Incidental Mutation 'R1434:Fam172a'
ID159406
Institutional Source Beutler Lab
Gene Symbol Fam172a
Ensembl Gene ENSMUSG00000064138
Gene Namefamily with sequence similarity 172, member A
SynonymspEN87, 2610318O14Rik, 53-E6, 9430037D06Rik, 1110033M05Rik
MMRRC Submission 039489-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #R1434 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location77702033-78166235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77761922 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 98 (Y98F)
Ref Sequence ENSEMBL: ENSMUSP00000133140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000224217] [ENSMUST00000224908] [ENSMUST00000225623]
Predicted Effect probably damaging
Transcript: ENSMUST00000091459
AA Change: Y52F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
AA Change: Y52F

DomainStartEndE-ValueType
Pfam:Arb2 30 178 7.8e-38 PFAM
SCOP:d1imja_ 224 295 2e-3 SMART
low complexity region 341 354 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099358
AA Change: Y52F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
AA Change: Y52F

DomainStartEndE-ValueType
SCOP:d1imja_ 160 231 2e-3 SMART
low complexity region 277 290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163257
AA Change: Y98F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
AA Change: Y98F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Arb2 78 228 3.5e-44 PFAM
SCOP:d1imja_ 270 341 2e-3 SMART
low complexity region 387 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224013
Predicted Effect probably damaging
Transcript: ENSMUST00000224217
AA Change: Y52F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224889
Predicted Effect probably benign
Transcript: ENSMUST00000224908
Predicted Effect probably benign
Transcript: ENSMUST00000225623
Meta Mutation Damage Score 0.394 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 99% (73/74)
MGI Phenotype Homozygous null male mice exhibit reduced male fertility in spite of normal morphology and sperm count.,NO_PHENOTYPE
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4430402I18Rik G T 19: 28,927,639 probably benign Het
Abca12 G T 1: 71,309,800 H851N probably benign Het
Adamtsl4 T C 3: 95,680,784 Y631C probably damaging Het
Ankhd1 A G 18: 36,625,159 I969V probably benign Het
Apob A G 12: 8,009,715 I2699M probably damaging Het
Aqr A T 2: 114,150,409 L297Q probably damaging Het
BC067074 G A 13: 113,368,492 V510I possibly damaging Het
Camsap1 A G 2: 25,945,178 Y301H probably damaging Het
Ccdc88c A G 12: 100,939,166 probably benign Het
Cd209b T A 8: 3,923,367 I106F possibly damaging Het
Cdkn1b T A 6: 134,921,097 W60R probably damaging Het
Coasy A G 11: 101,084,996 probably benign Het
Col2a1 T A 15: 97,979,651 Q1017L probably damaging Het
Ctnnal1 T A 4: 56,847,971 N56I probably damaging Het
Cyb561d2 T A 9: 107,541,643 probably benign Het
Dcst1 G T 3: 89,352,519 T632N probably damaging Het
Ddx1 C T 12: 13,237,231 V267I probably benign Het
Dnah10 A T 5: 124,774,986 M1736L probably benign Het
Eln G A 5: 134,729,437 probably benign Het
Enpp2 A T 15: 54,862,681 D566E probably damaging Het
Ezh1 T C 11: 101,194,917 K638R probably damaging Het
Fdx1l C A 9: 21,073,398 G37W probably benign Het
Grin2b T C 6: 135,843,195 I340V probably benign Het
Ikbkap T A 4: 56,781,193 E493D probably benign Het
