A T 7: 5,199,335 (GRCm39) M94K possibly damaging Het
Vmn1r80 T C 7: 11,927,618 (GRCm39) F243L probably damaging Het
Zdhhc8 G A 16: 18,043,063 (GRCm39) S379F possibly damaging Het
Other mutations in AW551984
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:AW551984 APN 9 39,504,145 (GRCm39) missense probably benign 0.16
IGL00869:AW551984 APN 9 39,504,730 (GRCm39) splice site probably benign
IGL01411:AW551984 APN 9 39,505,087 (GRCm39) missense possibly damaging 0.69
IGL01744:AW551984 APN 9 39,502,568 (GRCm39) missense probably benign 0.01
IGL02149:AW551984 APN 9 39,504,220 (GRCm39) missense probably benign 0.06
IGL02151:AW551984 APN 9 39,504,241 (GRCm39) missense probably benign 0.35
IGL02154:AW551984 APN 9 39,500,398 (GRCm39) missense possibly damaging 0.93
IGL02158:AW551984 APN 9 39,510,621 (GRCm39) missense probably null 0.99
IGL02574:AW551984 APN 9 39,500,382 (GRCm39) missense possibly damaging 0.91
IGL02754:AW551984 APN 9 39,504,624 (GRCm39) critical splice donor site probably null
IGL02754:AW551984 APN 9 39,507,922 (GRCm39) nonsense probably null
IGL02838:AW551984 APN 9 39,505,939 (GRCm39) missense probably damaging 1.00
IGL03240:AW551984 APN 9 39,500,418 (GRCm39) missense probably benign 0.00
IGL03328:AW551984 APN 9 39,508,412 (GRCm39) missense probably damaging 1.00
IGL03374:AW551984 APN 9 39,511,062 (GRCm39) missense possibly damaging 0.52
PIT4260001:AW551984 UTSW 9 39,504,275 (GRCm39) missense probably benign 0.08
R0141:AW551984 UTSW 9 39,501,940 (GRCm39) missense probably damaging 1.00
R0269:AW551984 UTSW 9 39,511,246 (GRCm39) missense probably damaging 1.00
R0365:AW551984 UTSW 9 39,510,617 (GRCm39) missense probably benign 0.14
R0453:AW551984 UTSW 9 39,511,937 (GRCm39) missense probably damaging 1.00
R0481:AW551984 UTSW 9 39,511,912 (GRCm39) missense probably null 1.00
R1005:AW551984 UTSW 9 39,505,029 (GRCm39) nonsense probably null
R1585:AW551984 UTSW 9 39,510,632 (GRCm39) nonsense probably null
R2177:AW551984 UTSW 9 39,511,111 (GRCm39) missense probably benign
R3117:AW551984 UTSW 9 39,504,656 (GRCm39) missense probably benign 0.08
R3119:AW551984 UTSW 9 39,504,656 (GRCm39) missense probably benign 0.08
R3162:AW551984 UTSW 9 39,504,325 (GRCm39) missense probably damaging 1.00
R3162:AW551984 UTSW 9 39,504,325 (GRCm39) missense probably damaging 1.00
R3836:AW551984 UTSW 9 39,509,204 (GRCm39) unclassified probably benign
R3837:AW551984 UTSW 9 39,509,204 (GRCm39) unclassified probably benign
R3839:AW551984 UTSW 9 39,509,204 (GRCm39) unclassified probably benign
R4299:AW551984 UTSW 9 39,504,275 (GRCm39) missense probably benign 0.08
R4422:AW551984 UTSW 9 39,511,373 (GRCm39) missense probably null 0.00
R4713:AW551984 UTSW 9 39,508,449 (GRCm39) missense probably benign 0.13
R4905:AW551984 UTSW 9 39,508,454 (GRCm39) missense probably damaging 0.99
