Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Tmem132c'

93727

Institutional Source

Beutler Lab

Gene Symbol

Tmem132c

Ensembl Gene

ENSMUSG00000034324

Gene Name

transmembrane protein 132C

Synonyms

2810482M11Rik, 4632425D07Rik

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

127241808-127565793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127554669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 664 (V664A)

Ref Sequence

ENSEMBL: ENSMUSP00000113090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119026]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119026
AA Change: V664A

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: V664A

Domain	Start	End	E-Value	Type
low complexity region	14	21	N/A	INTRINSIC
Pfam:TMEM132D_N	58	187	1.2e-54	PFAM
Pfam:TMEM132	444	787	4.5e-143	PFAM
Pfam:TMEM132D_C	892	980	2.4e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132592

Predicted Effect

unknown
Transcript: ENSMUST00000145748
AA Change: V46A

SMART Domains

Protein: ENSMUSP00000121783
Gene: ENSMUSG00000034324
AA Change: V46A

Domain	Start	End	E-Value	Type
Pfam:TMEM132	1	112	6.2e-31	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	T	12: 112,415,194		noncoding transcript	Het
Abcb9	T	C	5: 124,083,060	N276S	possibly damaging	Het
Arhgef25	A	G	10: 127,184,010		probably null	Het
Asic4	T	C	1: 75,451,127	V99A	probably benign	Het
Aspm	C	A	1: 139,476,876	Q1315K	probably benign	Het
B3galnt2	T	C	13: 13,995,793	S243P	probably benign	Het
BC055324	T	C	1: 163,982,811		probably benign	Het
Brf1	A	G	12: 112,973,463		probably benign	Het
Card19	A	C	13: 49,208,145	D3E	probably benign	Het
Chd6	A	G	2: 160,967,902	F1480L	probably damaging	Het
Ckap5	T	C	2: 91,578,205	I915T	possibly damaging	Het
Ckap5	T	A	2: 91,615,840	I1836N	probably damaging	Het
Cpb1	T	C	3: 20,266,533		probably null	Het
Cramp1l	A	G	17: 24,972,376	V1037A	probably benign	Het
Cspg5	C	A	9: 110,246,532	P112Q	probably damaging	Het
Cyp2g1	T	A	7: 26,814,182	I182N	probably damaging	Het
Dscc1	C	A	15: 55,083,570	C253F	probably benign	Het
Dysf	C	A	6: 84,113,336	F956L	probably benign	Het
Ephb6	T	C	6: 41,619,594		probably benign	Het
Fkbp6	C	T	5: 135,340,004	R234Q	probably benign	Het
Gda	T	C	19: 21,397,556	D332G	probably benign	Het
Ggt7	C	T	2: 155,494,893	A560T	possibly damaging	Het
Glis3	A	T	19: 28,531,868	S239T	possibly damaging	Het
Gm10845	T	A	14: 79,863,204		noncoding transcript	Het
H2-M5	A	G	17: 36,989,142	F47L	possibly damaging	Het
Hsdl1	T	A	8: 119,565,778	S254C	probably damaging	Het
Igsf6	T	A	7: 121,074,454	I18F	probably benign	Het
Immt	A	G	6: 71,851,844	S128G	probably benign	Het
Isy1	G	A	6: 87,819,185	R257W	probably damaging	Het
Kif13a	G	T	13: 46,825,347		probably benign	Het
Kif14	T	C	1: 136,479,924		probably benign	Het
L2hgdh	A	T	12: 69,705,789	Y239*	probably null	Het
Lama3	T	C	18: 12,403,982	V228A	probably damaging	Het
Lamp1	A	G	8: 13,174,550	T405A	probably damaging	Het
Lpin1	A	T	12: 16,540,979	N817K	possibly damaging	Het
Luzp1	A	G	4: 136,542,685	K740E	probably damaging	Het
Mapk12	T	C	15: 89,132,984		probably benign	Het
Mdga2	A	T	12: 66,716,706	N205K	probably damaging	Het
Myo1a	A	G	10: 127,719,880	I913V	probably benign	Het
Nat10	A	G	2: 103,757,205	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,925,322	E317G	possibly damaging	Het
Nomo1	T	C	7: 46,037,632	I72T	probably damaging	Het
Olfr1450	A	G	19: 12,954,356	I256V	probably benign	Het
Olfr974	GC	G	9: 39,942,823		probably null	Het
Pappa2	C	T	1: 158,714,977	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 100,250,373	M65V	probably benign	Het
Plec	C	T	15: 76,176,318	E3162K	probably damaging	Het
Pnisr	T	C	4: 21,874,617		probably benign	Het
Pop7	A	G	5: 137,501,649	*141Q	probably null	Het
Prss34	A	T	17: 25,298,726	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,976,418		probably benign	Het
Pygb	A	G	2: 150,806,203	D119G	probably benign	Het
Racgap1	T	C	15: 99,642,958	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,435,744	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,803	V705L	probably benign	Het
Rgs1	C	T	1: 144,248,549	V50M	probably benign	Het
Rgs12	C	T	5: 34,966,664	T597I	probably benign	Het
Ros1	T	C	10: 52,142,267	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,473,200	R58G	probably damaging	Het
Scube2	A	G	7: 109,846,908		probably benign	Het
Serpinb10	T	A	1: 107,546,744	L212Q	probably damaging	Het
Slc6a7	A	G	18: 61,002,223	V411A	probably benign	Het
Slco1a6	A	T	6: 142,157,390		probably benign	Het
Smc1b	A	T	15: 85,070,819	D1077E	probably damaging	Het
Srek1	G	A	13: 103,743,623	H476Y	unknown	Het
Strn3	A	G	12: 51,621,788	V673A	probably benign	Het
Tepsin	T	C	11: 120,091,811		probably null	Het
Timmdc1	A	C	16: 38,522,362	L58R	probably damaging	Het
Tmem241	A	T	18: 12,106,009		probably benign	Het
Tmprss15	T	C	16: 79,003,389	D602G	probably damaging	Het
Trbv15	T	C	6: 41,141,265		probably benign	Het
Wdr70	A	T	15: 8,019,587		probably null	Het

