Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01064:Tmem246'

50837

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem246

Ensembl Gene

ENSMUSG00000039611

Gene Name

transmembrane protein 246

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

49584506-49597876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 49586860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 103 (V103M)

Ref Sequence

ENSEMBL: ENSMUSP00000115100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042750] [ENSMUST00000150664] [ENSMUST00000151542]

AlphaFold

Q91YV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042750
AA Change: V103M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040885
Gene: ENSMUSG00000039611
AA Change: V103M

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	262	280	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150664
AA Change: V103M

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115100
Gene: ENSMUSG00000039611
AA Change: V103M

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151542

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,483,855 (GRCm38)	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,732,388 (GRCm38)	Y924H	possibly damaging	Het
Ash1l	T	G	3: 89,072,484 (GRCm38)	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm38)	S162N	probably damaging	Het
Cpne6	T	C	14: 55,512,730 (GRCm38)	F106S	probably damaging	Het
Cysltr1	A	T	X: 106,578,736 (GRCm38)	I48N	probably damaging	Het
Dsg1a	A	T	18: 20,340,206 (GRCm38)	I779F	probably damaging	Het
Fpr-rs4	T	A	17: 18,022,517 (GRCm38)	L262H	probably damaging	Het
Gart	G	A	16: 91,623,007 (GRCm38)	R871C	probably damaging	Het
Get4	C	T	5: 139,252,522 (GRCm38)	R20C	probably damaging	Het
Gm13030	G	A	4: 138,873,558 (GRCm38)		probably benign	Het
Gm17654	A	T	14: 43,578,998 (GRCm38)	H49Q	unknown	Het
Gpnmb	A	G	6: 49,055,659 (GRCm38)	I506V	probably benign	Het
Ist1	T	C	8: 109,682,611 (GRCm38)	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,633,192 (GRCm38)	D198N	probably damaging	Het
Kif5c	A	G	2: 49,694,816 (GRCm38)	I184V	possibly damaging	Het
Mink1	A	T	11: 70,603,481 (GRCm38)	M236L	probably benign	Het
Muc5ac	A	T	7: 141,807,473 (GRCm38)	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,517,053 (GRCm38)	E1326D	probably damaging	Het
Olfr1329	A	T	4: 118,916,894 (GRCm38)	M191K	possibly damaging	Het
Olfr1469	T	C	19: 13,411,226 (GRCm38)	I219T	probably benign	Het
Olfr635	A	T	7: 103,979,792 (GRCm38)	Y200F	probably benign	Het
Patj	T	C	4: 98,496,973 (GRCm38)	S326P	possibly damaging	Het
Pdha2	T	C	3: 141,211,015 (GRCm38)	H244R	possibly damaging	Het
Pkhd1	C	T	1: 20,534,530 (GRCm38)		probably benign	Het
Ptk7	A	T	17: 46,573,566 (GRCm38)	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866 (GRCm38)	G438D	probably damaging	Het
Rbm27	T	C	18: 42,319,814 (GRCm38)	V536A	possibly damaging	Het
Rundc3b	T	A	5: 8,569,553 (GRCm38)	M135L	probably damaging	Het
Sorcs2	T	C	5: 36,065,352 (GRCm38)	Y353C	probably damaging	Het
Srcap	T	C	7: 127,559,892 (GRCm38)		probably benign	Het
Sytl5	A	G	X: 9,905,595 (GRCm38)	H66R	probably benign	Het
Tlr7	T	A	X: 167,308,211 (GRCm38)	E93V	probably damaging	Het
Tmem156	A	G	5: 65,079,984 (GRCm38)	L76S	probably damaging	Het
Tomm70a	T	C	16: 57,152,612 (GRCm38)	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347 (GRCm38)	Y261C	possibly damaging	Het

Other mutations in Tmem246

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02210:Tmem246	APN	4	49,586,686 (GRCm38)	missense	probably benign
IGL03239:Tmem246	APN	4	49,586,034 (GRCm38)	missense	probably damaging	0.99
R0344:Tmem246	UTSW	4	49,586,566 (GRCm38)	missense	probably benign
R1134:Tmem246	UTSW	4	49,586,832 (GRCm38)	missense	probably benign
R1392:Tmem246	UTSW	4	49,586,919 (GRCm38)	missense	probably damaging	1.00
R1392:Tmem246	UTSW	4	49,586,919 (GRCm38)	missense	probably damaging	1.00
R2247:Tmem246	UTSW	4	49,586,209 (GRCm38)	missense	probably benign	0.05
R2288:Tmem246	UTSW	4	49,586,445 (GRCm38)	missense	probably damaging	1.00
R4630:Tmem246	UTSW	4	49,586,254 (GRCm38)	missense	probably benign	0.40
R5530:Tmem246	UTSW	4	49,586,226 (GRCm38)	missense	probably benign	0.04
R5939:Tmem246	UTSW	4	49,586,412 (GRCm38)	missense	probably damaging	0.98
R5955:Tmem246	UTSW	4	49,586,613 (GRCm38)	missense	probably damaging	1.00
R7009:Tmem246	UTSW	4	49,586,325 (GRCm38)	missense	probably benign
R7837:Tmem246	UTSW	4	49,586,262 (GRCm38)	missense	probably damaging	0.96
R8792:Tmem246	UTSW	4	49,587,067 (GRCm38)	missense	possibly damaging	0.86
R9120:Tmem246	UTSW	4	49,587,093 (GRCm38)	missense	probably benign	0.00
R9409:Tmem246	UTSW	4	49,586,043 (GRCm38)	missense	probably damaging	1.00
R9781:Tmem246	UTSW	4	49,586,890 (GRCm38)	missense	probably benign	0.09
Z1088:Tmem246	UTSW	4	49,587,135 (GRCm38)	missense	probably damaging	0.97
Z1177:Tmem246	UTSW	4	49,586,872 (GRCm38)	missense	possibly damaging	0.77

Posted On

2013-06-21