Mutagenetix > Incidental Mutation

Incidental Mutation 'R7711:Fam169a'

594636

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 #

R7711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97067286-97131013 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 97126688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 550 (E550*)

Ref Sequence

ENSEMBL: ENSMUSP00000043738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000073456] [ENSMUST00000169863] [ENSMUST00000225410]

AlphaFold

Q5XG69

Predicted Effect

probably null
Transcript: ENSMUST00000042517
AA Change: E550*

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: E550*

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: ENSMUST00000073456

SMART Domains

Protein: ENSMUSP00000073161
Gene: ENSMUSG00000060739

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S8e	1	259	1.3e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000169863
AA Change: E550*

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: E550*

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: ENSMUST00000225410

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,159,984	E342K	possibly damaging	Het
9430015G10Rik	T	G	4: 156,119,192	V34G	probably damaging	Het
Alkbh3	T	C	2: 94,008,092	S44G	probably benign	Het
Alpk2	A	T	18: 65,306,484	C613S	probably benign	Het
Aplp2	G	A	9: 31,161,349	R488C	probably damaging	Het
Arid1b	A	G	17: 5,336,820	N1463S	probably benign	Het
Atxn2l	A	T	7: 126,501,269	L125Q	probably damaging	Het
C130060K24Rik	A	G	6: 65,441,373	H23R		Het
Cd3d	A	G	9: 44,986,336	K172E	probably benign	Het
Chd7	T	A	4: 8,805,234	D764E	probably benign	Het
Col19a1	T	C	1: 24,530,008	I220V	unknown	Het
Cpq	T	C	15: 33,497,347	I411T	probably benign	Het
Crybg2	C	A	4: 134,065,533	H160N	probably benign	Het
Cryl1	A	T	14: 57,275,556	C285S	probably benign	Het
Dapk1	A	G	13: 60,761,551	D1326G	probably damaging	Het
Dgkh	A	G	14: 78,725,019	V24A	probably benign	Het
Dnajb4	A	C	3: 152,186,517	S226R	probably benign	Het
Dnm3	A	T	1: 161,992,053	I850N	possibly damaging	Het
Dtna	G	T	18: 23,625,196		probably null	Het
Efcab6	G	T	15: 83,949,924	D494E	probably benign	Het
Fbxw7	A	G	3: 84,925,681	N10S	probably benign	Het
Flrt2	T	C	12: 95,780,754	F622S	probably damaging	Het
Gm17359	A	G	3: 79,405,860	I80M	probably damaging	Het
Gm884	G	T	11: 103,614,912	Q2077K	probably benign	Het
Gm906	T	G	13: 50,247,095	R398S	probably benign	Het
Gprc5d	G	A	6: 135,116,357	T184I	possibly damaging	Het
Grem2	A	G	1: 174,837,127	V52A	probably damaging	Het
Gtf3c2	G	T	5: 31,170,189	T310N	probably damaging	Het
H2-Bl	T	A	17: 36,083,878	N51I	probably damaging	Het
Hyou1	A	G	9: 44,384,462	D338G	possibly damaging	Het
Ifna6	T	C	4: 88,827,734	S107P	probably benign	Het
Kif14	G	T	1: 136,471,453	G451C	probably benign	Het
Kit	T	A	5: 75,637,359	F436I	probably damaging	Het
Lonp2	G	A	8: 86,714,008	C751Y	probably damaging	Het
Lonrf1	C	A	8: 36,249,221	G87C	probably damaging	Het
Lrp2	T	C	2: 69,479,343		probably null	Het
Mkln1	A	G	6: 31,492,649	H598R	probably damaging	Het
Mmaa	T	C	8: 79,268,145	H344R	probably benign	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Myh7b	T	G	2: 155,620,403	L342R	probably damaging	Het
Olfr1120	A	G	2: 87,357,527	N28D	probably benign	Het
Olfr1291-ps1	T	A	2: 111,500,152	I300K	probably damaging	Het
Olfr18	A	T	9: 20,314,023	V299E	possibly damaging	Het
Olfr753-ps1	C	T	17: 37,169,956	G129R	probably damaging	Het
Pcsk5	T	A	19: 17,439,080	Y1668F	possibly damaging	Het
Pfn4	C	T	12: 4,774,414	T47I	possibly damaging	Het
Pklr	T	C	3: 89,141,342	L104P	probably damaging	Het
Plcxd2	A	G	16: 45,980,330	V177A	probably benign	Het
Pramef25	T	C	4: 143,949,252	S335G	probably benign	Het
Prdm10	G	T	9: 31,357,232	A826S	probably damaging	Het
Prrt4	A	G	6: 29,177,456	S105P	probably benign	Het
Prss51	T	A	14: 64,097,488	V164E	probably damaging	Het
Psap	T	C	10: 60,299,855	V360A	probably damaging	Het
Psg22	T	C	7: 18,718,342		probably null	Het
Rad51	A	G	2: 119,131,590	Q206R	probably benign	Het
Rap1gds1	T	C	3: 138,959,113	K277R	probably benign	Het
Rassf2	T	A	2: 132,005,377	T103S	probably benign	Het
Rbm15b	T	A	9: 106,885,943	H342L	possibly damaging	Het
Rsf1	G	GACCGCGGCC	7: 97,579,909		probably benign	Het
Scaf8	T	C	17: 3,187,634	F561L	probably damaging	Het
Scn1a	G	A	2: 66,303,660	A130V	probably benign	Het
Scn7a	T	C	2: 66,700,877	E552G	probably damaging	Het
Slc39a14	T	A	14: 70,313,675	R183W	probably damaging	Het
Slfn1	A	T	11: 83,121,263	K68N	possibly damaging	Het
Slx4ip	A	G	2: 137,067,994	D303G	probably damaging	Het
Snx17	T	A	5: 31,195,460	F101Y	probably damaging	Het
Specc1l	C	A	10: 75,230,808	N30K	probably benign	Het
Tbx19	A	G	1: 165,139,199	S369P	probably benign	Het
Usp17ld	T	C	7: 103,250,282	H481R	probably damaging	Het
Wnt2	A	G	6: 17,990,037	L287P	probably benign	Het
Zfhx4	G	T	3: 5,396,956	M1230I	probably damaging	Het
Zfp1	T	C	8: 111,670,162	C272R	not run	Het
Zfp458	A	G	13: 67,259,600	S64P	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
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'- ACCTCACCTGATACTGACTCAG -3'
(R):5'- AACTGTTCCAGGTGCTCAGAG -3'

Sequencing Primer
(F):5'- CACCTGATACTGACTCAGAAATGTTG -3'
(R):5'- TCAGAGGACGCTTCAGACTGTTC -3'

Posted On

2019-11-12