Incidental Mutation 'R4896:Fam169a'
ID 377671
Institutional Source Beutler Lab
Gene Symbol Fam169a
Ensembl Gene ENSMUSG00000041817
Gene Name family with sequence similarity 169, member A
Synonyms B230112C05Rik
MMRRC Submission 042500-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4896 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 97203795-97266801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97234100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 124 (Y124C)
Ref Sequence ENSEMBL: ENSMUSP00000126209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000071118] [ENSMUST00000169863]
AlphaFold Q5XG69
Predicted Effect probably damaging
Transcript: ENSMUST00000042517
AA Change: Y124C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: Y124C

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: ENSMUST00000071118
SMART Domains Protein: ENSMUSP00000132645
Gene: ENSMUSG00000057762

DomainStartEndE-ValueType
Pfam:MARVEL 19 132 2.2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000169863
AA Change: Y124C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: Y124C

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
Meta Mutation Damage Score 0.5492 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 99% (101/102)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,957,267 (GRCm39) V132A possibly damaging Het
Acp3 A T 9: 104,184,174 (GRCm39) V292E probably damaging Het
Adamts10 T C 17: 33,747,870 (GRCm39) V102A possibly damaging Het
Add2 A G 6: 86,073,728 (GRCm39) T206A probably benign Het
Alg12 A T 15: 88,700,391 (GRCm39) L15Q probably damaging Het
Ankrd27 T A 7: 35,307,800 (GRCm39) D346E probably damaging Het
Armc2 A T 10: 41,799,790 (GRCm39) N689K probably damaging Het
Best3 T A 10: 116,860,460 (GRCm39) D573E probably benign Het
Bltp1 T G 3: 37,020,086 (GRCm39) N2108K probably damaging Het
Ccdc80 A T 16: 44,916,261 (GRCm39) Q339L probably benign Het
Cdh9 T C 15: 16,778,242 (GRCm39) V19A probably benign Het
Cimap1a G A 7: 140,428,398 (GRCm39) probably benign Het
Cnksr1 A T 4: 133,956,986 (GRCm39) probably null Het
Col7a1 T A 9: 108,786,345 (GRCm39) V525E unknown Het
Cplane1 T C 15: 8,251,421 (GRCm39) S1898P probably benign Het
Crebrf T C 17: 26,961,394 (GRCm39) S172P possibly damaging Het
Csmd1 T C 8: 16,059,439 (GRCm39) I2099V probably benign Het
Dcaf4 T A 12: 83,586,233 (GRCm39) M400K possibly damaging Het
Dnah11 A T 12: 117,958,935 (GRCm39) F2983I probably damaging Het
Dock6 A G 9: 21,735,733 (GRCm39) V1005A possibly damaging Het
Dyrk2 C A 10: 118,704,153 (GRCm39) G34C probably damaging Het
Eif4a1 A T 11: 69,559,423 (GRCm39) probably benign Het
Eno4 G T 19: 58,952,975 (GRCm39) D330Y probably damaging Het
Faf1 G A 4: 109,699,496 (GRCm39) C347Y probably benign Het
Fam227a G T 15: 79,521,255 (GRCm39) F269L probably benign Het
Fancm C A 12: 65,122,605 (GRCm39) D42E probably damaging Het
Fat1 T A 8: 45,404,317 (GRCm39) I356N possibly damaging Het
Fer1l6 A T 15: 58,509,869 (GRCm39) T1444S probably damaging Het
Galr1 A G 18: 82,412,065 (GRCm39) L267P probably damaging Het
Gbx1 T C 5: 24,709,837 (GRCm39) H336R probably damaging Het
Gimap8 A T 6: 48,636,281 (GRCm39) Q682L possibly damaging Het
Gm2396 T G 9: 88,813,281 (GRCm39) noncoding transcript Het
Gm5798 T C 14: 41,070,614 (GRCm39) L8S probably damaging Het
Hmgcll1 C T 9: 75,963,460 (GRCm39) S39F possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Il3ra A T 14: 14,355,381 (GRCm38) E289D probably benign Het
Isoc1 T A 18: 58,806,350 (GRCm39) L220Q probably damaging Het
Itga2 T A 13: 114,990,302 (GRCm39) K918* probably null Het
Kat6a C T 8: 23,428,329 (GRCm39) T1228I probably benign Het
