Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00712:Tmem256'

8431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem256

Ensembl Gene

ENSMUSG00000070394

Gene Name

transmembrane protein 256

Synonyms

3110009M16Rik, 1810027O10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00712

Quality Score

Status

Chromosome

Chromosomal Location

69729340-69730444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69730063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 47 (L47S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056484] [ENSMUST00000094065] [ENSMUST00000108634]

AlphaFold

Q5F285

Predicted Effect

probably benign
Transcript: ENSMUST00000056484

SMART Domains

Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790

Domain	Start	End	E-Value	Type
Pfam:COesterase	31	601	1.6e-199	PFAM
Pfam:Abhydrolase_3	180	372	4.8e-9	PFAM
low complexity region	630	652	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
low complexity region	702	712	N/A	INTRINSIC
low complexity region	713	731	N/A	INTRINSIC
low complexity region	782	823	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094065
AA Change: L56S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091608
Gene: ENSMUSG00000070394
AA Change: L56S

Domain	Start	End	E-Value	Type
Pfam:DUF423	21	102	1.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108634

SMART Domains

Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790

Domain	Start	End	E-Value	Type
Pfam:COesterase	30	601	2e-186	PFAM
Pfam:Abhydrolase_3	180	327	3.3e-9	PFAM
low complexity region	630	652	N/A	INTRINSIC
transmembrane domain	678	700	N/A	INTRINSIC
low complexity region	702	712	N/A	INTRINSIC
low complexity region	713	731	N/A	INTRINSIC
low complexity region	782	823	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128281

Predicted Effect

probably damaging
Transcript: ENSMUST00000133967
AA Change: L47S

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

SMART Domains

Protein: ENSMUSP00000114883
Gene: ENSMUSG00000070394
AA Change: L47S

Domain	Start	End	E-Value	Type
Pfam:DUF423	13	94	5.7e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139085

Predicted Effect

probably benign
Transcript: ENSMUST00000139893

SMART Domains

Protein: ENSMUSP00000120428
Gene: ENSMUSG00000051790

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	262	9.3e-120	PFAM
Pfam:Abhydrolase_3	104	250	2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156556

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	C	T	10: 4,357,164 (GRCm38)	V1325L	probably benign	Het
Ccdc150	A	C	1: 54,311,709 (GRCm39)		probably benign	Het
Fth1	A	G	19: 9,962,163 (GRCm39)	T136A	probably benign	Het
Itpr2	T	C	6: 146,133,934 (GRCm39)	D1857G	possibly damaging	Het
Nbas	A	G	12: 13,412,626 (GRCm39)		probably benign	Het
Nipbl	T	A	15: 8,398,958 (GRCm39)	R115S	probably damaging	Het
Nlrp14	A	G	7: 106,796,448 (GRCm39)	N266D	probably damaging	Het

Other mutations in Tmem256

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0305:Tmem256	UTSW	11	69,729,737 (GRCm39)	unclassified	probably benign
R2201:Tmem256	UTSW	11	69,730,271 (GRCm39)	missense	probably benign	0.15
R5017:Tmem256	UTSW	11	69,729,818 (GRCm39)	unclassified	probably benign
R7056:Tmem256	UTSW	11	69,729,416 (GRCm39)	unclassified	probably benign
R9618:Tmem256	UTSW	11	69,730,210 (GRCm39)	missense	possibly damaging	0.88
Z1177:Tmem256	UTSW	11	69,729,397 (GRCm39)	missense	unknown

Posted On

2012-12-06