Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02508:Tmem132a'

296454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem132a

Ensembl Gene

ENSMUSG00000024736

Gene Name

transmembrane protein 132A

Synonyms

6720481D13Rik, Hspa5bp1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02508

Quality Score

Status

Chromosome

Chromosomal Location

10835186-10847304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10835882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 883 (S883P)

Ref Sequence

ENSEMBL: ENSMUSP00000025645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025645] [ENSMUST00000025646] [ENSMUST00000120524]

AlphaFold

Q922P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000025645
AA Change: S883P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025645
Gene: ENSMUSG00000024736
AA Change: S883P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:TMEM132D_N	44	167	1.6e-35	PFAM
low complexity region	206	223	N/A	INTRINSIC
Pfam:TMEM132	403	745	4.1e-108	PFAM
low complexity region	759	776	N/A	INTRINSIC
Pfam:TMEM132D_C	809	897	1.5e-31	PFAM
low complexity region	906	923	N/A	INTRINSIC
low complexity region	932	944	N/A	INTRINSIC
low complexity region	960	976	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000025646

SMART Domains

Protein: ENSMUSP00000025646
Gene: ENSMUSG00000024737

Domain	Start	End	E-Value	Type
low complexity region	21	37	N/A	INTRINSIC
Pfam:MFS_1	38	508	3.4e-10	PFAM
Pfam:PTR2	101	519	3.2e-79	PFAM
transmembrane domain	538	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120524

SMART Domains

Protein: ENSMUSP00000113696
Gene: ENSMUSG00000024736

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	206	223	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138263