R4966:AW551984 UTSW 9 39,508,472 (GRCm39) missense possibly damaging 0.92
R5022:AW551984 UTSW 9 39,509,261 (GRCm39) missense probably benign 0.00
R5041:AW551984 UTSW 9 39,511,894 (GRCm39) missense probably damaging 1.00
R5342:AW551984 UTSW 9 39,505,847 (GRCm39) missense probably damaging 1.00
R5383:AW551984 UTSW 9 39,501,994 (GRCm39) missense probably benign
R5443:AW551984 UTSW 9 39,509,325 (GRCm39) missense possibly damaging 0.94
R5532:AW551984 UTSW 9 39,508,481 (GRCm39) missense probably damaging 1.00
R5536:AW551984 UTSW 9 39,504,169 (GRCm39) missense probably benign 0.04
R5586:AW551984 UTSW 9 39,502,559 (GRCm39) missense probably benign 0.01
R5601:AW551984 UTSW 9 39,502,563 (GRCm39) missense possibly damaging 0.87
R5618:AW551984 UTSW 9 39,502,000 (GRCm39) missense probably damaging 1.00
R5701:AW551984 UTSW 9 39,504,118 (GRCm39) missense probably benign 0.01
R6122:AW551984 UTSW 9 39,505,051 (GRCm39) missense probably benign 0.00
R6142:AW551984 UTSW 9 39,508,410 (GRCm39) missense probably benign 0.00
R6272:AW551984 UTSW 9 39,509,333 (GRCm39) missense probably benign 0.06
R6429:AW551984 UTSW 9 39,511,910 (GRCm39) missense probably damaging 1.00
R6659:AW551984 UTSW 9 39,500,395 (GRCm39) missense probably benign 0.00
R6670:AW551984 UTSW 9 39,504,292 (GRCm39) missense probably damaging 1.00
R6791:AW551984 UTSW 9 39,511,955 (GRCm39) missense probably damaging 1.00
R7000:AW551984 UTSW 9 39,512,085 (GRCm39) missense probably benign 0.11
R7077:AW551984 UTSW 9 39,502,723 (GRCm39) missense probably benign
R7083:AW551984 UTSW 9 39,508,943 (GRCm39) missense probably damaging 1.00
R7352:AW551984 UTSW 9 39,504,221 (GRCm39) missense probably benign
R7475:AW551984 UTSW 9 39,509,236 (GRCm39) missense probably damaging 1.00
R7534:AW551984 UTSW 9 39,502,777 (GRCm39) missense probably benign 0.03
R7542:AW551984 UTSW 9 39,505,927 (GRCm39) missense possibly damaging 0.95
R7708:AW551984 UTSW 9 39,505,051 (GRCm39) missense probably benign 0.00
R7729:AW551984 UTSW 9 39,511,071 (GRCm39) missense possibly damaging 0.89
R7955:AW551984 UTSW 9 39,507,960 (GRCm39) missense probably damaging 1.00
R8122:AW551984 UTSW 9 39,510,665 (GRCm39) missense probably damaging 1.00
R8358:AW551984 UTSW 9 39,510,651 (GRCm39) missense probably damaging 0.99
R8402:AW551984 UTSW 9 39,508,949 (GRCm39) missense probably damaging 1.00
R8683:AW551984 UTSW 9 39,511,005 (GRCm39) missense possibly damaging 0.86
R8810:AW551984 UTSW 9 39,511,307 (GRCm39) missense probably damaging 1.00
R8857:AW551984 UTSW 9 39,511,831 (GRCm39) missense probably damaging 1.00
R8871:AW551984 UTSW 9 39,500,998 (GRCm39) nonsense probably null
R9019:AW551984 UTSW 9 39,508,973 (GRCm39) nonsense probably null
Z1088:AW551984 UTSW 9 39,501,899 (GRCm39) nonsense probably null
ZE80:AW551984 UTSW 9 39,504,963 (GRCm39) splice site probably null
Posted On 2015-04-16