Mutagenetix > Incidental Mutation

Incidental Mutation 'R3053:Tmem132d'

265030

Institutional Source

Beutler Lab

Gene Symbol

Tmem132d

Ensembl Gene

ENSMUSG00000034310

Gene Name

transmembrane protein 132D

Synonyms

C630028F04Rik

MMRRC Submission

040562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R3053 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127860555-128510141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 127869538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 599 (S599A)

Ref Sequence

ENSEMBL: ENSMUSP00000043633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044441]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044441
AA Change: S599A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: S599A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:TMEM132D_N	49	178	1.9e-59	PFAM
Pfam:TMEM132	435	778	3.9e-150	PFAM
Pfam:TMEM132D_C	884	970	1.9e-37	PFAM
low complexity region	998	1011	N/A	INTRINSIC

Meta Mutation Damage Score

0.0833

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	C	16: 35,124,086 (GRCm39)	L1255P	probably damaging	Het
Agl	T	A	3: 116,584,682 (GRCm39)	I213F	probably damaging	Het
Arap2	A	G	5: 62,906,200 (GRCm39)	V273A	probably benign	Het
Asb18	T	A	1: 89,920,707 (GRCm39)	H149L	probably damaging	Het
Axdnd1	T	C	1: 156,169,440 (GRCm39)	T809A	probably damaging	Het
Bcl11b	T	C	12: 107,882,260 (GRCm39)	E613G	probably benign	Het
Cibar1	G	C	4: 12,157,767 (GRCm39)		probably null	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Cyp2a5	A	G	7: 26,542,410 (GRCm39)	I471V	possibly damaging	Het
Dmtf1	G	T	5: 9,179,316 (GRCm39)	T206K	probably damaging	Het
Dner	G	T	1: 84,361,747 (GRCm39)	Q621K	probably damaging	Het
Gmppa	A	G	1: 75,418,400 (GRCm39)	Y261C	probably benign	Het
Lama5	C	T	2: 179,824,860 (GRCm39)	R2519K	probably damaging	Het
Mical2	G	T	7: 111,910,630 (GRCm39)	A267S	probably damaging	Het
Nrxn3	A	T	12: 89,221,871 (GRCm39)	D550V	probably damaging	Het
Or1n1	T	A	2: 36,749,959 (GRCm39)	M134L	probably benign	Het
Pole	A	T	5: 110,437,661 (GRCm39)	D73V	probably damaging	Het
Ppm1b	G	A	17: 85,321,274 (GRCm39)	R472K	probably benign	Het
Ppm1m	A	G	9: 106,075,874 (GRCm39)	I18T	probably benign	Het
Psg18	C	T	7: 18,083,118 (GRCm39)	G225R	probably damaging	Het
R3hcc1l	T	G	19: 42,551,064 (GRCm39)	Y20*	probably null	Het
Rapgef1	T	C	2: 29,614,868 (GRCm39)	I817T	probably damaging	Het
Rasal3	T	C	17: 32,622,413 (GRCm39)	E4G	probably benign	Het
Ryr1	A	T	7: 28,752,515 (GRCm39)	V3598E	probably damaging	Het
Slc15a4	A	T	5: 127,673,746 (GRCm39)	V556E	possibly damaging	Het
Spats2l	A	G	1: 57,939,925 (GRCm39)	K193R	probably damaging	Het
Tacc2	G	A	7: 130,227,226 (GRCm39)	E1323K	possibly damaging	Het
Tbc1d21	T	A	9: 58,270,352 (GRCm39)	D141V	probably damaging	Het
Tedc1	G	T	12: 113,120,087 (GRCm39)		probably benign	Het
Terf2	A	C	8: 107,806,016 (GRCm39)	L312R	possibly damaging	Het
Trp53bp2	T	C	1: 182,281,347 (GRCm39)	F983L	probably damaging	Het
Ubxn2a	T	A	12: 4,941,322 (GRCm39)	K95*	probably null	Het
Ugt2a2	A	T	5: 87,622,328 (GRCm39)	N213K	probably damaging	Het
Xpo6	T	C	7: 125,703,893 (GRCm39)	N1086D	probably damaging	Het
Zbed5	A	T	5: 129,930,987 (GRCm39)	H312L	possibly damaging	Het
Zfp729b	A	G	13: 67,741,585 (GRCm39)	Y227H	probably damaging	Het

