Mutagenetix > Incidental Mutation

Incidental Mutation 'R4435:Fam169a'

329499

Institutional Source

Beutler Lab

Gene Symbol

Fam169a

Ensembl Gene

ENSMUSG00000041817

Gene Name

family with sequence similarity 169, member A

Synonyms

MMRRC Submission

041149-MU

Accession Numbers

Essential gene?

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

Stock #

R4435 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97067286-97131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97126740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 567 (D567G)

Ref Sequence

ENSEMBL: ENSMUSP00000126209 (fasta)

Gene Model

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

AlphaFold

Q5XG69

Predicted Effect

probably damaging
Transcript: ENSMUST00000042517
AA Change: D567G

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

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: D567G

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 damaging
Transcript: ENSMUST00000169863
AA Change: D567G

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

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: D567G

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	C	12: 113,490,661	Q366P	probably damaging	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Ank3	C	T	10: 69,987,070	S523L	probably damaging	Het
Arap1	C	A	7: 101,390,254	R574S	possibly damaging	Het
Arhgap25	T	C	6: 87,462,938	I576V	possibly damaging	Het
Ascc3	T	A	10: 50,721,885	V1283D	probably benign	Het
Asnsd1	A	T	1: 53,348,073		probably null	Het
Asrgl1	C	T	19: 9,119,199	V125I	probably damaging	Het
Bccip	A	G	7: 133,719,213	R239G	probably benign	Het
Cdyl	T	C	13: 35,858,250		probably null	Het
Cyfip1	T	C	7: 55,900,041	I650T	probably damaging	Het
Dennd4c	C	A	4: 86,798,075	Q506K	probably benign	Het
Fam135b	T	C	15: 71,448,739	D1313G	probably damaging	Het
Gm5134	T	G	10: 75,995,824	S366A	probably damaging	Het
Gm5849	T	A	3: 90,777,875	K1M	probably null	Het
Gpn3	A	G	5: 122,382,052	D223G	probably benign	Het
Hk1	A	G	10: 62,275,844	Y713H	probably damaging	Het
Ifih1	A	G	2: 62,645,890	L14P	probably damaging	Het
Kmt2c	A	T	5: 25,314,877	N2078K	possibly damaging	Het
Maf	T	A	8: 115,706,853	E4V	unknown	Het
Mbtd1	T	A	11: 93,932,222	D489E	probably benign	Het
Myrip	C	T	9: 120,335,614		probably benign	Het
Nedd4l	A	G	18: 65,212,825	D816G	possibly damaging	Het
Nwd1	T	C	8: 72,688,136	V934A	possibly damaging	Het
Olfr290	A	G	7: 84,916,021	M81V	probably benign	Het
Olfr446	T	A	6: 42,928,089	I286N	probably damaging	Het
Psd	A	T	19: 46,314,494	I158N	probably damaging	Het
Ptprq	A	G	10: 107,685,055	V752A	possibly damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Senp2	T	A	16: 22,014,241	V93E	possibly damaging	Het
Siah1b	G	A	X: 164,071,692	P131S	probably damaging	Het
Slc38a4	T	C	15: 97,009,018	S280G	probably benign	Het
Sos2	T	C	12: 69,614,699	E666G	possibly damaging	Het
Strip2	T	C	6: 29,925,050	V129A	probably benign	Het
Tsc2	G	A	17: 24,599,713	P1450L	probably benign	Het
Ttn	T	C	2: 76,916,875	E4610G	probably benign	Het
Uimc1	T	C	13: 55,075,823	E212G	probably damaging	Het
Zc3h18	T	C	8: 122,413,952		probably null	Het
Zswim3	T	A	2: 164,820,643	C348S	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCCATCTGATGATAAAGGAC -3'
(R):5'- AGCTGCTATCCACAGCTTTC -3'

Sequencing Primer
(F):5'- CCCATCTGATGATAAAGGACATACTG -3'
(R):5'- TCTCTGCTGACTGTGTAAACTG -3'

Posted On

2015-07-21