Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03146:Tmem255b'

410914

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem255b

Ensembl Gene

ENSMUSG00000038457

Gene Name

transmembrane protein 255B

Synonyms

Fam70b, LOC272465

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL03146

Quality Score

Status

Chromosome

Chromosomal Location

13485189-13518473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13504174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 101 (L101P)

Ref Sequence

ENSEMBL: ENSMUSP00000127421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167071] [ENSMUST00000167505] [ENSMUST00000210804]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000167071
AA Change: L101P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127421
Gene: ENSMUSG00000038457
AA Change: L101P

Domain	Start	End	E-Value	Type
Pfam:FAM70	1	68	8.2e-28	PFAM
Pfam:FAM70	66	307	1.8e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167505
AA Change: L122P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130504
Gene: ENSMUSG00000038457
AA Change: L122P

Domain	Start	End	E-Value	Type
Pfam:FAM70	6	328	6e-166	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209950

Predicted Effect

probably benign
Transcript: ENSMUST00000210804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211356

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,294,519 (GRCm39)	D360G	probably damaging	Het
Adam6a	A	T	12: 113,509,144 (GRCm39)	T506S	probably damaging	Het
Adamts15	A	G	9: 30,832,863 (GRCm39)	V224A	probably damaging	Het
Arhgef12	G	T	9: 42,885,866 (GRCm39)	D1251E	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Ccdc85c	G	A	12: 108,173,395 (GRCm39)	R387*	probably null	Het
Cfap57	T	A	4: 118,456,216 (GRCm39)	I493F	probably damaging	Het
Chst9	A	G	18: 15,586,035 (GRCm39)	I176T	probably damaging	Het
Clpx	G	T	9: 65,234,112 (GRCm39)	V572L	probably benign	Het
Csmd3	T	A	15: 47,744,873 (GRCm39)	N1374I	probably benign	Het
Cyp2e1	T	A	7: 140,350,134 (GRCm39)	M273K	probably benign	Het
Ehbp1l1	T	C	19: 5,770,061 (GRCm39)	E414G	probably benign	Het
Ehd1	T	C	19: 6,327,368 (GRCm39)	F122L	probably damaging	Het
Fcho1	A	G	8: 72,170,074 (GRCm39)		probably benign	Het
Fermt3	T	C	19: 6,980,631 (GRCm39)	E312G	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
G3bp2	G	A	5: 92,214,399 (GRCm39)	R132C	probably damaging	Het
Inpp4b	A	T	8: 82,470,410 (GRCm39)	I35F	possibly damaging	Het
Izumo3	T	G	4: 92,033,276 (GRCm39)	I107L	probably damaging	Het
Lama3	C	A	18: 12,660,681 (GRCm39)	Q484K	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mapkbp1	T	C	2: 119,828,955 (GRCm39)		probably benign	Het
Mast4	T	C	13: 102,874,163 (GRCm39)	N1735S	probably benign	Het
Or14a257	T	C	7: 86,138,402 (GRCm39)	D119G	probably damaging	Het
Or4c100	T	A	2: 88,356,488 (GRCm39)	M187K	possibly damaging	Het
Oxct1	T	C	15: 4,130,630 (GRCm39)	L374P	probably damaging	Het
Parp14	G	A	16: 35,678,823 (GRCm39)	Q382*	probably null	Het
Pax2	A	G	19: 44,821,714 (GRCm39)		probably benign	Het
Prkaa1	T	C	15: 5,198,122 (GRCm39)	V146A	probably damaging	Het
Ptprb	C	T	10: 116,164,032 (GRCm39)	A900V	probably benign	Het
Rgs6	A	T	12: 83,099,312 (GRCm39)	D130V	probably damaging	Het
Ryr1	C	A	7: 28,793,457 (GRCm39)	R1344L	probably benign	Het
Scgb1b12	C	A	7: 32,033,969 (GRCm39)	D76E	possibly damaging	Het
Sel1l3	T	A	5: 53,311,585 (GRCm39)	E633D	probably benign	Het
Slc1a7	T	A	4: 107,850,189 (GRCm39)	I100N	probably damaging	Het
Slc25a35	A	G	11: 68,859,678 (GRCm39)	K64E	possibly damaging	Het
Spmip4	A	T	6: 50,550,853 (GRCm39)	V532E	probably damaging	Het
Stil	C	A	4: 114,881,612 (GRCm39)	Q719K	probably damaging	Het
Stim1	T	A	7: 102,070,562 (GRCm39)	L265Q	probably damaging	Het
Tmem191	A	G	16: 17,095,246 (GRCm39)	E169G	probably damaging	Het
Trgv3	C	A	13: 19,427,337 (GRCm39)	Y73*	probably null	Het
Zfyve26	G	A	12: 79,330,846 (GRCm39)	Q458*	probably null	Het

Other mutations in Tmem255b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Tmem255b	APN	8	13,507,054 (GRCm39)	missense	probably benign
IGL02635:Tmem255b	APN	8	13,505,195 (GRCm39)	missense	probably damaging	1.00
IGL02679:Tmem255b	APN	8	13,507,055 (GRCm39)	missense	probably benign	0.04
IGL02945:Tmem255b	APN	8	13,505,141 (GRCm39)	missense	probably damaging	0.98
IGL03007:Tmem255b	APN	8	13,507,066 (GRCm39)	missense	possibly damaging	0.94
R2278:Tmem255b	UTSW	8	13,501,081 (GRCm39)	missense	probably damaging	1.00
R2410:Tmem255b	UTSW	8	13,491,278 (GRCm39)	missense	probably benign	0.22
R3081:Tmem255b	UTSW	8	13,501,048 (GRCm39)	missense	probably damaging	0.99
R4498:Tmem255b	UTSW	8	13,505,998 (GRCm39)	missense	probably damaging	1.00
R4612:Tmem255b	UTSW	8	13,504,228 (GRCm39)	missense	probably benign	0.00
R6018:Tmem255b	UTSW	8	13,505,138 (GRCm39)	missense	probably benign	0.00
R6073:Tmem255b	UTSW	8	13,506,958 (GRCm39)	missense	probably damaging	0.98
R6240:Tmem255b	UTSW	8	13,504,216 (GRCm39)	missense	probably damaging	1.00
R6737:Tmem255b	UTSW	8	13,507,096 (GRCm39)	critical splice donor site	probably null
R8231:Tmem255b	UTSW	8	13,504,225 (GRCm39)	missense	probably damaging	0.97
R9653:Tmem255b	UTSW	8	13,506,005 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02