Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Fam171a2'

295014

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: 0.146) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

102436981-102447682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102440028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 208 (I208M)

Ref Sequence

ENSEMBL: ENSMUSP00000038486 (fasta)

Gene Model

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

AlphaFold

A2A699

Predicted Effect

probably benign
Transcript: ENSMUST00000049057
AA Change: I208M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: I208M

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: 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,865,770	M789K	probably benign	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	Het

Other mutations in Fam171a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Fam171a2	APN	11	102437848	missense	possibly damaging	0.92
IGL01898:Fam171a2	APN	11	102439756	missense	possibly damaging	0.88
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
R8924:Fam171a2	UTSW	11	102440035	missense	possibly damaging	0.94
R8976:Fam171a2	UTSW	11	102438625	missense	possibly damaging	0.46
R9116:Fam171a2	UTSW	11	102439693	missense	probably damaging	0.98
R9155:Fam171a2	UTSW	11	102438671	missense	probably benign	0.28
R9346:Fam171a2	UTSW	11	102437945	missense	possibly damaging	0.87
Z1176:Fam171a2	UTSW	11	102447446	missense	unknown

Posted On

2015-04-16