Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01898:Fam171a2'

179454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam171a2

Ensembl Gene

ENSMUSG00000034685

Gene Name

family with sequence similarity 171, member A2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL01898

Quality Score

Status

Chromosome

Chromosomal Location

102436981-102447682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102439756 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 267 (T267A)

Ref Sequence

ENSEMBL: ENSMUSP00000038486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049057
AA Change: T267A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: T267A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UPF0560	41	820	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049460

SMART Domains

Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
GRAN	74	125	1.32e-22	SMART
GRAN	138	190	7.38e-26	SMART
GRAN	220	272	5.76e-28	SMART
GRAN	295	346	1.19e-29	SMART
GRAN	377	427	1.84e-26	SMART
GRAN	455	506	7.1e-28	SMART
GRAN	530	581	1.48e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123500

Predicted Effect

probably benign
Transcript: ENSMUST00000125819

SMART Domains

Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	42	72	5.03e-4	SMART
GRAN	100	151	7.1e-28	SMART
GRAN	175	226	1.48e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176953

Predicted Effect

probably benign
Transcript: ENSMUST00000177428

SMART Domains

Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	1	49	8.68e-23	SMART
GRAN	77	128	7.1e-28	SMART
GRAN	152	180	3.98e-2	SMART
low complexity region	244	259	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	T	2: 154,552,713	D195V	probably damaging	Het
Aqp11	A	G	7: 97,726,663	W260R	probably benign	Het
Atp8a2	T	C	14: 60,023,513	T390A	probably damaging	Het
Atp8b4	T	C	2: 126,389,361	N431S	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Ccdc110	T	G	8: 45,942,124	S351A	possibly damaging	Het
Cntnap4	T	C	8: 112,856,307	F1006L	possibly damaging	Het
Ddr2	A	G	1: 169,998,156	F292L	possibly damaging	Het
F830104G03Rik	G	A	3: 56,890,216	Q97*	probably null	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Igkv5-45	T	A	6: 69,775,892	K69*	probably null	Het
Mios	T	C	6: 8,222,668	I534T	probably benign	Het
Nus1	A	G	10: 52,430,067	D185G	probably benign	Het
Proc	A	G	18: 32,133,145		probably null	Het
Psma3	T	A	12: 70,984,674	H36Q	probably benign	Het
Sh3rf3	G	T	10: 59,049,530	A412S	probably damaging	Het
Smgc	A	T	15: 91,844,524		probably null	Het
Spta1	T	A	1: 174,213,862	S1297R	probably benign	Het
Steap3	T	C	1: 120,241,574	D293G	probably benign	Het
Tbx18	A	T	9: 87,707,859	M342K	possibly damaging	Het
Trip11	T	C	12: 101,885,676	M425V	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Fam171a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Fam171a2	APN	11	102437848	missense	possibly damaging	0.92
IGL02477:Fam171a2	APN	11	102440028	missense	probably benign	0.00
IGL03272:Fam171a2	APN	11	102444118	missense	possibly damaging	0.58
R0102:Fam171a2	UTSW	11	102444113	missense	possibly damaging	0.88
R0102:Fam171a2	UTSW	11	102444113	missense	possibly damaging	0.88
R0632:Fam171a2	UTSW	11	102437881	missense	probably damaging	0.99
R0733:Fam171a2	UTSW	11	102439722	missense	possibly damaging	0.83
R1005:Fam171a2	UTSW	11	102440181	missense	probably benign	0.05
R1323:Fam171a2	UTSW	11	102444125	missense	probably damaging	0.99
R1323:Fam171a2	UTSW	11	102444125	missense	probably damaging	0.99
R2425:Fam171a2	UTSW	11	102438361	missense	possibly damaging	0.88
R4838:Fam171a2	UTSW	11	102438685	missense	possibly damaging	0.88
R4858:Fam171a2	UTSW	11	102440156	missense	probably damaging	1.00
R5119:Fam171a2	UTSW	11	102438733	missense	probably damaging	0.97
R5384:Fam171a2	UTSW	11	102437867	missense	possibly damaging	0.51
R5386:Fam171a2	UTSW	11	102437867	missense	possibly damaging	0.51
R5408:Fam171a2	UTSW	11	102437518	missense	possibly damaging	0.71
R5457:Fam171a2	UTSW	11	102437536	missense	possibly damaging	0.92
R5732:Fam171a2	UTSW	11	102439981	missense	possibly damaging	0.94
R6466:Fam171a2	UTSW	11	102439885	missense	probably damaging	1.00
R6931:Fam171a2	UTSW	11	102438434	missense	possibly damaging	0.95
R7196:Fam171a2	UTSW	11	102438346	missense	probably benign	0.04
R7261:Fam171a2	UTSW	11	102438074	missense	probably damaging	0.98
R7295:Fam171a2	UTSW	11	102438238	missense	possibly damaging	0.85
R7419:Fam171a2	UTSW	11	102438802	missense	possibly damaging	0.95
R7422:Fam171a2	UTSW	11	102438665	missense	probably benign	0.29
R7454:Fam171a2	UTSW	11	102439717	missense	possibly damaging	0.88
R7606:Fam171a2	UTSW	11	102444176	missense	possibly damaging	0.75
R7690:Fam171a2	UTSW	11	102437834	missense	probably benign	0.04
R7754:Fam171a2	UTSW	11	102438563	missense	probably benign	0.00
R7970:Fam171a2	UTSW	11	102437866	missense	possibly damaging	0.93
R8060:Fam171a2	UTSW	11	102438610	missense	possibly damaging	0.88
R8338:Fam171a2	UTSW	11	102438346	missense	probably benign	0.10
Z1176:Fam171a2	UTSW	11	102447446	missense	unknown

Posted On

2014-05-07