Mutagenetix > Incidental Mutation

Incidental Mutation 'R8117:Tmem132c'

631266

Institutional Source

Beutler Lab

Gene Symbol

Tmem132c

Ensembl Gene

ENSMUSG00000034324

Gene Name

transmembrane protein 132C

Synonyms

2810482M11Rik, 4632425D07Rik

MMRRC Submission

067546-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R8117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127318890-127642854 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127437176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 222 (R222G)

Ref Sequence

ENSEMBL: ENSMUSP00000113090 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000119026
AA Change: R222G

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113090
Gene: ENSMUSG00000034324
AA Change: R222G

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

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.5%
20x: 94.4%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,058,078 (GRCm39)	T14A		Het
2610008E11Rik	T	C	10: 78,930,289 (GRCm39)	N42D	probably benign	Het
Ajm1	A	G	2: 25,469,246 (GRCm39)	F222L	probably benign	Het
Ankrd54	T	A	15: 78,939,641 (GRCm39)	M183L		Het
Apob	G	A	12: 8,056,435 (GRCm39)	G1639D	probably damaging	Het
B3gat2	A	G	1: 23,884,061 (GRCm39)	T283A	probably benign	Het
Bmpr2	T	G	1: 59,886,252 (GRCm39)	S296R	probably damaging	Het
Cand1	G	A	10: 119,042,721 (GRCm39)	T1123I	probably damaging	Het
Cc2d2a	T	C	5: 43,869,781 (GRCm39)	F943S	probably damaging	Het
Ccdc40	T	C	11: 119,144,211 (GRCm39)	I912T	probably benign	Het
Cdkn2d	G	A	9: 21,200,447 (GRCm39)	S108L	probably benign	Het
Cep295	G	A	9: 15,245,660 (GRCm39)	T932I	probably damaging	Het
Cntn5	A	G	9: 9,673,955 (GRCm39)	S716P	probably benign	Het
Col18a1	T	C	10: 76,895,808 (GRCm39)	E903G	probably benign	Het
Ctrc	T	A	4: 141,565,972 (GRCm39)	I229F	probably damaging	Het
Cyb561d2	C	T	9: 107,418,771 (GRCm39)	A18T	probably benign	Het
Dnajb4	T	A	3: 151,899,089 (GRCm39)	K46*	probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg1c	C	T	18: 20,410,016 (GRCm39)	H495Y	probably benign	Het
Eif2b3	A	G	4: 116,879,414 (GRCm39)	D18G	probably damaging	Het
Enam	A	T	5: 88,651,385 (GRCm39)	I965L	probably benign	Het
Fhod3	T	A	18: 25,248,910 (GRCm39)	I1363K	probably damaging	Het
Fras1	A	G	5: 96,855,245 (GRCm39)	Y1918C	probably damaging	Het
Fsip2	T	A	2: 82,823,296 (GRCm39)	I6343N	possibly damaging	Het
Gpr45	G	C	1: 43,072,475 (GRCm39)	V373L	probably damaging	Het
Hdac2	G	T	10: 36,873,966 (GRCm39)	Q365H	probably damaging	Het
Hspa12b	A	G	2: 130,980,389 (GRCm39)	T103A	possibly damaging	Het
Ifrd1	A	T	12: 40,262,350 (GRCm39)	S287T	probably benign	Het
