Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02739:Fam169a'

305825

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam169a

Ensembl Gene

ENSMUSG00000041817

Gene Name

family with sequence similarity 169, member A

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

97067286-97131013 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 97094055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000071118] [ENSMUST00000169863]

AlphaFold

Q5XG69

Predicted Effect

probably benign
Transcript: ENSMUST00000042517

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071118

SMART Domains

Protein: ENSMUSP00000132645
Gene: ENSMUSG00000057762

Domain	Start	End	E-Value	Type
Pfam:MARVEL	19	132	2.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169863

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,570,156	E352*	probably null	Het
Bglap2	A	T	3: 88,378,012		probably null	Het
Bsn	A	T	9: 108,112,546	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780		probably null	Het
Ctsr	T	C	13: 61,161,844	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519	L11P	unknown	Het
Dock8	A	G	19: 25,188,488	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728	Y106H	probably damaging	Het
Epas1	A	G	17: 86,805,282	T103A	probably damaging	Het
Epcam	A	T	17: 87,640,494	T131S	probably benign	Het
Gh	T	A	11: 106,301,733		probably benign	Het
Kif20a	A	T	18: 34,628,943	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307		probably null	Het
Nr2c1	T	A	10: 94,156,972	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509		probably null	Het
Ppp1r42	T	A	1: 9,968,853	K347N	probably benign	Het
Prtg	T	C	9: 72,851,585	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,200,754	S194*	probably null	Het
Rnf214	T	C	9: 45,869,474	I406V	probably benign	Het
Rreb1	C	T	13: 37,893,821	S3L	probably damaging	Het
Sdad1	C	T	5: 92,290,072	A539T	probably benign	Het
Sema3a	A	G	5: 13,451,161	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398	T175A	probably damaging	Het
Tcf20	T	A	15: 82,856,080	Q390L	probably damaging	Het
Tex15	A	G	8: 33,581,693	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526	E83A	probably damaging	Het

Other mutations in Fam169a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Fam169a	APN	13	97122699	missense	probably benign	0.00
IGL01380:Fam169a	APN	13	97091951	missense	probably damaging	0.97
IGL01761:Fam169a	APN	13	97091918	missense	possibly damaging	0.92
IGL02628:Fam169a	APN	13	97111288	splice site	probably benign
IGL03171:Fam169a	APN	13	97110014	splice site	probably benign
IGL03306:Fam169a	APN	13	97106989	missense	possibly damaging	0.66
IGL03377:Fam169a	APN	13	97091873	missense	probably benign	0.04
IGL02980:Fam169a	UTSW	13	97113680	critical splice donor site	probably null
R0282:Fam169a	UTSW	13	97097715	splice site	probably benign
R1319:Fam169a	UTSW	13	97097562	missense	probably damaging	1.00
R1468:Fam169a	UTSW	13	97118530	missense	probably benign	0.01
R1468:Fam169a	UTSW	13	97118530	missense	probably benign	0.01
R2037:Fam169a	UTSW	13	97107092	missense	probably benign	0.37
R2380:Fam169a	UTSW	13	97118535	splice site	probably benign
R3805:Fam169a	UTSW	13	97097684	missense	probably benign	0.00
R4434:Fam169a	UTSW	13	97126740	missense	probably damaging	1.00
R4435:Fam169a	UTSW	13	97126740	missense	probably damaging	1.00
R4437:Fam169a	UTSW	13	97126740	missense	probably damaging	1.00
R4590:Fam169a	UTSW	13	97097585	missense	probably benign	0.02
R4896:Fam169a	UTSW	13	97097592	missense	probably damaging	1.00
R5004:Fam169a	UTSW	13	97097592	missense	probably damaging	1.00
R5276:Fam169a	UTSW	13	97118496	missense	probably benign	0.01
R5370:Fam169a	UTSW	13	97106962	missense	probably damaging	1.00
R5687:Fam169a	UTSW	13	97093618	missense	probably damaging	1.00
R6151:Fam169a	UTSW	13	97093630	missense	probably damaging	1.00
R7711:Fam169a	UTSW	13	97126688	nonsense	probably null
R8322:Fam169a	UTSW	13	97122752	missense	probably benign	0.00
R8493:Fam169a	UTSW	13	97122859	missense	probably benign	0.00
R8698:Fam169a	UTSW	13	97107070	missense	probably damaging	1.00
R8794:Fam169a	UTSW	13	97114120	missense	possibly damaging	0.85
R9231:Fam169a	UTSW	13	97118459	missense	probably benign	0.08
R9479:Fam169a	UTSW	13	97110035	missense	possibly damaging	0.68
R9479:Fam169a	UTSW	13	97114187	missense	possibly damaging	0.94

Posted On

2015-04-16