Mutagenetix > Incidental Mutation

Incidental Mutation 'R0850:Tmem45a2'

82532

Institutional Source

Beutler Lab

Gene Symbol

Tmem45a2

Ensembl Gene

ENSMUSG00000046748

Gene Name

transmembrane protein 45A2

Synonyms

2310005G13Rik

MMRRC Submission

039029-MU

Accession Numbers

Essential gene?

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

Stock #

R0850 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56857330-56891735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56865732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 151 (I151F)

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: I151F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000070137
Gene: ENSMUSG00000046748
AA Change: I151F

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: I151F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Aadacl2fm2	T	G	3: 59,659,669 (GRCm39)	I374R	possibly damaging	Het
Agbl3	T	A	6: 34,776,139 (GRCm39)	F210Y	probably damaging	Het
Dgkq	A	G	5: 108,802,444 (GRCm39)	V418A	possibly damaging	Het
Dmp1	A	T	5: 104,360,653 (GRCm39)	D443V	possibly damaging	Het
Elapor2	T	A	5: 9,467,993 (GRCm39)	N220K	probably damaging	Het
Elavl3	T	G	9: 21,948,059 (GRCm39)	D35A	probably damaging	Het
Fbxo44	C	G	4: 148,240,726 (GRCm39)	R220S	probably damaging	Het
Fbxw25	T	C	9: 109,478,685 (GRCm39)	K425R	probably benign	Het
Gypa	A	G	8: 81,222,974 (GRCm39)	H26R	unknown	Het
H2-DMb1	T	C	17: 34,374,536 (GRCm39)	V62A	probably benign	Het
Helb	T	C	10: 119,941,272 (GRCm39)	H472R	probably damaging	Het
Herc1	T	G	9: 66,373,952 (GRCm39)	V3197G	probably damaging	Het
Herc2	C	A	7: 55,854,231 (GRCm39)	N3712K	probably benign	Het
Herc6	T	C	6: 57,560,227 (GRCm39)	V89A	possibly damaging	Het
Hspa1l	A	G	17: 35,196,599 (GRCm39)	T213A	probably benign	Het
Kcna7	T	C	7: 45,058,855 (GRCm39)	S381P	probably damaging	Het
Kif19a	C	A	11: 114,671,613 (GRCm39)	P164Q	probably damaging	Het
Macf1	A	G	4: 123,368,195 (GRCm39)	S2189P	probably benign	Het
Mpo	A	G	11: 87,688,328 (GRCm39)	N329S	probably damaging	Het
Mrps15	A	G	4: 125,942,479 (GRCm39)	Y76C	probably damaging	Het
Or51a42	T	A	7: 103,708,252 (GRCm39)	M186L	probably benign	Het
Or6c75	T	C	10: 129,337,593 (GRCm39)	V280A	probably damaging	Het
Prdm2	T	C	4: 142,858,773 (GRCm39)	R1506G	possibly damaging	Het
Ptprb	A	T	10: 116,138,030 (GRCm39)	Q311H	possibly damaging	Het
Ptprb	T	C	10: 116,175,415 (GRCm39)	Y1137H	probably damaging	Het
Scaf8	A	G	17: 3,246,049 (GRCm39)		probably null	Het
Slc25a1	A	T	16: 17,745,145 (GRCm39)	F105Y	probably benign	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Spmip3	A	G	1: 177,568,571 (GRCm39)	T23A	probably benign	Het
Tmed10	A	G	12: 85,390,279 (GRCm39)	F195L	probably benign	Het
Vmn2r93	C	A	17: 18,525,279 (GRCm39)	F312L	possibly damaging	Het
Zfp326	A	G	5: 106,026,663 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCAGCCACTAAGGAGAGAAGCC -3'
(R):5'- TGAGATTGCCGTGAGATTGCCG -3'

Sequencing Primer
(F):5'- TCCAAAGATGTCAACTCACCTG -3'
(R):5'- AAATTCTGTGGCTAGGGAGGGA -3'

Posted On

2013-11-08