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	T	A	3: 116,870,764 (GRCm39)		noncoding transcript	Het
Adgrv1	A	T	13: 81,583,675 (GRCm39)		probably benign	Het
AI429214	T	G	8: 37,461,240 (GRCm39)	D129E	probably benign	Het
Alx1	G	A	10: 102,858,054 (GRCm39)	T215M	probably damaging	Het
Arhgap39	A	G	15: 76,609,184 (GRCm39)	*1079Q	probably null	Het
Brca2	T	C	5: 150,466,773 (GRCm39)	V2179A	possibly damaging	Het
Cdcp3	A	G	7: 130,824,559 (GRCm39)	E91G	probably damaging	Het
Celsr1	G	A	15: 85,914,818 (GRCm39)	Q1052*	probably null	Het
Chd5	A	G	4: 152,447,481 (GRCm39)	E510G	probably damaging	Het
Cntnap2	A	G	6: 46,211,254 (GRCm39)	D556G	probably damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Cyp4a31	A	T	4: 115,428,261 (GRCm39)	Y319F	probably damaging	Het
Dcaf12	C	T	4: 41,296,310 (GRCm39)		probably null	Het
Dcc	C	A	18: 71,503,773 (GRCm39)	A942S	probably benign	Het
Dyrk1a	A	T	16: 94,486,042 (GRCm39)	D463V	probably damaging	Het
Eln	T	A	5: 134,733,422 (GRCm39)		probably benign	Het
Fbxl13	A	G	5: 21,761,803 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,512,900 (GRCm39)	Y742C	probably damaging	Het
Furin	G	A	7: 80,042,269 (GRCm39)	T442I	probably benign	Het
Gli1	T	C	10: 127,172,961 (GRCm39)	Q155R	probably benign	Het
Glra3	A	G	8: 56,538,179 (GRCm39)	E218G	probably benign	Het
Grb10	C	T	11: 11,896,767 (GRCm39)	V236M	probably damaging	Het
Grhl2	T	C	15: 37,310,009 (GRCm39)		probably benign	Het
Hgfac	A	T	5: 35,204,564 (GRCm39)	M579L	probably damaging	Het
Ifi202b	A	T	1: 173,802,338 (GRCm39)	D165E	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Klk12	T	C	7: 43,419,113 (GRCm39)	V26A	probably benign	Het
Lrp2	C	T	2: 69,333,774 (GRCm39)	G1489D	probably benign	Het
Lrrtm1	A	T	6: 77,221,574 (GRCm39)	S344C	probably damaging	Het
Lzts1	G	A	8: 69,593,500 (GRCm39)	R36*	probably null	Het
Mapkap1	T	C	2: 34,408,681 (GRCm39)		probably benign	Het
Meis3	T	A	7: 15,912,722 (GRCm39)		probably null	Het
Mtmr14	T	A	6: 113,217,267 (GRCm39)	C60S	probably damaging	Het
Nfkb1	T	A	3: 135,296,579 (GRCm39)	Y789F	probably damaging	Het
Nup54	G	A	5: 92,565,398 (GRCm39)	Q440*	probably null	Het
Ogdhl	T	G	14: 32,067,131 (GRCm39)	M861R	probably damaging	Het
Or13c7b	T	C	4: 43,821,289 (GRCm39)	E24G	possibly damaging	Het
Or4d10	G	T	19: 12,051,251 (GRCm39)	H248Q	possibly damaging	Het
Or4k42	C	T	2: 111,320,180 (GRCm39)	A108T	probably damaging	Het
Or52w1	A	T	7: 105,017,743 (GRCm39)	H61L	possibly damaging	Het
Or6c69b	A	G	10: 129,626,660 (GRCm39)	V266A	probably benign	Het
Pde6c	A	G	19: 38,145,948 (GRCm39)	K412R	probably benign	Het
Pex5l	T	C	3: 33,047,051 (GRCm39)		probably benign	Het
Pigr	A	T	1: 130,778,595 (GRCm39)	I760L	probably benign	Het
Pramel28	T	C	4: 143,691,590 (GRCm39)	N378D	probably benign	Het
Prr14l	G	A	5: 32,988,286 (GRCm39)	A403V	probably benign	Het
Prrt3	T	C	6: 113,471,268 (GRCm39)	D968G	probably damaging	Het
Psmc5	T	C	11: 106,153,869 (GRCm39)	I401T	possibly damaging	Het
Ralyl	T	A	3: 14,172,332 (GRCm39)		probably benign	Het
Samd9l	T	C	6: 3,374,798 (GRCm39)	E821G	probably damaging	Het
Serpinb3a	T	A	1: 106,973,802 (GRCm39)	I370F	probably damaging	Het
Setd1a	A	G	7: 127,396,870 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,951,615 (GRCm39)	F381L	probably benign	Het
Strada	A	G	11: 106,059,182 (GRCm39)	Y199H	probably benign	Het
Stxbp2	T	C	8: 3,682,531 (GRCm39)	I40T	probably damaging	Het
Tbx3	T	C	5: 119,816,877 (GRCm39)	V358A	possibly damaging	Het
Tenm3	A	G	8: 48,752,674 (GRCm39)	L896S	probably benign	Het
Trio	A	G	15: 27,818,190 (GRCm39)	I496T	possibly damaging	Het
Unc79	C	T	12: 103,078,535 (GRCm39)	R1548W	probably damaging	Het
Unc79	T	C	12: 103,078,277 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,996,067 (GRCm39)	M194V	possibly damaging	Het

