Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01609:Tmem45a'

91896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem45a

Ensembl Gene

ENSMUSG00000022754

Gene Name

transmembrane protein 45a

Synonyms

C630002M10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01609

Quality Score

Status

Chromosome

Chromosomal Location

56625524-56706529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56631928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 230 (I230T)

Ref Sequence

ENSEMBL: ENSMUSP00000023435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023435]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023435
AA Change: I230T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023435
Gene: ENSMUSG00000022754
AA Change: I230T

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
Pfam:DUF716	119	239	8.9e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148452

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
Ablim3	A	G	18: 61,955,092 (GRCm39)	V299A	probably benign	Het
Actr5	T	C	2: 158,478,722 (GRCm39)		probably null	Het
Arhgap18	A	G	10: 26,756,744 (GRCm39)	D448G	possibly damaging	Het
Bcl9	T	C	3: 97,116,291 (GRCm39)	E801G	probably benign	Het
Bin1	A	G	18: 32,552,978 (GRCm39)	N232S	probably damaging	Het
Brf1	A	C	12: 112,927,211 (GRCm39)	Y459D	probably damaging	Het
Clca4a	T	A	3: 144,659,541 (GRCm39)	I772F	probably damaging	Het
Cyp2a4	G	A	7: 26,008,088 (GRCm39)		probably null	Het
Dync1i2	T	A	2: 71,077,352 (GRCm39)		probably benign	Het
Frem3	T	A	8: 81,339,333 (GRCm39)	M542K	probably benign	Het
Gpbp1	T	C	13: 111,575,736 (GRCm39)	T256A	possibly damaging	Het
Ighm	T	C	12: 113,384,854 (GRCm39)		probably benign	Het
Igkv3-12	A	G	6: 70,495,232 (GRCm39)		probably benign	Het
Kdm4d	A	G	9: 14,375,714 (GRCm39)	V48A	probably damaging	Het
Lama2	T	C	10: 27,220,417 (GRCm39)	S483G	probably benign	Het
Lbp	A	C	2: 158,170,332 (GRCm39)	Q464P	probably damaging	Het
Lipo4	T	C	19: 33,476,654 (GRCm39)	T365A	probably benign	Het
Mark3	T	C	12: 111,593,956 (GRCm39)	F274S	probably damaging	Het
Mcm3	A	T	1: 20,884,904 (GRCm39)		probably benign	Het
Mrpl9	T	A	3: 94,352,001 (GRCm39)	F137I	probably damaging	Het
Msh4	G	T	3: 153,603,034 (GRCm39)	A93E	probably damaging	Het
Mthfd1l	T	A	10: 3,968,567 (GRCm39)	D407E	probably benign	Het
Or10j7	G	A	1: 173,011,843 (GRCm39)	H53Y	probably benign	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or1i2	A	C	10: 78,447,960 (GRCm39)	S172A	probably benign	Het
Pcsk2	G	T	2: 143,643,078 (GRCm39)	V452L	possibly damaging	Het
Pcsk6	G	A	7: 65,685,021 (GRCm39)		probably null	Het
Pmfbp1	A	G	8: 110,254,348 (GRCm39)	E461G	probably benign	Het
Pole2	A	G	12: 69,254,631 (GRCm39)		probably null	Het
Postn	T	C	3: 54,276,649 (GRCm39)	M176T	probably damaging	Het
Prss12	T	A	3: 123,276,483 (GRCm39)	C371S	probably damaging	Het
Rnf11	T	A	4: 109,314,173 (GRCm39)	Q72L	possibly damaging	Het
Rrad	A	G	8: 105,356,456 (GRCm39)		probably null	Het
Slitrk3	T	A	3: 72,957,570 (GRCm39)	I401F	probably damaging	Het
Themis	A	G	10: 28,544,749 (GRCm39)		probably benign	Het
Tnni1	C	A	1: 135,733,234 (GRCm39)		probably null	Het
Trpa1	A	T	1: 14,982,607 (GRCm39)	I83N	probably damaging	Het
Uggt1	T	C	1: 36,221,555 (GRCm39)	Y54C	probably damaging	Het
Umodl1	C	T	17: 31,217,800 (GRCm39)	T1202I	possibly damaging	Het
Unc93a2	A	G	17: 7,637,138 (GRCm39)	V130A	probably damaging	Het
Usp37	G	A	1: 74,514,199 (GRCm39)	A324V	probably benign	Het
Zfp808	T	A	13: 62,321,023 (GRCm39)	C751S	probably damaging	Het

Other mutations in Tmem45a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03189:Tmem45a	APN	16	56,631,936 (GRCm39)	nonsense	probably null
R1481:Tmem45a	UTSW	16	56,631,965 (GRCm39)	missense	possibly damaging	0.62
R1698:Tmem45a	UTSW	16	56,643,933 (GRCm39)	missense	probably benign	0.10
R1748:Tmem45a	UTSW	16	56,642,701 (GRCm39)	missense	possibly damaging	0.94
R1759:Tmem45a	UTSW	16	56,642,765 (GRCm39)	missense	probably benign
R1921:Tmem45a	UTSW	16	56,642,665 (GRCm39)	missense	probably benign	0.11
R2277:Tmem45a	UTSW	16	56,643,882 (GRCm39)	missense	probably damaging	1.00
R2279:Tmem45a	UTSW	16	56,643,882 (GRCm39)	missense	probably damaging	1.00
R3899:Tmem45a	UTSW	16	56,627,101 (GRCm39)	missense	probably damaging	1.00
R4941:Tmem45a	UTSW	16	56,642,652 (GRCm39)	missense	possibly damaging	0.62
R5489:Tmem45a	UTSW	16	56,646,074 (GRCm39)	splice site	probably null
R6914:Tmem45a	UTSW	16	56,646,145 (GRCm39)	missense	probably benign	0.00
R6942:Tmem45a	UTSW	16	56,646,145 (GRCm39)	missense	probably benign	0.00
R7064:Tmem45a	UTSW	16	56,642,767 (GRCm39)	missense	probably benign	0.00
R7197:Tmem45a	UTSW	16	56,632,026 (GRCm39)	missense	probably damaging	0.99
R7746:Tmem45a	UTSW	16	56,646,100 (GRCm39)	missense	probably damaging	0.98
R9301:Tmem45a	UTSW	16	56,627,134 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09