Mutagenetix > Incidental Mutation

Incidental Mutation 'R5370:Fam169a'

429613

Institutional Source

Beutler Lab

Gene Symbol

Fam169a

Ensembl Gene

ENSMUSG00000041817

Gene Name

family with sequence similarity 169, member A

Synonyms

MMRRC Submission

042947-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97067286-97131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97106962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 167 (C167S)

Ref Sequence

ENSEMBL: ENSMUSP00000126209 (fasta)

Gene Model

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

AlphaFold

Q5XG69

Predicted Effect

probably damaging
Transcript: ENSMUST00000042517
AA Change: C167S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: C167S

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 damaging
Transcript: ENSMUST00000169863
AA Change: C167S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: C167S

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	C	T	5: 24,400,139	R108C	possibly damaging	Het
Armc3	A	C	2: 19,286,062	T451P	probably benign	Het
Ass1	G	A	2: 31,518,733	V379M	possibly damaging	Het
Cdhr2	A	G	13: 54,720,887	Y554C	probably damaging	Het
Clec4g	C	A	8: 3,718,344	R129L	probably benign	Het
Dip2b	C	T	15: 100,211,986	R1451C	probably damaging	Het
Dnah9	T	A	11: 66,029,354	T2238S	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Ephb2	T	C	4: 136,771,570	E66G	probably benign	Het
Ggcx	T	C	6: 72,425,931	S291P	possibly damaging	Het
Gsdme	T	A	6: 50,229,306	I186F	probably damaging	Het
Gzma	T	A	13: 113,095,795	M191L	probably damaging	Het
Heatr1	T	A	13: 12,401,522	S226T	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hs6st1	T	A	1: 36,069,081	S142T	probably damaging	Het
Ighv3-5	A	G	12: 114,262,898	V36A	probably benign	Het
Leng8	A	G	7: 4,145,434	D735G	possibly damaging	Het
Mapk13	T	A	17: 28,776,352	Y182*	probably null	Het
Mrgprb8	A	T	7: 48,388,820	T80S	probably benign	Het
Myom2	G	A	8: 15,099,343	A605T	probably benign	Het
Nxf1	A	G	19: 8,772,140	T134A	probably damaging	Het
Olfr136	G	T	17: 38,335,444	G96*	probably null	Het
Padi3	C	A	4: 140,810,538	E24*	probably null	Het
Pcdhga3	T	A	18: 37,675,290	D265E	probably damaging	Het
Pros1	A	T	16: 62,913,976	I382L	probably benign	Het
Ptpn23	A	G	9: 110,385,701	V1544A	possibly damaging	Het
Rhoh	G	T	5: 65,892,578	A64S	probably benign	Het
Rnf115	A	G	3: 96,758,020	T69A	probably benign	Het
Taf5	A	G	19: 47,075,764	E382G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn2r104	A	T	17: 20,030,188	I607N	probably damaging	Het
Vmn2r11	T	C	5: 109,047,555	Y635C	probably damaging	Het
Vwa5a	A	G	9: 38,741,216	D765G	probably benign	Het
Wnk2	T	C	13: 49,102,961	D228G	probably damaging	Het
Xirp2	A	G	2: 67,512,152	D1579G	possibly 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
IGL02739:Fam169a	APN	13	97094055	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTACTTGTCCTATATTACTGTTGGC -3'
(R):5'- TCACCTGTGTACATGAGAGAAG -3'

Sequencing Primer
(F):5'- CTGTTGGCAAACATAAAATAACAGC -3'
(R):5'- CCTGTGTACATGAGAGAAGACAGTG -3'

Posted On

2016-09-06