Mutagenetix > Incidental Mutation

Incidental Mutation 'R1209:Tmem132d'

100587

Institutional Source

Beutler Lab

Gene Symbol

Tmem132d

Ensembl Gene

ENSMUSG00000034310

Gene Name

transmembrane protein 132D

Synonyms

C630028F04Rik

MMRRC Submission

039278-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R1209 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

127860555-128510141 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127861934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 729 (D729V)

Ref Sequence

ENSEMBL: ENSMUSP00000043633 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044441
AA Change: D729V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043633
Gene: ENSMUSG00000034310
AA Change: D729V

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: 99.1%
3x: 97.8%
10x: 94.2%
20x: 85.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,839,629 (GRCm39)	D180G	probably damaging	Het
Aopep	A	G	13: 63,338,878 (GRCm39)		probably null	Het
Banp	G	A	8: 122,702,656 (GRCm39)	V30I	possibly damaging	Het
Btn2a2	C	T	13: 23,664,736 (GRCm39)		probably null	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cdhr1	C	T	14: 36,804,899 (GRCm39)		probably null	Het
Cfap44	T	C	16: 44,242,780 (GRCm39)	I728T	possibly damaging	Het
Fbn2	A	G	18: 58,203,088 (GRCm39)	M1212T	probably benign	Het
Fmo3	C	T	1: 162,791,597 (GRCm39)	D227N	probably benign	Het
Klk1b5	G	T	7: 43,496,422 (GRCm39)	R118L	probably damaging	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Muc5b	A	G	7: 141,411,647 (GRCm39)	N1531S	unknown	Het
Mypn	A	G	10: 62,954,278 (GRCm39)	S1234P	probably damaging	Het
Nme5	A	G	18: 34,702,949 (GRCm39)	L113S	probably damaging	Het
Oprk1	T	C	1: 5,672,484 (GRCm39)	V207A	probably benign	Het
Or13a20	A	G	7: 140,231,927 (GRCm39)	T12A	probably benign	Het
Or4f52	T	C	2: 111,061,958 (GRCm39)	Y60C	probably damaging	Het
Otop2	A	G	11: 115,215,469 (GRCm39)	E130G	possibly damaging	Het
Pard6a	A	G	8: 106,429,023 (GRCm39)	K78R	probably benign	Het
Pbrm1	T	A	14: 30,840,809 (GRCm39)	L1637H	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rnaset2b	T	A	17: 7,246,475 (GRCm39)	C27S	probably benign	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Speer4a1	T	C	5: 26,240,123 (GRCm39)		probably null	Het
Srsf4	A	G	4: 131,628,370 (GRCm39)		probably benign	Het
Syt11	G	A	3: 88,655,147 (GRCm39)	R79C	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	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
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
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'- AGGTGTCCACTCTCACTGCTGTTG -3'
(R):5'- TGGTAAAGCATCTCGTGGCTTTCTC -3'

Sequencing Primer
(F):5'- GTCCAAATTTAACCTTGATGCTGG -3'
(R):5'- cacagacagagacagagacag -3'

Posted On

2014-01-15