Mutagenetix > Incidental Mutation

Incidental Mutation 'R0256:Smco2'

34742

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

038487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0256 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

146751608-146772902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146763244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 184 (I184F)

Ref Sequence

ENSEMBL: ENSMUSP00000032433 (fasta)

Gene Model

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

AlphaFold

Q9DA21

Predicted Effect

probably damaging
Transcript: ENSMUST00000032433
AA Change: I184F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032433
Gene: ENSMUSG00000030292
AA Change: I184F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111634
AA Change: I240F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107261
Gene: ENSMUSG00000030292
AA Change: I240F

Domain	Start	End	E-Value	Type
Pfam:TMCO5	57	402	1.8e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205239

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.6%
3x: 97.6%
10x: 95.8%
20x: 92.8%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	T	10: 29,098,252 (GRCm39)	L186F	probably damaging	Het
Abce1	A	C	8: 80,412,572 (GRCm39)		probably null	Het
Acvrl1	A	T	15: 101,035,002 (GRCm39)	N254Y	probably damaging	Het
Apip	T	A	2: 102,918,916 (GRCm39)	M72K	possibly damaging	Het
Arg1	A	G	10: 24,792,356 (GRCm39)	Y188H	probably benign	Het
Armc3	A	T	2: 19,274,027 (GRCm39)	N354Y	probably damaging	Het
Arrdc5	A	G	17: 56,601,382 (GRCm39)	F248L	probably damaging	Het
Atp8b5	T	C	4: 43,302,576 (GRCm39)		probably benign	Het
Bltp1	G	T	3: 36,971,922 (GRCm39)	V552L	probably benign	Het
Ccdc154	C	T	17: 25,389,606 (GRCm39)	A490V	probably benign	Het
Cdh6	T	C	15: 13,053,868 (GRCm39)		probably benign	Het
Chmp2b	G	T	16: 65,337,078 (GRCm39)	T193K	probably benign	Het
Clca3a1	A	T	3: 144,436,640 (GRCm39)	N814K	probably damaging	Het
Cmtr1	T	C	17: 29,916,098 (GRCm39)	L576P	probably damaging	Het
Fhl5	T	C	4: 25,213,624 (GRCm39)	H104R	probably benign	Het
Foxk1	A	G	5: 142,439,436 (GRCm39)		probably benign	Het
Gm11596	T	A	11: 99,683,542 (GRCm39)	T193S	unknown	Het
Gm15217	A	T	14: 46,617,853 (GRCm39)		probably benign	Het
Hic2	A	G	16: 17,075,377 (GRCm39)	I69V	probably benign	Het
Ivl	T	C	3: 92,479,150 (GRCm39)	D305G	probably damaging	Het
Kcnn2	A	G	18: 45,725,472 (GRCm39)	T323A	probably damaging	Het
Krt7	C	T	15: 101,321,190 (GRCm39)	Q336*	probably null	Het
Krt73	T	G	15: 101,710,371 (GRCm39)	D121A	probably damaging	Het
Mok	T	C	12: 110,774,539 (GRCm39)	D216G	probably damaging	Het
Muc17	A	G	5: 137,175,539 (GRCm39)	C44R	probably damaging	Het
Muc5b	A	G	7: 141,395,132 (GRCm39)	Y46C	unknown	Het
Muc5b	T	C	7: 141,396,995 (GRCm39)	F223L	unknown	Het
Noct	A	G	3: 51,157,895 (GRCm39)	D411G	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5j1	T	C	2: 86,879,400 (GRCm39)	Y60C	probably damaging	Het
Or6c76b	A	T	10: 129,692,906 (GRCm39)	D173V	probably damaging	Het
Pigv	T	C	4: 133,393,062 (GRCm39)	H36R	probably damaging	Het
Plscr3	A	G	11: 69,740,880 (GRCm39)	K239E	probably damaging	Het
Prkag3	T	C	1: 74,780,330 (GRCm39)	D445G	probably benign	Het
Ramp1	A	T	1: 91,124,641 (GRCm39)		probably benign	Het
Ror1	T	A	4: 100,266,942 (GRCm39)	H214Q	probably benign	Het
Selenbp2	A	T	3: 94,607,008 (GRCm39)	H156L	probably benign	Het
Slc28a3	T	C	13: 58,721,314 (GRCm39)	T284A	probably benign	Het
Slc35a1	T	C	4: 34,668,962 (GRCm39)	T284A	probably benign	Het
Son	A	G	16: 91,453,472 (GRCm39)	M740V	possibly damaging	Het
Stil	T	A	4: 114,880,882 (GRCm39)	N475K	possibly damaging	Het
Sval3	A	G	6: 41,949,839 (GRCm39)	D122G	probably damaging	Het
Tnks	A	G	8: 35,328,701 (GRCm39)	M623T	probably benign	Het
Zfp142	A	G	1: 74,617,317 (GRCm39)	V235A	probably benign	Het
Zfp423	A	T	8: 88,500,262 (GRCm39)	C1053*	probably null	Het
Zfp648	T	A	1: 154,081,414 (GRCm39)	D524E	probably benign	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
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
R8011:Smco2	UTSW	6	146,769,633 (GRCm39)	missense	probably damaging	0.99
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'- GCAGCAGAGCCTCACTTCTCTTTAG -3'
(R):5'- TGGAGGAAGGTGCTCTACACAGTC -3'

Sequencing Primer
(F):5'- CTTTAGTGTGCCTTTCCGC -3'
(R):5'- CCCTCCTGTGATGGAGGTG -3'

Posted On

2013-05-09