Incidental Mutation 'IGL03112:Fam149a'
ID 419231
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 # IGL03112
Quality Score
Status
Chromosome 8
Chromosomal Location 45789754-45835328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45801580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 514 (V514M)
Ref Sequence ENSEMBL: ENSMUSP00000091245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093526] [ENSMUST00000155230]
AlphaFold Q8CFV2
Predicted Effect possibly damaging
Transcript: ENSMUST00000093526
AA Change: V514M

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: V514M

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: V467M
SMART Domains Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: V467M

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 benign
Transcript: ENSMUST00000155230
AA Change: V433M

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: V433M

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
B430306N03Rik C T 17: 48,623,834 (GRCm39) S45L probably benign Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null Het
Other mutations in Fam149a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Fam149a APN 8 45,792,380 (GRCm39) missense probably damaging 1.00
IGL00229:Fam149a APN 8 45,804,823 (GRCm39) missense probably damaging 0.98
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
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 2016-08-02