Mutagenetix > Incidental Mutation

Incidental Mutation 'R4127:Tmem132d'

315434

Institutional Source

Beutler Lab

Gene Symbol

Tmem132d

Ensembl Gene

ENSMUSG00000034310

Gene Name

transmembrane protein 132D

Synonyms

C630028F04Rik

MMRRC Submission

040860-MU

Accession Numbers

Essential gene?

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

Stock #

R4127 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127860555-128510141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128345884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 213 (R213G)

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: R213G

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: R213G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200316

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,141,973 (GRCm39)	H3R	probably benign	Het
Actg2	A	T	6: 83,499,866 (GRCm39)	F128Y	possibly damaging	Het
Ankrd6	G	A	4: 32,822,241 (GRCm39)	T176M	probably damaging	Het
Atp6ap1l	T	C	13: 91,046,826 (GRCm39)	D117G	probably damaging	Het
Cd209b	A	G	8: 3,968,714 (GRCm39)	I284T	probably damaging	Het
Cfl2	C	T	12: 54,908,143 (GRCm39)	A123T	probably benign	Het
Cgnl1	T	C	9: 71,631,822 (GRCm39)	T510A	probably benign	Het
Chn2	G	T	6: 54,249,963 (GRCm39)	R24M	probably damaging	Het
Cyfip2	T	C	11: 46,161,474 (GRCm39)	I339V	probably benign	Het
Etl4	C	T	2: 20,748,886 (GRCm39)	P539L	possibly damaging	Het
Fras1	A	G	5: 96,918,512 (GRCm39)	D3516G	probably benign	Het
Frem2	T	C	3: 53,433,317 (GRCm39)	Y2669C	probably damaging	Het
Gga2	G	T	7: 121,601,943 (GRCm39)	H205N	probably damaging	Het
Gm5592	G	A	7: 40,938,491 (GRCm39)	G591D	probably benign	Het
Gtf3c1	A	T	7: 125,246,622 (GRCm39)	C1562*	probably null	Het
Heatr3	T	A	8: 88,864,939 (GRCm39)	C59S	probably damaging	Het
Heatr5b	A	G	17: 79,060,603 (GRCm39)	M2024T	possibly damaging	Het
Jarid2	T	C	13: 45,055,732 (GRCm39)	S313P	probably damaging	Het
Lzts3	A	G	2: 130,477,285 (GRCm39)	S502P	probably damaging	Het
Or5d36	A	G	2: 87,901,579 (GRCm39)	V49A	probably benign	Het
Pcdhb2	A	T	18: 37,428,594 (GRCm39)	D189V	probably damaging	Het
Pias3	G	T	3: 96,606,982 (GRCm39)	G82C	probably damaging	Het
Polg	T	C	7: 79,105,285 (GRCm39)	E753G	probably damaging	Het
Pus10	T	C	11: 23,668,654 (GRCm39)		probably null	Het
Pxn	A	G	5: 115,684,966 (GRCm39)	R264G	probably damaging	Het
Rag1	A	G	2: 101,472,416 (GRCm39)	Y909H	probably damaging	Het
Rell2	A	G	18: 38,091,267 (GRCm39)	H144R	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	C	T	13: 11,602,323 (GRCm39)	V4520I	possibly damaging	Het
Scp2	A	G	4: 107,921,181 (GRCm39)	F10L	probably benign	Het
Slc9b2	T	C	3: 135,035,598 (GRCm39)	Y356H	probably benign	Het
Sorcs1	T	C	19: 50,210,597 (GRCm39)	D756G	probably benign	Het
Stra6	T	A	9: 58,058,501 (GRCm39)	V454E	probably damaging	Het
Tbc1d8	T	C	1: 39,411,512 (GRCm39)	N1108S	probably benign	Het
Tep1	C	T	14: 51,081,191 (GRCm39)	R1349Q	possibly damaging	Het
Ubash3a	T	C	17: 31,456,249 (GRCm39)	Y506H	probably damaging	Het
Xcr1	A	C	9: 123,685,561 (GRCm39)	V67G	probably damaging	Het
Zranb2	C	A	3: 157,243,227 (GRCm39)	C74*	probably null	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
R3053:Tmem132d	UTSW	5	127,869,538 (GRCm39)	missense	probably benign	0.15
R3836:Tmem132d	UTSW	5	127,861,949 (GRCm39)	missense	probably damaging	1.00
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'- CGCTCCCAATTCTATGCAAAGG -3'
(R):5'- GGAGAAAGTCTACCTGAGCCATC -3'

Sequencing Primer
(F):5'- GGGGACTGGATTCATCAACATCATTG -3'
(R):5'- ATCCCAAAGTGCAGGTGCTC -3'

Posted On

2015-05-14