Incidental Mutation 'R1099:Fam171a1'
ID 97833
Institutional Source Beutler Lab
Gene Symbol Fam171a1
Ensembl Gene ENSMUSG00000050530
Gene Name family with sequence similarity 171, member A1
Synonyms 9630050M13Rik
MMRRC Submission 039173-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R1099 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 3115261-3228843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3226354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 371 (S371T)
Ref Sequence ENSEMBL: ENSMUSP00000072724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062934] [ENSMUST00000072955] [ENSMUST00000091505] [ENSMUST00000115099]
AlphaFold A2ATK9
Predicted Effect probably benign
Transcript: ENSMUST00000062934
AA Change: S491T

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000053619
Gene: ENSMUSG00000050530
AA Change: S491T

DomainStartEndE-ValueType
Pfam:UPF0560 29 885 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072955
AA Change: S371T

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000072724
Gene: ENSMUSG00000050530
AA Change: S371T

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: S496T

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110751
Gene: ENSMUSG00000050530
AA Change: S496T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:UPF0560 34 890 N/A PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca7 G T 10: 79,849,577 (GRCm39) E1921* probably null Het
Acnat2 G A 4: 49,380,484 (GRCm39) T298I probably benign Het
Agbl4 T C 4: 110,812,860 (GRCm39) probably null Het
Angpt2 T A 8: 18,749,149 (GRCm39) T323S probably damaging Het
Ano2 A G 6: 125,784,810 (GRCm39) K299R probably damaging Het
Armc2 G T 10: 41,793,183 (GRCm39) Q814K probably benign Het
Atp9b A C 18: 80,901,841 (GRCm39) I263S probably damaging Het
Cadps2 A G 6: 23,599,478 (GRCm39) I276T probably damaging Het
Casp12 T A 9: 5,352,204 (GRCm39) H135Q probably benign Het
Ccdc180 A G 4: 45,914,225 (GRCm39) I621V probably benign Het
Cd160 G A 3: 96,713,156 (GRCm39) A36V probably damaging Het
Ctcfl A T 2: 172,954,153 (GRCm39) C315S probably damaging Het
Egflam A G 15: 7,281,903 (GRCm39) V411A probably benign Het
Ezh1 T C 11: 101,084,634 (GRCm39) probably null Het
Hspbap1 T G 16: 35,645,314 (GRCm39) F333C probably damaging Het
Ky G C 9: 102,414,923 (GRCm39) W278C probably damaging Het
Lrig3 T A 10: 125,842,883 (GRCm39) probably null Het
Map3k6 A T 4: 132,974,439 (GRCm39) S580C probably damaging Het
Mark2 T C 19: 7,254,790 (GRCm39) T219A probably benign Het
Mbd5 A G 2: 49,148,156 (GRCm39) I789V probably benign Het
Myo18a T A 11: 77,709,727 (GRCm39) probably null Het
Nos1 A G 5: 118,061,460 (GRCm39) T929A probably damaging Het
Or2a20 T C 6: 43,194,558 (GRCm39) F237S probably damaging Het
Or2z9 T A 8: 72,854,503 (GRCm39) S300T probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Palmd T C 3: 116,716,874 (GRCm39) N541S possibly damaging Het
Pdzd2 A G 15: 12,373,173 (GRCm39) S2321P probably damaging Het
Prdm8 T G 5: 98,331,361 (GRCm39) I71S probably damaging Het
Prkg1 A C 19: 30,549,012 (GRCm39) S654R probably benign Het
Psmf1 A T 2: 151,560,590 (GRCm39) H260Q probably damaging Het
Rp1 A T 1: 4,422,513 (GRCm39) I179N possibly damaging Het
Rreb1 A G 13: 38,132,867 (GRCm39) K1681E probably benign Het
Rtn1 A T 12: 72,351,241 (GRCm39) probably null Het
Scaf4 T A 16: 90,059,986 (GRCm39) I37F unknown Het
Sema4c A G 1: 36,591,191 (GRCm39) S383P probably damaging Het
Shc4 G T 2: 125,564,764 (GRCm39) D178E probably benign Het
Slc2a5 A G 4: 150,226,636 (GRCm39) N366S probably benign Het
Slc6a3 A G 13: 73,715,760 (GRCm39) N465S probably benign Het
Tbc1d9b C A 11: 50,037,135 (GRCm39) D261E probably benign Het
Tdrd3 A T 14: 87,724,675 (GRCm39) T359S probably damaging Het
Thap3 T C 4: 152,067,788 (GRCm39) M97V probably benign Het
Thg1l T A 11: 45,844,988 (GRCm39) Q88L possibly damaging Het
Tjp3 T C 10: 81,109,657 (GRCm39) T849A probably benign Het
Tomm70a G T 16: 56,963,180 (GRCm39) D400Y probably damaging Het
Trak2 T C 1: 58,961,000 (GRCm39) I177V probably benign Het
Trim66 T C 7: 109,074,661 (GRCm39) I533M probably benign Het
Ush2a T A 1: 188,380,545 (GRCm39) Y2285N probably benign Het
Ush2a C T 1: 188,596,836 (GRCm39) P3859S 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
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
R9016:Fam171a1 UTSW 2 3,227,434 (GRCm39) missense probably benign 0.43
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'- GAGCTGCTGTCCCACAAAGAAGAG -3'
(R):5'- ACGCTGTCATTGACTTGGTCCAC -3'

Sequencing Primer
(F):5'- CTGTCCCACAAAGAAGAGGATAAAAG -3'
(R):5'- GTCATTGACTTGGTCCACAGAAC -3'
Posted On 2014-01-05