Mutagenetix > Incidental Mutation

Incidental Mutation 'R9479:Fam169a'

716140

Institutional Source

Beutler Lab

Gene Symbol

Fam169a

Ensembl Gene

ENSMUSG00000041817

Gene Name

family with sequence similarity 169, member A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97067286-97131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97114187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 342 (D342G)

Ref Sequence

ENSEMBL: ENSMUSP00000043738 (fasta)

Gene Model

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

AlphaFold

Q5XG69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042517
AA Change: D342G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: D342G

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

possibly damaging
Transcript: ENSMUST00000169863
AA Change: D342G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: D342G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	A	G	1: 58,138,409	Y261C	probably benign	Het
Arhgef10	T	C	8: 14,997,632	V1165A	probably damaging	Het
Arih2	C	G	9: 108,611,739	R260P	probably damaging	Het
Bhmt2	G	A	13: 93,663,325	A201V	probably damaging	Het
Ccdc115	A	T	1: 34,437,814	S115T	possibly damaging	Het
Clca4b	A	G	3: 144,911,339	V850A	probably benign	Het
Commd8	A	T	5: 72,161,007	H144Q	probably benign	Het
Creb3l1	C	T	2: 91,991,886		probably null	Het
Csnka2ip	T	C	16: 64,477,899	K701E	unknown	Het
Cyb5d2	A	G	11: 72,778,876	C219R		Het
Ep400	T	C	5: 110,729,864	T835A	unknown	Het
Fbxw21	A	T	9: 109,139,544	C455S	probably benign	Het
Fbxw26	A	G	9: 109,732,557	S190P	probably damaging	Het
Gabra5	A	G	7: 57,408,692	I436T		Het
Gm9767	G	A	10: 26,079,018	G156D		Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Gsn	T	C	2: 35,296,215		probably null	Het
Hao1	A	G	2: 134,554,284	S17P	probably benign	Het
Hspa1l	A	G	17: 34,977,759	N258S	probably benign	Het
Isyna1	C	T	8: 70,595,543	R200C	probably damaging	Het
Itgb2	A	T	10: 77,561,108	K659M	probably benign	Het
Klf11	T	C	12: 24,655,030	M161T	probably benign	Het
Ktn1	A	T	14: 47,724,717	K1114N	probably damaging	Het
Lonrf1	G	A	8: 36,230,514	R439*	probably null	Het
Lrrc26	C	T	2: 25,290,559	P191S	probably benign	Het
Ogdh	T	C	11: 6,347,854	I576T	possibly damaging	Het
Olfr115	A	G	17: 37,609,827	F308S	probably damaging	Het
Olfr1181	T	C	2: 88,423,333	R231G	probably damaging	Het
Olfr120	T	C	17: 37,726,095	S24P	probably damaging	Het
Olfr1286	A	T	2: 111,420,668	F94L	probably damaging	Het
Olfr297	T	C	7: 86,527,077	C107R	possibly damaging	Het
Olfr835	G	A	9: 19,035,434	V104I	probably benign	Het
Pcnt	A	G	10: 76,382,129	V2104A	probably benign	Het
Pds5a	G	A	5: 65,635,404	R729W	probably damaging	Het
Pgap1	G	A	1: 54,543,116	Q191*	probably null	Het
Pglyrp3	A	G	3: 92,028,003	I187V	probably benign	Het
Pkdrej	T	A	15: 85,815,370	I2122F	possibly damaging	Het
Pold1	G	A	7: 44,541,655	R251W	probably damaging	Het
Prr22	A	G	17: 56,771,335	M163V	probably benign	Het
Ptprc	A	T	1: 138,073,650	N814K	probably benign	Het
Rapgef2	G	A	3: 79,112,188	L59F	probably damaging	Het
Rbm22	T	C	18: 60,566,420	L147P	probably damaging	Het
Rgsl1	G	A	1: 153,781,699	S391F	unknown	Het
Rnf13	A	T	3: 57,820,562	D221V	possibly damaging	Het
Senp2	T	A	16: 22,023,648	L154Q	probably damaging	Het
Srfbp1	A	G	18: 52,488,260	Q131R	possibly damaging	Het
Tmprss11a	A	T	5: 86,414,543	Y314*	probably null	Het
Ttn	G	T	2: 76,835,942	P11590Q	unknown	Het
Txnrd3	C	T	6: 89,663,102	T266M	possibly damaging	Het
Zfp810	T	C	9: 22,283,201	S64G	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCCACGCTGCAGATCTAG -3'
(R):5'- ATGGGTCATCTTGTAGCAGAAG -3'

Sequencing Primer
(F):5'- ACGCTGCAGATCTAGCATTG -3'
(R):5'- TTGCAAGGATACCTGCCG -3'

Posted On

2022-07-18