Mutagenetix > Incidental Mutations

Incidental Mutation 'R5878:Fam172a'

455670

Institutional Source

Beutler Lab

Gene Symbol

Fam172a

Ensembl Gene

ENSMUSG00000064138

Gene Name

family with sequence similarity 172, member A

Synonyms

pEN87, 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 Score

225

Status

Validated

Chromosome

Chromosomal Location

77702033-78166235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77952067 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2017-02-10