Klhl30 T A 1: 91,287,046 (GRCm39) probably null Het
Krtap6-2 A T 16: 89,216,806 (GRCm39) C54S unknown Het
Lmf2 G A 15: 89,236,003 (GRCm39) P634S probably benign Het
Map3k4 A G 17: 12,490,906 (GRCm39) V175A possibly damaging Het
Mcm3 A C 1: 20,890,480 (GRCm39) probably benign Het
Mon1b T C 8: 114,365,859 (GRCm39) S396P probably damaging Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Ncor2 A G 5: 125,126,404 (GRCm39) probably null Het
Nlrc5 T G 8: 95,247,844 (GRCm39) probably benign Het
Nlrp14 GT GTT 7: 106,796,386 (GRCm39) probably null Het
Nwd2 T G 5: 63,962,151 (GRCm39) S578R probably damaging Het
Or12k7 A G 2: 36,958,422 (GRCm39) Y35C probably damaging Het
Or4f4b G A 2: 111,314,005 (GRCm39) V105I possibly damaging Het
Otoa C A 7: 120,701,902 (GRCm39) P194T probably damaging Het
Pde1b A C 15: 103,429,801 (GRCm39) D98A probably damaging Het
Pi4ka A T 16: 17,195,033 (GRCm39) C122S probably damaging Het
Pole2 C T 12: 69,269,924 (GRCm39) V67M probably damaging Het
Prickle2 A T 6: 92,393,736 (GRCm39) D312E probably benign Het
Prkd1 T C 12: 50,436,745 (GRCm39) D453G probably damaging Het
Prrc1 T A 18: 57,507,626 (GRCm39) V260E probably damaging Het
Reg3g A T 6: 78,444,793 (GRCm39) Y62N probably benign Het
Reln C T 5: 22,160,236 (GRCm39) G2111E probably damaging Het
Rsph6a A T 7: 18,791,665 (GRCm39) E278V possibly damaging Het
Scpep1 T A 11: 88,832,122 (GRCm39) I203F probably damaging Het
Sec24d T C 3: 123,148,596 (GRCm39) C747R probably damaging Het
Sec31a A T 5: 100,516,192 (GRCm39) N967K probably damaging Het
Sell T C 1: 163,890,631 (GRCm39) W5R probably benign Het
Siglec1 C T 2: 130,911,789 (GRCm39) V1697M probably benign Het
Sinhcaf A G 6: 148,834,498 (GRCm39) probably null Het
Slc22a26 T A 19: 7,768,419 (GRCm39) I213L probably benign Het
Slc2a13 G A 15: 91,296,415 (GRCm39) P300S probably benign Het
Slco1a4 A G 6: 141,761,231 (GRCm39) Y461H possibly damaging Het
Slco3a1 G C 7: 73,970,304 (GRCm39) C434W probably null Het
Sp3 A T 2: 72,768,633 (GRCm39) V666D probably benign Het
Spidr A T 16: 15,936,806 (GRCm39) W100R possibly damaging Het
Stk33 T A 7: 108,926,802 (GRCm39) M286L probably damaging Het
Sult1c2 T A 17: 54,139,163 (GRCm39) I183F probably benign Het
Svep1 G T 4: 58,087,751 (GRCm39) T1776K probably benign Het
Tesk2 A G 4: 116,660,190 (GRCm39) H436R probably benign Het
Tex2 T C 11: 106,459,230 (GRCm39) T67A probably damaging Het
Timm10 T C 2: 84,660,192 (GRCm39) S44P possibly damaging Het
Tmed11 C A 5: 108,943,048 (GRCm39) probably null Het
Trim12c G A 7: 103,990,155 (GRCm39) R441C probably damaging Het
Trmt2a A G 16: 18,070,793 (GRCm39) K509E probably damaging Het
Upk3a A G 15: 84,903,624 (GRCm39) T108A probably benign Het
Usp29 A G 7: 6,965,158 (GRCm39) M334V probably benign Het
Vash1 A G 12: 86,726,916 (GRCm39) D52G probably benign Het
Vmn2r14 T G 5: 109,368,246 (GRCm39) T249P probably benign Het
Vmn2r43 A T 7: 8,247,848 (GRCm39) F772I probably damaging Het
Vmn2r75 G T 7: 85,820,787 (GRCm39) S49Y probably benign Het
Xdh T C 17: 74,217,238 (GRCm39) T677A probably damaging Het
Zan A G 5: 137,384,718 (GRCm39) L5102P unknown Het
Zfp160 T A 17: 21,240,343 (GRCm39) S9T probably benign Het
Zfp273 A T 13: 67,973,673 (GRCm39) H267L probably damaging Het
Zfp97 T A 17: 17,365,038 (GRCm39) I179K probably benign Het
Zfp975 T C 7: 42,311,716 (GRCm39) Y299C probably 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
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'- GTTTTGCATGACAGTAGGAGC -3'
(R):5'- AAGTGCGAGCATCTCAATTTG -3'

Sequencing Primer
(F):5'- TTTGCATGACAGTAGGAGCTGAGG -3'
(R):5'- AGCATCTCAATTTGCTCTCTAGGG -3'
Posted On 2016-03-17