Incidental Mutation 'R5022:AW551984'
ID 389259
Institutional Source Beutler Lab
Gene Symbol AW551984
Ensembl Gene ENSMUSG00000038112
Gene Name expressed sequence AW551984
Synonyms
MMRRC Submission 042613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5022 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 39498692-39515699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39509261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 293 (N293K)
Ref Sequence ENSEMBL: ENSMUSP00000113212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]
AlphaFold Q8BGF0
Predicted Effect probably benign
Transcript: ENSMUST00000042485
AA Change: N293K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: N293K

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119722
AA Change: N293K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: N293K

DomainStartEndE-ValueType
VIT 1 131 1.59e-47 SMART
VWA 279 460 1.04e-6 SMART
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 99% (110/111)
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 TCGACTGC T 4: 53,041,570 (GRCm39) probably null Het
Abca15 T C 7: 119,945,319 (GRCm39) I465T probably damaging Het
Abca3 C T 17: 24,593,274 (GRCm39) R224C probably damaging Het
Abcb4 T A 5: 8,959,054 (GRCm39) probably null Het
Acan T C 7: 78,742,556 (GRCm39) probably null Het
Aebp2 G A 6: 140,583,456 (GRCm39) R109Q possibly damaging Het
Agfg2 A T 5: 137,658,422 (GRCm39) probably null Het
Ankib1 T A 5: 3,784,011 (GRCm39) I322F possibly damaging Het
BC028528 T A 3: 95,796,135 (GRCm39) probably benign Het
Bicc1 A G 10: 70,783,713 (GRCm39) S393P possibly damaging Het
Birc6 A G 17: 74,999,327 (GRCm39) Y4656C probably damaging Het
Bmp3 A G 5: 99,020,683 (GRCm39) R369G probably damaging Het
C1d T A 11: 17,216,674 (GRCm39) N135K probably benign Het
Ccdc148 G A 2: 58,717,644 (GRCm39) A453V probably damaging Het
Cd163 C T 6: 124,302,247 (GRCm39) T937I probably damaging Het
Celf2 C T 2: 6,612,658 (GRCm39) probably benign Het
Chga T C 12: 102,529,096 (GRCm39) W358R probably damaging Het
Clec4b2 A T 6: 123,177,915 (GRCm39) S77C probably null Het
Crim1 T C 17: 78,587,558 (GRCm39) V221A possibly damaging Het
D630003M21Rik A T 2: 158,059,553 (GRCm39) S116T probably damaging Het
Dlg5 T C 14: 24,186,690 (GRCm39) E1847G probably damaging Het
Dmxl1 T A 18: 50,028,194 (GRCm39) I2206K probably damaging Het
Dusp7 T A 9: 106,250,940 (GRCm39) L355Q probably damaging Het
Eif1ad15 T C 12: 88,288,071 (GRCm39) I61V probably benign Het
Eif1ad16 A T 12: 87,985,481 (GRCm39) S21T unknown Het
Exd2 T A 12: 80,543,564 (GRCm39) N582K probably damaging Het
Fbln1 G A 15: 85,121,827 (GRCm39) S316N probably damaging Het
Fchsd1 A G 18: 38,097,863 (GRCm39) I340T possibly damaging Het
Fn1 T C 1: 71,663,338 (GRCm39) Y1050C probably damaging Het
Fsip2 A G 2: 82,809,773 (GRCm39) I2031V probably benign Het
Gm10803 A C 2: 93,394,517 (GRCm39) L96F probably damaging Het
Gm14569 T C X: 35,694,470 (GRCm39) D1413G probably benign Het
Gm15455 T C 1: 33,876,432 (GRCm39) noncoding transcript Het
Gm1818 G C 12: 48,602,318 (GRCm39) noncoding transcript Het
Gm5420 A T 10: 21,567,626 (GRCm39) noncoding transcript Het
Gm7104 A T 12: 88,252,529 (GRCm39) noncoding transcript Het
Gp2 A G 7: 119,048,337 (GRCm39) I427T probably damaging Het
Gpc4 G A X: 51,163,440 (GRCm39) R148C probably damaging Het
Gpr142 A C 11: 114,695,214 (GRCm39) S60R probably benign Het
Helz2 T C 2: 180,882,362 (GRCm39) R144G probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Hnf4g G T 3: 3,709,647 (GRCm39) A144S probably damaging Het
Irs2 A C 8: 11,037,012 (GRCm39) *1322G probably null Het
Keg1 A G 19: 12,696,521 (GRCm39) N288S probably damaging Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Klhl1 G A 14: 96,374,142 (GRCm39) P635S probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lsm11 T C 11: 45,835,666 (GRCm39) D25G probably damaging Het
