Incidental Mutation 'R2173:Fam149a'
ID 237623
Institutional Source Beutler Lab
Gene Symbol Fam149a
Ensembl Gene ENSMUSG00000070044
Gene Name family with sequence similarity 149, member A
Synonyms
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 45789754-45835328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45806991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 288 (D288G)
Ref Sequence ENSEMBL: ENSMUSP00000091245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093526] [ENSMUST00000155230]
AlphaFold Q8CFV2
Predicted Effect probably damaging
Transcript: ENSMUST00000093526
AA Change: D288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: D288G

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: D241G
SMART Domains Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: D241G

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: D207G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: D207G

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
Meta Mutation Damage Score 0.4255 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Nup153 A T 13: 46,855,076 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCAGTTACAGTGTGTTGGCAG -3'
(R):5'- ACGGAGCCCACCATTTTATCTTG -3'

Sequencing Primer
(F):5'- ATCGGTTGTGCGTACATCAGAAC -3'
(R):5'- GAGCCCACCATTTTATCTTGTTTTAC -3'
Posted On 2014-10-02