Igkv6-15	G	A	6: 70,383,622 (GRCm39)	P60S	possibly damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kctd19	T	A	8: 106,122,069 (GRCm39)	D109V	unknown	Het
Matn4	G	A	2: 164,234,851 (GRCm39)	S540L	probably damaging	Het
Matn4	T	C	2: 164,241,682 (GRCm39)	K248E	probably benign	Het
Muc16	G	A	9: 18,420,206 (GRCm39)	Q97*	probably null	Het
Mup18	A	G	4: 61,592,238 (GRCm39)	C9R	unknown	Het
Myh1	A	G	11: 67,113,031 (GRCm39)	K1845R	probably damaging	Het
Mysm1	G	A	4: 94,848,627 (GRCm39)	R469*	probably null	Het
Naip1	T	C	13: 100,563,509 (GRCm39)	D552G	possibly damaging	Het
Nrcam	A	G	12: 44,618,371 (GRCm39)	D787G	probably benign	Het
Nrcam	G	A	12: 44,645,365 (GRCm39)	V1256I	probably damaging	Het
Obscn	G	T	11: 58,932,980 (GRCm39)	H4799N	possibly damaging	Het
Or1f12	T	C	13: 21,722,122 (GRCm39)	K3E	probably benign	Het
Or4p4	A	G	2: 88,482,729 (GRCm39)	K78E	probably damaging	Het
Or52e18	T	C	7: 104,609,356 (GRCm39)	I194M	probably damaging	Het
Or7g22	A	G	9: 19,048,353 (GRCm39)	I21M	probably benign	Het
Pcdhgb5	T	C	18: 37,866,302 (GRCm39)	F699S	probably damaging	Het
Phtf2	T	C	5: 21,007,038 (GRCm39)	E175G	probably benign	Het
Pira1	G	A	7: 3,740,075 (GRCm39)	T340I	probably damaging	Het
Ppp2r5c	A	G	12: 110,517,519 (GRCm39)	H218R	possibly damaging	Het
Ptgs2	A	G	1: 149,979,785 (GRCm39)	R297G	probably damaging	Het
Rapgef3	A	T	15: 97,648,747 (GRCm39)	D619E	probably benign	Het
Ric1	G	A	19: 29,552,191 (GRCm39)	V321I	probably benign	Het
Ripor1	T	C	8: 106,344,105 (GRCm39)	V413A	probably damaging	Het
Rsf1	G	T	7: 97,288,464 (GRCm39)		probably null	Het
Sccpdh	A	G	1: 179,504,017 (GRCm39)	D122G	probably damaging	Het
Sec16a	A	T	2: 26,331,441 (GRCm39)	H191Q	probably benign	Het
Slco1a5	G	T	6: 142,208,418 (GRCm39)	N124K	probably damaging	Het
Snrnp200	A	G	2: 127,071,051 (GRCm39)	T1111A	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Tanc2	T	A	11: 105,725,988 (GRCm39)	V384E	probably damaging	Het
Tbrg1	A	G	9: 37,568,296 (GRCm39)	F49L	possibly damaging	Het
Tecta	A	G	9: 42,288,927 (GRCm39)	F546S	probably damaging	Het
Trub2	C	T	2: 29,668,739 (GRCm39)		probably null	Het
Tti1	G	T	2: 157,849,418 (GRCm39)	P607Q	probably damaging	Het
Vmn1r62	T	A	7: 5,678,726 (GRCm39)	F136I	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,469 (GRCm39)	H179L	probably benign	Het
Wdfy4	A	T	14: 32,699,063 (GRCm39)	C2703*	probably null	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wipf3	A	G	6: 54,460,816 (GRCm39)	K88R	probably benign	Het
Zfp641	C	T	15: 98,186,856 (GRCm39)	G256R	probably damaging	Het
Zfp993	T	A	4: 146,741,972 (GRCm39)	C99S	probably benign	Het

