Mutagenetix > Incidental Mutation

Incidental Mutation 'R3802:Smco1'

274375

Institutional Source

Beutler Lab

Gene Symbol

Smco1

Ensembl Gene

ENSMUSG00000046345

Gene Name

single-pass membrane protein with coiled-coil domains 1

Synonyms

2310010M20Rik

MMRRC Submission

040761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R3802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32090298-32093599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32092716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 129 (Y129C)

Ref Sequence

ENSEMBL: ENSMUSP00000090873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000093183] [ENSMUST00000155649] [ENSMUST00000171474]

AlphaFold

Q8CEZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000014218

SMART Domains

Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074

Domain	Start	End	E-Value	Type
RING	16	54	8.23e-6	SMART
coiled coil region	114	184	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093183
AA Change: Y129C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: Y129C

Domain	Start	End	E-Value	Type
Pfam:DUF4547	19	214	5e-120	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155649

SMART Domains

Protein: ENSMUSP00000115807
Gene: ENSMUSG00000014074

Domain	Start	End	E-Value	Type
RING	16	54	8.23e-6	SMART
coiled coil region	114	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171474

SMART Domains

Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074

Domain	Start	End	E-Value	Type
RING	18	56	8.23e-6	SMART
coiled coil region	116	186	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	T	4: 144,430,074 (GRCm39)	L305Q	possibly damaging	Het
Abcc2	C	A	19: 43,810,065 (GRCm39)	N874K	probably benign	Het
Axl	A	T	7: 25,487,902 (GRCm39)	M1K	probably null	Het
Btaf1	A	T	19: 36,963,948 (GRCm39)	T840S	probably benign	Het
Btaf1	A	T	19: 36,966,373 (GRCm39)	H1047L	probably benign	Het
Capn13	G	A	17: 73,646,396 (GRCm39)	P339L	probably benign	Het
Ccdc39	A	T	3: 33,874,044 (GRCm39)	M596K	probably damaging	Het
Cfap20dc	G	T	14: 8,510,931 (GRCm38)	D494E	probably benign	Het
Cfap58	G	T	19: 47,941,498 (GRCm39)	D289Y	possibly damaging	Het
Cnn2	A	G	10: 79,829,329 (GRCm39)	D153G	probably benign	Het
Cstdc2	T	C	2: 148,692,616 (GRCm39)	H62R	probably benign	Het
Cubn	T	C	2: 13,365,164 (GRCm39)	I1625V	probably benign	Het
Gprc5b	C	T	7: 118,582,943 (GRCm39)	D309N	possibly damaging	Het
Grm8	T	G	6: 28,125,635 (GRCm39)	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,871,551 (GRCm39)	T210I	probably benign	Het
Hhipl1	A	G	12: 108,278,566 (GRCm39)	E298G	probably benign	Het
Hivep2	A	G	10: 14,024,705 (GRCm39)	D2173G	possibly damaging	Het
Hsd17b8	A	T	17: 34,245,441 (GRCm39)	V231E	probably damaging	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Kank4	A	G	4: 98,668,370 (GRCm39)	S26P	probably damaging	Het
Kpnb1	A	T	11: 97,056,955 (GRCm39)	V638E	possibly damaging	Het
Lipo3	C	T	19: 33,762,257 (GRCm39)	C80Y	probably damaging	Het
Mga	T	A	2: 119,777,820 (GRCm39)	N1788K	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr10	A	G	7: 63,970,376 (GRCm39)	Y373C	probably benign	Het
Ncoa6	C	T	2: 155,247,484 (GRCm39)	G1940D	probably benign	Het
Nelfe	T	A	17: 35,072,877 (GRCm39)	F166L	possibly damaging	Het
Nfatc3	A	G	8: 106,806,277 (GRCm39)	Y374C	probably damaging	Het
Nhlrc3	A	G	3: 53,366,052 (GRCm39)	V147A	possibly damaging	Het
Or51f1d	A	G	7: 102,701,372 (GRCm39)	Y289C	probably benign	Het
Or8g33	G	A	9: 39,337,582 (GRCm39)	P262S	probably damaging	Het
Pak3	G	A	X: 142,492,727 (GRCm39)	V87I	probably damaging	Het
Papolg	A	T	11: 23,826,449 (GRCm39)	I235N	probably damaging	Het
Pdgfrl	T	C	8: 41,438,594 (GRCm39)	S177P	probably damaging	Het
Phf8	T	C	X: 150,355,572 (GRCm39)	S512P	possibly damaging	Het
Plaa	T	C	4: 94,458,125 (GRCm39)	D615G	probably damaging	Het
Prpf4b	T	C	13: 35,067,665 (GRCm39)		probably benign	Het
Sgk1	T	C	10: 21,873,311 (GRCm39)	V259A	probably damaging	Het
Skint4	G	T	4: 111,975,378 (GRCm39)	V113L	probably damaging	Het
Tas2r106	C	A	6: 131,655,329 (GRCm39)	S174I	probably benign	Het
Tektl1	A	C	10: 78,584,314 (GRCm39)	F367C	probably damaging	Het
Tsn	A	T	1: 118,233,026 (GRCm39)	F93I	probably damaging	Het
Vav2	T	C	2: 27,157,235 (GRCm39)		probably benign	Het
Vmn2r63	A	T	7: 42,552,829 (GRCm39)	M809K	probably damaging	Het
Zfp260	G	A	7: 29,804,504 (GRCm39)	E135K	probably benign	Het
Zfp808	T	A	13: 62,319,897 (GRCm39)	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,094,365 (GRCm39)		probably benign	Het

