Incidental Mutation 'R9016:Fam171a1'
ID 685974
Institutional Source Beutler Lab
Gene Symbol Fam171a1
Ensembl Gene ENSMUSG00000050530
Gene Name family with sequence similarity 171, member A1
Synonyms 9630050M13Rik
MMRRC Submission 068846-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R9016 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 3115261-3228843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3227434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 856 (A856T)
Ref Sequence ENSEMBL: ENSMUSP00000110751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062934] [ENSMUST00000072955] [ENSMUST00000091505] [ENSMUST00000115099]
AlphaFold A2ATK9
Predicted Effect probably benign
Transcript: ENSMUST00000062934
AA Change: A851T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: A851T

DomainStartEndE-ValueType
Pfam:UPF0560 29 885 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072955
AA Change: A731T

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: A731T

DomainStartEndE-ValueType
Pfam:UPF0560 1 765 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091505
SMART Domains Protein: ENSMUSP00000089086
Gene: ENSMUSG00000050530

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:UPF0560 34 294 3.1e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115099
AA Change: A856T

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: A856T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:UPF0560 34 890 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 C A 18: 74,932,154 (GRCm39) S264R probably damaging Het
Agap1 T C 1: 89,694,188 (GRCm39) probably null Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Apob C T 12: 8,035,408 (GRCm39) silent Het
Atg2a G C 19: 6,300,111 (GRCm39) A640P probably damaging Het
AW209491 G A 13: 14,812,193 (GRCm39) V349M probably damaging Het
Bmpr2 C T 1: 59,854,460 (GRCm39) T103I probably damaging Het
Btaf1 A C 19: 36,971,705 (GRCm39) E1231D probably benign Het
Btbd7 T C 12: 102,751,417 (GRCm39) R1116G probably damaging Het
Catsperg1 A T 7: 28,891,162 (GRCm39) M627K probably benign Het
Cdk7 G A 13: 100,854,126 (GRCm39) T121I probably benign Het
Csmd3 T A 15: 47,522,438 (GRCm39) T1833S Het
Dapk3 A T 10: 81,028,266 (GRCm39) R279W probably damaging Het
Dennd2b A C 7: 109,139,642 (GRCm39) D645E possibly damaging Het
Dnah9 T C 11: 65,998,856 (GRCm39) E1064G probably damaging Het
Dner T C 1: 84,673,226 (GRCm39) E75G probably benign Het
Dnmt1 T C 9: 20,847,855 (GRCm39) E229G possibly damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fen1 A T 19: 10,178,306 (GRCm39) V46D probably damaging Het
Ffar3 T C 7: 30,554,454 (GRCm39) R289G probably damaging Het
Fhod3 G A 18: 25,243,136 (GRCm39) E1165K possibly damaging Het
Fras1 A T 5: 96,783,923 (GRCm39) H809L probably damaging Het
Gbp7 A T 3: 142,249,870 (GRCm39) E447V probably benign Het
Gja8 T C 3: 96,827,521 (GRCm39) D47G probably damaging Het
Gm5795 A G 14: 14,883,574 (GRCm39) K144E probably benign Het
Gm7298 A C 6: 121,758,800 (GRCm39) Q1139H possibly damaging Het
Gpa33 A T 1: 165,992,730 (GRCm39) Y281F probably damaging Het
H2-M10.5 G A 17: 37,084,226 (GRCm39) E63K possibly damaging Het
Hgf T C 5: 16,823,956 (GRCm39) W718R probably damaging Het
Ifna5 C G 4: 88,754,046 (GRCm39) D95E probably benign Het
Ifnar2 T C 16: 91,201,073 (GRCm39) L438P possibly damaging Het
Ints1 T C 5: 139,744,326 (GRCm39) T1479A probably benign Het
