Incidental Mutation 'IGL00229:Fam149a'
ID 2312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam149a
Ensembl Gene ENSMUSG00000070044
Gene Name family with sequence similarity 149, member A
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00229
Quality Score
Status
Chromosome 8
Chromosomal Location 45789754-45835328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45804823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 253 (V253A)
Ref Sequence ENSEMBL: ENSMUSP00000114612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093526] [ENSMUST00000155230]
AlphaFold Q8CFV2
Predicted Effect possibly damaging
Transcript: ENSMUST00000093526
AA Change: V334A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: V334A

DomainStartEndE-ValueType
low complexity region 48 65 N/A INTRINSIC
low complexity region 96 111 N/A INTRINSIC
low complexity region 239 250 N/A INTRINSIC
low complexity region 262 274 N/A INTRINSIC
Pfam:DUF3719 305 370 4.3e-30 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000135912
AA Change: V287A
SMART Domains Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: V287A

DomainStartEndE-ValueType
low complexity region 59 85 N/A INTRINSIC
low complexity region 90 108 N/A INTRINSIC
low complexity region 193 204 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
Pfam:DUF3719 259 324 2.7e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155230
AA Change: V253A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: V253A

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
low complexity region 55 73 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
Pfam:DUF3719 224 291 5.8e-28 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,964,603 (GRCm39) T929A probably damaging Het
Adam6b G A 12: 113,455,013 (GRCm39) R610H probably damaging Het
Adamts12 T A 15: 11,311,685 (GRCm39) M1314K probably benign Het
Alg6 T A 4: 99,641,291 (GRCm39) F152I probably damaging Het
Aopep A G 13: 63,347,314 (GRCm39) probably benign Het
Arid5b A G 10: 67,964,805 (GRCm39) S289P probably damaging Het
Axin1 T C 17: 26,413,046 (GRCm39) F780L probably damaging Het
C9 C T 15: 6,512,712 (GRCm39) S278L possibly damaging Het
Calr4 A T 4: 109,101,312 (GRCm39) I65F probably damaging Het
Cdh23 A G 10: 60,359,327 (GRCm39) V260A probably benign Het
Ddx25 T C 9: 35,454,891 (GRCm39) probably benign Het
Dppa4 A G 16: 48,111,446 (GRCm39) T92A possibly damaging Het
Ercc5 T C 1: 44,203,058 (GRCm39) Y232H probably damaging Het
Exoc4 A G 6: 33,895,334 (GRCm39) probably null Het
Fam209 C T 2: 172,316,102 (GRCm39) T159I probably damaging Het
Gcfc2 A T 6: 81,912,996 (GRCm39) N265I probably damaging Het
Glud1 T C 14: 34,058,087 (GRCm39) V366A probably benign Het
Hdac10 T C 15: 89,012,645 (GRCm39) T3A probably damaging Het
Ifnar1 T C 16: 91,286,670 (GRCm39) S54P probably damaging Het
Itpr2 T C 6: 146,045,683 (GRCm39) Y2561C probably damaging Het
Klhl30 A G 1: 91,281,879 (GRCm39) E160G possibly damaging Het
Kmt2d A T 15: 98,760,214 (GRCm39) S1015T unknown Het
Lactb2 A G 1: 13,730,598 (GRCm39) M26T probably damaging Het
Lactbl1 A T 4: 136,358,362 (GRCm39) D111V probably damaging Het
