Incidental Mutation 'R0453:AW551984'
ID 39785
Institutional Source Beutler Lab
Gene Symbol AW551984
Ensembl Gene ENSMUSG00000038112
Gene Name expressed sequence AW551984
Synonyms
MMRRC Submission 038653-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R0453 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 39498692-39515699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39511937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 25 (S25P)
Ref Sequence ENSEMBL: ENSMUSP00000117262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]
AlphaFold Q8BGF0
Predicted Effect probably damaging
Transcript: ENSMUST00000042485
AA Change: S25P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: S25P

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119722
AA Change: S25P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: S25P

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130829
AA Change: S25P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112
AA Change: S25P

DomainStartEndE-ValueType
Pfam:VIT_2 5 52 1.4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136814
Predicted Effect probably damaging
Transcript: ENSMUST00000141370
AA Change: S25P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
AA Change: S25P

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.6%
Validation Efficiency 99% (97/98)
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,765,445 (GRCm39) K843* probably null Het
Adam26b T C 8: 43,973,387 (GRCm39) I538M probably benign Het
Adamtsl1 T C 4: 86,150,852 (GRCm39) Y337H probably damaging Het
Ak7 T C 12: 105,682,307 (GRCm39) M156T probably damaging Het
Aldh3a1 A G 11: 61,106,338 (GRCm39) M238V probably benign Het
Asic4 T A 1: 75,450,155 (GRCm39) probably benign Het
Bbs7 T A 3: 36,661,818 (GRCm39) Y127F possibly damaging Het
Bco1 G A 8: 117,835,516 (GRCm39) E156K possibly damaging Het
Becn1 T C 11: 101,181,275 (GRCm39) D342G probably damaging Het
Birc6 T A 17: 74,956,749 (GRCm39) I3575N probably damaging Het
Brd10 T C 19: 29,731,068 (GRCm39) Y715C probably damaging Het
Cc2d2a A T 5: 43,860,636 (GRCm39) M522L probably benign Het
Cerkl A G 2: 79,172,795 (GRCm39) F293L probably benign Het
Chil3 T G 3: 106,056,221 (GRCm39) N311T probably benign Het
Cpeb2 T A 5: 43,443,056 (GRCm39) probably benign Het
Cpxm2 A G 7: 131,730,134 (GRCm39) S162P probably damaging Het
Cracr2b A C 7: 141,044,176 (GRCm39) E136A probably damaging Het
Cyp2a4 T A 7: 26,012,258 (GRCm39) M347K probably benign Het
Dicer1 C A 12: 104,668,889 (GRCm39) R1264S probably benign Het
Dlgap1 T A 17: 71,068,341 (GRCm39) N609K probably benign Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egfl8 T C 17: 34,833,856 (GRCm39) Y74C probably damaging Het
Esyt1 A G 10: 128,348,078 (GRCm39) S901P probably benign Het
Fam83e A T 7: 45,373,372 (GRCm39) D246V probably damaging Het
Galnt2 T C 8: 125,065,323 (GRCm39) probably benign Het
Hdc A G 2: 126,436,871 (GRCm39) probably benign Het
Herc1 A C 9: 66,307,054 (GRCm39) Q958P probably benign Het
Iqcg T A 16: 32,870,213 (GRCm39) probably benign Het
Iqub A T 6: 24,450,829 (GRCm39) F590Y probably damaging Het
Jak2 T C 19: 29,289,238 (GRCm39) I1130T probably benign Het
Kbtbd11 G A 8: 15,077,499 (GRCm39) A33T probably benign Het
Kcnip4 A G 5: 48,667,054 (GRCm39) L37P probably damaging Het
Klk6 A G 7: 43,477,963 (GRCm39) N112D probably damaging Het
Kmt2c G A 5: 25,559,745 (GRCm39) T1011I probably damaging Het
Knl1 A T 2: 118,898,869 (GRCm39) K190M probably damaging Het
Lama3 T A 18: 12,598,535 (GRCm39) S981T possibly damaging Het
Lrrc18 T C 14: 32,730,608 (GRCm39) L49P probably damaging Het
Lrrc31 T C 3: 30,741,674 (GRCm39) E245G probably damaging Het
Lypd10 T A 7: 24,413,712 (GRCm39) S243T probably benign Het