Kif1a C T 1: 92,953,395 (GRCm39) R1263H probably damaging Het
Ltbp2 T C 12: 84,856,467 (GRCm39) T686A probably benign Het
Med12l A T 3: 59,163,294 (GRCm39) E1307V probably damaging Het
Mtcl1 T A 17: 66,651,062 (GRCm39) T1468S probably damaging Het
Myo9a C T 9: 59,775,427 (GRCm39) Q1013* probably null Het
Nckap5 T C 1: 126,623,491 (GRCm39) M1V probably null Het
Nos3 G T 5: 24,588,639 (GRCm39) V1122F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Odad1 T G 7: 45,585,988 (GRCm39) C128W probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or52n4 A T 7: 104,293,828 (GRCm39) C250* probably null Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
P2rx6 T A 16: 17,385,304 (GRCm39) H132Q possibly damaging Het
Pakap T C 4: 57,637,857 (GRCm39) C12R unknown Het
Pde6b T A 5: 108,536,592 (GRCm39) M96K possibly damaging Het
Polq T A 16: 36,843,159 (GRCm39) L231Q probably damaging Het
Pramel23 T C 4: 143,423,899 (GRCm39) I297V possibly damaging Het
Prrc2a G A 17: 35,378,844 (GRCm39) T399I unknown Het
Rapsn A G 2: 90,867,172 (GRCm39) D158G probably damaging Het
Rcor1 T A 12: 111,047,933 (GRCm39) probably benign Het
Sema4d G T 13: 51,867,794 (GRCm39) P186T probably damaging Het
Skic2 A C 17: 35,063,640 (GRCm39) L601R probably damaging Het
Slc4a7 G A 14: 14,773,241 (GRCm38) R737Q probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Sox15 T G 11: 69,546,529 (GRCm39) Y111D probably damaging Het
Spen C T 4: 141,200,938 (GRCm39) C2563Y probably damaging Het
Taf8 A T 17: 47,807,527 (GRCm39) D153E probably damaging Het
Tet3 G A 6: 83,345,253 (GRCm39) A1728V probably damaging Het
Tmem232 A T 17: 65,737,778 (GRCm39) D427E probably benign Het
Tmem53 T C 4: 117,125,451 (GRCm39) I188T probably benign Het
Tnc T G 4: 63,935,331 (GRCm39) D535A probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Tnik G A 3: 28,692,544 (GRCm39) G867R probably damaging Het
Uba3 A T 6: 97,162,694 (GRCm39) C367* probably null Het
Vmn1r235 G T 17: 21,481,969 (GRCm39) S98I possibly damaging Het
Vmn2r15 T C 5: 109,442,109 (GRCm39) E108G probably benign Het
Xrra1 T A 7: 99,525,462 (GRCm39) I127N probably benign Het
Zc3h18 G A 8: 123,129,963 (GRCm39) R447Q unknown Het
Zcwpw1 C A 5: 137,798,340 (GRCm39) P179Q probably damaging Het
Zfp526 C T 7: 24,925,264 (GRCm39) H508Y probably damaging Het
Zfp583 T C 7: 6,320,404 (GRCm39) K203E probably benign Het
Zfp979 A G 4: 147,697,504 (GRCm39) C402R possibly damaging Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A probably damaging Het
Other mutations in Fam171a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Fam171a1 APN 2 3,179,327 (GRCm39) missense possibly damaging 0.90
IGL01138:Fam171a1 APN 2 3,203,657 (GRCm39) missense possibly damaging 0.80
IGL01317:Fam171a1 APN 2 3,203,663 (GRCm39) missense probably damaging 1.00
IGL02377:Fam171a1 APN 2 3,224,623 (GRCm39) critical splice donor site probably null
IGL02475:Fam171a1 APN 2 3,224,527 (GRCm39) missense possibly damaging 0.53
IGL02477:Fam171a1 APN 2 3,203,612 (GRCm39) missense possibly damaging 0.83
ghosted UTSW 2 3,226,189 (GRCm39) nonsense probably null
R0167:Fam171a1 UTSW 2 3,187,469 (GRCm39) missense probably damaging 1.00
R0426:Fam171a1 UTSW 2 3,226,433 (GRCm39) missense probably benign
R0468:Fam171a1 UTSW 2 3,226,433 (GRCm39) missense probably benign
R0811:Fam171a1 UTSW 2 3,198,464 (GRCm39) missense probably damaging 1.00
R0812:Fam171a1 UTSW 2 3,198,464 (GRCm39) missense probably damaging 1.00