Lig4 T C 8: 10,022,775 (GRCm39) Y335C probably damaging Het
Lrrc8e T A 8: 4,285,921 (GRCm39) D715E probably benign Het
Med6 A T 12: 81,626,348 (GRCm39) V142D possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mettl13 A G 1: 162,363,434 (GRCm39) V600A possibly damaging Het
Mpdz A T 4: 81,228,461 (GRCm39) C1314* probably null Het
Nbeal2 A G 9: 110,464,937 (GRCm39) V1009A probably damaging Het
Nmur2 A G 11: 55,931,603 (GRCm39) L36P probably damaging Het
Nudt2 T A 4: 41,480,474 (GRCm39) L119Q probably damaging Het
Or5b117 T C 19: 13,431,204 (GRCm39) M226V possibly damaging Het
Osbpl3 C T 6: 50,300,048 (GRCm39) E519K probably damaging Het
Pak6 A T 2: 118,520,326 (GRCm39) T106S possibly damaging Het
Pggt1b T G 18: 46,413,786 (GRCm39) Q34P probably benign Het
Phactr4 T C 4: 132,098,303 (GRCm39) T322A possibly damaging Het
Plekhj1 T C 10: 80,632,436 (GRCm39) probably null Het
Pnpt1 T C 11: 29,104,217 (GRCm39) probably null Het
Pramel32 A G 4: 88,547,290 (GRCm39) I214T probably damaging Het
Prr14l T C 5: 32,988,020 (GRCm39) I492V probably benign Het
Ranbp2 C A 10: 58,313,078 (GRCm39) A1266E probably damaging Het
Riok3 G A 18: 12,270,077 (GRCm39) D140N probably damaging Het
Rsph4a G A 10: 33,790,339 (GRCm39) E643K probably damaging Het
Scara3 T G 14: 66,170,570 (GRCm39) E103A probably benign Het
Sgk3 T C 1: 9,938,609 (GRCm39) V33A probably damaging Het
Slc38a4 A G 15: 96,897,375 (GRCm39) F480S probably damaging Het
Slc44a1 G A 4: 53,543,571 (GRCm39) V372M probably damaging Het
Slc9a2 A G 1: 40,806,897 (GRCm39) Y728C probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Spidr A T 16: 15,713,442 (GRCm39) L847Q probably damaging Het
Sptb A G 12: 76,667,527 (GRCm39) S857P probably benign Het
Syde1 A G 10: 78,421,643 (GRCm39) V636A probably damaging Het
Syna A G 5: 134,588,571 (GRCm39) L126P possibly damaging Het
Taar2 A G 10: 23,817,266 (GRCm39) T269A possibly damaging Het
Tapbp C T 17: 34,144,678 (GRCm39) T258I probably damaging Het
Tcf20 T A 15: 82,741,343 (GRCm39) Q36L possibly damaging Het
Tmem131l A T 3: 83,849,807 (GRCm39) M260K probably damaging Het
Tnc T A 4: 63,935,061 (GRCm39) probably benign Het
Ugp2 T A 11: 21,304,345 (GRCm39) E27D probably benign Het
Vps35l T A 7: 118,403,414 (GRCm39) probably benign Het
Wdr27 A T 17: 15,148,572 (GRCm39) C140* probably null Het
Wnt2b T C 3: 104,860,449 (GRCm39) T153A possibly damaging Het
Xirp2 A T 2: 67,343,719 (GRCm39) T1987S probably benign Het
Zfp36l1 C A 12: 80,157,238 (GRCm39) G48C probably damaging Het
Zfp474 A T 18: 52,771,565 (GRCm39) I73F possibly damaging Het
Zfp790 T A 7: 29,527,988 (GRCm39) F224L probably benign Het
Other mutations in Fam149a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Fam149a APN 8 45,792,380 (GRCm39) missense probably damaging 1.00
IGL01089:Fam149a APN 8 45,801,564 (GRCm39) missense possibly damaging 0.95
IGL01578:Fam149a APN 8 45,803,479 (GRCm39) missense probably damaging 1.00
IGL03095:Fam149a APN 8 45,794,265 (GRCm39) missense probably damaging 1.00
IGL03112:Fam149a APN 8 45,801,580 (GRCm39) missense possibly damaging 0.78
guangxi UTSW 8 45,834,778 (GRCm39) missense probably damaging 1.00
