Incidental Mutation 'R5532:AW551984'
ID 436229
Institutional Source Beutler Lab
Gene Symbol AW551984
Ensembl Gene ENSMUSG00000038112
Gene Name expressed sequence AW551984
Synonyms
MMRRC Submission 043090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5532 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 39498692-39515699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39508481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 345 (Y345C)
Ref Sequence ENSEMBL: ENSMUSP00000113212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]
AlphaFold Q8BGF0
Predicted Effect probably damaging
Transcript: ENSMUST00000042485
AA Change: Y345C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: Y345C

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119722
AA Change: Y345C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: Y345C

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128054
Predicted Effect probably benign
Transcript: ENSMUST00000130829
SMART Domains Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112

DomainStartEndE-ValueType
Pfam:VIT_2 5 52 1.4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136814
Predicted Effect probably benign
Transcript: ENSMUST00000141370
SMART Domains Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,293 (GRCm39) probably null Het
Adsl C G 15: 80,848,110 (GRCm39) P118A probably damaging Het
Ano6 C T 15: 95,860,122 (GRCm39) P748L probably damaging Het
Arhgap10 A T 8: 78,146,701 (GRCm39) N234K probably benign Het
Arhgap18 T A 10: 26,722,104 (GRCm39) I25K possibly damaging Het
Ccdc146 A G 5: 21,510,329 (GRCm39) V561A probably benign Het
Cenpv G A 11: 62,418,398 (GRCm39) T185M probably damaging Het
Fat2 T A 11: 55,153,163 (GRCm39) D3683V probably damaging Het
Galns T C 8: 123,311,765 (GRCm39) D415G possibly damaging Het
Gatad2a G A 8: 70,369,070 (GRCm39) T259M probably damaging Het
Gja8 T C 3: 96,827,648 (GRCm39) S5G probably benign Het
Ifi209 T C 1: 173,466,542 (GRCm39) S125P probably damaging Het
Iigp1c A G 18: 60,379,142 (GRCm39) I226V probably benign Het
Il12rb2 G A 6: 67,269,246 (GRCm39) R856W probably damaging Het
Kcnq3 A T 15: 65,869,622 (GRCm39) Y605* probably null Het
Klk1b16 T C 7: 43,790,950 (GRCm39) S251P probably benign Het
Map2 A G 1: 66,453,779 (GRCm39) N890D probably damaging Het
Map4 T A 9: 109,863,746 (GRCm39) S324T probably benign Het
Mmp28 T C 11: 83,333,684 (GRCm39) D419G probably damaging Het
Mtnr1b A G 9: 15,774,210 (GRCm39) L283P probably benign Het
Ndufb7 T A 8: 84,298,063 (GRCm39) Y95N probably damaging Het
Nfrkb C T 9: 31,309,075 (GRCm39) R280W probably damaging Het
Npc1l1 A G 11: 6,174,245 (GRCm39) Y687H probably damaging Het
Or6f1 A C 7: 85,970,879 (GRCm39) F94V possibly damaging Het
Or8b40 C T 9: 38,027,923 (GRCm39) T277I probably benign Het
Or8g51 T C 9: 38,608,943 (GRCm39) T240A probably damaging Het
Or8h9 T A 2: 86,788,924 (GRCm39) R293* probably null Het
Pabpc4l T C 3: 46,401,044 (GRCm39) D200G probably benign Het
Plekhg6 T C 6: 125,349,514 (GRCm39) E361G possibly damaging Het
Pramel31 A T 4: 144,090,061 (GRCm39) D367V probably damaging Het
Rictor A G 15: 6,819,046 (GRCm39) Y1423C probably damaging Het
Rsf1 G A 7: 97,329,902 (GRCm39) D1143N probably damaging Het
Spsb4 C T 9: 96,877,627 (GRCm39) probably null Het
Strada G T 11: 106,061,843 (GRCm39) A136E probably damaging Het
Syce2 A T 8: 85,610,131 (GRCm39) Q73L probably damaging Het
Teddm2 A T 1: 153,726,130 (GRCm39) V195D probably benign Het
Tex36 A T 7: 133,203,712 (GRCm39) N12K probably benign Het
Ubtf A G 11: 102,199,785 (GRCm39) S484P probably benign Het
Ufd1 T G 16: 18,636,680 (GRCm39) L66R probably damaging Het
Vmn2r74 C T 7: 85,601,197 (GRCm39) A814T probably benign Het
Vmn2r98 T C 17: 19,287,645 (GRCm39) S493P possibly damaging Het
Xrcc1 T A 7: 24,267,353 (GRCm39) probably null Het
Zfp277 A C 12: 40,385,308 (GRCm39) C305G probably damaging Het
Zfp998 A T 13: 66,579,740 (GRCm39) C248S probably 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
IGL02102:AW551984 APN 9 39,500,987 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGAAGCCTGGAGTACATAC -3'
(R):5'- ATTTGGAGCCACCCATGAGG -3'

Sequencing Primer
(F):5'- AGCCTGGAGTACATACAGTGTTTCC -3'
(R):5'- ACCCATGAGGAGTTCTTTCCGTAAG -3'
Posted On 2016-10-24