Mutagenetix > Incidental Mutation

Incidental Mutation 'R1224:Tmem269'

152828

Institutional Source

Beutler Lab

Gene Symbol

Tmem269

Ensembl Gene

ENSMUSG00000028642

Gene Name

transmembrane protein 269

Synonyms

4930538K18Rik

MMRRC Submission

039293-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R1224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119062252-119075414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119074323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 18 (K18R)

Ref Sequence

ENSEMBL: ENSMUSP00000148286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030394] [ENSMUST00000141112] [ENSMUST00000212054]

AlphaFold

Q9D4Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000030394

SMART Domains

Protein: ENSMUSP00000030394
Gene: ENSMUSG00000028642

Domain	Start	End	E-Value	Type
transmembrane domain	44	62	N/A	INTRINSIC
transmembrane domain	69	88	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
transmembrane domain	169	191	N/A	INTRINSIC
transmembrane domain	211	233	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132778

Predicted Effect

probably benign
Transcript: ENSMUST00000141112

SMART Domains

Protein: ENSMUSP00000115729
Gene: ENSMUSG00000078584

Domain	Start	End	E-Value	Type
Pfam:DUF2452	27	182	2.2e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212054
AA Change: K18R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,931,408 (GRCm39)	E1248D	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Aldh16a1	T	C	7: 44,791,471 (GRCm39)		probably null	Het
Aldh9a1	T	A	1: 167,180,227 (GRCm39)	I107N	probably damaging	Het
Atp6ap1l	G	A	13: 91,034,675 (GRCm39)	Q236*	probably null	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cd46	A	T	1: 194,744,706 (GRCm39)	I344K	possibly damaging	Het
Ces3a	A	T	8: 105,778,141 (GRCm39)	D204V	probably damaging	Het
Clstn3	T	C	6: 124,434,878 (GRCm39)	S346G	probably benign	Het
Cplane1	T	A	15: 8,207,869 (GRCm39)	C207S	probably benign	Het
Dock1	A	G	7: 134,710,548 (GRCm39)	D1190G	possibly damaging	Het
Gimap8	G	A	6: 48,627,629 (GRCm39)	S201N	probably benign	Het
Gm10153	A	G	7: 141,744,072 (GRCm39)	S19P	unknown	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Kcng3	A	G	17: 83,938,824 (GRCm39)	L75P	probably damaging	Het
Krt31	C	T	11: 99,940,690 (GRCm39)		probably null	Het
Ly6a	A	G	15: 74,868,327 (GRCm39)	V54A	possibly damaging	Het
Map3k7cl	T	A	16: 87,352,891 (GRCm39)	D21E	probably benign	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Rapsn	T	C	2: 90,873,543 (GRCm39)	L230P	probably damaging	Het
Rhog	C	A	7: 101,888,959 (GRCm39)	V165F	possibly damaging	Het
Slc44a4	T	C	17: 35,140,844 (GRCm39)	V313A	probably benign	Het
Sox14	G	C	9: 99,757,168 (GRCm39)	H190Q	probably damaging	Het
Sval2	G	A	6: 41,841,188 (GRCm39)	D103N	probably benign	Het
Tm9sf3	A	T	19: 41,211,634 (GRCm39)	V403D	probably damaging	Het
Unc80	T	C	1: 66,511,139 (GRCm39)	F49S	probably damaging	Het
Zdhhc7	T	A	8: 120,809,311 (GRCm39)	T299S	probably benign	Het
Zfp52	T	C	17: 21,775,324 (GRCm39)	V6A	possibly damaging	Het

Other mutations in Tmem269

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Tmem269	APN	4	119,066,511 (GRCm39)	missense	probably benign	0.03
IGL02002:Tmem269	APN	4	119,071,338 (GRCm39)	missense	probably benign
R1802:Tmem269	UTSW	4	119,068,070 (GRCm39)	critical splice donor site	probably null
R4097:Tmem269	UTSW	4	119,062,977 (GRCm39)	missense	probably damaging	0.98
R5721:Tmem269	UTSW	4	119,067,146 (GRCm39)	missense	probably benign	0.00
R7053:Tmem269	UTSW	4	119,066,464 (GRCm39)	missense	probably damaging	0.98
R8844:Tmem269	UTSW	4	119,062,876 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCTACAGCAGACACGGGTTAG -3'
(R):5'- TCCGAAGTTGGCACATGGATCTTG -3'

Sequencing Primer
(F):5'- TGATCTCTCAACGAATAGTCAGGC -3'
(R):5'- TGGCACATGGATCTTGTTCTAC -3'

Posted On

2014-01-29