Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01089:Fam171a2'

52264

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: 0.110) question?

Stock #

IGL01089

Quality Score

Status

Chromosome

Chromosomal Location

102436981-102447682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102437848 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 695 (A695V)

Ref Sequence

ENSEMBL: ENSMUSP00000038486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819] [ENSMUST00000129997]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049057
AA Change: A695V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: A695V

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

probably benign
Transcript: ENSMUST00000129997

SMART Domains

Protein: ENSMUSP00000135739
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
GRAN	61	112	1.32e-22	SMART
GRAN	125	177	7.38e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148580

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,003,337	E180G	possibly damaging	Het
Actr8	T	C	14: 29,988,335	L353S	probably damaging	Het
Adgrf2	G	A	17: 42,710,158	P592S	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Afap1l2	A	C	19: 56,913,411		probably null	Het
Asnsd1	G	A	1: 53,348,277	P64S	probably damaging	Het
Bmt2	A	G	6: 13,663,271	M76T	probably damaging	Het
Clca3b	A	T	3: 144,823,522	V797D	probably benign	Het
Cog2	T	C	8: 124,545,243	S499P	probably benign	Het
Cyp27a1	A	T	1: 74,731,938	Y94F	possibly damaging	Het
D430042O09Rik	A	G	7: 125,795,313	E187G	probably damaging	Het
D630045J12Rik	A	G	6: 38,136,963	S1765P	probably benign	Het
Fam149a	A	G	8: 45,348,527	L519P	possibly damaging	Het
Fat1	T	A	8: 45,017,857	V1566E	probably damaging	Het
Flvcr1	T	G	1: 191,013,390	N361H	probably damaging	Het
Gm1110	T	C	9: 26,881,860	N540S	probably benign	Het
Kcns3	T	A	12: 11,091,571	T376S	possibly damaging	Het
Krt32	A	G	11: 100,087,779	S150P	probably benign	Het
Lrtm2	C	T	6: 119,320,792	R96Q	possibly damaging	Het
Mctp1	A	G	13: 77,020,798	E838G	probably damaging	Het
Mios	T	C	6: 8,234,363		probably null	Het
Olfr338	A	T	2: 36,377,166	Y130F	probably damaging	Het
Phldb1	T	A	9: 44,707,887	K167*	probably null	Het
Pkhd1l1	A	G	15: 44,483,869		probably benign	Het
Plaa	A	G	4: 94,574,047	V531A	probably benign	Het
Psmb2	A	G	4: 126,684,206	Y59C	probably damaging	Het
Ptprg	A	G	14: 12,215,286	H1091R	probably damaging	Het
Rbm44	T	A	1: 91,168,697	V926D	possibly damaging	Het
Rgma	G	T	7: 73,409,714	V189L	possibly damaging	Het
Sbf2	A	T	7: 110,348,962	I1227K	probably damaging	Het
Slc8a1	T	C	17: 81,648,281	T443A	probably damaging	Het
Slc8a1	A	G	17: 81,388,881	V896A	probably damaging	Het
Taf2	T	C	15: 55,016,581	M1120V	probably benign	Het
Ugt2b34	C	T	5: 86,906,326	V199I	probably benign	Het
Unc5c	C	A	3: 141,818,202		probably benign	Het
Usp37	G	A	1: 74,493,046	R63*	probably null	Het

Other mutations in Fam171a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Fam171a2	APN	11	102439756	missense	possibly damaging	0.88
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

2013-06-21