Mutagenetix > Incidental Mutations

Incidental Mutation 'R2924:Tmem132e'

255669

Institutional Source

Beutler Lab

Gene Symbol

Tmem132e

Ensembl Gene

ENSMUSG00000020701

Gene Name

transmembrane protein 132E

Synonyms

LOC270893

MMRRC Submission

040509-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R2924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82388900-82446332 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82444323 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 652 (S652P)

Ref Sequence

ENSEMBL: ENSMUSP00000090528 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054245
AA Change: S744P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: S744P

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 damaging
Transcript: ENSMUST00000092852
AA Change: S652P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: S652P

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: ENSMUST00000202598

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	G	3: 97,209,753	S542P	probably benign	Het
Cass4	A	G	2: 172,426,672	R225G	possibly damaging	Het
Ddx50	A	T	10: 62,627,594	V440E	probably damaging	Het
Dmrtc2	G	A	7: 24,872,516	C12Y	probably damaging	Het
Dock6	A	T	9: 21,809,630	I1693N	probably damaging	Het
Fuom	T	C	7: 140,099,949	T110A	probably benign	Het
Gli2	C	T	1: 118,836,359	R1354H	probably benign	Het
Gm5478	A	T	15: 101,643,794		probably null	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Il2rb	T	C	15: 78,491,849	M1V	probably null	Het
Ints6l	A	G	X: 56,504,836	E483G	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Man2b2	A	G	5: 36,824,102	F224L	probably benign	Het
Mrgpra1	G	A	7: 47,334,870		probably null	Het
Mtbp	G	A	15: 55,619,814	R429Q	probably benign	Het
Ncapg2	C	A	12: 116,438,729	T727K	probably benign	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Nup214	A	G	2: 31,998,003	K15E	probably damaging	Het
Olfr394	A	G	11: 73,887,511	I287T	probably damaging	Het
Oxr1	T	C	15: 41,825,957	Y526H	probably benign	Het
Plec	A	G	15: 76,178,252	F2563S	probably damaging	Het
Prex2	A	G	1: 11,098,487	T236A	probably damaging	Het
Rbbp5	G	C	1: 132,492,663		probably null	Het
Slc24a2	A	G	4: 87,011,724	S512P	probably benign	Het
Srd5a1	A	G	13: 69,586,715	S191P	probably damaging	Het
Syt3	T	A	7: 44,395,798	V518E	probably damaging	Het
Uba6	A	T	5: 86,159,271	V102D	probably damaging	Het
Unc13a	A	G	8: 71,644,952	V1158A	possibly damaging	Het
Upk3a	A	G	15: 85,018,149	Y59C	probably benign	Het
Zc3hav1	T	C	6: 38,354,110	Y38C	probably damaging	Het
Zfp119a	C	A	17: 55,868,343	D51Y	possibly damaging	Het

Other mutations in Tmem132e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Tmem132e	APN	11	82438374	missense	probably damaging	1.00
IGL01586:Tmem132e	APN	11	82434669	missense	probably damaging	1.00
IGL01729:Tmem132e	APN	11	82435116	missense	possibly damaging	0.89
IGL02592:Tmem132e	APN	11	82434636	missense	probably damaging	1.00
R0029:Tmem132e	UTSW	11	82444761	missense	probably damaging	1.00
R0501:Tmem132e	UTSW	11	82435068	missense	possibly damaging	0.90
R0612:Tmem132e	UTSW	11	82443372	missense	probably damaging	1.00
R0613:Tmem132e	UTSW	11	82438338	missense	probably damaging	1.00
R1311:Tmem132e	UTSW	11	82444296	missense	probably damaging	1.00
R1430:Tmem132e	UTSW	11	82438296	missense	probably damaging	1.00
R1607:Tmem132e	UTSW	11	82437370	missense	probably benign	0.39
R1710:Tmem132e	UTSW	11	82443517	missense	probably damaging	1.00
R1913:Tmem132e	UTSW	11	82443417	missense	probably damaging	1.00
R1951:Tmem132e	UTSW	11	82445082	missense	possibly damaging	0.84
R2018:Tmem132e	UTSW	11	82445163	missense	probably benign	0.26
R2051:Tmem132e	UTSW	11	82440438	missense	probably damaging	1.00
R2076:Tmem132e	UTSW	11	82435068	missense	possibly damaging	0.90
R2100:Tmem132e	UTSW	11	82444531	missense	probably damaging	1.00
R2325:Tmem132e	UTSW	11	82434515	missense	probably damaging	1.00
R3436:Tmem132e	UTSW	11	82444330	missense	probably damaging	1.00
R3437:Tmem132e	UTSW	11	82444330	missense	probably damaging	1.00
R4594:Tmem132e	UTSW	11	82435068	missense	possibly damaging	0.83
R4704:Tmem132e	UTSW	11	82443531	missense	probably damaging	0.97
R4754:Tmem132e	UTSW	11	82444851	nonsense	probably null
R4764:Tmem132e	UTSW	11	82434512	missense	probably damaging	0.99
R5245:Tmem132e	UTSW	11	82442638	missense	probably damaging	0.96
R5720:Tmem132e	UTSW	11	82442450	splice site	probably null
R5793:Tmem132e	UTSW	11	82444858	missense	probably damaging	1.00
R5984:Tmem132e	UTSW	11	82445097	missense	probably damaging	1.00
R6980:Tmem132e	UTSW	11	82438386	critical splice donor site	probably null
R7052:Tmem132e	UTSW	11	82437363	missense	probably damaging	0.99
R7637:Tmem132e	UTSW	11	82434516	missense	probably damaging	1.00
R7918:Tmem132e	UTSW	11	82445290	missense	probably damaging	1.00
R8262:Tmem132e	UTSW	11	82434840	missense	probably benign	0.33
Z1177:Tmem132e	UTSW	11	82435178	missense	probably damaging	1.00
Z1177:Tmem132e	UTSW	11	82445104	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCCTGAGTCTCAGCTAGCAC -3'
(R):5'- TAGTAGCCAGCACACTCTTGC -3'

Sequencing Primer
(F):5'- GCACCTAGCATTTCCAGTGTAAGG -3'
(R):5'- GCACACTCTTGCGCTTGG -3'

Posted On

2014-12-29