Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Tmem132d'

193728

Institutional Source

Beutler Lab

Gene Symbol

Tmem132d

Ensembl Gene

ENSMUSG00000034310

Gene Name

transmembrane protein 132D

Synonyms

MMRRC Submission

039785-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127781630-128433077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127789855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 660 (E660D)

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: E660D

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: E660D

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352	S306G	probably damaging	Het
Adamts8	T	G	9: 30,954,614	I486S	probably benign	Het
Adgrg5	T	C	8: 94,942,052	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241		probably null	Het
Arhgap31	A	G	16: 38,601,612	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,302,354	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773		probably benign	Het
Cpb1	G	T	3: 20,266,241	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432		probably null	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,192,940	S13T	probably benign	Het
Ercc6	T	C	14: 32,576,999	V1448A	probably benign	Het
Esp24	A	G	17: 39,040,002	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461	M338K	probably benign	Het
Fgfbp1	A	C	5: 43,979,923	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267	C61G	probably damaging	Het
Herc1	T	C	9: 66,502,084		probably null	Het
Herc1	T	G	9: 66,469,010	C3371G	probably damaging	Het
Hmcn1	C	T	1: 150,586,468	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482		probably benign	Het
Kng1	A	T	16: 23,079,119	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489	Q1746L	possibly damaging	Het
Lrrc29	A	T	8: 105,313,192	V517E	probably damaging	Het
Lrrc63	A	T	14: 75,086,344		probably null	Het
Mad2l1	T	A	6: 66,539,813	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810	D244G	probably null	Het
Mstn	A	G	1: 53,066,558	Y353C	probably damaging	Het
Mx1	T	A	16: 97,454,158	N232Y	probably damaging	Het
Mycs	T	C	X: 5,468,103	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640		probably null	Het
Olfr1109	T	C	2: 87,093,227	T57A	probably damaging	Het
Olfr1143	T	A	2: 87,802,762	F124L	probably benign	Het
Olfr1410	G	A	1: 92,608,400	V188M	probably benign	Het
Olfr365	A	G	2: 37,201,427	Y62C	probably damaging	Het
Olfr577	T	C	7: 102,973,056	N312S	probably benign	Het
Pcdh17	A	T	14: 84,477,654	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691	C84*	probably null	Het
Pex1	A	T	5: 3,630,044	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,342,631	K489E	probably damaging	Het
Prob1	T	C	18: 35,653,252	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817		probably null	Het
Rnaset2b	G	A	17: 6,981,107		probably null	Het
S1pr1	A	G	3: 115,711,938	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621	M491T	probably benign	Het
Tars	G	A	15: 11,394,243	Q103*	probably null	Het
Ttn	T	C	2: 76,812,972	E13201G	probably damaging	Het
Ttn	T	A	2: 76,752,261	M22763L	probably benign	Het
Ttn	T	C	2: 76,745,043	T16842A	probably damaging	Het
Ubp1	A	T	9: 113,955,969	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105	W287R	probably benign	Het