Other mutations in Tmem132c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00869:Tmem132c	APN	5	127,640,306 (GRCm39)	missense	possibly damaging	0.95
IGL00985:Tmem132c	APN	5	127,581,930 (GRCm39)	missense	probably damaging	0.99
IGL01599:Tmem132c	APN	5	127,436,616 (GRCm39)	splice site	probably benign
IGL01750:Tmem132c	APN	5	127,540,023 (GRCm39)	missense	possibly damaging	0.91
IGL01893:Tmem132c	APN	5	127,540,093 (GRCm39)	missense	possibly damaging	0.51
IGL02143:Tmem132c	APN	5	127,640,466 (GRCm39)	missense	probably benign	0.03
IGL02164:Tmem132c	APN	5	127,613,441 (GRCm39)	missense	probably damaging	1.00
IGL02252:Tmem132c	APN	5	127,539,991 (GRCm39)	missense	possibly damaging	0.91
IGL02527:Tmem132c	APN	5	127,436,675 (GRCm39)	missense	possibly damaging	0.95
IGL02584:Tmem132c	APN	5	127,582,063 (GRCm39)	missense	probably damaging	1.00
IGL02878:Tmem132c	APN	5	127,640,154 (GRCm39)	missense	probably damaging	0.99
IGL03065:Tmem132c	APN	5	127,640,688 (GRCm39)	missense	probably damaging	1.00
IGL03120:Tmem132c	APN	5	127,640,448 (GRCm39)	missense	probably benign	0.06
IGL03380:Tmem132c	APN	5	127,613,506 (GRCm39)	missense	probably benign	0.00
IGL03387:Tmem132c	APN	5	127,640,784 (GRCm39)	missense	probably benign	0.00
R0106:Tmem132c	UTSW	5	127,631,733 (GRCm39)	missense	possibly damaging	0.94
R0106:Tmem132c	UTSW	5	127,631,733 (GRCm39)	missense	possibly damaging	0.94
R0415:Tmem132c	UTSW	5	127,640,769 (GRCm39)	missense	probably damaging	1.00
R0607:Tmem132c	UTSW	5	127,640,617 (GRCm39)	nonsense	probably null
R1413:Tmem132c	UTSW	5	127,640,631 (GRCm39)	missense	probably damaging	1.00
R1531:Tmem132c	UTSW	5	127,436,955 (GRCm39)	missense	probably damaging	1.00
R1648:Tmem132c	UTSW	5	127,540,120 (GRCm39)	splice site	probably benign
R2148:Tmem132c	UTSW	5	127,540,026 (GRCm39)	missense	probably damaging	1.00
R2149:Tmem132c	UTSW	5	127,540,026 (GRCm39)	missense	probably damaging	1.00
R2259:Tmem132c	UTSW	5	127,581,988 (GRCm39)	missense	probably benign	0.01
R3853:Tmem132c	UTSW	5	127,436,933 (GRCm39)	missense	probably benign	0.00
R4204:Tmem132c	UTSW	5	127,640,829 (GRCm39)	missense	possibly damaging	0.73
R4543:Tmem132c	UTSW	5	127,582,041 (GRCm39)	missense	probably benign	0.00
R4701:Tmem132c	UTSW	5	127,641,560 (GRCm39)	unclassified	probably benign
R5017:Tmem132c	UTSW	5	127,640,414 (GRCm39)	missense	probably benign	0.13
R5037:Tmem132c	UTSW	5	127,630,199 (GRCm39)	missense	probably benign	0.42
R5327:Tmem132c	UTSW	5	127,640,816 (GRCm39)	missense	possibly damaging	0.50
R5423:Tmem132c	UTSW	5	127,640,907 (GRCm39)	missense	probably benign	0.02
R5548:Tmem132c	UTSW	5	127,628,587 (GRCm39)	nonsense	probably null
R6425:Tmem132c	UTSW	5	127,630,329 (GRCm39)	missense	possibly damaging	0.95
R6717:Tmem132c	UTSW	5	127,641,093 (GRCm39)	missense	possibly damaging	0.93
R6899:Tmem132c	UTSW	5	127,628,744 (GRCm39)	missense	probably damaging	1.00
R7007:Tmem132c	UTSW	5	127,436,679 (GRCm39)	missense	probably damaging	1.00
R7297:Tmem132c	UTSW	5	127,437,281 (GRCm39)	missense	probably benign	0.06
R7326:Tmem132c	UTSW	5	127,641,123 (GRCm39)	missense	possibly damaging	0.51
R7386:Tmem132c	UTSW	5	127,640,990 (GRCm39)	missense	probably benign	0.16
R7504:Tmem132c	UTSW	5	127,631,696 (GRCm39)	missense	probably damaging	1.00
R7640:Tmem132c	UTSW	5	127,640,070 (GRCm39)	missense	probably damaging	1.00
R7718:Tmem132c	UTSW	5	127,640,504 (GRCm39)	missense	probably benign	0.06
R7762:Tmem132c	UTSW	5	127,631,760 (GRCm39)	missense	possibly damaging	0.90
R7818:Tmem132c	UTSW	5	127,641,152 (GRCm39)	makesense	probably null
R8425:Tmem132c	UTSW	5	127,641,421 (GRCm39)	missense
R8749:Tmem132c	UTSW	5	127,437,003 (GRCm39)	missense	possibly damaging	0.75
R8771:Tmem132c	UTSW	5	127,437,192 (GRCm39)	missense	probably benign	0.00
R8798:Tmem132c	UTSW	5	127,437,217 (GRCm39)	nonsense	probably null
R9372:Tmem132c	UTSW	5	127,640,145 (GRCm39)	missense	probably damaging	1.00
X0067:Tmem132c	UTSW	5	127,613,471 (GRCm39)	missense	possibly damaging	0.79
Z1088:Tmem132c	UTSW	5	127,581,985 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GAGCCATCCCAAAGTACAGGTG -3'
(R):5'- GCGGTAAAGGCTAATGGTGC -3'

Sequencing Primer
(F):5'- AAGTACAGGTGCTCTTCCACATCG -3'
(R):5'- AGGCTAATGGTGCCAATCTTC -3'

Posted On

2020-06-30