Mutagenetix > Incidental Mutation

Incidental Mutation 'R6717:Tmem132d'

529428

Institutional Source

Beutler Lab

Gene Symbol

Tmem132d

Ensembl Gene

ENSMUSG00000034310

Gene Name

transmembrane protein 132D

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127781630-128433077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127784421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 879 (M879L)

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: M879L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: M879L

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	T	5: 4,064,086	L3122F	probably damaging	Het
Atp6v1b1	A	T	6: 83,753,650		probably null	Het
Ccdc178	A	T	18: 22,020,889	V621E	probably damaging	Het
Cfap126	T	C	1: 171,114,102		probably null	Het
Cog2	T	C	8: 124,525,749	I64T	probably damaging	Het
Dhx9	A	C	1: 153,473,464		probably null	Het
Efcab7	A	G	4: 99,904,734	D407G	possibly damaging	Het
Eif2b5	G	T	16: 20,505,283	G459C	probably damaging	Het
Eml5	T	C	12: 98,827,506	E1168G	probably damaging	Het
Flnc	AGCTGTCAAGTATGCTG	AGCTG	6: 29,450,902		probably benign	Het
Fry	A	G	5: 150,496,312	T980A	probably benign	Het
Gabbr2	A	G	4: 46,787,574	V363A	possibly damaging	Het
Ggt6	T	A	11: 72,437,520	L244*	probably null	Het
Gm13119	G	T	4: 144,362,657	V182L	probably benign	Het
Gprc6a	T	A	10: 51,615,137	I768F	probably damaging	Het
Grk1	G	A	8: 13,416,237	M560I	probably benign	Het
Hapln4	G	A	8: 70,085,090	E145K	probably damaging	Het
Hoxd9	C	T	2: 74,698,389	P112S	probably benign	Het
Ly6g6f	T	A	17: 35,085,574	M1L	probably benign	Het
Mast1	T	C	8: 84,917,754	T849A	probably benign	Het
Mob4	A	T	1: 55,136,713	M39L	possibly damaging	Het
Mrgpre	A	T	7: 143,781,523	L81Q	probably damaging	Het
Mst1	T	C	9: 108,080,575		probably null	Het
Muc5b	A	T	7: 141,857,822	R1502*	probably null	Het
Olfr1020	T	A	2: 85,850,223	I257N	probably damaging	Het
Olfr142	T	A	2: 90,252,524	I155L	probably benign	Het
Olfr311	T	C	11: 58,841,287	Y58H	probably damaging	Het
Pdc	A	G	1: 150,333,018	D84G	probably damaging	Het
Peak1	T	C	9: 56,207,239	N443D	probably benign	Het
Pkd1l3	T	A	8: 109,614,769	W85R	unknown	Het
Rfc1	G	A	5: 65,302,004	Q190*	probably null	Het
Rfc1	A	G	5: 65,312,961	S68P	probably damaging	Het
Rnf145	T	C	11: 44,561,490	V432A	probably benign	Het
Ror2	A	G	13: 53,118,982	S204P	probably damaging	Het
Scn1a	T	C	2: 66,332,287	E205G	probably damaging	Het
Slc2a8	A	C	2: 32,976,177	M277R	probably damaging	Het
Slc4a1	T	C	11: 102,354,423	Y566C	probably damaging	Het
Slc6a12	A	G	6: 121,354,303	N185S	probably benign	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stk33	T	A	7: 109,327,616	T279S	possibly damaging	Het
Taok3	A	G	5: 117,240,950		probably benign	Het
Tlr11	A	G	14: 50,362,104	T516A	probably benign	Het
Tmem132c	T	A	5: 127,564,029	L1088Q	possibly damaging	Het
Tnk2	A	G	16: 32,670,869	E322G	probably damaging	Het
Ttc28	T	C	5: 111,285,436	V2081A	probably benign	Het
Ttn	C	T	2: 76,794,409		probably null	Het
Zfp105	T	C	9: 122,930,308	V348A	possibly damaging	Het
Zswim2	T	C	2: 83,915,409	R562G	probably benign	Het

