Incidental Mutation 'R5370:Fam169a'
ID 429613
Institutional Source Beutler Lab
Gene Symbol Fam169a
Ensembl Gene ENSMUSG00000041817
Gene Name family with sequence similarity 169, member A
Synonyms B230112C05Rik
MMRRC Submission 042947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R5370 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 97203795-97266801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97243470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 167 (C167S)
Ref Sequence ENSEMBL: ENSMUSP00000126209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000169863]
AlphaFold Q5XG69
Predicted Effect probably damaging
Transcript: ENSMUST00000042517
AA Change: C167S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: C167S

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169863
AA Change: C167S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: C167S

DomainStartEndE-ValueType
low complexity region 374 386 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 630 642 N/A INTRINSIC
low complexity region 650 663 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Armc3 A C 2: 19,290,873 (GRCm39) T451P probably benign Het
Ass1 G A 2: 31,408,745 (GRCm39) V379M possibly damaging Het
Cdhr2 A G 13: 54,868,700 (GRCm39) Y554C probably damaging Het
Clec4g C A 8: 3,768,344 (GRCm39) R129L probably benign Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Dnah9 T A 11: 65,920,180 (GRCm39) T2238S probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Ephb2 T C 4: 136,498,881 (GRCm39) E66G probably benign Het
Ggcx T C 6: 72,402,914 (GRCm39) S291P possibly damaging Het
Gsdme T A 6: 50,206,286 (GRCm39) I186F probably damaging Het
Gzma T A 13: 113,232,329 (GRCm39) M191L probably damaging Het
Heatr1 T A 13: 12,416,403 (GRCm39) S226T probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hs6st1 T A 1: 36,108,162 (GRCm39) S142T probably damaging Het
Ighv3-5 A G 12: 114,226,518 (GRCm39) V36A probably benign Het
Leng8 A G 7: 4,148,433 (GRCm39) D735G possibly damaging Het
Mapk13 T A 17: 28,995,326 (GRCm39) Y182* probably null Het
Mrgprb8 A T 7: 48,038,568 (GRCm39) T80S probably benign Het
Myom2 G A 8: 15,149,343 (GRCm39) A605T probably benign Het
Nxf1 A G 19: 8,749,504 (GRCm39) T134A probably damaging Het
Or2n1d G T 17: 38,646,335 (GRCm39) G96* probably null Het
Padi3 C A 4: 140,537,849 (GRCm39) E24* probably null Het
Pcdhga3 T A 18: 37,808,343 (GRCm39) D265E probably damaging Het
Pros1 A T 16: 62,734,339 (GRCm39) I382L probably benign Het
Ptpn23 A G 9: 110,214,769 (GRCm39) V1544A possibly damaging Het
Rhoh G T 5: 66,049,921 (GRCm39) A64S probably benign Het
Rnf115 A G 3: 96,665,336 (GRCm39) T69A probably benign Het
Taf5 A G 19: 47,064,203 (GRCm39) E382G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn2r104 A T 17: 20,250,450 (GRCm39) I607N probably damaging Het
Vmn2r11 T C 5: 109,195,421 (GRCm39) Y635C probably damaging Het
Vwa5a A G 9: 38,652,512 (GRCm39) D765G probably benign Het
Wnk2 T C 13: 49,256,437 (GRCm39) D228G probably damaging Het
Xirp2 A G 2: 67,342,496 (GRCm39) D1579G possibly damaging Het
Other mutations in Fam169a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Fam169a APN 13 97,259,207 (GRCm39) missense probably benign 0.00
IGL01380:Fam169a APN 13 97,228,459 (GRCm39) missense probably damaging 0.97
IGL01761:Fam169a APN 13 97,228,426 (GRCm39) missense possibly damaging 0.92
IGL02628:Fam169a APN 13 97,247,796 (GRCm39) splice site probably benign
IGL02739:Fam169a APN 13 97,230,563 (GRCm39) splice site probably benign
IGL03171:Fam169a APN 13 97,246,522 (GRCm39) splice site probably benign
IGL03306:Fam169a APN 13 97,243,497 (GRCm39) missense possibly damaging 0.66
IGL03377:Fam169a APN 13 97,228,381 (GRCm39) missense probably benign 0.04
IGL02980:Fam169a UTSW 13 97,250,188 (GRCm39) critical splice donor site probably null
R0282:Fam169a UTSW 13 97,234,223 (GRCm39) splice site probably benign
R1319:Fam169a UTSW 13 97,234,070 (GRCm39) missense probably damaging 1.00
R1468:Fam169a UTSW 13 97,255,038 (GRCm39) missense probably benign 0.01
R1468:Fam169a UTSW 13 97,255,038 (GRCm39) missense probably benign 0.01
R2037:Fam169a UTSW 13 97,243,600 (GRCm39) missense probably benign 0.37
R2380:Fam169a UTSW 13 97,255,043 (GRCm39) splice site probably benign
R3805:Fam169a UTSW 13 97,234,192 (GRCm39) missense probably benign 0.00
R4434:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4435:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4437:Fam169a UTSW 13 97,263,248 (GRCm39) missense probably damaging 1.00
R4590:Fam169a UTSW 13 97,234,093 (GRCm39) missense probably benign 0.02
R4896:Fam169a UTSW 13 97,234,100 (GRCm39) missense probably damaging 1.00
R5004:Fam169a UTSW 13 97,234,100 (GRCm39) missense probably damaging 1.00
R5276:Fam169a UTSW 13 97,255,004 (GRCm39) missense probably benign 0.01
R5687:Fam169a UTSW 13 97,230,126 (GRCm39) missense probably damaging 1.00
R6151:Fam169a UTSW 13 97,230,138 (GRCm39) missense probably damaging 1.00
R7711:Fam169a UTSW 13 97,263,196 (GRCm39) nonsense probably null
R8322:Fam169a UTSW 13 97,259,260 (GRCm39) missense probably benign 0.00
R8493:Fam169a UTSW 13 97,259,367 (GRCm39) missense probably benign 0.00
R8698:Fam169a UTSW 13 97,243,578 (GRCm39) missense probably damaging 1.00
R8794:Fam169a UTSW 13 97,250,628 (GRCm39) missense possibly damaging 0.85
R9231:Fam169a UTSW 13 97,254,967 (GRCm39) missense probably benign 0.08
R9479:Fam169a UTSW 13 97,250,695 (GRCm39) missense possibly damaging 0.94
R9479:Fam169a UTSW 13 97,246,543 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- AGCTACTTGTCCTATATTACTGTTGGC -3'
(R):5'- TCACCTGTGTACATGAGAGAAG -3'

Sequencing Primer
(F):5'- CTGTTGGCAAACATAAAATAACAGC -3'
(R):5'- CCTGTGTACATGAGAGAAGACAGTG -3'
Posted On 2016-09-06