Incidental Mutation 'R6869:Fam91a1'
ID 536110
Institutional Source Beutler Lab
Gene Symbol Fam91a1
Ensembl Gene ENSMUSG00000037119
Gene Name family with sequence similarity 91, member A1
Synonyms D15Ertd621e
MMRRC Submission 044966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6869 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 58287317-58329589 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58303117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 342 (V342E)
Ref Sequence ENSEMBL: ENSMUSP00000036524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037270]
AlphaFold Q3UVG3
Predicted Effect probably benign
Transcript: ENSMUST00000037270
AA Change: V342E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: V342E

DomainStartEndE-ValueType
Pfam:FAM91_N 8 312 2.8e-149 PFAM
Pfam:FAM91_C 374 821 3.8e-182 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (61/63)
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,507,042 (GRCm39) probably null Het
Ankdd1b A T 13: 96,580,799 (GRCm39) N166K possibly damaging Het
Arhgap30 G T 1: 171,236,623 (GRCm39) R999L probably damaging Het
Bnc2 T A 4: 84,211,733 (GRCm39) D212V probably damaging Het
Bpifb5 T C 2: 154,075,143 (GRCm39) I357T probably benign Het
Catsperb T C 12: 101,446,996 (GRCm39) F208S probably benign Het
Cc2d2b T A 19: 40,797,898 (GRCm39) H1105Q probably benign Het
Chchd6 T C 6: 89,572,478 (GRCm39) D17G probably damaging Het
Chd6 T C 2: 160,807,650 (GRCm39) S1855G probably benign Het
Cpe A G 8: 65,072,461 (GRCm39) V143A probably benign Het
Cyfip1 T A 7: 55,557,113 (GRCm39) V770D possibly damaging Het
Cyp1a1 A T 9: 57,610,067 (GRCm39) M494L probably benign Het
Dcstamp T C 15: 39,617,854 (GRCm39) S88P probably damaging Het
Dnah2 T A 11: 69,320,297 (GRCm39) N3924I probably damaging Het
F830045P16Rik T C 2: 129,316,481 (GRCm39) E76G probably damaging Het
Fastkd1 G A 2: 69,533,104 (GRCm39) A421V probably benign Het
Fgf20 T C 8: 40,734,189 (GRCm39) Y64C probably damaging Het
Gen1 A T 12: 11,291,442 (GRCm39) N847K probably benign Het
Gm4922 A T 10: 18,660,263 (GRCm39) I153K probably damaging Het
Gm6619 T C 6: 131,463,401 (GRCm39) I6T unknown Het
H2-Ab1 T C 17: 34,486,537 (GRCm39) Y199H probably damaging Het
Hdac7 C A 15: 97,694,057 (GRCm39) L737F probably damaging Het
Hells A G 19: 38,929,079 (GRCm39) N121D probably benign Het
Itga2 G A 13: 115,012,073 (GRCm39) probably null Het
Itgb1 A G 8: 129,446,516 (GRCm39) D391G probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lbx1 T A 19: 45,223,390 (GRCm39) S93C probably damaging Het
Lmod2 T C 6: 24,604,126 (GRCm39) M367T probably benign Het
Lrrc43 G A 5: 123,642,339 (GRCm39) probably null Het
Man2a2 C T 7: 80,012,693 (GRCm39) G574D probably benign Het
Mier2 T G 10: 79,378,503 (GRCm39) K343T probably damaging Het
Msh5 A T 17: 35,260,810 (GRCm39) probably null Het
Mtus1 T C 8: 41,535,691 (GRCm39) Q675R possibly damaging Het
Ncan A T 8: 70,560,557 (GRCm39) H803Q probably benign Het
Nckap5l A G 15: 99,324,334 (GRCm39) V723A probably damaging Het
Nectin3 G A 16: 46,215,506 (GRCm39) R79C probably damaging Het
Nlrc5 A G 8: 95,248,583 (GRCm39) E1735G probably benign Het
Nrros A G 16: 31,963,249 (GRCm39) L220S probably damaging Het
Or52r1c G A 7: 102,735,075 (GRCm39) V112M possibly damaging Het
Or5aq1b T A 2: 86,902,017 (GRCm39) I154F probably benign Het
Oxa1l C T 14: 54,604,195 (GRCm39) P152S probably damaging Het
Pdcd6ip A G 9: 113,484,174 (GRCm39) Y818H unknown Het
Pik3cb A T 9: 98,942,312 (GRCm39) S682T probably benign Het
Ppp1r3a A C 6: 14,754,825 (GRCm39) S141A probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Ptprk T C 10: 28,349,055 (GRCm39) probably null Het
Ranbp17 T C 11: 33,463,074 (GRCm39) probably benign Het
