Mutagenetix > Incidental Mutation

Incidental Mutation 'R8675:Tmem268'

661334

Institutional Source

Beutler Lab

Gene Symbol

Tmem268

Ensembl Gene

ENSMUSG00000045917

Gene Name

transmembrane protein 268

Synonyms

6330416G13Rik

MMRRC Submission

068530-MU

Accession Numbers

Essential gene?

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

Stock #

R8675 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63477018-63504594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63502108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 312 (T312M)

Ref Sequence

ENSEMBL: ENSMUSP00000076891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077709] [ENSMUST00000080336]

AlphaFold

Q8R239

Predicted Effect

probably damaging
Transcript: ENSMUST00000077709
AA Change: T312M

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

SMART Domains

Protein: ENSMUSP00000076891
Gene: ENSMUSG00000045917
AA Change: T312M

Domain	Start	End	E-Value	Type
Pfam:DUF4481	39	328	4.2e-130	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080336
AA Change: T312M

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

SMART Domains

Protein: ENSMUSP00000079211
Gene: ENSMUSG00000045917
AA Change: T312M

Domain	Start	End	E-Value	Type
Pfam:DUF4481	38	328	4.4e-127	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Abl2	T	C	1: 156,452,909 (GRCm39)	V148A	probably damaging	Het
Cacng7	G	A	7: 3,385,221 (GRCm39)	V41I	probably benign	Het
Clrn3	A	G	7: 135,115,880 (GRCm39)	S157P	possibly damaging	Het
Dsg2	T	A	18: 20,734,975 (GRCm39)	N984K	possibly damaging	Het
Fam83e	A	G	7: 45,373,293 (GRCm39)	T220A	probably benign	Het
Frk	A	G	10: 34,484,493 (GRCm39)	T489A	probably benign	Het
Gigyf2	T	A	1: 87,331,438 (GRCm39)	H195Q	unknown	Het
Gm49380	C	T	9: 44,023,187 (GRCm39)	A354T	probably benign	Het
Igfbpl1	T	C	4: 45,813,469 (GRCm39)	T249A	possibly damaging	Het
Il17ra	T	A	6: 120,458,949 (GRCm39)	M700K	probably benign	Het
Il20	A	T	1: 130,835,172 (GRCm39)	W171R	probably damaging	Het
Mfsd4a	T	C	1: 131,986,926 (GRCm39)	Y134C	probably damaging	Het
Mis12	A	G	11: 70,916,500 (GRCm39)	S178G	probably benign	Het
Pcdh1	A	G	18: 38,332,229 (GRCm39)	V397A	probably damaging	Het
Pcsk4	T	C	10: 80,158,896 (GRCm39)	Y499C	probably damaging	Het
Pgbd1	A	G	13: 21,607,183 (GRCm39)	L337P	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pih1d1	A	G	7: 44,803,806 (GRCm39)	K22E	unknown	Het
Pkd1l1	A	G	11: 8,798,916 (GRCm39)		probably null	Het
Pld2	A	G	11: 70,445,713 (GRCm39)	D649G	probably null	Het
Ralgapa1	T	C	12: 55,785,002 (GRCm39)	T753A	possibly damaging	Het
Rapgef5	T	A	12: 117,547,782 (GRCm39)	L141M	probably damaging	Het
Rasgrp4	G	A	7: 28,842,452 (GRCm39)	G242D	probably damaging	Het
Rnf213	T	C	11: 119,346,984 (GRCm39)	S3682P		Het
Scnn1b	A	G	7: 121,498,474 (GRCm39)	K5E	probably damaging	Het
Smbd1	T	C	16: 32,625,340 (GRCm39)	*142W	probably null	Het
Snrnp200	A	G	2: 127,074,443 (GRCm39)	T1428A	possibly damaging	Het
Speer1b	C	T	5: 11,823,973 (GRCm39)	R174*	probably null	Het
Spire1	T	C	18: 67,624,378 (GRCm39)	T594A	possibly damaging	Het
Spta1	A	G	1: 174,058,249 (GRCm39)	T1906A	probably benign	Het
Stx16	T	C	2: 173,934,255 (GRCm39)	S152P	probably benign	Het
Tcp11	T	A	17: 28,288,565 (GRCm39)	Q331L	probably benign	Het
Tmem106a	T	A	11: 101,481,222 (GRCm39)	Y243*	probably null	Het
Ttc9	T	G	12: 81,707,379 (GRCm39)	V146G	probably damaging	Het
Ubr3	T	A	2: 69,850,865 (GRCm39)	I1758N	probably damaging	Het
Unc13a	G	A	8: 72,098,359 (GRCm39)	T1142I	probably benign	Het
Vipr1	T	C	9: 121,493,732 (GRCm39)	L261P	probably damaging	Het
Vmn1r222	A	T	13: 23,416,607 (GRCm39)	V202E	probably damaging	Het
Zfp78	A	G	7: 6,381,280 (GRCm39)	N110S	probably benign	Het

Other mutations in Tmem268

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Tmem268	APN	4	63,486,691 (GRCm39)	splice site	probably benign
R0140:Tmem268	UTSW	4	63,496,096 (GRCm39)	missense	possibly damaging	0.94
R1473:Tmem268	UTSW	4	63,498,575 (GRCm39)	missense	probably damaging	0.99
R1816:Tmem268	UTSW	4	63,483,947 (GRCm39)	missense	possibly damaging	0.75
R1845:Tmem268	UTSW	4	63,498,180 (GRCm39)	missense	probably damaging	1.00
R3196:Tmem268	UTSW	4	63,496,149 (GRCm39)	critical splice donor site	probably null
R4296:Tmem268	UTSW	4	63,484,005 (GRCm39)	critical splice donor site	probably null
R4927:Tmem268	UTSW	4	63,502,164 (GRCm39)	missense	probably benign
R5023:Tmem268	UTSW	4	63,486,777 (GRCm39)	missense	probably damaging	1.00
R5057:Tmem268	UTSW	4	63,486,777 (GRCm39)	missense	probably damaging	1.00
R5946:Tmem268	UTSW	4	63,486,746 (GRCm39)	missense	probably damaging	1.00
R7138:Tmem268	UTSW	4	63,480,687 (GRCm39)	start gained	probably benign
R7577:Tmem268	UTSW	4	63,480,681 (GRCm39)	start gained	probably benign
R8188:Tmem268	UTSW	4	63,498,209 (GRCm39)	missense	probably damaging	0.97
R8428:Tmem268	UTSW	4	63,496,141 (GRCm39)	missense	probably damaging	1.00
R8773:Tmem268	UTSW	4	63,498,530 (GRCm39)	missense	probably benign	0.02
R8777:Tmem268	UTSW	4	63,496,076 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Tmem268	UTSW	4	63,496,076 (GRCm39)	missense	probably damaging	1.00
R9451:Tmem268	UTSW	4	63,488,256 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AAGCTCTGTTACCCTCAGGTC -3'
(R):5'- AGGCCTACATGACTGAGACTC -3'

Sequencing Primer
(F):5'- CAGCTACTGGCAGTGTTT -3'
(R):5'- AAGTGTTCCCAAATGCTGGC -3'

Posted On

2021-03-08