R1099:Fam171a1 UTSW 2 3,226,354 (GRCm39) missense probably benign 0.24
R1694:Fam171a1 UTSW 2 3,226,660 (GRCm39) missense probably benign 0.00
R1817:Fam171a1 UTSW 2 3,179,410 (GRCm39) missense probably benign 0.04
R1869:Fam171a1 UTSW 2 3,227,189 (GRCm39) missense possibly damaging 0.53
R1887:Fam171a1 UTSW 2 3,221,380 (GRCm39) missense probably damaging 1.00
R2173:Fam171a1 UTSW 2 3,226,656 (GRCm39) nonsense probably null
R2355:Fam171a1 UTSW 2 3,226,570 (GRCm39) nonsense probably null
R3690:Fam171a1 UTSW 2 3,227,393 (GRCm39) missense probably benign
R3723:Fam171a1 UTSW 2 3,221,412 (GRCm39) splice site probably benign
R3978:Fam171a1 UTSW 2 3,226,072 (GRCm39) missense probably benign
R4087:Fam171a1 UTSW 2 3,227,333 (GRCm39) missense probably damaging 0.97
R4647:Fam171a1 UTSW 2 3,221,328 (GRCm39) missense probably damaging 0.98
R4744:Fam171a1 UTSW 2 3,225,946 (GRCm39) missense probably damaging 1.00
R4777:Fam171a1 UTSW 2 3,224,550 (GRCm39) missense probably benign 0.03
R4786:Fam171a1 UTSW 2 3,226,615 (GRCm39) missense probably damaging 1.00
R4888:Fam171a1 UTSW 2 3,224,546 (GRCm39) missense probably damaging 0.98
R4982:Fam171a1 UTSW 2 3,179,505 (GRCm39) splice site probably null
R5137:Fam171a1 UTSW 2 3,226,426 (GRCm39) missense probably benign 0.01
R5203:Fam171a1 UTSW 2 3,224,582 (GRCm39) missense probably damaging 0.99
R5233:Fam171a1 UTSW 2 3,179,390 (GRCm39) missense probably damaging 1.00
R5304:Fam171a1 UTSW 2 3,226,654 (GRCm39) missense probably damaging 1.00
R5475:Fam171a1 UTSW 2 3,226,334 (GRCm39) missense possibly damaging 0.91
R5682:Fam171a1 UTSW 2 3,227,126 (GRCm39) missense probably damaging 1.00
R5865:Fam171a1 UTSW 2 3,226,374 (GRCm39) missense probably benign 0.01
R6322:Fam171a1 UTSW 2 3,227,392 (GRCm39) missense probably benign 0.24
R7082:Fam171a1 UTSW 2 3,224,512 (GRCm39) missense probably benign 0.00
R7141:Fam171a1 UTSW 2 3,226,189 (GRCm39) nonsense probably null
R7155:Fam171a1 UTSW 2 3,226,766 (GRCm39) missense probably benign 0.10
R7243:Fam171a1 UTSW 2 3,119,653 (GRCm39) missense probably benign 0.07
R7326:Fam171a1 UTSW 2 3,227,509 (GRCm39) nonsense probably null
R7477:Fam171a1 UTSW 2 3,226,676 (GRCm39) missense probably benign 0.03
R7574:Fam171a1 UTSW 2 3,221,391 (GRCm39) missense probably damaging 1.00
R7745:Fam171a1 UTSW 2 3,226,483 (GRCm39) missense possibly damaging 0.53
R7753:Fam171a1 UTSW 2 3,179,354 (GRCm39) missense probably damaging 0.98
R7871:Fam171a1 UTSW 2 3,226,421 (GRCm39) missense probably benign 0.12
R7958:Fam171a1 UTSW 2 3,179,298 (GRCm39) missense probably damaging 1.00
R8677:Fam171a1 UTSW 2 3,221,352 (GRCm39) missense probably damaging 0.98
R8793:Fam171a1 UTSW 2 3,187,535 (GRCm39) missense probably damaging 1.00
R8850:Fam171a1 UTSW 2 3,221,344 (GRCm39) missense probably damaging 1.00
R8865:Fam171a1 UTSW 2 3,226,940 (GRCm39) missense probably damaging 1.00
R9090:Fam171a1 UTSW 2 3,224,543 (GRCm39) missense probably damaging 1.00
R9251:Fam171a1 UTSW 2 3,226,525 (GRCm39) missense probably benign 0.06
R9271:Fam171a1 UTSW 2 3,224,543 (GRCm39) missense probably damaging 1.00
R9350:Fam171a1 UTSW 2 3,226,037 (GRCm39) missense probably benign 0.12
X0019:Fam171a1 UTSW 2 3,226,630 (GRCm39) missense probably benign 0.19
Z1177:Fam171a1 UTSW 2 3,225,971 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGCTCCTGTACCTTGAGGAC -3'
(R):5'- TTCTCCACACGCAGGTATG -3'

Sequencing Primer
(F):5'- TCCTGTACCTTGAGGACATGGAC -3'
(R):5'- GCACTTCCATGAGAAAGGATATTTGG -3'
Posted On 2021-10-11