Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02573:Tmem37'

299114

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem37

Ensembl Gene

ENSMUSG00000050777

Gene Name

transmembrane protein 37

Synonyms

Pr1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02573

Quality Score

Status

Chromosome

Chromosomal Location

120067377-120074074 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120067989 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 119 (D119E)

Ref Sequence

ENSEMBL: ENSMUSP00000050862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056089] [ENSMUST00000072886] [ENSMUST00000189037]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056089
AA Change: D119E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000050862
Gene: ENSMUSG00000050777
AA Change: D119E

Domain	Start	End	E-Value	Type
Pfam:TMEM37	7	189	4.1e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072886

SMART Domains

Protein: ENSMUSP00000072660
Gene: ENSMUSG00000026387

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	76	146	5.18e-21	SMART
Pfam:7tm_2	153	398	3.8e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189037

SMART Domains

Protein: ENSMUSP00000139932
Gene: ENSMUSG00000026387

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	61	131	2.59e-21	SMART
Pfam:7tm_2	138	383	1.9e-89	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl3	T	A	4: 99,037,934	W434R	probably damaging	Het
Atp7b	T	C	8: 22,022,470	Q344R	probably benign	Het
B4galt5	C	T	2: 167,305,062	R284Q	probably benign	Het
Ccdc80	T	G	16: 45,095,589	V236G	probably damaging	Het
Chd8	T	C	14: 52,219,734	I926V	possibly damaging	Het
Dgkz	A	C	2: 91,934,197	S1030R	probably damaging	Het
Disp3	T	A	4: 148,271,449	D318V	probably damaging	Het
Ehd1	T	C	19: 6,294,300	S197P	probably damaging	Het
Emp1	A	G	6: 135,379,947	K42R	probably benign	Het
Fam71a	G	A	1: 191,163,870	T192I	probably damaging	Het
Gm4922	T	A	10: 18,783,675	D433V	probably benign	Het
Gsdma	T	C	11: 98,670,751		probably benign	Het
Hspbp1	G	T	7: 4,677,853	A208E	probably damaging	Het
Il5ra	A	T	6: 106,716,751	V342E	possibly damaging	Het
Kif13b	T	C	14: 64,803,431	F1660S	probably damaging	Het
Lvrn	A	G	18: 46,876,949	E388G	probably damaging	Het
Mettl17	G	A	14: 51,888,047		probably null	Het
Mgat5b	T	C	11: 116,977,714	Y488H	probably benign	Het
Mtr	A	T	13: 12,199,127	D886E	possibly damaging	Het
Naip6	A	T	13: 100,299,471	L848*	probably null	Het
Nav3	A	G	10: 109,866,974	S233P	probably benign	Het
Nme9	A	T	9: 99,470,855	D286V	probably benign	Het
Nod1	C	A	6: 54,943,945	A463S	probably benign	Het
Nthl1	A	G	17: 24,633,975	K51R	probably benign	Het
Olfr354	A	G	2: 36,907,554	I203V	probably damaging	Het
Olfr427	T	A	1: 174,100,130	V224D	possibly damaging	Het
Pcnx2	G	A	8: 125,855,273	A908V	probably benign	Het
Pdcd6	A	G	13: 74,303,979	Y181H	probably damaging	Het
Pde10a	A	C	17: 8,961,890	I719L	probably benign	Het
Pikfyve	T	A	1: 65,230,855		probably null	Het
Plekha5	G	T	6: 140,582,016	A396S	probably damaging	Het
Ppfia2	A	G	10: 106,828,928	T342A	probably damaging	Het
Rbck1	A	G	2: 152,322,167	I339T	possibly damaging	Het
Rbms2	A	T	10: 128,143,440	I140N	probably damaging	Het
Scn1b	A	T	7: 31,123,121	L78Q	possibly damaging	Het
Slc12a6	T	C	2: 112,358,641		probably null	Het
Slc25a30	A	T	14: 75,769,668		probably benign	Het
Slc30a7	C	T	3: 115,990,147		probably benign	Het
Slc5a10	C	A	11: 61,673,072	R546L	possibly damaging	Het
Stxbp4	T	C	11: 90,540,269	D405G	probably damaging	Het
Tm4sf19	A	C	16: 32,407,860	T156P	possibly damaging	Het
Tor1aip1	T	A	1: 156,013,371	N113I	probably damaging	Het
Ubac2	T	A	14: 121,907,390	Y87N	possibly damaging	Het
Usp29	A	T	7: 6,962,618		probably null	Het
Wdr92	T	C	11: 17,212,136	L58P	possibly damaging	Het
Zfp276	A	G	8: 123,264,997	E428G	probably damaging	Het

Other mutations in Tmem37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1864:Tmem37	UTSW	1	120068222	missense	probably damaging	1.00
R1865:Tmem37	UTSW	1	120068222	missense	probably damaging	1.00
R4632:Tmem37	UTSW	1	120068249	missense	probably damaging	1.00
R4715:Tmem37	UTSW	1	120068205	missense	probably damaging	1.00
U24488:Tmem37	UTSW	1	120067954	missense	probably benign	0.00
Z1177:Tmem37	UTSW	1	120068028	missense	not run

Posted On

2015-04-16