Macf1 T C 4: 123,338,737 (GRCm39) I2456M probably benign Het
Mcm6 T A 1: 128,261,292 (GRCm39) T771S probably benign Het
Met A C 6: 17,534,197 (GRCm39) Y680S possibly damaging Het
Mixl1 T A 1: 180,524,211 (GRCm39) T123S probably damaging Het
Myh8 A T 11: 67,183,731 (GRCm39) I787F probably benign Het
Myocd A G 11: 65,087,051 (GRCm39) F292S probably damaging Het
Neb T C 2: 52,203,902 (GRCm39) probably null Het
Nfe2l1 A G 11: 96,718,194 (GRCm39) S114P probably damaging Het
Nrxn2 T C 19: 6,541,551 (GRCm39) S986P probably damaging Het
Oprl1 T C 2: 181,360,527 (GRCm39) probably null Het
Or11h6 T C 14: 50,880,461 (GRCm39) V241A possibly damaging Het
Or4a73 A T 2: 89,421,095 (GRCm39) Y121* probably null Het
Or5b101 T G 19: 13,005,295 (GRCm39) T133P probably damaging Het
Or6c8 A G 10: 128,915,640 (GRCm39) F64S probably damaging Het
Or8b53 G A 9: 38,667,425 (GRCm39) G147D probably damaging Het
Or8c9 A T 9: 38,241,467 (GRCm39) T195S probably benign Het
Panx2 T A 15: 88,952,610 (GRCm39) I359N probably damaging Het
Pik3c2b T A 1: 133,005,134 (GRCm39) V545E probably damaging Het
Piwil4 T C 9: 14,638,748 (GRCm39) N259S probably benign Het
Plcxd2 A T 16: 45,800,919 (GRCm39) F102I probably damaging Het
Pld5 A T 1: 175,917,522 (GRCm39) M75K possibly damaging Het
Pmp22 T A 11: 63,041,929 (GRCm39) probably benign Het
Polr2a A G 11: 69,631,845 (GRCm39) S1074P possibly damaging Het
Pop1 T A 15: 34,526,352 (GRCm39) V649E possibly damaging Het
Prc1 A G 7: 79,962,850 (GRCm39) N548S probably damaging Het
Prss51 T C 14: 64,334,588 (GRCm39) L202P probably damaging Het
Rhpn1 T C 15: 75,585,428 (GRCm39) S576P possibly damaging Het
Rictor A G 15: 6,738,123 (GRCm39) D20G probably benign Het
Rpl13a-ps1 A T 19: 50,018,645 (GRCm39) L177* probably null Het
Rpl23a-ps1 T G 1: 46,021,087 (GRCm39) noncoding transcript Het
Saa2 A G 7: 46,402,902 (GRCm39) D51G probably damaging Het
Sec31a A T 5: 100,551,977 (GRCm39) probably benign Het
Secisbp2 G A 13: 51,837,361 (GRCm39) E841K possibly damaging Het
Serinc1 A G 10: 57,393,306 (GRCm39) Y437H probably damaging Het
Slc39a12 A T 2: 14,440,492 (GRCm39) H481L probably benign Het
Suz12 T A 11: 79,920,859 (GRCm39) N586K probably damaging Het
Synm T C 7: 67,386,630 (GRCm39) Y344C possibly damaging Het
Tas2r104 A G 6: 131,662,304 (GRCm39) V135A probably benign Het
Tdrd9 T C 12: 112,034,673 (GRCm39) S1371P probably benign Het
Tg T A 15: 66,700,382 (GRCm39) D893E probably benign Het
Thoc5 C A 11: 4,868,217 (GRCm39) D423E possibly damaging Het
Trim11 G A 11: 58,881,361 (GRCm39) R418H probably damaging Het
Trim52 T G 14: 106,344,399 (GRCm39) V19G probably damaging Het
Tuba4a C A 1: 75,192,502 (GRCm39) V371L probably damaging Het
Ugt8a A G 3: 125,708,606 (GRCm39) V168A probably benign Het
Ulk1 C T 5: 110,938,951 (GRCm39) G496R probably damaging Het
Usp40 A G 1: 87,874,320 (GRCm39) *1236Q probably null Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r24 A G 6: 123,757,350 (GRCm39) probably null Het
Vmn2r53 A G 7: 12,316,338 (GRCm39) Y494H probably damaging Het
Vmn2r65 T A 7: 84,595,442 (GRCm39) D414V probably benign Het
Wdr26 A T 1: 181,010,444 (GRCm39) L519* probably null Het
Wnk1 A G 6: 119,940,112 (GRCm39) V173A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp318 T C 17: 46,707,634 (GRCm39) S231P probably damaging Het
Zfp398 T C 6: 47,842,782 (GRCm39) V146A probably benign Het
Zfp410 T C 12: 84,378,486 (GRCm39) M270T probably damaging Het
Zfp445 A T 9: 122,682,578 (GRCm39) H454Q 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGGATAAACTCATCCCTCAGACC -3'
(R):5'- TGCATCTTTCCACAGAACCGCAG -3'

Sequencing Primer
(F):5'- CAGACCTGGTACTTGTCCTGAAG -3'
(R):5'- AGCTTCAACATGGTGCGTTC -3'
Posted On 2013-05-23