Mutagenetix > Incidental Mutation

Incidental Mutation 'R3805:Fam169a'

274566

Institutional Source

Beutler Lab

Gene Symbol

Fam169a

Ensembl Gene

ENSMUSG00000041817

Gene Name

family with sequence similarity 169, member A

Synonyms

MMRRC Submission

040762-MU

Accession Numbers

Essential gene?

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

Stock #

R3805 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97067286-97131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97097684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 155 (V155I)

Ref Sequence

ENSEMBL: ENSMUSP00000126209 (fasta)

Gene Model

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

AlphaFold

Q5XG69

Predicted Effect

probably benign
Transcript: ENSMUST00000042517
AA Change: V155I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: V155I

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
AA Change: V155I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: V155I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aebp2	GCGGCC	GCGGCCGGCC	6: 140,643,949		probably null	Het
Ano5	T	C	7: 51,576,650	F584L	probably benign	Het
Ap1b1	T	A	11: 5,033,225		probably null	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Ccdc138	T	C	10: 58,561,997	I553T	possibly damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Ctu1	T	C	7: 43,676,673	L252P	probably damaging	Het
Dhrs2	A	T	14: 55,234,748	N32I	probably benign	Het
Dnah1	A	T	14: 31,294,763	M1599K	possibly damaging	Het
Eri2	A	T	7: 119,786,008	C423*	probably null	Het
Get4	G	T	5: 139,252,531	V23F	probably damaging	Het
Hdac3	A	G	18: 37,945,692		probably null	Het
Herc3	C	A	6: 58,916,850	H970Q	probably damaging	Het
Htt	A	G	5: 34,877,204		probably null	Het
Ifit1	A	G	19: 34,648,156	I231V	probably damaging	Het
Lingo4	A	G	3: 94,402,100	D115G	probably damaging	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Map7d1	A	T	4: 126,237,291		probably null	Het
Morf4l1	A	G	9: 90,095,143	S203P	probably benign	Het
Naaladl1	A	G	19: 6,114,865	T628A	probably benign	Het
Nlrp9a	T	A	7: 26,564,852	C643*	probably null	Het
Olfr1187-ps1	A	T	2: 88,540,356		noncoding transcript	Het
Olfr1270	T	G	2: 90,148,461		probably benign	Het
Oxtr	T	C	6: 112,477,186	K39R	probably benign	Het
Ppp4r4	T	A	12: 103,600,366	M24K	probably damaging	Het
Ppp6r2	T	C	15: 89,265,639	F256L	probably benign	Het
Robo4	A	T	9: 37,404,438	D329V	possibly damaging	Het
Rsph10b	G	A	5: 143,958,388		probably null	Het
Slc9b2	T	C	3: 135,324,588	L222P	probably damaging	Het
Speer4a	C	T	5: 26,035,084	E223K	possibly damaging	Het
St18	T	A	1: 6,802,353	L104H	probably damaging	Het
Tmem184c	C	A	8: 77,596,875	D453Y	unknown	Het
Trpv1	A	T	11: 73,253,053	N237I	probably damaging	Het
Vmn2r77	T	A	7: 86,795,160	L7*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCTAGCTGCATATTGTAACTGCTG -3'
(R):5'- CACGCTTCAGTAGGCTTTTC -3'

Sequencing Primer
(F):5'- AACTGCTGTGCCTGCTG -3'
(R):5'- TCCTCTCTCACAGGACAGTAGG -3'

Posted On

2015-04-02