Mutagenetix > Incidental Mutations

Incidental Mutation 'R1137:Tmem132b'

95146

Institutional Source

Beutler Lab

Gene Symbol

Tmem132b

Ensembl Gene

ENSMUSG00000070498

Gene Name

transmembrane protein 132B

Synonyms

MMRRC Submission

039210-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125531774-125792583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125783542 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 617 (A617V)

Ref Sequence

ENSEMBL: ENSMUSP00000031446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031446]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031446
AA Change: A617V

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: A617V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TMEM132D_N	44	173	2.9e-53	PFAM
Pfam:TMEM132	432	774	5.9e-145	PFAM
Pfam:TMEM132D_C	870	953	1.3e-36	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 44,250,832	S54T	probably benign	Het
Ahdc1	A	G	4: 133,062,113	T222A	possibly damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Cep250	A	G	2: 155,990,840	K1561E	probably benign	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Clca4a	A	G	3: 144,970,685	V78A	probably damaging	Het
Clec4n	G	A	6: 123,246,567	M170I	possibly damaging	Het
Cp	G	T	3: 19,978,952	A648S	probably benign	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dnah8	A	G	17: 30,855,936	D4543G	probably damaging	Het
Elp3	A	G	14: 65,547,921	V477A	probably damaging	Het
Exoc6b	A	G	6: 84,908,223	S245P	probably benign	Het
Fkbp9	G	T	6: 56,860,697	G312V	probably damaging	Het
Htr4	A	G	18: 62,437,553	I226M	probably damaging	Het
Impa2	G	A	18: 67,318,427	V264I	probably benign	Het
Kif20b	T	C	19: 34,937,086		probably null	Het
Kmt2c	C	A	5: 25,310,983	V2621F	possibly damaging	Het
Lif	A	G	11: 4,269,237	D172G	probably damaging	Het
Llgl1	C	A	11: 60,704,733	H82N	probably benign	Het
Lrwd1	T	C	5: 136,133,419	I162M	probably benign	Het
Mdn1	T	A	4: 32,694,511	I1078N	probably damaging	Het
Muc1	A	T	3: 89,230,438	T196S	probably benign	Het
Myh7b	T	C	2: 155,622,714	L657P	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Ppp1cb	T	C	5: 32,487,671	M55T	probably damaging	Het
Ppp1r9a	T	C	6: 5,159,697	M1078T	possibly damaging	Het
Rarg	T	C	15: 102,241,160	T125A	probably damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Slc5a7	G	A	17: 54,293,011	R125C	probably damaging	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tigit	G	T	16: 43,649,122	T202N	probably benign	Het
Tpm1	T	C	9: 67,031,118		probably null	Het
Ubr3	A	G	2: 69,938,315		probably benign	Het
Vcan	T	A	13: 89,704,303	D846V	probably damaging	Het
Vmn1r16	T	G	6: 57,323,236	N134H	probably damaging	Het

Other mutations in Tmem132b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Tmem132b	APN	5	125698728	missense	probably benign
IGL01518:Tmem132b	APN	5	125778791	missense	probably damaging	1.00
IGL02542:Tmem132b	APN	5	125622494	missense	probably damaging	1.00
IGL02652:Tmem132b	APN	5	125787575	missense	probably damaging	1.00
IGL02671:Tmem132b	APN	5	125778727	missense	probably damaging	0.97
IGL02951:Tmem132b	APN	5	125787547	missense	probably damaging	0.99
R0456:Tmem132b	UTSW	5	125787724	missense	probably damaging	0.99
R0462:Tmem132b	UTSW	5	125785926	missense	probably damaging	1.00
R0724:Tmem132b	UTSW	5	125783421	missense	possibly damaging	0.95
R1168:Tmem132b	UTSW	5	125787019	missense	probably damaging	0.99
R1418:Tmem132b	UTSW	5	125638249	missense	probably benign	0.01
R1689:Tmem132b	UTSW	5	125787614	missense	possibly damaging	0.95
R1744:Tmem132b	UTSW	5	125778844	critical splice donor site	probably null
R1835:Tmem132b	UTSW	5	125785899	missense	probably damaging	1.00
R2016:Tmem132b	UTSW	5	125623016	missense	probably benign
R2033:Tmem132b	UTSW	5	125749289	missense	probably damaging	0.98
R2097:Tmem132b	UTSW	5	125638208	missense	probably damaging	0.99
R2114:Tmem132b	UTSW	5	125622551	missense	probably damaging	1.00
R2116:Tmem132b	UTSW	5	125622551	missense	probably damaging	1.00
R2117:Tmem132b	UTSW	5	125622551	missense	probably damaging	1.00
R2870:Tmem132b	UTSW	5	125638268	missense	probably benign
R2870:Tmem132b	UTSW	5	125638268	missense	probably benign
R3807:Tmem132b	UTSW	5	125787580	missense	probably damaging	1.00
R4825:Tmem132b	UTSW	5	125783433	missense	probably benign
R5149:Tmem132b	UTSW	5	125622925	missense	probably damaging	0.99
R5484:Tmem132b	UTSW	5	125787733	missense	probably damaging	1.00
R5623:Tmem132b	UTSW	5	125623352	missense	probably damaging	0.99
R5624:Tmem132b	UTSW	5	125622646	missense	probably benign	0.04
R5775:Tmem132b	UTSW	5	125638330	critical splice donor site	probably null
R7012:Tmem132b	UTSW	5	125698590	missense	probably damaging	1.00
R7142:Tmem132b	UTSW	5	125622673	missense	probably damaging	1.00
R7308:Tmem132b	UTSW	5	125787646	missense	possibly damaging	0.88
R7414:Tmem132b	UTSW	5	125787491	missense	probably damaging	1.00
R7452:Tmem132b	UTSW	5	125638268	missense	probably benign
R7650:Tmem132b	UTSW	5	125787010	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AAGCCGCTGCATTTCCTCTGAC -3'
(R):5'- CACGCTGATTGCGAATATGGACAC -3'

Sequencing Primer
(F):5'- AGGCTTTCCACCAATGAGG -3'
(R):5'- CTGATTGCGAATATGGACACATACC -3'

Posted On

2014-01-05