Other mutations in Tmem132c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Tmem132c	APN	5	127563242	missense	possibly damaging	0.95
IGL00985:Tmem132c	APN	5	127504866	missense	probably damaging	0.99
IGL01599:Tmem132c	APN	5	127359552	splice site	probably benign
IGL01750:Tmem132c	APN	5	127462959	missense	possibly damaging	0.91
IGL01893:Tmem132c	APN	5	127463029	missense	possibly damaging	0.51
IGL02143:Tmem132c	APN	5	127563402	missense	probably benign	0.03
IGL02164:Tmem132c	APN	5	127536377	missense	probably damaging	1.00
IGL02252:Tmem132c	APN	5	127462927	missense	possibly damaging	0.91
IGL02527:Tmem132c	APN	5	127359611	missense	possibly damaging	0.95
IGL02584:Tmem132c	APN	5	127504999	missense	probably damaging	1.00
IGL02878:Tmem132c	APN	5	127563090	missense	probably damaging	0.99
IGL03065:Tmem132c	APN	5	127563624	missense	probably damaging	1.00
IGL03120:Tmem132c	APN	5	127563384	missense	probably benign	0.06
IGL03380:Tmem132c	APN	5	127536442	missense	probably benign	0.00
IGL03387:Tmem132c	APN	5	127563720	missense	probably benign	0.00
R0106:Tmem132c	UTSW	5	127554669	missense	possibly damaging	0.94
R0415:Tmem132c	UTSW	5	127563705	missense	probably damaging	1.00
R0607:Tmem132c	UTSW	5	127563553	nonsense	probably null
R1413:Tmem132c	UTSW	5	127563567	missense	probably damaging	1.00
R1531:Tmem132c	UTSW	5	127359891	missense	probably damaging	1.00
R1648:Tmem132c	UTSW	5	127463056	splice site	probably benign
R2148:Tmem132c	UTSW	5	127462962	missense	probably damaging	1.00
R2149:Tmem132c	UTSW	5	127462962	missense	probably damaging	1.00
R2259:Tmem132c	UTSW	5	127504924	missense	probably benign	0.01
R3853:Tmem132c	UTSW	5	127359869	missense	probably benign	0.00
R4204:Tmem132c	UTSW	5	127563765	missense	possibly damaging	0.73
R4543:Tmem132c	UTSW	5	127504977	missense	probably benign	0.00
R4701:Tmem132c	UTSW	5	127564496	unclassified	probably benign
R5017:Tmem132c	UTSW	5	127563350	missense	probably benign	0.13
R5037:Tmem132c	UTSW	5	127553135	missense	probably benign	0.42
R5327:Tmem132c	UTSW	5	127563752	missense	possibly damaging	0.50
R5423:Tmem132c	UTSW	5	127563843	missense	probably benign	0.02
R5548:Tmem132c	UTSW	5	127551523	nonsense	probably null
R6425:Tmem132c	UTSW	5	127553265	missense	possibly damaging	0.95
R6717:Tmem132c	UTSW	5	127564029	missense	possibly damaging	0.93
R6899:Tmem132c	UTSW	5	127551680	missense	probably damaging	1.00
R7007:Tmem132c	UTSW	5	127359615	missense	probably damaging	1.00
R7297:Tmem132c	UTSW	5	127360217	missense	probably benign	0.06
R7326:Tmem132c	UTSW	5	127564059	missense	possibly damaging	0.51
R7386:Tmem132c	UTSW	5	127563926	missense	probably benign	0.16
R7504:Tmem132c	UTSW	5	127554632	missense	probably damaging	1.00
R7640:Tmem132c	UTSW	5	127563006	missense	probably damaging	1.00
R7718:Tmem132c	UTSW	5	127563440	missense	probably benign	0.06
R7762:Tmem132c	UTSW	5	127554696	missense	possibly damaging	0.90
R7818:Tmem132c	UTSW	5	127564088	makesense	probably null
R8117:Tmem132c	UTSW	5	127360112	missense	probably benign	0.22
R8425:Tmem132c	UTSW	5	127564357	missense
R8749:Tmem132c	UTSW	5	127359939	missense	possibly damaging	0.75
R8771:Tmem132c	UTSW	5	127360128	missense	probably benign	0.00
R8798:Tmem132c	UTSW	5	127360153	nonsense	probably null
R9372:Tmem132c	UTSW	5	127563081	missense	probably damaging	1.00
X0067:Tmem132c	UTSW	5	127536407	missense	possibly damaging	0.79
Z1088:Tmem132c	UTSW	5	127504921	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AACAGTGATGGAAGCCCATGCC -3'
(R):5'- GAGCACTTGTAGCTCCTGTAACCC -3'

Sequencing Primer
(F):5'- CTCCCTACACTCTATGTTCAGG -3'
(R):5'- GTAGCTCCTGTAACCCTGAAC -3'

Posted On

2014-01-02