Manea A T 4: 26,336,630 (GRCm39) Y215* probably null Het
Mdga2 C T 12: 66,517,534 (GRCm39) C100Y possibly damaging Het
Mthfd1 T G 12: 76,341,148 (GRCm39) V480G probably damaging Het
Mthfd1 T A 12: 76,348,102 (GRCm39) M582K probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nanos1 T C 19: 60,745,418 (GRCm39) Y239H probably damaging Het
Nat8 G A 6: 85,807,839 (GRCm39) T98I possibly damaging Het
Ndufs3 C A 2: 90,729,004 (GRCm39) A161S probably benign Het
Nexmif A T X: 103,130,956 (GRCm39) N320K probably damaging Het
Or10h1 T C 17: 33,418,751 (GRCm39) F239S probably damaging Het
Or2m12 A T 16: 19,104,809 (GRCm39) V228D probably damaging Het
Or2r3 A T 6: 42,448,221 (GRCm39) V297E possibly damaging Het
Or4c111 A G 2: 88,844,387 (GRCm39) V7A probably damaging Het
Or4c122 C T 2: 89,079,761 (GRCm39) M92I probably benign Het
Or4k15 T C 14: 50,364,469 (GRCm39) V145A possibly damaging Het
Or52e2 G A 7: 102,804,942 (GRCm39) P4L probably benign Het
Or6c69c T C 10: 129,910,462 (GRCm39) L61P probably damaging Het
Pcdhb14 T A 18: 37,583,223 (GRCm39) N776K probably benign Het
Pip5k1c G A 10: 81,146,723 (GRCm39) probably null Het
Plk4 G A 3: 40,756,512 (GRCm39) probably null Het
Prmt8 A G 6: 127,688,126 (GRCm39) Y231H possibly damaging Het
Prpf4b T C 13: 35,067,582 (GRCm39) probably benign Het
Ptpn21 G A 12: 98,645,666 (GRCm39) R1091C probably damaging Het
Pwwp2b C T 7: 138,835,494 (GRCm39) P312S possibly damaging Het
Rad21 A T 15: 51,830,102 (GRCm39) I503K probably benign Het
Rai14 A G 15: 10,574,592 (GRCm39) S789P probably damaging Het
Rbm26 C T 14: 105,381,688 (GRCm39) D486N probably damaging Het
Rnf20 A G 4: 49,642,016 (GRCm39) probably benign Het
Ros1 A G 10: 52,000,171 (GRCm39) V1118A possibly damaging Het
Sema3d A C 5: 12,634,923 (GRCm39) Y663S probably damaging Het
Serpina6 A G 12: 103,617,971 (GRCm39) W281R probably damaging Het
Slc8a3 A G 12: 81,246,332 (GRCm39) V900A probably damaging Het
Spats2l G T 1: 57,918,715 (GRCm39) V30L probably damaging Het
Spg21 A G 9: 65,383,231 (GRCm39) D139G probably damaging Het
Sun3 T C 11: 8,988,314 (GRCm39) T3A probably damaging Het
Tep1 A G 14: 51,066,456 (GRCm39) Y2335H probably benign Het
Tesl1 G A X: 23,773,480 (GRCm39) G327E probably damaging Het
Timd5 T A 11: 46,419,359 (GRCm39) D58E probably damaging Het
Timm21 C A 18: 84,967,539 (GRCm39) V112L possibly damaging Het
Tlk1 A T 2: 70,572,409 (GRCm39) N386K probably benign Het
Trappc10 G T 10: 78,052,994 (GRCm39) F260L possibly damaging Het
Trgv1 T A 13: 19,524,401 (GRCm39) S42T probably benign Het
Trmt112 T C 19: 6,888,121 (GRCm39) V91A probably benign Het
Ucp2 A T 7: 100,147,579 (GRCm39) N186I possibly damaging Het
Vmn1r119 A G 7: 20,746,245 (GRCm39) S46P probably benign Het
Vmn2r101 A T 17: 19,831,649 (GRCm39) probably null Het
Vmn2r105 T A 17: 20,428,676 (GRCm39) H800L probably damaging Het
Vmn2r69 T C 7: 85,060,367 (GRCm39) M406V possibly damaging Het
Vmn2r84 A G 10: 130,222,417 (GRCm39) L601P probably damaging Het
Vps16 A G 2: 130,281,372 (GRCm39) S235G probably benign Het
Wap T C 11: 6,587,339 (GRCm39) probably benign Het
Wdr11 A G 7: 129,226,435 (GRCm39) I744M probably benign Het
Xiap T C X: 41,183,342 (GRCm39) F23L probably benign Het
Xkr7 A G 2: 152,896,300 (GRCm39) T385A probably benign Het
Zfp524 A T 7: 5,021,416 (GRCm39) I315F probably benign Het
Zfp62 T A 11: 49,106,556 (GRCm39) S216T probably damaging Het
Znfx1 T C 2: 166,881,746 (GRCm39) Y217C 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
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'- CACAACTGGTACAAGTGTGGAG -3'
(R):5'- TGGCCATGGACTCATTCTGC -3'

Sequencing Primer
(F):5'- ACAAGTGTGGAGGATGTGGTC -3'
(R):5'- GCCTCCCAGAGTACTTTTAACTTGTG -3'
Posted On 2016-06-06