Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Tmem132c'

597927

Institutional Source

Beutler Lab

Gene Symbol

Tmem132c

Ensembl Gene

ENSMUSG00000034324

Gene Name

transmembrane protein 132C

Synonyms

2810482M11Rik, 4632425D07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127241808-127565793 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127554696 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 673 (V673A)

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: V673A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: V673A

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

SMART Domains

Protein: ENSMUSP00000121783
Gene: ENSMUSG00000034324
AA Change: V55A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	probably benign	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
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
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'- TGTTCAGGACTTCTGGCCTATC -3'
(R):5'- TTCTGTGTGACCTGAGCACTTG -3'

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

Posted On

2019-11-26