Incidental Mutation 'R5878:Fam172a'
ID455670
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 044084-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #R5878 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location77702033-78166235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 77952067 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 129 (V129E)
Ref Sequence ENSEMBL: ENSMUSP00000153065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000224217] [ENSMUST00000224908] [ENSMUST00000225623]
Predicted Effect probably damaging
Transcript: ENSMUST00000091459
AA Change: V245E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
AA Change: V245E

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: V181E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
AA Change: V181E

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: V291E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
AA Change: V291E

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 probably benign
Transcript: ENSMUST00000224217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224889
Predicted Effect probably damaging
Transcript: ENSMUST00000224908
AA Change: V129E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225623
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 99% (66/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik T A 1: 105,692,960 S387T probably benign Het
Abca12 A T 1: 71,346,633 N275K possibly damaging Het
Abhd6 G A 14: 8,028,286 V6I probably benign Het
Afap1l2 T C 19: 56,915,675 T727A probably benign Het
Aggf1 T C 13: 95,369,557 E174G probably benign Het
Ahnak T G 19: 9,008,342 L2330R probably damaging Het
Arfgef2 A G 2: 166,870,217 T1205A probably benign Het
Ccdc3 T C 2: 5,229,016 L217P probably benign Het
Cfap54 T C 10: 92,964,561 D1595G probably benign Het
Cps1 G T 1: 67,157,878 probably null Het
Fam120b A G 17: 15,402,240 D160G probably damaging Het
Fezf1 C A 6: 23,247,581 R165L possibly damaging Het
Fkbp15 A T 4: 62,306,908 L838H probably benign Het
Frmd3 G A 4: 74,153,610 G243D probably damaging Het
Gldc A T 19: 30,143,467 probably null Het
Gm10188 T C 1: 132,229,202 probably benign Het
Gm5190 T A 12: 113,397,239 noncoding transcript Het
Gria1 T C 11: 57,317,802 probably null Het
Hdhd5 A G 6: 120,514,524 L206P probably damaging Het
Herc2 A G 7: 56,124,248 N1149S probably benign Het
Inca1 G A 11: 70,695,982 probably benign Het
Iqch G A 9: 63,547,990 S175F probably damaging Het
Itpr3 T G 17: 27,110,862 D1543E probably benign Het
Khk T A 5: 30,930,875 probably null Het
Kiz C T 2: 146,889,601 S337L probably damaging Het
Lzts3 G A 2: 130,636,539 T213I probably damaging Het
Mab21l2 T A 3: 86,546,718 D325V probably damaging Het
Mctp2 A G 7: 72,214,108 S336P probably benign Het
Me3 T A 7: 89,848,006 L405Q probably benign Het
Mgst2 A T 3: 51,661,230 probably benign Het
Myh2 A G 11: 67,192,504 E1431G probably damaging Het
Naip6 A G 13: 100,299,673 S781P probably damaging Het
Nr3c2 A G 8: 76,908,268 probably null Het
Olfr509 A T 7: 108,645,739 L279Q probably damaging Het
Olfr750 A G 14: 51,070,992 Y134H probably damaging Het
Olfr986 C T 9: 40,187,571 T152I probably benign Het
Otop1 G T 5: 38,277,822 R132L possibly damaging Het
Parg T A 14: 32,217,662 D548E possibly damaging Het
Pcdhga4 G T 18: 37,687,686 G763W probably benign Het
Pde10a A G 17: 8,949,372 N9S possibly damaging Het
Pi4k2a T C 19: 42,100,641 I147T probably benign Het
Polh T A 17: 46,194,325 T122S probably damaging Het
Ptpn13 T C 5: 103,477,118 V96A possibly damaging Het
Ptpn6 C A 6: 124,728,785 C132F probably damaging Het
Rbm19 T A 5: 120,132,867 V585E probably damaging Het
Rp1l1 C T 14: 64,028,906 P647L probably benign Het
Rrp1b A G 17: 32,047,675 E72G probably damaging Het
Shcbp1 A T 8: 4,748,742 H392Q probably benign Het
Skiv2l C T 17: 34,846,117 R371Q possibly damaging Het
Slc13a5 G A 11: 72,253,391 T287I possibly damaging Het
Slc22a27 T A 19: 7,926,757 E5V probably benign Het
Slc38a2 A G 15: 96,692,584 V293A probably damaging Het
Slco6d1 T A 1: 98,463,836 probably benign Het
Sri G C 5: 8,059,353 D46H probably damaging Het
Tango6 A G 8: 106,689,168 D207G possibly damaging Het
Tigd4 T C 3: 84,594,442 M222T probably benign Het
Tmem229a T C 6: 24,955,173 D194G probably benign Het
Trank1 T C 9: 111,366,685 V1259A possibly damaging Het
Trdv5 T C 14: 54,148,798 D70G probably benign Het
Trim52 T A 14: 106,106,941 M11K probably damaging Het
Wdr62 A G 7: 30,241,347 M882T probably benign Het
Ybx3 A G 6: 131,367,763 probably null Het
Zfand2b A G 1: 75,170,510 probably benign Het
Zfp91 T A 19: 12,770,320 T480S possibly damaging 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
R1434:Fam172a UTSW 13 77761922 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
R7230:Fam172a UTSW 13 77759472 missense probably damaging 1.00
R7449:Fam172a UTSW 13 77759442 missense probably damaging 1.00
R7867:Fam172a UTSW 13 77902718 missense probably benign
R7950:Fam172a UTSW 13 77902718 missense probably benign
RF003:Fam172a UTSW 13 77834675 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AATGTTCTCTAACCATCTAACCAGC -3'
(R):5'- ACAGGAACCTCAGACTGAGC -3'

Sequencing Primer
(F):5'- ACCATCTAACCAGCTTATTCTTATGC -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
Posted On2017-02-10