Mutagenetix > Incidental Mutations

Incidental Mutation 'R2097:Tmem132b'

230309

Institutional Source

Beutler Lab

Gene Symbol

Tmem132b

Ensembl Gene

ENSMUSG00000070498

Gene Name

transmembrane protein 132B

Synonyms

MMRRC Submission

040101-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2097 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125531774-125792583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125638208 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 327 (I327K)

Ref Sequence

ENSEMBL: ENSMUSP00000031446 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031446
AA Change: I327K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: I327K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184422

Meta Mutation Damage Score

0.4087

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,181,964	R29*	probably null	Het
Actr8	T	C	14: 29,987,228	V263A	probably damaging	Het
Apol6	T	A	15: 77,047,133		probably null	Het
Aqp3	C	T	4: 41,098,004	V36M	possibly damaging	Het
Bace1	G	T	9: 45,860,222	C478F	probably benign	Het
Bbof1	C	A	12: 84,413,307	A116D	probably damaging	Het
Casq1	A	T	1: 172,210,421	L381Q	probably damaging	Het
Ccdc138	T	A	10: 58,561,937	L533*	probably null	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cntn6	A	G	6: 104,861,949	E988G	probably damaging	Het
Cts6	T	A	13: 61,195,445	N321Y	probably damaging	Het
Dnmt1	A	G	9: 20,909,788	S1269P	probably benign	Het
Dsg4	C	A	18: 20,471,044	P856H	probably damaging	Het
Fndc3a	C	A	14: 72,574,351		probably null	Het
Galc	T	C	12: 98,252,032	D187G	probably benign	Het
Gfm1	T	C	3: 67,449,746	I384T	probably damaging	Het
Hacd2	A	G	16: 35,048,720	I92V	probably benign	Het
Hmcn2	T	A	2: 31,380,419	Y1223N	probably damaging	Het
Il20ra	T	C	10: 19,759,463	I484T	probably damaging	Het
Map7	G	T	10: 20,246,616	V143F	probably damaging	Het
Mcm3ap	T	C	10: 76,512,489	L1893P	probably damaging	Het
Msh6	A	G	17: 87,985,416	N533S	probably benign	Het
Nbea	T	C	3: 55,723,217	D2233G	probably damaging	Het
Nlrp6	A	T	7: 140,923,204	T408S	probably damaging	Het
Notch3	A	T	17: 32,122,754	L2008Q	probably damaging	Het
Olfr1051	A	T	2: 86,276,039	Y149*	probably null	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pggt1b	T	C	18: 46,246,628	N296D	probably benign	Het
Pglyrp3	T	A	3: 92,028,171	F243I	possibly damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	T	A	13: 48,592,659		probably null	Het
Ptprq	T	C	10: 107,653,493	T924A	probably benign	Het
Pwp2	C	A	10: 78,177,742		probably benign	Het
Slc7a4	G	T	16: 17,573,455		probably null	Het
Trim9	T	C	12: 70,347,159	M4V	probably damaging	Het
Tspan13	T	C	12: 36,021,830	S128G	probably benign	Het
Ttc25	T	A	11: 100,563,582	F398I	possibly damaging	Het
Zbtb20	A	G	16: 43,609,519	D131G	probably null	Het
Zeb2	A	T	2: 44,997,156	C615S	probably damaging	Het
Zfp777	C	T	6: 48,044,242	D149N	probably benign	Het
Zfp990	A	G	4: 145,537,322	K297E	possibly 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
R1137:Tmem132b	UTSW	5	125783542	missense	possibly damaging	0.94
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
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
R8111:Tmem132b	UTSW	5	125622793	missense	probably benign	0.00
R8326:Tmem132b	UTSW	5	125787554	missense	probably damaging	1.00
R8525:Tmem132b	UTSW	5	125638316	missense	probably benign	0.01
Z1176:Tmem132b	UTSW	5	125787886	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- AGGGAATCTCCATGTGATACTGATA -3'
(R):5'- TGAGCATGTCTCTCTGTCCC -3'

Sequencing Primer
(F):5'- GGAGGATGATCTCATTCCACACTG -3'
(R):5'- GTCCCTTGCTCTAGTAAACCACAC -3'

Posted On

2014-09-18