Other mutations in Tmem132d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Tmem132d	APN	5	127,861,896 (GRCm39)	missense	possibly damaging	0.77
IGL01393:Tmem132d	APN	5	127,861,702 (GRCm39)	missense	probably benign	0.31
IGL01482:Tmem132d	APN	5	128,346,270 (GRCm39)	missense	probably damaging	0.96
IGL01785:Tmem132d	APN	5	128,061,379 (GRCm39)	missense	probably benign	0.00
IGL02409:Tmem132d	APN	5	127,861,952 (GRCm39)	missense	probably damaging	1.00
IGL02539:Tmem132d	APN	5	127,861,043 (GRCm39)	missense	probably benign	0.01
IGL03411:Tmem132d	APN	5	128,061,347 (GRCm39)	nonsense	probably null
R0113:Tmem132d	UTSW	5	127,861,657 (GRCm39)	missense	probably benign	0.11
R0420:Tmem132d	UTSW	5	127,941,710 (GRCm39)	missense	probably benign	0.26
R0437:Tmem132d	UTSW	5	127,866,849 (GRCm39)	missense	probably damaging	0.99
R0468:Tmem132d	UTSW	5	128,346,267 (GRCm39)	missense	probably damaging	1.00
R0564:Tmem132d	UTSW	5	127,861,842 (GRCm39)	missense	probably damaging	1.00
R0659:Tmem132d	UTSW	5	128,061,351 (GRCm39)	missense	possibly damaging	0.94
R0924:Tmem132d	UTSW	5	128,061,503 (GRCm39)	splice site	probably benign
R1209:Tmem132d	UTSW	5	127,861,934 (GRCm39)	missense	probably damaging	1.00
R1333:Tmem132d	UTSW	5	127,861,923 (GRCm39)	missense	probably benign
R1378:Tmem132d	UTSW	5	128,346,011 (GRCm39)	missense	probably benign	0.43
R1741:Tmem132d	UTSW	5	127,861,922 (GRCm39)	missense	probably benign	0.30
R1753:Tmem132d	UTSW	5	127,866,919 (GRCm39)	missense	probably benign	0.02
R1944:Tmem132d	UTSW	5	127,860,828 (GRCm39)	makesense	probably null
R1974:Tmem132d	UTSW	5	128,346,263 (GRCm39)	missense	probably damaging	0.99
R2035:Tmem132d	UTSW	5	127,869,522 (GRCm39)	missense	probably damaging	1.00
R2065:Tmem132d	UTSW	5	127,861,505 (GRCm39)	missense	probably benign
R2074:Tmem132d	UTSW	5	128,346,195 (GRCm39)	missense	probably damaging	1.00
R2276:Tmem132d	UTSW	5	127,872,987 (GRCm39)	missense	probably damaging	1.00
R2297:Tmem132d	UTSW	5	128,345,608 (GRCm39)	missense	possibly damaging	0.69
R2424:Tmem132d	UTSW	5	127,941,663 (GRCm39)	missense	probably benign	0.09
R2902:Tmem132d	UTSW	5	127,860,832 (GRCm39)	missense	probably benign
R3836:Tmem132d	UTSW	5	127,861,949 (GRCm39)	missense	probably damaging	1.00
R4127:Tmem132d	UTSW	5	128,345,884 (GRCm39)	missense	probably benign	0.35
R4236:Tmem132d	UTSW	5	128,509,389 (GRCm39)	missense	possibly damaging	0.89
R4358:Tmem132d	UTSW	5	128,061,405 (GRCm39)	missense	possibly damaging	0.92
R4610:Tmem132d	UTSW	5	128,061,360 (GRCm39)	missense	probably benign	0.29
R4686:Tmem132d	UTSW	5	127,869,674 (GRCm39)	missense	possibly damaging	0.55
