Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01750:Tmem132c'

153109

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem132c

Ensembl Gene

ENSMUSG00000034324

Gene Name

transmembrane protein 132C

Synonyms

2810482M11Rik, 4632425D07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL01750

Quality Score

Status

Chromosome

Chromosomal Location

127318890-127642854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127540023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 350 (Q350K)

Ref Sequence

ENSEMBL: ENSMUSP00000113090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119026]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119026
AA Change: Q350K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: Q350K

Domain	Start	End	E-Value	Type
low complexity region	14	21	N/A	INTRINSIC
Pfam:TMEM132D_N	58	187	1.2e-54	PFAM
Pfam:TMEM132	444	787	4.5e-143	PFAM
Pfam:TMEM132D_C	892	980	2.4e-39	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,742,030 (GRCm39)	R616G	probably damaging	Het
Cacna1b	G	A	2: 24,544,407 (GRCm39)	P1260S	probably damaging	Het
Ccz1	A	T	5: 143,940,880 (GRCm39)	Y225N	probably damaging	Het
Col15a1	C	T	4: 47,303,897 (GRCm39)	P1101S	probably damaging	Het
Cyp2d22	T	A	15: 82,258,570 (GRCm39)	H97L	probably benign	Het
Emsy	G	A	7: 98,268,508 (GRCm39)	S511F	probably damaging	Het
Fnbp1l	G	T	3: 122,338,326 (GRCm39)	Y351*	probably null	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Hook2	T	C	8: 85,719,865 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,145,777 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Kmt2d	G	A	15: 98,751,049 (GRCm39)		probably benign	Het
Lpin1	T	C	12: 16,627,177 (GRCm39)	N123S	probably benign	Het
Man2c1	T	C	9: 57,048,064 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,922,465 (GRCm39)	E6558G	probably damaging	Het
Or2j6	T	C	7: 139,980,570 (GRCm39)	T130A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pitx1	A	G	13: 55,974,304 (GRCm39)	Y176H	probably damaging	Het
Plec	A	G	15: 76,057,589 (GRCm39)	V4116A	probably damaging	Het
Polrmt	A	G	10: 79,575,680 (GRCm39)	V617A	possibly damaging	Het
Pprc1	T	C	19: 46,060,268 (GRCm39)		probably benign	Het
Rbm19	G	A	5: 120,256,857 (GRCm39)	A57T	probably benign	Het
Rin1	T	C	19: 5,102,064 (GRCm39)	I134T	possibly damaging	Het
Thumpd2	G	A	17: 81,361,815 (GRCm39)	A137V	probably benign	Het
Tle4	T	C	19: 14,427,153 (GRCm39)	Y756C	probably damaging	Het
Tln1	A	G	4: 43,545,435 (GRCm39)	L986P	probably damaging	Het
Zfp474	A	G	18: 52,772,349 (GRCm39)	N334S	possibly damaging	Het

