Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Tmppe'

289435

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmppe

Ensembl Gene

ENSMUSG00000079260

Gene Name

transmembrane protein with metallophosphoesterase domain

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

114401105-114407276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114405200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 189 (V189A)

Ref Sequence

ENSEMBL: ENSMUSP00000107451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063042] [ENSMUST00000111820] [ENSMUST00000217583]

AlphaFold

D3Z286

Predicted Effect

probably benign
Transcript: ENSMUST00000063042

SMART Domains

Protein: ENSMUSP00000055803
Gene: ENSMUSG00000045594

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_35	41	358	2.5e-129	PFAM
Pfam:Glyco_hydro_42	56	216	9.4e-15	PFAM
Pfam:BetaGal_dom4_5	531	623	4.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111820
AA Change: V189A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107451
Gene: ENSMUSG00000079260
AA Change: V189A

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
transmembrane domain	42	64	N/A	INTRINSIC
transmembrane domain	84	106	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:Metallophos	207	389	5.1e-13	PFAM
Pfam:Metallophos_2	207	421	7.9e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217583

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
Abcb8	A	G	5: 24,406,464	I484V	probably benign	Het
Acly	C	T	11: 100,519,679	E158K	probably benign	Het
Akap3	T	A	6: 126,860,263	D3E	probably benign	Het
Alg8	A	G	7: 97,379,894	N152S	possibly damaging	Het
Ano7	A	G	1: 93,391,490	T323A	probably benign	Het
Bmp1	T	C	14: 70,507,549	Y252C	possibly damaging	Het
Cacnb3	A	T	15: 98,640,961	K159*	probably null	Het
Capns2	T	A	8: 92,902,062	V193D	probably benign	Het
Cct2	A	G	10: 117,053,139	I48T	probably benign	Het
Cep152	A	G	2: 125,594,956	S555P	probably damaging	Het
Col5a3	T	C	9: 20,772,361	E1533G	unknown	Het
Cyp17a1	A	G	19: 46,667,497	L451P	probably damaging	Het
D1Ertd622e	A	G	1: 97,646,052	L96P	probably damaging	Het
Dgcr8	T	C	16: 18,280,306	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,255,571	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,099,503	L235*	probably null	Het
Fgfr2	A	G	7: 130,242,606	Y50H	probably damaging	Het
Gars	T	A	6: 55,048,064		probably benign	Het
Gfpt2	A	T	11: 49,807,703	I42F	probably benign	Het
Glcci1	A	G	6: 8,558,581	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,307,255	M163L	probably damaging	Het
Gpr132	T	C	12: 112,852,855	Y117C	probably damaging	Het
Ints1	G	A	5: 139,768,468	P650S	probably damaging	Het
Itga2b	T	C	11: 102,461,363	D464G	probably damaging	Het
Kansl2	C	A	15: 98,529,446	G185C	probably damaging	Het
Kat6b	T	A	14: 21,637,593	M570K	probably damaging	Het
Map3k19	T	A	1: 127,823,769	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,556,013		probably benign	Het
Msto1	A	C	3: 88,910,898	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,863,105		probably benign	Het
Nhlrc2	T	C	19: 56,591,719	V428A	possibly damaging	Het
Olfr33	G	A	7: 102,714,126	R96C	probably damaging	Het
Olfr348	A	C	2: 36,787,046	T174P	possibly damaging	Het
Olfr470	A	G	7: 107,845,605	S43P	probably benign	Het
Olfr568	A	T	7: 102,877,909	Y263F	probably benign	Het
Olfr61	T	C	7: 140,638,471	F257L	probably benign	Het
Olfr874	T	A	9: 37,746,206	M24K	probably benign	Het
Pcm1	G	T	8: 41,288,155		probably null	Het
Plekhg3	A	T	12: 76,562,300	N149I	probably damaging	Het
Rbp3	C	A	14: 33,955,719	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236		probably null	Het
Scyl2	A	T	10: 89,657,938		probably benign	Het
Tas2r144	A	C	6: 42,216,076	H250P	probably benign	Het
Trp53bp1	G	A	2: 121,199,074	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,218,729	L60H	probably damaging	Het
Upp2	A	G	2: 58,777,886	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,952,516	L638P	probably damaging	Het
Vnn1	A	G	10: 23,898,503	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,567,042	Q241*	probably null	Het
Zfp990	A	G	4: 145,530,877		probably benign	Het

Other mutations in Tmppe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Tmppe	APN	9	114405107	missense	probably benign	0.03
IGL02274:Tmppe	APN	9	114405431	missense	probably benign
R0201:Tmppe	UTSW	9	114404639	frame shift	probably null
R1668:Tmppe	UTSW	9	114404900	missense	possibly damaging	0.89
R2206:Tmppe	UTSW	9	114405572	missense	probably benign
R5026:Tmppe	UTSW	9	114405819	missense	possibly damaging	0.90
R5054:Tmppe	UTSW	9	114405958	missense	probably benign	0.41
R5118:Tmppe	UTSW	9	114405481	missense	probably benign	0.02
R5623:Tmppe	UTSW	9	114405896	missense	possibly damaging	0.59
R6307:Tmppe	UTSW	9	114404744	missense	probably benign	0.00
R6502:Tmppe	UTSW	9	114405652	missense	probably damaging	1.00
R6597:Tmppe	UTSW	9	114405244	missense	probably benign	0.00
R6627:Tmppe	UTSW	9	114405485	missense	probably damaging	1.00
R6888:Tmppe	UTSW	9	114404701	missense	probably damaging	1.00
R6954:Tmppe	UTSW	9	114405523	missense	probably benign	0.06
R7032:Tmppe	UTSW	9	114405790	missense	probably damaging	1.00
R7141:Tmppe	UTSW	9	114404968	missense	probably benign	0.00
R7642:Tmppe	UTSW	9	114404794	missense	possibly damaging	0.95
R8894:Tmppe	UTSW	9	114401192	start gained	probably benign
R9101:Tmppe	UTSW	9	114405241	missense	probably damaging	0.99
Z1088:Tmppe	UTSW	9	114405077	missense	probably benign	0.01

Posted On

2015-04-16