Il16 T C 7: 83,655,312 T671A probably benign Het
Kcnd2 T A 6: 21,216,357 M20K probably damaging Het
Kndc1 C T 7: 139,922,684 S962F probably damaging Het
L1td1 A G 4: 98,737,817 S750G possibly damaging Het
Lama2 A G 10: 27,208,370 C935R probably damaging Het
Lgalsl T C 11: 20,826,418 D158G possibly damaging Het
Lman1 A T 18: 65,993,073 probably null Het
Lmtk2 A G 5: 144,174,589 E709G probably damaging Het
Lrfn3 T C 7: 30,355,927 H531R possibly damaging Het
Mark3 A G 12: 111,623,325 probably benign Het
Mov10 T C 3: 104,795,174 E997G probably damaging Het
Myo15 T A 11: 60,504,331 W2484R probably benign Het
Myo1g G T 11: 6,509,372 Q833K probably benign Het
Ncoa3 T A 2: 166,055,510 D740E probably benign Het
Nol12 A G 15: 78,937,953 probably benign Het
Nrxn2 T A 19: 6,443,612 probably null Het
Nsfl1c A C 2: 151,500,746 I79L probably benign Het
Olfr1462 A G 19: 13,191,298 I210M probably benign Het
Olfr173 G T 16: 58,797,448 H133N probably benign Het
Olfr691 T C 7: 105,337,261 I152V probably benign Het
Osbpl8 A C 10: 111,291,581 E842A probably benign Het
Pdxk G T 10: 78,440,811 T310K probably benign Het
Phip T G 9: 82,959,605 K54Q probably damaging Het
Pklr A T 3: 89,143,035 D366V probably damaging Het
Plxna2 T A 1: 194,751,540 probably benign Het
Ppp4r3a A T 12: 101,043,524 V618E probably damaging Het
Prdm12 A T 2: 31,640,307 Q70L possibly damaging Het
Ptpn21 A T 12: 98,688,590 M706K probably damaging Het
Ptprq A T 10: 107,586,714 F1606I probably damaging Het
Rasgrp4 T C 7: 29,137,727 probably null Het
Rlbp1 C A 7: 79,379,913 probably null Het
Rtp2 T C 16: 23,927,443 D166G probably benign Het
Ryr3 A C 2: 112,645,259 F4481V probably damaging Het
Scn2a A G 2: 65,701,991 D649G possibly damaging Het
Slc30a5 T A 13: 100,803,442 D655V probably damaging Het
Slco5a1 G A 1: 12,871,908 A838V probably benign Het
Srprb A G 9: 103,190,302 V239A probably damaging Het
Tceanc2 T C 4: 107,147,640 T104A probably benign Het
Tcp1 T C 17: 12,922,606 probably null Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr19 G A 5: 65,223,504 probably benign Het
Zadh2 A G 18: 84,094,471 K91E probably benign Het
Zfhx4 T A 3: 5,241,859 H48Q probably benign Het
Zfp787 T A 7: 6,132,235 H339L probably damaging Het
Zfp839 G T 12: 110,860,899 R408L probably benign Het
Other mutations in Fam172a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Fam172a APN 13 77951975 splice site probably benign
IGL01455:Fam172a APN 13 77902647 splice site probably benign
IGL01534:Fam172a APN 13 77999711 splice site probably benign
IGL01812:Fam172a APN 13 77761847 nonsense probably null
R0107:Fam172a UTSW 13 77902814 missense probably damaging 0.98
R0329:Fam172a UTSW 13 77761951 intron probably benign
R0455:Fam172a UTSW 13 77834713 splice site probably benign
R1112:Fam172a UTSW 13 77761886 missense probably damaging 1.00
R1547:Fam172a UTSW 13 77825390 critical splice donor site probably null
R1667:Fam172a UTSW 13 77759516 start codon destroyed probably null 0.04
R1961:Fam172a UTSW 13 77902720 missense probably benign 0.24
R2018:Fam172a UTSW 13 77999637 missense possibly damaging 0.49
R5878:Fam172a UTSW 13 77952067 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATTGTGGTCCCAGGTAGCCCT -3'
(R):5'- CCATGTAAACGACTCACTGGAAAGTCA -3'

Sequencing Primer
(F):5'- CACTCTCATGGCATTATCTGGTAGG -3'
(R):5'- TGAAGGCCATGTTGGCAT -3'
Posted On2014-03-14