Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01481:Tmem45a2'

88603

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 #

IGL01481

Quality Score

Status

Chromosome

Chromosomal Location

56857330-56891735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56867375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 109 (I109F)

Ref Sequence

ENSEMBL: ENSMUSP00000154589 (fasta)

Gene Model

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

AlphaFold

B7ZWJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000067173
AA Change: I109F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000070137
Gene: ENSMUSG00000046748
AA Change: I109F

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

probably benign
Transcript: ENSMUST00000227043
AA Change: I109F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,910,079 (GRCm39)	S523C	probably damaging	Het
Apaf1	A	T	10: 90,867,450 (GRCm39)	D798E	possibly damaging	Het
Arhgef7	G	T	8: 11,865,256 (GRCm39)	V410L	probably benign	Het
Capn7	T	C	14: 31,077,296 (GRCm39)	L338P	probably damaging	Het
Cldn17	A	G	16: 88,303,471 (GRCm39)	V86A	probably benign	Het
Clec4a2	A	G	6: 123,119,459 (GRCm39)	N237S	probably benign	Het
Cmtr1	T	G	17: 29,917,631 (GRCm39)	I654S	probably benign	Het
Cryzl2	G	A	1: 157,298,309 (GRCm39)		probably null	Het
Ctif	A	G	18: 75,744,855 (GRCm39)		probably benign	Het
Dcaf7	T	A	11: 105,945,572 (GRCm39)	I307N	probably damaging	Het
Drosha	A	T	15: 12,842,525 (GRCm39)	T399S	probably benign	Het
Eef2k	A	T	7: 120,494,441 (GRCm39)	Y35F	probably benign	Het
Emc1	T	C	4: 139,089,410 (GRCm39)	S193P	probably benign	Het
Fpr2	T	C	17: 18,113,025 (GRCm39)	I7T	probably benign	Het
Fras1	C	A	5: 96,805,100 (GRCm39)	N1247K	probably damaging	Het
Gipr	T	C	7: 18,893,431 (GRCm39)		probably benign	Het
Heatr5a	C	T	12: 52,002,208 (GRCm39)	G243S	probably damaging	Het
Hivep2	G	A	10: 14,024,981 (GRCm39)	R2265Q	probably benign	Het
Iars1	T	C	13: 49,882,174 (GRCm39)	S1073P	probably benign	Het
Inpp4b	T	C	8: 82,724,009 (GRCm39)	S514P	probably damaging	Het
Inpp5b	T	A	4: 124,694,492 (GRCm39)		probably null	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Itih5	A	C	2: 10,195,100 (GRCm39)	Q164P	probably damaging	Het
Map3k19	T	A	1: 127,750,215 (GRCm39)	E1045D	probably damaging	Het
Mbd5	T	C	2: 49,168,951 (GRCm39)	V1374A	possibly damaging	Het
Mrps34	T	C	17: 25,116,310 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,321 (GRCm39)	D191G	probably damaging	Het
Nlrc3	T	G	16: 3,781,769 (GRCm39)	N563H	probably damaging	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or10g6	T	C	9: 39,934,574 (GRCm39)	M295T	possibly damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or4a79	A	G	2: 89,551,870 (GRCm39)	L195P	probably damaging	Het
Or52u1	C	A	7: 104,237,067 (GRCm39)	P36T	probably damaging	Het
Pdgfd	C	A	9: 6,337,271 (GRCm39)	T195K	probably null	Het
Ptprz1	C	A	6: 22,999,979 (GRCm39)	Q690K	probably benign	Het
Scfd1	T	A	12: 51,430,903 (GRCm39)	M23K	probably damaging	Het
Scn10a	G	A	9: 119,438,260 (GRCm39)	R1869C	probably damaging	Het
Scp2	T	C	4: 107,931,639 (GRCm39)		probably null	Het
Sec61a1	A	G	6: 88,483,829 (GRCm39)	V354A	probably benign	Het
Sgpp1	T	C	12: 75,769,431 (GRCm39)	I246V	probably benign	Het
Slco2a1	G	T	9: 102,947,450 (GRCm39)	D250Y	probably damaging	Het
Slit2	A	G	5: 48,460,273 (GRCm39)	N1435D	probably benign	Het
Sspo	A	G	6: 48,425,449 (GRCm39)	I23M	probably benign	Het
Steap4	A	T	5: 8,026,858 (GRCm39)	T274S	probably damaging	Het
Tbc1d22b	T	C	17: 29,787,572 (GRCm39)	L107P	possibly damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tox	T	A	4: 6,842,396 (GRCm39)	T45S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Wdr7	G	A	18: 63,872,250 (GRCm39)	D395N	probably 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
IGL01121:Tmem45a2	APN	16	56,861,153 (GRCm39)	missense	possibly damaging	0.81
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

2013-11-18