Incidental Mutation 'R0107:Fam172a'
ID33345
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 038393-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.264) question?
Stock #R0107 (G1)
Quality Score225
Status Validated (trace)
Chromosome13
Chromosomal Location77702033-78166235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77902814 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000153070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000224217] [ENSMUST00000224908] [ENSMUST00000225623]
Predicted Effect possibly damaging
Transcript: ENSMUST00000091459
AA Change: D197G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
AA Change: D197G

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: D133G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
AA Change: D133G

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: D243G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
AA Change: D243G

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: D81G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000225623
AA Change: D145G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.1837 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,080,834 V825A probably benign Het
Adamts7 T C 9: 90,180,720 I409T possibly damaging Het
Adck1 T C 12: 88,446,656 W253R possibly damaging Het
Afg3l2 A G 18: 67,431,766 F213L probably damaging Het
Ankle2 T C 5: 110,253,027 V743A probably benign Het
Ankrd34c C T 9: 89,729,484 R268H probably benign Het
Bcl2 G A 1: 106,712,562 R107C probably damaging Het
Ccdc7b T G 8: 129,178,197 probably benign Het
Cd320 A T 17: 33,848,085 M169L probably benign Het
Chn1 A G 2: 73,614,684 Y338H probably damaging Het
Chuk T A 19: 44,096,919 S263C probably damaging Het
Dennd4b C A 3: 90,272,736 P663T possibly damaging Het
Dnajc24 T G 2: 106,001,914 probably benign Het
Fbn2 A G 18: 58,056,203 V1617A probably benign Het
Fermt2 T C 14: 45,464,822 N502D probably damaging Het
Frrs1 A T 3: 116,896,716 I3F probably damaging Het
Fut1 C A 7: 45,618,846 Q20K possibly damaging Het
Gbf1 T C 19: 46,284,828 V1709A probably benign Het
Gfra3 G T 18: 34,711,306 H60Q probably benign Het
Gm10750 T A 2: 149,016,053 M93L unknown Het
Gm5538 T A 3: 59,752,316 L397I possibly damaging Het
Hmcn1 T A 1: 150,587,015 I5124L probably benign Het
Hps3 A C 3: 20,030,796 L76R probably damaging Het
Ifrd1 T A 12: 40,214,081 Q105L probably damaging Het
Irs2 A T 8: 11,004,691 V1247E probably damaging Het
Itgal T C 7: 127,328,559 probably benign Het
Ivns1abp A T 1: 151,361,570 N495I probably damaging Het
Kank1 T A 19: 25,430,366 probably benign Het
Mroh8 T C 2: 157,225,468 Q657R probably benign Het
Mthfd1l T C 10: 4,041,838 Y597H probably benign Het
Myom1 G A 17: 71,077,365 V692I probably damaging Het
Olfr347 T G 2: 36,734,718 Y132* probably null Het
Olfr45 A T 7: 140,691,345 M147L probably benign Het
Olfr835 A G 9: 19,035,333 D70G probably damaging Het
Palmd A T 3: 116,924,076 H257Q probably damaging Het
Pcnx2 A T 8: 125,753,586 V1994D probably benign Het
Phkb G A 8: 86,016,931 G553S probably benign Het
Plekha5 G A 6: 140,591,747 R646K possibly damaging Het
Ptprn A T 1: 75,255,712 L453M probably damaging Het
Ptprz1 T A 6: 23,000,570 D886E probably damaging Het
Rcn1 T A 2: 105,394,781 I110F possibly damaging Het
Scn1a T A 2: 66,324,633 T661S probably benign Het
Slc6a19 A G 13: 73,684,057 Y467H possibly damaging Het
Slc9c1 T A 16: 45,575,420 D611E probably benign Het
Slitrk6 T C 14: 110,751,963 E104G possibly damaging Het
Spag17 A T 3: 100,050,787 K920N possibly damaging Het
St3gal5 A G 6: 72,142,149 S82G probably benign Het
Tlk1 T C 2: 70,713,989 *767W probably null Het
Tln2 A G 9: 67,370,706 V342A probably damaging Het
Tmem104 T A 11: 115,202,180 M132K probably damaging Het
Tmem184c A G 8: 77,597,073 S387P possibly damaging Het
Tmtc1 A G 6: 148,425,913 V34A possibly damaging Het
Trim46 A G 3: 89,236,333 F596S probably damaging Het
Unc79 T A 12: 103,134,525 D1870E possibly damaging Het
Utp20 T C 10: 88,778,391 T1234A probably benign Het
Vmn1r31 T A 6: 58,472,743 T46S probably benign Het
Vps13a A T 19: 16,691,824 L1341Q probably benign Het
Wdr72 A T 9: 74,210,433 D821V probably damaging Het
Zfhx4 T C 3: 5,398,982 L1400P probably damaging Het
Zfp217 T A 2: 170,114,874 K735* probably null Het
Zfp235 A G 7: 24,137,116 Q29R probably damaging Het
Zfp628 A G 7: 4,920,168 Y463C probably damaging Het
Zkscan4 A G 13: 21,484,581 T401A 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
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
R5878:Fam172a UTSW 13 77952067 missense probably damaging 1.00
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'- AGGGTATGGAGTCATCGTCCTGAAC -3'
(R):5'- TTCCTTGAAACAGCAAATGACACGC -3'

Sequencing Primer
(F):5'- GTCATCGTCCTGAACCCAAATG -3'
(R):5'- CCCAGGCAGACAGGTAATTATG -3'
Posted On2013-05-09