Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Tmem132b'

63811

Institutional Source

Beutler Lab

Gene Symbol

Tmem132b

Ensembl Gene

ENSMUSG00000070498

Gene Name

transmembrane protein 132B

Synonyms

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0724 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

125531774-125792583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125783421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 577 (T577S)

Ref Sequence

ENSEMBL: ENSMUSP00000031446 (fasta)

Gene Model

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

AlphaFold

F7BAB2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031446
AA Change: T577S

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498
AA Change: T577S

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

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Ces3a	T	A	8: 105,050,195	D103E	possibly damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	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
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
R8900:Tmem132b	UTSW	5	125778820	missense	probably damaging	0.96
R9147:Tmem132b	UTSW	5	125787103	missense	probably damaging	1.00
R9148:Tmem132b	UTSW	5	125787103	missense	probably damaging	1.00
R9179:Tmem132b	UTSW	5	125623051	missense	probably benign	0.02
R9215:Tmem132b	UTSW	5	125787116	missense	probably damaging	0.99
R9231:Tmem132b	UTSW	5	125783467	missense	probably damaging	1.00
R9284:Tmem132b	UTSW	5	125787647	missense	possibly damaging	0.67
R9311:Tmem132b	UTSW	5	125785965	missense	possibly damaging	0.56
R9436:Tmem132b	UTSW	5	125698569	missense	possibly damaging	0.53
R9484:Tmem132b	UTSW	5	125783356	missense	probably damaging	0.98
R9775:Tmem132b	UTSW	5	125787502	missense	probably benign	0.07
Z1176:Tmem132b	UTSW	5	125787886	missense	possibly damaging	0.51

Predicted Primers

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

Sequencing Primer
(F):5'- TCCTCTGACAGTCAGGCTGAG -3'
(R):5'- ATACCTGCACAGTGGTGATGC -3'

Posted On

2013-07-30