Incidental Mutation 'R4435:Fam169a'
ID 329499
Institutional Source Beutler Lab
Gene Symbol Fam169a
Ensembl Gene ENSMUSG00000041817
Gene Name family with sequence similarity 169, member A
Synonyms B230112C05Rik
MMRRC Submission 041149-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4435 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 97203795-97266801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97263248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 567 (D567G)
Ref Sequence ENSEMBL: ENSMUSP00000126209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000073456] [ENSMUST00000169863] [ENSMUST00000225410]
AlphaFold Q5XG69
Predicted Effect probably damaging
Transcript: ENSMUST00000042517
AA Change: D567G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: D567G

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 damaging
Transcript: ENSMUST00000169863
AA Change: D567G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: D567G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Ank3 C T 10: 69,822,900 (GRCm39) S523L probably damaging Het
Arap1 C A 7: 101,039,461 (GRCm39) R574S possibly damaging Het
Arhgap25 T C 6: 87,439,920 (GRCm39) I576V possibly damaging Het
Ascc3 T A 10: 50,597,981 (GRCm39) V1283D probably benign Het
Asnsd1 A T 1: 53,387,232 (GRCm39) probably null Het
Asrgl1 C T 19: 9,096,563 (GRCm39) V125I probably damaging Het
Bccip A G 7: 133,320,942 (GRCm39) R239G probably benign Het
Cdyl T C 13: 36,042,233 (GRCm39) probably null Het
Cyfip1 T C 7: 55,549,789 (GRCm39) I650T probably damaging Het
Dennd4c C A 4: 86,716,312 (GRCm39) Q506K probably benign Het
Fam135b T C 15: 71,320,588 (GRCm39) D1313G probably damaging Het
Gm5134 T G 10: 75,831,658 (GRCm39) S366A probably damaging Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpn3 A G 5: 122,520,115 (GRCm39) D223G probably benign Het
Hk1 A G 10: 62,111,623 (GRCm39) Y713H probably damaging Het
Ifih1 A G 2: 62,476,234 (GRCm39) L14P probably damaging Het
Kmt2c A T 5: 25,519,875 (GRCm39) N2078K possibly damaging Het
Maf T A 8: 116,433,592 (GRCm39) E4V unknown Het
Mbtd1 T A 11: 93,823,048 (GRCm39) D489E probably benign Het
Myrip C T 9: 120,164,680 (GRCm39) probably benign Het
Nedd4l A G 18: 65,345,896 (GRCm39) D816G possibly damaging Het
Nwd1 T C 8: 73,414,764 (GRCm39) V934A possibly damaging Het
Or2a12 T A 6: 42,905,023 (GRCm39) I286N probably damaging Het
Or5ae1 A G 7: 84,565,229 (GRCm39) M81V probably benign Het
Psd A T 19: 46,302,933 (GRCm39) I158N probably damaging Het
Ptprq A G 10: 107,520,916 (GRCm39) V752A possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Senp2 T A 16: 21,832,991 (GRCm39) V93E possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Slc38a4 T C 15: 96,906,899 (GRCm39) S280G probably benign Het
Sos2 T C 12: 69,661,473 (GRCm39) E666G possibly damaging Het
Strip2 T C 6: 29,925,049 (GRCm39) V129A probably benign Het
Tsc2 G A 17: 24,818,687 (GRCm39) P1450L probably benign Het
Ttn T C 2: 76,747,219 (GRCm39) E4610G probably benign Het
Uimc1 T C 13: 55,223,636 (GRCm39) E212G probably damaging Het
Zc3h18 T C 8: 123,140,691 (GRCm39) probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign 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
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'- AAGCCCATCTGATGATAAAGGAC -3'
(R):5'- AGCTGCTATCCACAGCTTTC -3'

Sequencing Primer
(F):5'- CCCATCTGATGATAAAGGACATACTG -3'
(R):5'- TCTCTGCTGACTGTGTAAACTG -3'
Posted On 2015-07-21