Rcbtb1 T C 14: 59,455,051 (GRCm39) V95A probably benign Het
Retreg3 G A 11: 101,010,644 (GRCm39) probably benign Het
Rhobtb1 T C 10: 69,106,056 (GRCm39) L207P probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,007,860 (GRCm39) Y75C probably damaging Het
Strip1 T C 3: 107,520,761 (GRCm39) D763G probably damaging Het
Stxbp5l A T 16: 37,024,810 (GRCm39) V596E possibly damaging Het
Tas2r138 A G 6: 40,589,355 (GRCm39) I297T probably damaging Het
Topors A C 4: 40,261,201 (GRCm39) N694K unknown Het
Tymp T C 15: 89,260,894 (GRCm39) R20G probably benign Het
Ubr4 A G 4: 139,194,538 (GRCm39) T1144A possibly damaging Het
Unc79 A T 12: 103,079,331 (GRCm39) Q1636L probably benign Het
Vmn1r78 A G 7: 11,886,676 (GRCm39) M96V probably benign Het
Wfdc8 C T 2: 164,441,012 (GRCm39) D244N possibly damaging Het
Zbtb49 G T 5: 38,371,694 (GRCm39) N62K probably damaging Het
Zfp579 G T 7: 4,997,460 (GRCm39) D150E probably benign Het
Other mutations in Fam91a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Fam91a1 APN 15 58,302,584 (GRCm39) missense probably damaging 0.99
IGL00590:Fam91a1 APN 15 58,287,565 (GRCm39) missense possibly damaging 0.66
IGL01301:Fam91a1 APN 15 58,314,720 (GRCm39) missense probably damaging 0.99
IGL01372:Fam91a1 APN 15 58,301,911 (GRCm39) missense probably damaging 1.00
IGL01979:Fam91a1 APN 15 58,304,433 (GRCm39) missense probably damaging 1.00
IGL02085:Fam91a1 APN 15 58,313,505 (GRCm39) missense possibly damaging 0.95
IGL02553:Fam91a1 APN 15 58,304,831 (GRCm39) critical splice donor site probably null
IGL02605:Fam91a1 APN 15 58,303,045 (GRCm39) splice site probably benign
IGL02882:Fam91a1 APN 15 58,324,910 (GRCm39) splice site probably benign
IGL02894:Fam91a1 APN 15 58,315,080 (GRCm39) missense probably benign 0.09
ANU18:Fam91a1 UTSW 15 58,314,720 (GRCm39) missense probably damaging 0.99
H8562:Fam91a1 UTSW 15 58,298,970 (GRCm39) splice site probably null
R0395:Fam91a1 UTSW 15 58,326,641 (GRCm39) missense probably benign
R1165:Fam91a1 UTSW 15 58,302,518 (GRCm39) missense possibly damaging 0.90
R1699:Fam91a1 UTSW 15 58,304,797 (GRCm39) missense probably benign 0.04
R1749:Fam91a1 UTSW 15 58,298,443 (GRCm39) missense probably benign 0.02
R1997:Fam91a1 UTSW 15 58,296,044 (GRCm39) critical splice acceptor site probably null
R2042:Fam91a1 UTSW 15 58,298,443 (GRCm39) missense probably benign 0.02
R2188:Fam91a1 UTSW 15 58,302,512 (GRCm39) missense probably damaging 0.98
R2518:Fam91a1 UTSW 15 58,322,449 (GRCm39) missense possibly damaging 0.92
R3124:Fam91a1 UTSW 15 58,293,738 (GRCm39) missense probably benign 0.34
R3916:Fam91a1 UTSW 15 58,302,583 (GRCm39) missense probably damaging 1.00
R4810:Fam91a1 UTSW 15 58,306,589 (GRCm39) missense probably damaging 1.00
R4959:Fam91a1 UTSW 15 58,303,059 (GRCm39) missense probably benign 0.16
R4973:Fam91a1 UTSW 15 58,303,059 (GRCm39) missense probably benign 0.16
R5288:Fam91a1 UTSW 15 58,320,243 (GRCm39) missense probably benign
R5385:Fam91a1 UTSW 15 58,320,243 (GRCm39) missense probably benign
R5386:Fam91a1 UTSW 15 58,320,243 (GRCm39) missense probably benign
R5941:Fam91a1 UTSW 15 58,303,166 (GRCm39) missense probably benign 0.01
R6415:Fam91a1 UTSW 15 58,314,766 (GRCm39) missense probably damaging 1.00
R7175:Fam91a1 UTSW 15 58,302,527 (GRCm39) missense probably benign 0.06
R7872:Fam91a1 UTSW 15 58,320,209 (GRCm39) missense probably benign 0.01
X0024:Fam91a1 UTSW 15 58,302,038 (GRCm39) missense probably damaging 0.98
Z1177:Fam91a1 UTSW 15 58,304,397 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- CAGAGCAGATTGAGAACTCGTC -3'
(R):5'- TGGTAAGGACTCAGACTGCAC -3'

Sequencing Primer
(F):5'- AGAACTCGTCTCAGTCTCAGATGTG -3'
(R):5'- TCAGACTGCACACCACATAGG -3'
Posted On 2018-10-18