Other mutations in Tmem132d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Tmem132d	APN	5	127,784,832 (GRCm38)	missense	possibly damaging	0.77
IGL01393:Tmem132d	APN	5	127,784,638 (GRCm38)	missense	probably benign	0.31
IGL01482:Tmem132d	APN	5	128,269,206 (GRCm38)	missense	probably damaging	0.96
IGL01785:Tmem132d	APN	5	127,984,315 (GRCm38)	missense	probably benign	0.00
IGL02409:Tmem132d	APN	5	127,784,888 (GRCm38)	missense	probably damaging	1.00
IGL02539:Tmem132d	APN	5	127,783,979 (GRCm38)	missense	probably benign	0.01
IGL03411:Tmem132d	APN	5	127,984,283 (GRCm38)	nonsense	probably null
R0113:Tmem132d	UTSW	5	127,784,593 (GRCm38)	missense	probably benign	0.11
R0420:Tmem132d	UTSW	5	127,864,646 (GRCm38)	missense	probably benign	0.26
R0437:Tmem132d	UTSW	5	127,789,785 (GRCm38)	missense	probably damaging	0.99
R0468:Tmem132d	UTSW	5	128,269,203 (GRCm38)	missense	probably damaging	1.00
R0564:Tmem132d	UTSW	5	127,784,778 (GRCm38)	missense	probably damaging	1.00
R0659:Tmem132d	UTSW	5	127,984,287 (GRCm38)	missense	possibly damaging	0.94
R0924:Tmem132d	UTSW	5	127,984,439 (GRCm38)	splice site	probably benign
R1209:Tmem132d	UTSW	5	127,784,870 (GRCm38)	missense	probably damaging	1.00
R1333:Tmem132d	UTSW	5	127,784,859 (GRCm38)	missense	probably benign
R1378:Tmem132d	UTSW	5	128,268,947 (GRCm38)	missense	probably benign	0.43
R1741:Tmem132d	UTSW	5	127,784,858 (GRCm38)	missense	probably benign	0.30
R1944:Tmem132d	UTSW	5	127,783,764 (GRCm38)	makesense	probably null
R1974:Tmem132d	UTSW	5	128,269,199 (GRCm38)	missense	probably damaging	0.99
R2035:Tmem132d	UTSW	5	127,792,458 (GRCm38)	missense	probably damaging	1.00
R2065:Tmem132d	UTSW	5	127,784,441 (GRCm38)	missense	probably benign
R2074:Tmem132d	UTSW	5	128,269,131 (GRCm38)	missense	probably damaging	1.00
R2276:Tmem132d	UTSW	5	127,795,923 (GRCm38)	missense	probably damaging	1.00
R2297:Tmem132d	UTSW	5	128,268,544 (GRCm38)	missense	possibly damaging	0.69
R2424:Tmem132d	UTSW	5	127,864,599 (GRCm38)	missense	probably benign	0.09
R2902:Tmem132d	UTSW	5	127,783,768 (GRCm38)	missense	probably benign
R3053:Tmem132d	UTSW	5	127,792,474 (GRCm38)	missense	probably benign	0.15
R3836:Tmem132d	UTSW	5	127,784,885 (GRCm38)	missense	probably damaging	1.00
R4127:Tmem132d	UTSW	5	128,268,820 (GRCm38)	missense	probably benign	0.35
R4236:Tmem132d	UTSW	5	128,432,325 (GRCm38)	missense	possibly damaging	0.89
R4358:Tmem132d	UTSW	5	127,984,341 (GRCm38)	missense	possibly damaging	0.92
R4610:Tmem132d	UTSW	5	127,984,296 (GRCm38)	missense	probably benign	0.29
R4686:Tmem132d	UTSW	5	127,792,610 (GRCm38)	missense	possibly damaging	0.55
R4814:Tmem132d	UTSW	5	127,984,264 (GRCm38)	missense	probably benign	0.01
R4883:Tmem132d	UTSW	5	128,269,302 (GRCm38)	missense	possibly damaging	0.79
R4883:Tmem132d	UTSW	5	128,269,300 (GRCm38)	missense	probably damaging	0.99
R4939:Tmem132d	UTSW	5	127,796,075 (GRCm38)	missense	probably damaging	1.00
R5579:Tmem132d	UTSW	5	127,796,000 (GRCm38)	missense	possibly damaging	0.67
R5652:Tmem132d	UTSW	5	127,784,795 (GRCm38)	missense	possibly damaging	0.88
R5801:Tmem132d	UTSW	5	127,784,900 (GRCm38)	missense	possibly damaging	0.50
R5900:Tmem132d	UTSW	5	128,269,272 (GRCm38)	missense	probably damaging	1.00
R5980:Tmem132d	UTSW	5	127,784,598 (GRCm38)	missense	probably benign	0.13
R6048:Tmem132d	UTSW	5	128,269,117 (GRCm38)	missense	probably benign	0.03
R6057:Tmem132d	UTSW	5	127,784,870 (GRCm38)	missense	probably damaging	1.00
R6084:Tmem132d	UTSW	5	127,784,100 (GRCm38)	missense	probably benign	0.06
R6505:Tmem132d	UTSW	5	127,784,438 (GRCm38)	missense	probably benign	0.00
R6522:Tmem132d	UTSW	5	127,783,768 (GRCm38)	missense	probably benign
R6540:Tmem132d	UTSW	5	128,268,532 (GRCm38)	missense	possibly damaging	0.87
R6717:Tmem132d	UTSW	5	127,784,421 (GRCm38)	missense	probably benign
R7158:Tmem132d	UTSW	5	128,137,019 (GRCm38)	missense	possibly damaging	0.81
R7287:Tmem132d	UTSW	5	127,984,351 (GRCm38)	missense	probably damaging	0.96
R7526:Tmem132d	UTSW	5	127,784,141 (GRCm38)	nonsense	probably null
R7826:Tmem132d	UTSW	5	127,789,889 (GRCm38)	missense	probably damaging	1.00
R7864:Tmem132d	UTSW	5	127,783,916 (GRCm38)	missense	probably damaging	1.00
R8124:Tmem132d	UTSW	5	127,792,560 (GRCm38)	missense	probably damaging	1.00
R8543:Tmem132d	UTSW	5	128,268,735 (GRCm38)	missense	probably benign	0.00
R8694:Tmem132d	UTSW	5	127,792,431 (GRCm38)	missense	probably benign	0.06
R8936:Tmem132d	UTSW	5	127,792,612 (GRCm38)	missense	probably damaging	1.00
R9017:Tmem132d	UTSW	5	128,269,252 (GRCm38)	missense	probably benign	0.00
R9017:Tmem132d	UTSW	5	127,789,872 (GRCm38)	missense	probably benign	0.00
R9163:Tmem132d	UTSW	5	127,792,506 (GRCm38)	missense	possibly damaging	0.82
R9257:Tmem132d	UTSW	5	127,784,427 (GRCm38)	nonsense	probably null
R9645:Tmem132d	UTSW	5	128,269,011 (GRCm38)	missense	probably damaging	1.00
R9667:Tmem132d	UTSW	5	127,984,311 (GRCm38)	missense	possibly damaging	0.79
R9711:Tmem132d	UTSW	5	127,792,515 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCTGGTGGATACTGACCTCACCTG -3'
(R):5'- TTTAAGAGGAAGCCTGCTTACGCTC -3'

Sequencing Primer
(F):5'- GATCTCACTTGGAGTAAGACTCAGC -3'
(R):5'- AATGCTGTGACCACAGAGAGC -3'

Posted On

2014-05-23