PIT1430001:Fam149a UTSW 8 45,804,743 (GRCm39) missense probably benign 0.00
R0111:Fam149a UTSW 8 45,794,183 (GRCm39) splice site probably benign
R0113:Fam149a UTSW 8 45,794,061 (GRCm39) missense probably damaging 1.00
R0452:Fam149a UTSW 8 45,808,686 (GRCm39) missense probably damaging 1.00
R0604:Fam149a UTSW 8 45,798,045 (GRCm39) missense probably damaging 1.00
R1441:Fam149a UTSW 8 45,808,684 (GRCm39) missense probably damaging 1.00
R1672:Fam149a UTSW 8 45,792,411 (GRCm39) critical splice acceptor site probably null
R1861:Fam149a UTSW 8 45,792,399 (GRCm39) nonsense probably null
R1981:Fam149a UTSW 8 45,834,778 (GRCm39) missense probably damaging 1.00
R2173:Fam149a UTSW 8 45,806,991 (GRCm39) missense probably damaging 1.00
R2211:Fam149a UTSW 8 45,794,046 (GRCm39) missense probably damaging 0.99
R3807:Fam149a UTSW 8 45,834,647 (GRCm39) missense possibly damaging 0.91
R4176:Fam149a UTSW 8 45,794,321 (GRCm39) missense probably benign 0.41
R4913:Fam149a UTSW 8 45,806,920 (GRCm39) missense probably damaging 1.00
R5158:Fam149a UTSW 8 45,803,472 (GRCm39) missense possibly damaging 0.51
R5172:Fam149a UTSW 8 45,797,690 (GRCm39) missense probably damaging 0.99
R5436:Fam149a UTSW 8 45,801,508 (GRCm39) missense probably benign 0.21
R6060:Fam149a UTSW 8 45,811,799 (GRCm39) intron probably benign
R6426:Fam149a UTSW 8 45,834,611 (GRCm39) missense probably benign
R6590:Fam149a UTSW 8 45,802,071 (GRCm39) missense probably damaging 1.00
R6596:Fam149a UTSW 8 45,834,667 (GRCm39) missense probably benign 0.25
R6690:Fam149a UTSW 8 45,802,071 (GRCm39) missense probably damaging 1.00
R6730:Fam149a UTSW 8 45,834,211 (GRCm39) missense probably damaging 1.00
R6734:Fam149a UTSW 8 45,834,478 (GRCm39) missense probably benign
R6916:Fam149a UTSW 8 45,803,443 (GRCm39) missense probably damaging 1.00
R7088:Fam149a UTSW 8 45,803,582 (GRCm39) missense probably benign 0.08
R7219:Fam149a UTSW 8 45,803,600 (GRCm39) missense possibly damaging 0.94
R7352:Fam149a UTSW 8 45,794,034 (GRCm39) missense probably damaging 0.98
R7454:Fam149a UTSW 8 45,801,583 (GRCm39) missense probably benign 0.29
R7591:Fam149a UTSW 8 45,803,472 (GRCm39) missense possibly damaging 0.89
R7788:Fam149a UTSW 8 45,834,554 (GRCm39) missense probably damaging 1.00
R7846:Fam149a UTSW 8 45,811,678 (GRCm39) missense
R7915:Fam149a UTSW 8 45,794,280 (GRCm39) missense probably benign
R8036:Fam149a UTSW 8 45,802,048 (GRCm39) missense probably benign 0.00
R8181:Fam149a UTSW 8 45,834,755 (GRCm39) missense possibly damaging 0.92
R8239:Fam149a UTSW 8 45,803,490 (GRCm39) missense possibly damaging 0.48
R8246:Fam149a UTSW 8 45,834,655 (GRCm39) missense probably benign 0.00
R8532:Fam149a UTSW 8 45,801,991 (GRCm39) missense possibly damaging 0.80
R8856:Fam149a UTSW 8 45,834,611 (GRCm39) missense
R8986:Fam149a UTSW 8 45,811,837 (GRCm39) missense
R9448:Fam149a UTSW 8 45,792,411 (GRCm39) critical splice acceptor site probably null
R9704:Fam149a UTSW 8 45,795,502 (GRCm39) missense probably benign 0.24
R9794:Fam149a UTSW 8 45,834,449 (GRCm39) missense possibly damaging 0.47
Z1176:Fam149a UTSW 8 45,795,495 (GRCm39) missense possibly damaging 0.92
Posted On 2011-12-09