Other mutations in Tmem132d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Tmem132d	APN	5	127784832	missense	possibly damaging	0.77
IGL01393:Tmem132d	APN	5	127784638	missense	probably benign	0.31
IGL01482:Tmem132d	APN	5	128269206	missense	probably damaging	0.96
IGL01785:Tmem132d	APN	5	127984315	missense	probably benign	0.00
IGL02409:Tmem132d	APN	5	127784888	missense	probably damaging	1.00
IGL02539:Tmem132d	APN	5	127783979	missense	probably benign	0.01
IGL03411:Tmem132d	APN	5	127984283	nonsense	probably null
R0113:Tmem132d	UTSW	5	127784593	missense	probably benign	0.11
R0420:Tmem132d	UTSW	5	127864646	missense	probably benign	0.26
R0437:Tmem132d	UTSW	5	127789785	missense	probably damaging	0.99
R0468:Tmem132d	UTSW	5	128269203	missense	probably damaging	1.00
R0564:Tmem132d	UTSW	5	127784778	missense	probably damaging	1.00
R0659:Tmem132d	UTSW	5	127984287	missense	possibly damaging	0.94
R0924:Tmem132d	UTSW	5	127984439	splice site	probably benign
R1209:Tmem132d	UTSW	5	127784870	missense	probably damaging	1.00
R1333:Tmem132d	UTSW	5	127784859	missense	probably benign
R1378:Tmem132d	UTSW	5	128268947	missense	probably benign	0.43
R1741:Tmem132d	UTSW	5	127784858	missense	probably benign	0.30
R1753:Tmem132d	UTSW	5	127789855	missense	probably benign	0.02
R1944:Tmem132d	UTSW	5	127783764	makesense	probably null
R1974:Tmem132d	UTSW	5	128269199	missense	probably damaging	0.99
R2035:Tmem132d	UTSW	5	127792458	missense	probably damaging	1.00
R2065:Tmem132d	UTSW	5	127784441	missense	probably benign
R2074:Tmem132d	UTSW	5	128269131	missense	probably damaging	1.00
R2276:Tmem132d	UTSW	5	127795923	missense	probably damaging	1.00
R2297:Tmem132d	UTSW	5	128268544	missense	possibly damaging	0.69
R2424:Tmem132d	UTSW	5	127864599	missense	probably benign	0.09
R2902:Tmem132d	UTSW	5	127783768	missense	probably benign
R3053:Tmem132d	UTSW	5	127792474	missense	probably benign	0.15
R3836:Tmem132d	UTSW	5	127784885	missense	probably damaging	1.00
R4127:Tmem132d	UTSW	5	128268820	missense	probably benign	0.35
R4236:Tmem132d	UTSW	5	128432325	missense	possibly damaging	0.89
R4358:Tmem132d	UTSW	5	127984341	missense	possibly damaging	0.92
R4610:Tmem132d	UTSW	5	127984296	missense	probably benign	0.29
R4686:Tmem132d	UTSW	5	127792610	missense	possibly damaging	0.55
R4814:Tmem132d	UTSW	5	127984264	missense	probably benign	0.01
R4883:Tmem132d	UTSW	5	128269300	missense	probably damaging	0.99
R4883:Tmem132d	UTSW	5	128269302	missense	possibly damaging	0.79
R4939:Tmem132d	UTSW	5	127796075	missense	probably damaging	1.00
R5579:Tmem132d	UTSW	5	127796000	missense	possibly damaging	0.67
R5652:Tmem132d	UTSW	5	127784795	missense	possibly damaging	0.88
R5801:Tmem132d	UTSW	5	127784900	missense	possibly damaging	0.50
R5900:Tmem132d	UTSW	5	128269272	missense	probably damaging	1.00
R5980:Tmem132d	UTSW	5	127784598	missense	probably benign	0.13
R6048:Tmem132d	UTSW	5	128269117	missense	probably benign	0.03
R6057:Tmem132d	UTSW	5	127784870	missense	probably damaging	1.00
R6084:Tmem132d	UTSW	5	127784100	missense	probably benign	0.06
R6505:Tmem132d	UTSW	5	127784438	missense	probably benign	0.00
R6522:Tmem132d	UTSW	5	127783768	missense	probably benign
R6540:Tmem132d	UTSW	5	128268532	missense	possibly damaging	0.87
R7158:Tmem132d	UTSW	5	128137019	missense	possibly damaging	0.81
R7287:Tmem132d	UTSW	5	127984351	missense	probably damaging	0.96
R7526:Tmem132d	UTSW	5	127784141	nonsense	probably null
R7826:Tmem132d	UTSW	5	127789889	missense	probably damaging	1.00
R7864:Tmem132d	UTSW	5	127783916	missense	probably damaging	1.00
R8124:Tmem132d	UTSW	5	127792560	missense	probably damaging	1.00
R8543:Tmem132d	UTSW	5	128268735	missense	probably benign	0.00
R8694:Tmem132d	UTSW	5	127792431	missense	probably benign	0.06
R8936:Tmem132d	UTSW	5	127792612	missense	probably damaging	1.00
R9017:Tmem132d	UTSW	5	127789872	missense	probably benign	0.00
R9017:Tmem132d	UTSW	5	128269252	missense	probably benign	0.00
R9163:Tmem132d	UTSW	5	127792506	missense	possibly damaging	0.82
R9257:Tmem132d	UTSW	5	127784427	nonsense	probably null
R9645:Tmem132d	UTSW	5	128269011	missense	probably damaging	1.00
R9667:Tmem132d	UTSW	5	127984311	missense	possibly damaging	0.79
R9711:Tmem132d	UTSW	5	127792515	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTCAGGGCAAAAGTCACACAG -3'
(R):5'- AGTGAGAGTGGACACCTTGG -3'

Sequencing Primer
(F):5'- GGCAAAAGTCACACAGTTAATTAAG -3'
(R):5'- GCTGGGCTTCATGTAGAGAATATC -3'

Posted On

2018-08-01