Incidental Mutation 'R1319:Fam169a'
ID 157642
Institutional Source Beutler Lab
Gene Symbol Fam169a
Ensembl Gene ENSMUSG00000041817
Gene Name family with sequence similarity 169, member A
Synonyms B230112C05Rik
MMRRC Submission 039385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R1319 (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 C at 97234070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 114 (V114A)
Ref Sequence ENSEMBL: ENSMUSP00000126209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000071118] [ENSMUST00000169863]
AlphaFold Q5XG69
Predicted Effect probably damaging
Transcript: ENSMUST00000042517
AA Change: V114A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: V114A

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 benign
Transcript: ENSMUST00000071118
SMART Domains Protein: ENSMUSP00000132645
Gene: ENSMUSG00000057762

DomainStartEndE-ValueType
Pfam:MARVEL 19 132 2.2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169863
AA Change: V114A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: V114A

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 T C 14: 68,846,578 (GRCm39) E745G probably benign Het
Adamts12 G T 15: 11,286,877 (GRCm39) K827N probably benign Het
Ang2 T C 14: 51,433,164 (GRCm39) T73A probably benign Het
Bbs10 T C 10: 111,134,735 (GRCm39) L51P probably damaging Het
Bean1 T C 8: 104,943,856 (GRCm39) I137T probably benign Het
Cimip1 A T 2: 173,369,716 (GRCm39) S77C probably damaging Het
Cttnbp2 T C 6: 18,434,629 (GRCm39) T410A probably benign Het
Cyp4a10 A C 4: 115,378,342 (GRCm39) I143L probably damaging Het
Dlg2 A T 7: 92,087,231 (GRCm39) Q788L probably damaging Het
Epha10 G A 4: 124,775,707 (GRCm39) V14I probably benign Het
Eprs1 G A 1: 185,117,159 (GRCm39) D401N probably damaging Het
Fbn2 G A 18: 58,333,682 (GRCm39) P178S possibly damaging Het
Fcrl2 A C 3: 87,169,484 (GRCm39) probably null Het
Grm1 G T 10: 10,565,142 (GRCm39) H1055Q probably benign Het
Mcm6 T C 1: 128,276,789 (GRCm39) N267S probably benign Het
Or5an1c T C 19: 12,218,866 (GRCm39) D53G probably damaging Het
Phc3 T C 3: 30,984,018 (GRCm39) I699V probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pyroxd1 T C 6: 142,304,874 (GRCm39) V367A probably benign Het
R3hdm1 G A 1: 128,159,142 (GRCm39) R939H probably benign Het
Rag1 A T 2: 101,473,537 (GRCm39) I535N probably damaging Het
Rhot1 T C 11: 80,136,847 (GRCm39) C310R probably damaging Het
Tnrc6a G A 7: 122,783,474 (GRCm39) V1481M probably benign Het
Vmn1r234 A T 17: 21,449,172 (GRCm39) M29L probably benign Het
Vmn2r68 A G 7: 84,881,700 (GRCm39) I460T probably damaging Het
Zfhx3 T A 8: 109,660,465 (GRCm39) Y1240N probably 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
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
R5370:Fam169a UTSW 13 97,243,470 (GRCm39) missense probably damaging 1.00
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'- GCACTTGGAGTGTTTTGCATGACAG -3'
(R):5'- AGTGCGAGCATCTCAATTTGCTCTC -3'

Sequencing Primer
(F):5'- TTTGCATGACAGTAGGAGCTGAG -3'
(R):5'- GAGTCAAAATGGAGATTCTGTAACAC -3'
Posted On 2014-02-18