Other mutations in Tmem132a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Tmem132a	APN	19	10,838,888 (GRCm39)	splice site	probably benign
R0514:Tmem132a	UTSW	19	10,836,355 (GRCm39)	missense	probably damaging	0.99
R0918:Tmem132a	UTSW	19	10,835,477 (GRCm39)	missense	probably damaging	1.00
R1160:Tmem132a	UTSW	19	10,835,938 (GRCm39)	missense	probably damaging	0.98
R1205:Tmem132a	UTSW	19	10,836,448 (GRCm39)	missense	probably benign	0.03
R1619:Tmem132a	UTSW	19	10,839,062 (GRCm39)	missense	probably damaging	1.00
R1777:Tmem132a	UTSW	19	10,835,870 (GRCm39)	missense	probably damaging	1.00
R1815:Tmem132a	UTSW	19	10,838,931 (GRCm39)	nonsense	probably null
R1869:Tmem132a	UTSW	19	10,836,052 (GRCm39)	missense	possibly damaging	0.48
R1888:Tmem132a	UTSW	19	10,840,863 (GRCm39)	missense	probably damaging	1.00
R1888:Tmem132a	UTSW	19	10,840,863 (GRCm39)	missense	probably damaging	1.00
R2133:Tmem132a	UTSW	19	10,841,430 (GRCm39)	missense	probably benign	0.26
R2441:Tmem132a	UTSW	19	10,837,501 (GRCm39)	missense	probably damaging	0.96
R2570:Tmem132a	UTSW	19	10,837,106 (GRCm39)	missense	probably null	1.00
R3157:Tmem132a	UTSW	19	10,836,901 (GRCm39)	nonsense	probably null
R3159:Tmem132a	UTSW	19	10,836,901 (GRCm39)	nonsense	probably null
R4152:Tmem132a	UTSW	19	10,836,427 (GRCm39)	missense	probably benign	0.04
R4281:Tmem132a	UTSW	19	10,839,090 (GRCm39)	missense	possibly damaging	0.81
R4547:Tmem132a	UTSW	19	10,837,564 (GRCm39)	missense	possibly damaging	0.83
R4793:Tmem132a	UTSW	19	10,842,857 (GRCm39)	missense	probably damaging	1.00
R4947:Tmem132a	UTSW	19	10,844,298 (GRCm39)	missense	possibly damaging	0.90
R4998:Tmem132a	UTSW	19	10,836,305 (GRCm39)	missense	probably benign	0.02
R5226:Tmem132a	UTSW	19	10,844,508 (GRCm39)	missense	possibly damaging	0.50
R5323:Tmem132a	UTSW	19	10,841,371 (GRCm39)	missense	possibly damaging	0.81
R6659:Tmem132a	UTSW	19	10,837,685 (GRCm39)	missense	probably damaging	0.99
R6814:Tmem132a	UTSW	19	10,840,669 (GRCm39)	missense	probably damaging	1.00
R6872:Tmem132a	UTSW	19	10,840,669 (GRCm39)	missense	probably damaging	1.00
R7205:Tmem132a	UTSW	19	10,844,295 (GRCm39)	missense	probably damaging	1.00
R7383:Tmem132a	UTSW	19	10,844,358 (GRCm39)	missense	probably benign	0.01
R7505:Tmem132a	UTSW	19	10,836,037 (GRCm39)	missense	probably damaging	1.00
R7513:Tmem132a	UTSW	19	10,837,492 (GRCm39)	missense	probably damaging	0.98
R7595:Tmem132a	UTSW	19	10,835,569 (GRCm39)	missense	probably damaging	1.00
R8327:Tmem132a	UTSW	19	10,836,311 (GRCm39)	missense	probably benign	0.45
R8442:Tmem132a	UTSW	19	10,835,833 (GRCm39)	missense	probably damaging	1.00
R8550:Tmem132a	UTSW	19	10,837,745 (GRCm39)	missense	probably benign
R8905:Tmem132a	UTSW	19	10,842,647 (GRCm39)	missense	probably damaging	1.00
R9025:Tmem132a	UTSW	19	10,837,525 (GRCm39)	missense	probably damaging	0.97
R9032:Tmem132a	UTSW	19	10,843,835 (GRCm39)	missense	probably damaging	0.99
R9085:Tmem132a	UTSW	19	10,843,835 (GRCm39)	missense	probably damaging	0.99
R9095:Tmem132a	UTSW	19	10,844,412 (GRCm39)	missense	probably benign	0.32
R9563:Tmem132a	UTSW	19	10,838,960 (GRCm39)	missense	probably benign	0.04
R9744:Tmem132a	UTSW	19	10,840,678 (GRCm39)	missense	probably damaging	1.00
R9774:Tmem132a	UTSW	19	10,842,904 (GRCm39)	nonsense	probably null
Z1088:Tmem132a	UTSW	19	10,836,299 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16