Other mutations in Smco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Smco1	APN	16	32,092,887 (GRCm39)	missense	probably damaging	1.00
IGL01704:Smco1	APN	16	32,092,704 (GRCm39)	missense	probably benign	0.26
IGL02000:Smco1	APN	16	32,092,751 (GRCm39)	missense	possibly damaging	0.75
R0217:Smco1	UTSW	16	32,092,599 (GRCm39)	missense	possibly damaging	0.77
R0602:Smco1	UTSW	16	32,092,062 (GRCm39)	missense	probably damaging	0.98
R1794:Smco1	UTSW	16	32,092,950 (GRCm39)	missense	probably benign	0.03
R1913:Smco1	UTSW	16	32,092,700 (GRCm39)	missense	probably damaging	1.00
R1996:Smco1	UTSW	16	32,092,730 (GRCm39)	missense	probably benign	0.00
R1998:Smco1	UTSW	16	32,092,658 (GRCm39)	missense	probably damaging	1.00
R3801:Smco1	UTSW	16	32,092,716 (GRCm39)	missense	probably benign	0.00
R3915:Smco1	UTSW	16	32,092,583 (GRCm39)	missense	probably benign	0.01
R5194:Smco1	UTSW	16	32,092,592 (GRCm39)	missense	probably damaging	1.00
R5464:Smco1	UTSW	16	32,092,694 (GRCm39)	missense	probably damaging	1.00
R5850:Smco1	UTSW	16	32,092,674 (GRCm39)	missense	probably damaging	1.00
R6221:Smco1	UTSW	16	32,092,023 (GRCm39)	missense	probably benign	0.00
R6267:Smco1	UTSW	16	32,092,832 (GRCm39)	missense	probably benign	0.00
R6454:Smco1	UTSW	16	32,092,041 (GRCm39)	missense	possibly damaging	0.46
R7068:Smco1	UTSW	16	32,092,929 (GRCm39)	missense	probably benign	0.01
R7196:Smco1	UTSW	16	32,092,620 (GRCm39)	missense	probably damaging	1.00
R7227:Smco1	UTSW	16	32,092,833 (GRCm39)	missense	possibly damaging	0.93
R7517:Smco1	UTSW	16	32,092,785 (GRCm39)	missense	possibly damaging	0.88
R7587:Smco1	UTSW	16	32,092,541 (GRCm39)	missense	probably benign	0.01
R7923:Smco1	UTSW	16	32,092,865 (GRCm39)	missense	possibly damaging	0.58
R8247:Smco1	UTSW	16	32,092,557 (GRCm39)	missense	probably benign	0.06
R8684:Smco1	UTSW	16	32,092,841 (GRCm39)	missense	probably damaging	0.96
Z1088:Smco1	UTSW	16	32,092,033 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATTTAAGGAGCTTTGCCCG -3'
(R):5'- CTTCTCGATGATCTGAACAGCTC -3'

Sequencing Primer
(F):5'- AGGTTCACCTCAATGGAACTG -3'
(R):5'- TCTCGATGATCTGAACAGCTCTAAGC -3'

Posted On

2015-04-02