Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02542:Tmem132b'

297717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem132b

Ensembl Gene

ENSMUSG00000070498

Gene Name

transmembrane protein 132B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL02542

Quality Score

Status

Chromosome

Chromosomal Location

125531774-125792583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125622494 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 73 (Q73P)

Ref Sequence

ENSEMBL: ENSMUSP00000139013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031446] [ENSMUST00000185104]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031446
AA Change: Q32P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: Q32P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000185104
AA Change: Q73P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa2	T	A	11: 23,490,559	T231S	possibly damaging	Het
Arfgef1	A	G	1: 10,172,842	L1091P	probably benign	Het
Arhgap32	A	T	9: 32,255,648	K527M	probably damaging	Het
Caap1	T	C	4: 94,550,505	N149S	probably benign	Het
Cc2d2a	A	G	5: 43,688,910		probably benign	Het
Cdk13	A	T	13: 17,728,178	I929K	probably damaging	Het
Fan1	A	G	7: 64,364,660	Y608H	probably damaging	Het
Foxj3	A	G	4: 119,620,343	N416S	unknown	Het
Gm20547	T	C	17: 34,857,260	S1151G	possibly damaging	Het
Ighv1-80	A	T	12: 115,912,579	I39N	probably damaging	Het
Igkv11-125	A	C	6: 67,914,007	E102A	probably damaging	Het
Mdc1	C	A	17: 35,853,156	P1199T	probably damaging	Het
Negr1	T	C	3: 156,562,225	S11P	probably damaging	Het
Oxsr1	T	C	9: 119,242,735	R477G	possibly damaging	Het
Pappa	T	A	4: 65,176,281	F514L	probably damaging	Het
Pde6c	G	T	19: 38,178,130	D707Y	probably damaging	Het
Phtf1	T	C	3: 103,993,906		probably benign	Het
Piezo2	T	A	18: 63,032,924	I2079F	probably damaging	Het
Ptprm	T	C	17: 66,920,150	D668G	probably benign	Het
Ptprq	T	C	10: 107,662,555	Y887C	probably damaging	Het
Rax	T	C	18: 65,938,630	E62G	possibly damaging	Het
Rnf25	T	C	1: 74,594,101	E364G	probably benign	Het
Sipa1l3	A	T	7: 29,388,065	D578E	probably damaging	Het
Slc14a2	T	G	18: 78,209,087	D3A	probably benign	Het
Slc28a3	A	G	13: 58,573,470	Y294H	probably damaging	Het
Slit1	T	C	19: 41,627,248	T811A	probably damaging	Het
Sorcs2	T	C	5: 36,025,942	T996A	probably damaging	Het
Tnrc6b	T	A	15: 80,902,352	I1275N	possibly damaging	Het
Vasp	A	T	7: 19,264,780	D17E	probably damaging	Het
Wdr19	A	G	5: 65,231,071	T700A	probably benign	Het
Ythdc2	T	G	18: 44,840,241	L315W	probably damaging	Het
Zfp385c	A	G	11: 100,629,916	V306A	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
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
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
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

Posted On

2015-04-16