Mutagenetix > Incidental Mutation

Incidental Mutation 'R8011:Smco2'

616907

Institutional Source

Beutler Lab

Gene Symbol

Smco2

Ensembl Gene

ENSMUSG00000030292

Gene Name

single-pass membrane protein with coiled-coil domains 2

Synonyms

1700023A16Rik

MMRRC Submission

046051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146751608-146772902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146769633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 239 (Y239C)

Ref Sequence

ENSEMBL: ENSMUSP00000032433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032433]

AlphaFold

Q9DA21

Predicted Effect

probably damaging
Transcript: ENSMUST00000032433
AA Change: Y239C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032433
Gene: ENSMUSG00000030292
AA Change: Y239C

Domain	Start	End	E-Value	Type
Pfam:TMCO5	1	121	3.6e-14	PFAM
Pfam:TMCO5	142	346	2.5e-48	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	T	9: 124,056,529 (GRCm39)	E132K		Het
Acss2	T	C	2: 155,397,877 (GRCm39)	I313T	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Ankrd27	T	C	7: 35,316,306 (GRCm39)	V524A	probably benign	Het
Cacna1e	T	C	1: 154,341,568 (GRCm39)	I1209V	probably benign	Het
Cntn3	A	T	6: 102,414,860 (GRCm39)	I29N	possibly damaging	Het
Col5a1	G	A	2: 27,870,533 (GRCm39)		probably benign	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Edc3	C	A	9: 57,620,659 (GRCm39)		probably benign	Het
Egflam	A	T	15: 7,276,525 (GRCm39)	M547K	possibly damaging	Het
Fgr	T	C	4: 132,725,790 (GRCm39)	Y400H	probably damaging	Het
Gaa	C	T	11: 119,163,762 (GRCm39)	P205S	probably benign	Het
Gpr6	T	A	10: 40,946,911 (GRCm39)	T224S	probably benign	Het
Hes3	T	C	4: 152,371,938 (GRCm39)		probably benign	Het
Hydin	T	C	8: 111,310,541 (GRCm39)	F4079S	probably damaging	Het
Igf2bp2	A	T	16: 21,894,849 (GRCm39)	I366N	probably damaging	Het
Kmt2c	A	G	5: 25,556,232 (GRCm39)	V1171A	probably damaging	Het
Kndc1	T	A	7: 139,490,536 (GRCm39)	F346Y	possibly damaging	Het
Lpin2	G	A	17: 71,537,370 (GRCm39)	G306R	probably benign	Het
Mok	T	C	12: 110,781,351 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,070,023 (GRCm39)	V265A	unknown	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2ah1	T	G	2: 85,653,957 (GRCm39)	L214R	possibly damaging	Het
Or4c103	G	A	2: 88,513,537 (GRCm39)	Q180*	probably null	Het
Or5j1	A	C	2: 86,879,190 (GRCm39)	L130R	probably damaging	Het
Or6b2b	A	G	1: 92,418,997 (GRCm39)	V160A	possibly damaging	Het
Parp14	G	A	16: 35,677,004 (GRCm39)	T988I	probably benign	Het
Pdk1	A	T	2: 71,705,796 (GRCm39)	Q81H	probably benign	Het
Plekha6	A	G	1: 133,191,544 (GRCm39)	T38A	probably benign	Het
Pou2f1	A	G	1: 165,722,472 (GRCm39)		probably null	Het
Rgs6	A	G	12: 83,163,066 (GRCm39)	D424G	probably null	Het
Rnf13	T	G	3: 57,714,491 (GRCm39)	Y183*	probably null	Het
Ryr2	A	T	13: 11,603,026 (GRCm39)		probably null	Het
Serpinb7	T	A	1: 107,362,487 (GRCm39)	S64T	possibly damaging	Het
Six2	T	C	17: 85,995,100 (GRCm39)	E94G	probably damaging	Het
Slc44a5	A	G	3: 153,953,447 (GRCm39)	I276M	possibly damaging	Het
Ssx2ip	T	C	3: 146,128,666 (GRCm39)	S148P	probably damaging	Het
Tiam2	T	C	17: 3,498,671 (GRCm39)	Y816H	possibly damaging	Het
Tnk2	C	T	16: 32,487,183 (GRCm39)	R127C	probably benign	Het
Tpd52l1	T	C	10: 31,208,913 (GRCm39)	N185S	probably benign	Het
Try5	T	C	6: 41,290,421 (GRCm39)	D21G	probably benign	Het
Vmn2r20	A	G	6: 123,373,369 (GRCm39)	V491A	possibly damaging	Het
Vps54	G	T	11: 21,225,095 (GRCm39)	R197L	probably damaging	Het
Xkr5	G	T	8: 18,998,736 (GRCm39)	Y27*	probably null	Het
Zfp1004	A	G	2: 150,034,266 (GRCm39)	S196G	possibly damaging	Het
Zfp626	T	A	7: 27,518,140 (GRCm39)	C374S	possibly damaging	Het

Other mutations in Smco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Smco2	APN	6	146,763,208 (GRCm39)	missense	probably benign	0.38
IGL03082:Smco2	APN	6	146,761,542 (GRCm39)	missense	possibly damaging	0.52
R0256:Smco2	UTSW	6	146,763,244 (GRCm39)	missense	probably damaging	1.00
R0402:Smco2	UTSW	6	146,772,633 (GRCm39)	critical splice acceptor site	probably benign
R1144:Smco2	UTSW	6	146,772,638 (GRCm39)	critical splice acceptor site	probably benign
R1335:Smco2	UTSW	6	146,763,585 (GRCm39)	intron	probably benign
R2508:Smco2	UTSW	6	146,761,465 (GRCm39)	missense	probably damaging	1.00
R4560:Smco2	UTSW	6	146,772,674 (GRCm39)	missense	possibly damaging	0.94
R4701:Smco2	UTSW	6	146,763,440 (GRCm39)	intron	probably benign
R4987:Smco2	UTSW	6	146,757,590 (GRCm39)	missense	possibly damaging	0.59
R5322:Smco2	UTSW	6	146,772,785 (GRCm39)	missense	probably damaging	1.00
R6764:Smco2	UTSW	6	146,772,827 (GRCm39)	missense	probably damaging	0.99
R7023:Smco2	UTSW	6	146,760,354 (GRCm39)	nonsense	probably null
R7090:Smco2	UTSW	6	146,772,711 (GRCm39)	missense	probably damaging	0.97
R7220:Smco2	UTSW	6	146,760,363 (GRCm39)	missense	probably benign
R7635:Smco2	UTSW	6	146,761,507 (GRCm39)	missense	possibly damaging	0.57
R8060:Smco2	UTSW	6	146,768,283 (GRCm39)	missense	probably benign
RF015:Smco2	UTSW	6	146,754,161 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCACCTGCTAATGGCCAC -3'
(R):5'- TCCTTATTTTGAGAAGCCACACAC -3'

Sequencing Primer
(F):5'- ACCTGCTAATGGCCACCTGAG -3'
(R):5'- CAGTGATTAAAGCTGTGTGCCAC -3'

Posted On

2020-01-23