Other mutations in Tmem132c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Tmem132c	APN	5	127,640,306 (GRCm39)	missense	possibly damaging	0.95
IGL00985:Tmem132c	APN	5	127,581,930 (GRCm39)	missense	probably damaging	0.99
IGL01599:Tmem132c	APN	5	127,436,616 (GRCm39)	splice site	probably benign
IGL01893:Tmem132c	APN	5	127,540,093 (GRCm39)	missense	possibly damaging	0.51
IGL02143:Tmem132c	APN	5	127,640,466 (GRCm39)	missense	probably benign	0.03
IGL02164:Tmem132c	APN	5	127,613,441 (GRCm39)	missense	probably damaging	1.00
IGL02252:Tmem132c	APN	5	127,539,991 (GRCm39)	missense	possibly damaging	0.91
IGL02527:Tmem132c	APN	5	127,436,675 (GRCm39)	missense	possibly damaging	0.95
IGL02584:Tmem132c	APN	5	127,582,063 (GRCm39)	missense	probably damaging	1.00
IGL02878:Tmem132c	APN	5	127,640,154 (GRCm39)	missense	probably damaging	0.99
IGL03065:Tmem132c	APN	5	127,640,688 (GRCm39)	missense	probably damaging	1.00
IGL03120:Tmem132c	APN	5	127,640,448 (GRCm39)	missense	probably benign	0.06
IGL03380:Tmem132c	APN	5	127,613,506 (GRCm39)	missense	probably benign	0.00
IGL03387:Tmem132c	APN	5	127,640,784 (GRCm39)	missense	probably benign	0.00
R0106:Tmem132c	UTSW	5	127,631,733 (GRCm39)	missense	possibly damaging	0.94
R0106:Tmem132c	UTSW	5	127,631,733 (GRCm39)	missense	possibly damaging	0.94
R0415:Tmem132c	UTSW	5	127,640,769 (GRCm39)	missense	probably damaging	1.00
R0607:Tmem132c	UTSW	5	127,640,617 (GRCm39)	nonsense	probably null
R1413:Tmem132c	UTSW	5	127,640,631 (GRCm39)	missense	probably damaging	1.00
R1531:Tmem132c	UTSW	5	127,436,955 (GRCm39)	missense	probably damaging	1.00
R1648:Tmem132c	UTSW	5	127,540,120 (GRCm39)	splice site	probably benign
R2148:Tmem132c	UTSW	5	127,540,026 (GRCm39)	missense	probably damaging	1.00
R2149:Tmem132c	UTSW	5	127,540,026 (GRCm39)	missense	probably damaging	1.00
R2259:Tmem132c	UTSW	5	127,581,988 (GRCm39)	missense	probably benign	0.01
R3853:Tmem132c	UTSW	5	127,436,933 (GRCm39)	missense	probably benign	0.00
R4204:Tmem132c	UTSW	5	127,640,829 (GRCm39)	missense	possibly damaging	0.73
R4543:Tmem132c	UTSW	5	127,582,041 (GRCm39)	missense	probably benign	0.00
R4701:Tmem132c	UTSW	5	127,641,560 (GRCm39)	unclassified	probably benign
R5017:Tmem132c	UTSW	5	127,640,414 (GRCm39)	missense	probably benign	0.13
R5037:Tmem132c	UTSW	5	127,630,199 (GRCm39)	missense	probably benign	0.42
R5327:Tmem132c	UTSW	5	127,640,816 (GRCm39)	missense	possibly damaging	0.50
R5423:Tmem132c	UTSW	5	127,640,907 (GRCm39)	missense	probably benign	0.02
R5548:Tmem132c	UTSW	5	127,628,587 (GRCm39)	nonsense	probably null
R6425:Tmem132c	UTSW	5	127,630,329 (GRCm39)	missense	possibly damaging	0.95
R6717:Tmem132c	UTSW	5	127,641,093 (GRCm39)	missense	possibly damaging	0.93
R6899:Tmem132c	UTSW	5	127,628,744 (GRCm39)	missense	probably damaging	1.00
R7007:Tmem132c	UTSW	5	127,436,679 (GRCm39)	missense	probably damaging	1.00
R7297:Tmem132c	UTSW	5	127,437,281 (GRCm39)	missense	probably benign	0.06
R7326:Tmem132c	UTSW	5	127,641,123 (GRCm39)	missense	possibly damaging	0.51
R7386:Tmem132c	UTSW	5	127,640,990 (GRCm39)	missense	probably benign	0.16
R7504:Tmem132c	UTSW	5	127,631,696 (GRCm39)	missense	probably damaging	1.00
R7640:Tmem132c	UTSW	5	127,640,070 (GRCm39)	missense	probably damaging	1.00
R7718:Tmem132c	UTSW	5	127,640,504 (GRCm39)	missense	probably benign	0.06
R7762:Tmem132c	UTSW	5	127,631,760 (GRCm39)	missense	possibly damaging	0.90
R7818:Tmem132c	UTSW	5	127,641,152 (GRCm39)	makesense	probably null
R8117:Tmem132c	UTSW	5	127,437,176 (GRCm39)	missense	probably benign	0.22
R8425:Tmem132c	UTSW	5	127,641,421 (GRCm39)	missense
R8749:Tmem132c	UTSW	5	127,437,003 (GRCm39)	missense	possibly damaging	0.75
R8771:Tmem132c	UTSW	5	127,437,192 (GRCm39)	missense	probably benign	0.00
R8798:Tmem132c	UTSW	5	127,437,217 (GRCm39)	nonsense	probably null
R9372:Tmem132c	UTSW	5	127,640,145 (GRCm39)	missense	probably damaging	1.00
X0067:Tmem132c	UTSW	5	127,613,471 (GRCm39)	missense	possibly damaging	0.79
Z1088:Tmem132c	UTSW	5	127,581,985 (GRCm39)	missense	probably benign	0.14

Posted On

2014-02-04