Mutagenetix > Incidental Mutation

Incidental Mutation 'R6540:Tmem132d'

520680

Institutional Source

Beutler Lab

Gene Symbol

Tmem132d

Ensembl Gene

ENSMUSG00000034310

Gene Name

transmembrane protein 132D

Synonyms

C630028F04Rik

MMRRC Submission

044666-MU

Accession Numbers

Essential gene?

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

Stock #

R6540 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127860555-128510141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128345596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 309 (S309P)

Ref Sequence

ENSEMBL: ENSMUSP00000043633 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044441
AA Change: S309P

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: S309P

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,660,779 (GRCm39)	Y143H	possibly damaging	Het
Aco1	G	A	4: 40,186,367 (GRCm39)	R593Q	probably benign	Het
Adamts2	T	C	11: 50,679,567 (GRCm39)	V849A	possibly damaging	Het
Ash1l	A	T	3: 88,892,368 (GRCm39)	T1416S	probably damaging	Het
Cdc5l	A	G	17: 45,737,570 (GRCm39)	W63R	probably damaging	Het
Cep95	T	A	11: 106,692,328 (GRCm39)	D169E	probably damaging	Het
Col14a1	A	C	15: 55,235,977 (GRCm39)	N297T	unknown	Het
Cp	T	C	3: 20,018,693 (GRCm39)		probably null	Het
Fbxl19	G	T	7: 127,347,525 (GRCm39)		probably benign	Het
Flnc	T	C	6: 29,446,376 (GRCm39)	V931A	possibly damaging	Het
Foxj2	A	G	6: 122,810,202 (GRCm39)	H187R	probably benign	Het
Hectd4	G	A	5: 121,441,634 (GRCm39)	V1199I	probably benign	Het
Ighv7-4	A	G	12: 114,186,470 (GRCm39)	Y101H	possibly damaging	Het
Igkv10-94	T	A	6: 68,681,507 (GRCm39)	Y111F	probably benign	Het
Lin28a	C	T	4: 133,745,372 (GRCm39)	V74M	possibly damaging	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mroh9	T	G	1: 162,866,541 (GRCm39)	T701P	possibly damaging	Het
Ndst4	A	T	3: 125,515,801 (GRCm39)	K309*	probably null	Het
Nlrp9a	T	C	7: 26,256,817 (GRCm39)	V145A	possibly damaging	Het
Or2l5	T	C	16: 19,333,571 (GRCm39)	I272V	probably benign	Het
Ovgp1	A	T	3: 105,893,897 (GRCm39)	K557*	probably null	Het
Pde4b	T	C	4: 102,459,073 (GRCm39)	L546P	probably damaging	Het
Pkd1	G	A	17: 24,794,951 (GRCm39)	V2213M	probably damaging	Het
Plekhh1	A	G	12: 79,111,263 (GRCm39)	I542V	probably benign	Het
Ppan	A	G	9: 20,802,506 (GRCm39)		probably null	Het
Prdm15	A	T	16: 97,637,005 (GRCm39)	V104E	probably benign	Het
Semp2l2a	A	C	8: 13,887,573 (GRCm39)	S173A	probably benign	Het
Sik3	A	G	9: 46,123,351 (GRCm39)	H1050R	probably benign	Het
Slc35d3	A	G	10: 19,725,086 (GRCm39)	F257L	possibly damaging	Het
Tfip11	A	G	5: 112,482,263 (GRCm39)		probably null	Het
Tmem87a	T	C	2: 120,234,400 (GRCm39)	I48V	probably benign	Het
V1rd19	T	A	7: 23,703,056 (GRCm39)	L174*	probably null	Het
Zfp729a	A	G	13: 67,767,767 (GRCm39)	C821R	possibly damaging	Het
Zfp970	C	A	2: 177,167,388 (GRCm39)	H321N	probably damaging	Het
Zzef1	T	C	11: 72,804,055 (GRCm39)	L2599P	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
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
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
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'- TCCATCATTCATCATTAAGCGGC -3'
(R):5'- TGTGCCAAGGAGGATTCGAG -3'

Sequencing Primer
(F):5'- GCGGCCAGCCAGAAATAC -3'
(R):5'- TACTCCAGCAGGCCACAATGATG -3'

Posted On

2018-06-06