Incidental Mutation 'R7711:Fam169a'
ID 594636
Institutional Source Beutler Lab
Gene Symbol Fam169a
Ensembl Gene ENSMUSG00000041817
Gene Name family with sequence similarity 169, member A
Synonyms B230112C05Rik
MMRRC Submission 045769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7711 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 97203795-97266801 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 97263196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 550 (E550*)
Ref Sequence ENSEMBL: ENSMUSP00000043738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000073456] [ENSMUST00000169863] [ENSMUST00000225410]
AlphaFold Q5XG69
Predicted Effect probably null
Transcript: ENSMUST00000042517
AA Change: E550*
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: E550*

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: ENSMUST00000073456
SMART Domains Protein: ENSMUSP00000073161
Gene: ENSMUSG00000060739

DomainStartEndE-ValueType
Pfam:Ribosomal_S8e 1 259 1.3e-49 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169863
AA Change: E550*
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: E550*

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: ENSMUST00000225410
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,886,723 (GRCm39) E342K possibly damaging Het
9430015G10Rik T G 4: 156,203,649 (GRCm39) V34G probably damaging Het
Alkbh3 T C 2: 93,838,437 (GRCm39) S44G probably benign Het
Alpk2 A T 18: 65,439,555 (GRCm39) C613S probably benign Het
Aplp2 G A 9: 31,072,645 (GRCm39) R488C probably damaging Het
Arid1b A G 17: 5,387,095 (GRCm39) N1463S probably benign Het
Atxn2l A T 7: 126,100,441 (GRCm39) L125Q probably damaging Het
Cd3d A G 9: 44,897,634 (GRCm39) K172E probably benign Het
Chd7 T A 4: 8,805,234 (GRCm39) D764E probably benign Het
Col19a1 T C 1: 24,569,089 (GRCm39) I220V unknown Het
Cpq T C 15: 33,497,493 (GRCm39) I411T probably benign Het
Crybg2 C A 4: 133,792,844 (GRCm39) H160N probably benign Het
Cryl1 A T 14: 57,513,013 (GRCm39) C285S probably benign Het
Dapk1 A G 13: 60,909,365 (GRCm39) D1326G probably damaging Het
Dgkh A G 14: 78,962,459 (GRCm39) V24A probably benign Het
Dnajb4 A C 3: 151,892,154 (GRCm39) S226R probably benign Het
Dnm3 A T 1: 161,819,622 (GRCm39) I850N possibly damaging Het
Dtna G T 18: 23,758,253 (GRCm39) probably null Het
Efcab6 G T 15: 83,834,125 (GRCm39) D494E probably benign Het
Fbxw7 A G 3: 84,832,988 (GRCm39) N10S probably benign Het
Flrt2 T C 12: 95,747,528 (GRCm39) F622S probably damaging Het
Gprc5d G A 6: 135,093,355 (GRCm39) T184I possibly damaging Het
Grem2 A G 1: 174,664,693 (GRCm39) V52A probably damaging Het
Gtf3c2 G T 5: 31,327,533 (GRCm39) T310N probably damaging Het
H2-T13 T A 17: 36,394,770 (GRCm39) N51I probably damaging Het
Hyou1 A G 9: 44,295,759 (GRCm39) D338G possibly damaging Het
Ifna6 T C 4: 88,745,971 (GRCm39) S107P probably benign Het
Kif14 G T 1: 136,399,191 (GRCm39) G451C probably benign Het
Kit T A 5: 75,798,019 (GRCm39) F436I probably damaging Het
Lonp2 G A 8: 87,440,636 (GRCm39) C751Y probably damaging Het
Lonrf1 C A 8: 36,716,375 (GRCm39) G87C probably damaging Het
Lrp2 T C 2: 69,309,687 (GRCm39) probably null Het
Lrrc37 G T 11: 103,505,738 (GRCm39) Q2077K probably benign Het
Mkln1 A G 6: 31,469,584 (GRCm39) H598R probably damaging Het
Mmaa T C 8: 79,994,774 (GRCm39) H344R probably benign Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myh7b T G 2: 155,462,323 (GRCm39) L342R probably damaging Het
Or12e8 A G 2: 87,187,871 (GRCm39) N28D probably benign Het
Or2h2b-ps1 C T 17: 37,480,847 (GRCm39) G129R probably damaging Het
Or4f4-ps1 T A 2: 111,330,497 (GRCm39) I300K probably damaging Het
Or7e178 A T 9: 20,225,319 (GRCm39) V299E possibly damaging Het
Pcsk5 T A 19: 17,416,444 (GRCm39) Y1668F possibly damaging Het
Pfn4 C T 12: 4,824,414 (GRCm39) T47I possibly damaging Het
Pklr T C 3: 89,048,649 (GRCm39) L104P probably damaging Het
Plcxd2 A G 16: 45,800,693 (GRCm39) V177A probably benign Het
Pramel16 T C 4: 143,675,822 (GRCm39) S335G probably benign Het
Prdm10 G T 9: 31,268,528 (GRCm39) A826S probably damaging Het
Prrt4 A G 6: 29,177,455 (GRCm39) S105P probably benign Het
Prss51 T A 14: 64,334,937 (GRCm39) V164E probably damaging Het
Psap T C 10: 60,135,634 (GRCm39) V360A probably damaging Het
Psg22 T C 7: 18,452,267 (GRCm39) probably null Het
Qrfprl A G 6: 65,418,357 (GRCm39) H23R Het
Rad51 A G 2: 118,962,071 (GRCm39) Q206R probably benign Het
Rap1gds1 T C 3: 138,664,874 (GRCm39) K277R probably benign Het
Rassf2 T A 2: 131,847,297 (GRCm39) T103S probably benign Het
Rbm15b T A 9: 106,763,142 (GRCm39) H342L possibly damaging Het
Rsf1 G GACCGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Scaf8 T C 17: 3,237,909 (GRCm39) F561L probably damaging Het
Scn1a G A 2: 66,134,004 (GRCm39) A130V probably benign Het
Scn7a T C 2: 66,531,221 (GRCm39) E552G probably damaging Het
Slc39a14 T A 14: 70,551,124 (GRCm39) R183W probably damaging Het
Slfn1 A T 11: 83,012,089 (GRCm39) K68N possibly damaging Het
Slx4ip A G 2: 136,909,914 (GRCm39) D303G probably damaging Het
Snx17 T A 5: 31,352,804 (GRCm39) F101Y probably damaging Het
Spata31e3 T G 13: 50,401,131 (GRCm39) R398S probably benign Het
Specc1l C A 10: 75,066,642 (GRCm39) N30K probably benign Het
Spmip2 A G 3: 79,313,167 (GRCm39) I80M probably damaging Het
Tbx19 A G 1: 164,966,768 (GRCm39) S369P probably benign Het
Usp17ld T C 7: 102,899,489 (GRCm39) H481R probably damaging Het
Wnt2 A G 6: 17,990,036 (GRCm39) L287P probably benign Het
Zfhx4 G T 3: 5,462,016 (GRCm39) M1230I probably damaging Het
Zfp1 T C 8: 112,396,794 (GRCm39) C272R not run Het
Zfp458 A G 13: 67,407,664 (GRCm39) S64P 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
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
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'- ACCTCACCTGATACTGACTCAG -3'
(R):5'- AACTGTTCCAGGTGCTCAGAG -3'

Sequencing Primer
(F):5'- CACCTGATACTGACTCAGAAATGTTG -3'
(R):5'- TCAGAGGACGCTTCAGACTGTTC -3'
Posted On 2019-11-12