R4814:Tmem132d	UTSW	5	128,061,328 (GRCm39)	missense	probably benign	0.01
R4883:Tmem132d	UTSW	5	128,346,366 (GRCm39)	missense	possibly damaging	0.79
R4883:Tmem132d	UTSW	5	128,346,364 (GRCm39)	missense	probably damaging	0.99
R4939:Tmem132d	UTSW	5	127,873,139 (GRCm39)	missense	probably damaging	1.00
R5579:Tmem132d	UTSW	5	127,873,064 (GRCm39)	missense	possibly damaging	0.67
R5652:Tmem132d	UTSW	5	127,861,859 (GRCm39)	missense	possibly damaging	0.88
R5801:Tmem132d	UTSW	5	127,861,964 (GRCm39)	missense	possibly damaging	0.50
R5900:Tmem132d	UTSW	5	128,346,336 (GRCm39)	missense	probably damaging	1.00
R5980:Tmem132d	UTSW	5	127,861,662 (GRCm39)	missense	probably benign	0.13
R6048:Tmem132d	UTSW	5	128,346,181 (GRCm39)	missense	probably benign	0.03
R6057:Tmem132d	UTSW	5	127,861,934 (GRCm39)	missense	probably damaging	1.00
R6084:Tmem132d	UTSW	5	127,861,164 (GRCm39)	missense	probably benign	0.06
R6505:Tmem132d	UTSW	5	127,861,502 (GRCm39)	missense	probably benign	0.00
R6522:Tmem132d	UTSW	5	127,860,832 (GRCm39)	missense	probably benign
R6540:Tmem132d	UTSW	5	128,345,596 (GRCm39)	missense	possibly damaging	0.87
R6717:Tmem132d	UTSW	5	127,861,485 (GRCm39)	missense	probably benign
R7158:Tmem132d	UTSW	5	128,214,083 (GRCm39)	missense	possibly damaging	0.81
R7287:Tmem132d	UTSW	5	128,061,415 (GRCm39)	missense	probably damaging	0.96
R7526:Tmem132d	UTSW	5	127,861,205 (GRCm39)	nonsense	probably null
R7826:Tmem132d	UTSW	5	127,866,953 (GRCm39)	missense	probably damaging	1.00
R7864:Tmem132d	UTSW	5	127,860,980 (GRCm39)	missense	probably damaging	1.00
R8124:Tmem132d	UTSW	5	127,869,624 (GRCm39)	missense	probably damaging	1.00
R8543:Tmem132d	UTSW	5	128,345,799 (GRCm39)	missense	probably benign	0.00
R8694:Tmem132d	UTSW	5	127,869,495 (GRCm39)	missense	probably benign	0.06
R8936:Tmem132d	UTSW	5	127,869,676 (GRCm39)	missense	probably damaging	1.00
R9017:Tmem132d	UTSW	5	128,346,316 (GRCm39)	missense	probably benign	0.00
R9017:Tmem132d	UTSW	5	127,866,936 (GRCm39)	missense	probably benign	0.00
R9163:Tmem132d	UTSW	5	127,869,570 (GRCm39)	missense	possibly damaging	0.82
R9257:Tmem132d	UTSW	5	127,861,491 (GRCm39)	nonsense	probably null
R9645:Tmem132d	UTSW	5	128,346,075 (GRCm39)	missense	probably damaging	1.00
R9667:Tmem132d	UTSW	5	128,061,375 (GRCm39)	missense	possibly damaging	0.79
R9711:Tmem132d	UTSW	5	127,869,579 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GTTGAGCAATTCACCTGGCAG -3'
(R):5'- AGCCATAACTCTTTGGAGGTAGAC -3'

Sequencing Primer
(F):5'- GCAATTCACCTGGCAGAGCAG -3'
(R):5'- AGGTAGACTCACTGAGCCC -3'

Posted On

2015-02-05