Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01121:Tmem45a2'

52948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem45a2

Ensembl Gene

ENSMUSG00000046748

Gene Name

transmembrane protein 45A2

Synonyms

2310005G13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01121

Quality Score

Status

Chromosome

Chromosomal Location

56857330-56891735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56861153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 225 (D225N)

Ref Sequence

ENSEMBL: ENSMUSP00000154589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067173] [ENSMUST00000227043]

AlphaFold

B7ZWJ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067173
AA Change: D225N

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070137
Gene: ENSMUSG00000046748
AA Change: D225N

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
transmembrane domain	108	126	N/A	INTRINSIC
Pfam:DUF716	133	255	9.1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226147

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227043
AA Change: D225N

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

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
2700046A07Rik	G	A	18: 62,888,219 (GRCm39)		noncoding transcript	Het
4930432E11Rik	A	T	7: 29,273,426 (GRCm39)		noncoding transcript	Het
Alg3	T	C	16: 20,429,397 (GRCm39)	E31G	probably damaging	Het
Arhgap29	A	G	3: 121,803,512 (GRCm39)	E764G	probably damaging	Het
Atp5mf	C	A	5: 145,121,378 (GRCm39)	V68L	probably benign	Het
Birc6	T	A	17: 74,938,033 (GRCm39)	I2645K	probably benign	Het
Capn11	A	G	17: 45,950,058 (GRCm39)	S369P	probably benign	Het
Car4	A	T	11: 84,855,172 (GRCm39)		probably null	Het
Ccdc185	C	T	1: 182,576,222 (GRCm39)	V156I	probably benign	Het
Cpsf2	G	T	12: 101,954,965 (GRCm39)	E245D	probably damaging	Het
Dnah11	T	C	12: 118,014,430 (GRCm39)	D2019G	probably benign	Het
Dscc1	A	G	15: 54,945,721 (GRCm39)		probably benign	Het
Dzip3	T	C	16: 48,765,244 (GRCm39)	D490G	probably benign	Het
E2f8	G	A	7: 48,517,569 (GRCm39)	Q745*	probably null	Het
Fat3	T	A	9: 15,909,697 (GRCm39)	T2102S	probably benign	Het
Fgf7	C	T	2: 125,930,152 (GRCm39)		probably benign	Het
Fstl4	T	C	11: 52,705,464 (GRCm39)	F47L	probably benign	Het
Gm15097	A	T	X: 148,587,324 (GRCm39)	R129S	possibly damaging	Het
Gm4297	C	T	X: 24,418,854 (GRCm39)	D200N	probably benign	Het
Itgb5	G	T	16: 33,740,359 (GRCm39)	D490Y	probably benign	Het
Kansl1	A	G	11: 104,226,422 (GRCm39)	S912P	probably benign	Het
Kcnq3	A	T	15: 65,877,826 (GRCm39)		probably benign	Het
Kctd6	A	G	14: 8,222,656 (GRCm38)	H166R	possibly damaging	Het
Kel	T	C	6: 41,679,343 (GRCm39)	D140G	probably benign	Het
Lrif1	C	A	3: 106,642,980 (GRCm39)	S177*	probably null	Het
Lrp1	A	T	10: 127,419,722 (GRCm39)	C962*	probably null	Het
Lypd5	A	T	7: 24,050,976 (GRCm39)	Y29F	probably benign	Het
Mmrn1	A	G	6: 60,952,928 (GRCm39)	D403G	possibly damaging	Het
Nhsl1	T	G	10: 18,387,458 (GRCm39)	V244G	probably damaging	Het
Or6c35	T	C	10: 129,168,804 (GRCm39)	I18T	probably benign	Het
Ptprd	A	T	4: 75,872,438 (GRCm39)		probably benign	Het
Rcan2	A	T	17: 44,328,775 (GRCm39)	I69L	probably damaging	Het
Rprd2	A	G	3: 95,683,862 (GRCm39)	L373P	probably damaging	Het
Slc10a4	T	C	5: 73,164,929 (GRCm39)	C174R	probably damaging	Het
Tas2r134	C	T	2: 51,518,001 (GRCm39)	T160I	probably damaging	Het
Tbc1d19	T	A	5: 54,054,404 (GRCm39)	L464*	probably null	Het
Unc79	G	A	12: 103,131,890 (GRCm39)	C2139Y	probably damaging	Het
Vmn2r101	G	T	17: 19,809,936 (GRCm39)	G241C	probably damaging	Het
Vmn2r91	T	C	17: 18,356,766 (GRCm39)	V811A	possibly damaging	Het
Wdr11	T	C	7: 129,229,746 (GRCm39)	Y844H	probably benign	Het
Wdr70	T	C	15: 7,902,655 (GRCm39)	K656E	possibly damaging	Het
Zfp579	C	A	7: 4,996,246 (GRCm39)	C555F	possibly damaging	Het

Other mutations in Tmem45a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Tmem45a2	APN	16	56,865,618 (GRCm39)	missense	probably damaging	1.00
IGL01481:Tmem45a2	APN	16	56,867,375 (GRCm39)	missense	probably benign	0.00
R0230:Tmem45a2	UTSW	16	56,867,359 (GRCm39)	missense	possibly damaging	0.79
R0633:Tmem45a2	UTSW	16	56,869,777 (GRCm39)	missense	probably benign	0.03
R0850:Tmem45a2	UTSW	16	56,865,732 (GRCm39)	missense	probably benign	0.00
R1164:Tmem45a2	UTSW	16	56,869,789 (GRCm39)	missense	probably damaging	0.99
R1874:Tmem45a2	UTSW	16	56,867,447 (GRCm39)	missense	possibly damaging	0.86
R3938:Tmem45a2	UTSW	16	56,859,398 (GRCm39)	missense	probably benign
R4084:Tmem45a2	UTSW	16	56,891,387 (GRCm39)	missense	probably benign
R5309:Tmem45a2	UTSW	16	56,859,370 (GRCm39)	missense	possibly damaging	0.70
R5312:Tmem45a2	UTSW	16	56,859,370 (GRCm39)	missense	possibly damaging	0.70
R6866:Tmem45a2	UTSW	16	56,867,386 (GRCm39)	missense	probably damaging	0.97
R9055:Tmem45a2	UTSW	16	56,861,115 (GRCm39)	missense	probably benign	0.42
R9286:Tmem45a2	UTSW	16	56,867,332 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21