Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02592:Tmem132e'

299763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem132e

Ensembl Gene

ENSMUSG00000020701

Gene Name

transmembrane protein 132E

Synonyms

LOC270893

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

IGL02592

Quality Score

Status

Chromosome

Chromosomal Location

82279726-82337158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82325462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 154 (D154V)

Ref Sequence

ENSEMBL: ENSMUSP00000052484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054245] [ENSMUST00000092852]

AlphaFold

Q6IEE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000054245
AA Change: D154V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: D154V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:TMEM132D_N	45	176	1.1e-52	PFAM
low complexity region	202	216	N/A	INTRINSIC
low complexity region	241	262	N/A	INTRINSIC
low complexity region	318	328	N/A	INTRINSIC
Pfam:TMEM132	451	797	1.7e-136	PFAM
low complexity region	827	837	N/A	INTRINSIC
low complexity region	841	854	N/A	INTRINSIC
Pfam:TMEM132D_C	867	944	2e-34	PFAM
low complexity region	967	998	N/A	INTRINSIC
low complexity region	1016	1027	N/A	INTRINSIC
low complexity region	1036	1043	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092852
AA Change: D154V

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: D154V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	226	236	N/A	INTRINSIC
low complexity region	471	489	N/A	INTRINSIC
low complexity region	735	745	N/A	INTRINSIC
low complexity region	749	762	N/A	INTRINSIC
transmembrane domain	798	820	N/A	INTRINSIC
low complexity region	875	906	N/A	INTRINSIC
low complexity region	924	935	N/A	INTRINSIC
low complexity region	944	951	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202598

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Cass4	T	C	2: 172,258,248 (GRCm39)	L82P	probably benign	Het
Cd53	C	A	3: 106,670,601 (GRCm39)	C144F	probably damaging	Het
Fancc	G	A	13: 63,508,011 (GRCm39)	R175W	probably damaging	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gpr149	T	C	3: 62,511,231 (GRCm39)	D256G	possibly damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Lvrn	T	A	18: 46,983,658 (GRCm39)	C134S	probably damaging	Het
Mroh8	A	T	2: 157,058,889 (GRCm39)	Y926N	probably damaging	Het
Nfxl1	A	G	5: 72,671,572 (GRCm39)	S896P	probably benign	Het
Orc4	A	T	2: 48,823,090 (GRCm39)		probably null	Het
Pcsk6	T	A	7: 65,618,776 (GRCm39)	H447Q	probably damaging	Het
Rfx6	C	A	10: 51,592,119 (GRCm39)	Q121K	probably damaging	Het
Rnase6	T	C	14: 51,367,982 (GRCm39)	Y125H	probably benign	Het
Sbno1	A	T	5: 124,538,872 (GRCm39)	Y494N	probably damaging	Het
Sppl3	G	A	5: 115,233,970 (GRCm39)	V347M	probably damaging	Het
Tlr12	G	A	4: 128,511,479 (GRCm39)	T257M	probably benign	Het
Zfp345	A	G	2: 150,315,229 (GRCm39)	Y103H	probably benign	Het
Zfp947	T	A	17: 22,365,233 (GRCm39)	Q147L	possibly damaging	Het

Other mutations in Tmem132e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Tmem132e	APN	11	82,329,200 (GRCm39)	missense	probably damaging	1.00
IGL01586:Tmem132e	APN	11	82,325,495 (GRCm39)	missense	probably damaging	1.00
IGL01729:Tmem132e	APN	11	82,325,942 (GRCm39)	missense	possibly damaging	0.89
R0029:Tmem132e	UTSW	11	82,335,587 (GRCm39)	missense	probably damaging	1.00
R0501:Tmem132e	UTSW	11	82,325,894 (GRCm39)	missense	possibly damaging	0.90
R0612:Tmem132e	UTSW	11	82,334,198 (GRCm39)	missense	probably damaging	1.00
R0613:Tmem132e	UTSW	11	82,329,164 (GRCm39)	missense	probably damaging	1.00
R1311:Tmem132e	UTSW	11	82,335,122 (GRCm39)	missense	probably damaging	1.00
R1430:Tmem132e	UTSW	11	82,329,122 (GRCm39)	missense	probably damaging	1.00
R1607:Tmem132e	UTSW	11	82,328,196 (GRCm39)	missense	probably benign	0.39
R1710:Tmem132e	UTSW	11	82,334,343 (GRCm39)	missense	probably damaging	1.00
R1913:Tmem132e	UTSW	11	82,334,243 (GRCm39)	missense	probably damaging	1.00
R1951:Tmem132e	UTSW	11	82,335,908 (GRCm39)	missense	possibly damaging	0.84
R2018:Tmem132e	UTSW	11	82,335,989 (GRCm39)	missense	probably benign	0.26
R2051:Tmem132e	UTSW	11	82,331,264 (GRCm39)	missense	probably damaging	1.00
R2076:Tmem132e	UTSW	11	82,325,894 (GRCm39)	missense	possibly damaging	0.90
R2100:Tmem132e	UTSW	11	82,335,357 (GRCm39)	missense	probably damaging	1.00
R2325:Tmem132e	UTSW	11	82,325,341 (GRCm39)	missense	probably damaging	1.00
R2924:Tmem132e	UTSW	11	82,335,149 (GRCm39)	missense	probably damaging	1.00
R3436:Tmem132e	UTSW	11	82,335,156 (GRCm39)	missense	probably damaging	1.00
R3437:Tmem132e	UTSW	11	82,335,156 (GRCm39)	missense	probably damaging	1.00
R4594:Tmem132e	UTSW	11	82,325,894 (GRCm39)	missense	possibly damaging	0.83
R4704:Tmem132e	UTSW	11	82,334,357 (GRCm39)	missense	probably damaging	0.97
R4754:Tmem132e	UTSW	11	82,335,677 (GRCm39)	nonsense	probably null
R4764:Tmem132e	UTSW	11	82,325,338 (GRCm39)	missense	probably damaging	0.99
R5245:Tmem132e	UTSW	11	82,333,464 (GRCm39)	missense	probably damaging	0.96
R5720:Tmem132e	UTSW	11	82,333,276 (GRCm39)	splice site	probably null
R5793:Tmem132e	UTSW	11	82,335,684 (GRCm39)	missense	probably damaging	1.00
R5984:Tmem132e	UTSW	11	82,335,923 (GRCm39)	missense	probably damaging	1.00
R6980:Tmem132e	UTSW	11	82,329,212 (GRCm39)	critical splice donor site	probably null
R7052:Tmem132e	UTSW	11	82,328,189 (GRCm39)	missense	probably damaging	0.99
R7637:Tmem132e	UTSW	11	82,325,342 (GRCm39)	missense	probably damaging	1.00
R7918:Tmem132e	UTSW	11	82,336,116 (GRCm39)	missense	probably damaging	1.00
R8262:Tmem132e	UTSW	11	82,325,666 (GRCm39)	missense	probably benign	0.33
R8772:Tmem132e	UTSW	11	82,325,137 (GRCm39)	missense	probably damaging	0.99
R9248:Tmem132e	UTSW	11	82,335,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem132e	UTSW	11	82,335,930 (GRCm39)	missense	probably damaging	0.97
Z1177:Tmem132e	UTSW	11	82,326,004 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16