Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02076:Tmem33'

185993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem33

Ensembl Gene

ENSMUSG00000037720

Gene Name

transmembrane protein 33

Synonyms

2700052H22Rik, 5430406L04Rik, 1110006G02Rik, 1600019D15Rik, 2410089A21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL02076

Quality Score

Status

Chromosome

Chromosomal Location

67260565-67291461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67286103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 208 (F208L)

Ref Sequence

ENSEMBL: ENSMUSP00000124390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037918] [ENSMUST00000160352] [ENSMUST00000161369] [ENSMUST00000201979]

AlphaFold

Q9CR67

Predicted Effect

probably damaging
Transcript: ENSMUST00000037918
AA Change: F208L

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

SMART Domains

Protein: ENSMUSP00000042852
Gene: ENSMUSG00000037720
AA Change: F208L

Domain	Start	End	E-Value	Type
Pfam:UPF0121	1	247	9.8e-126	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160352
AA Change: F208L

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

SMART Domains

Protein: ENSMUSP00000124766
Gene: ENSMUSG00000037720
AA Change: F208L

Domain	Start	End	E-Value	Type
Pfam:UPF0121	1	246	2.8e-126	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161369
AA Change: F208L

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

SMART Domains

Protein: ENSMUSP00000124390
Gene: ENSMUSG00000037720
AA Change: F208L

Domain	Start	End	E-Value	Type
Pfam:UPF0121	7	245	1.8e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201979

SMART Domains

Protein: ENSMUSP00000144531
Gene: ENSMUSG00000037720

Domain	Start	End	E-Value	Type
Pfam:UPF0121	7	61	5.9e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,900	Y407C	probably damaging	Het
Capn5	T	A	7: 98,131,743	K276*	probably null	Het
Cct4	T	C	11: 23,002,394	V495A	probably damaging	Het
Dapk3	A	G	10: 81,190,297	K141E	probably damaging	Het
Diexf	T	C	1: 193,130,059	H31R	probably damaging	Het
Dnah2	T	C	11: 69,422,559	N4264S	probably damaging	Het
Dok1	A	G	6: 83,032,831	L99P	probably damaging	Het
Ebf3	A	G	7: 137,231,301	V215A	possibly damaging	Het
Efnb2	A	G	8: 8,660,488	S43P	probably benign	Het
Jhy	G	A	9: 40,917,378	Q411*	probably null	Het
Krt73	G	A	15: 101,799,935	T229I	probably damaging	Het
Mroh8	A	G	2: 157,271,962		probably null	Het
Olfm1	A	G	2: 28,222,625	T223A	probably damaging	Het
Olfr32	T	A	2: 90,138,815	E108V	probably damaging	Het
Olfr937	A	G	9: 39,060,585	L27P	probably damaging	Het
Oprk1	T	A	1: 5,602,289	D216E	probably damaging	Het
Pim1	T	A	17: 29,493,803	I230N	probably damaging	Het
Ppm1f	A	C	16: 16,914,171	T162P	possibly damaging	Het
Rbbp8	T	C	18: 11,705,819	Y186H	probably damaging	Het
Sema4a	C	T	3: 88,450,522	R225H	probably damaging	Het
Slc15a2	A	C	16: 36,762,381	F215C	probably damaging	Het
Slc25a1	A	G	16: 17,927,626	C41R	possibly damaging	Het
Stil	C	A	4: 115,023,637	H459Q	probably benign	Het
Tbc1d32	A	G	10: 56,088,403	I900T	possibly damaging	Het
Vmn2r72	A	G	7: 85,738,367	V663A	probably damaging	Het

Other mutations in Tmem33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Tmem33	APN	5	67284195	missense	probably damaging	1.00
IGL03106:Tmem33	APN	5	67263796	missense	probably damaging	1.00
commonplace	UTSW	5	67264459	critical splice donor site	probably null
R0573:Tmem33	UTSW	5	67264260	intron	probably benign
R0839:Tmem33	UTSW	5	67264308	missense	probably damaging	1.00
R1129:Tmem33	UTSW	5	67264460	splice site	probably null
R1438:Tmem33	UTSW	5	67267291	splice site	probably null
R1692:Tmem33	UTSW	5	67268554	missense	probably null	0.57
R4513:Tmem33	UTSW	5	67286125	missense	probably benign	0.02
R4763:Tmem33	UTSW	5	67286136	missense	probably benign	0.22
R6298:Tmem33	UTSW	5	67268551	nonsense	probably null
R6673:Tmem33	UTSW	5	67286125	missense	probably benign	0.02
R6813:Tmem33	UTSW	5	67264459	critical splice donor site	probably null
R7186:Tmem33	UTSW	5	67263787	missense	possibly damaging	0.68
R7378:Tmem33	UTSW	5	67286133	missense	probably benign
R8402:Tmem33	UTSW	5	67267375	splice site	probably benign
R9747:Tmem33	UTSW	5	67268579	missense	possibly damaging	0.88

Posted On

2014-05-07