Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Smco1'

519503

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

044590-MU

Accession Numbers

Essential gene?

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

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32090298-32093599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32092041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 40 (T40A)

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

possibly damaging
Transcript: ENSMUST00000093183
AA Change: T40A

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: T40A

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

0.1712

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	G	T	8: 44,079,845 (GRCm39)	N126K	probably damaging	Het
Arid2	C	T	15: 96,270,294 (GRCm39)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,608,290 (GRCm39)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,245,948 (GRCm39)		probably null	Het
Casz1	A	T	4: 149,035,952 (GRCm39)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,883,403 (GRCm39)	S100P	probably damaging	Het
Creld2	T	A	15: 88,707,274 (GRCm39)	C197*	probably null	Het
Csmd1	A	T	8: 15,971,150 (GRCm39)	F3055Y	probably damaging	Het
Dnah11	T	A	12: 117,880,590 (GRCm39)	E3843D	probably benign	Het
Dnah14	T	C	1: 181,611,270 (GRCm39)	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,513,808 (GRCm39)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,914,761 (GRCm39)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faf1	G	T	4: 109,699,531 (GRCm39)	A359S	probably benign	Het
Fam13b	A	G	18: 34,590,715 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,638,015 (GRCm39)	N363I	probably damaging	Het
Grm8	T	G	6: 27,363,775 (GRCm39)	H580P	possibly damaging	Het
Itih5	T	C	2: 10,245,479 (GRCm39)	F523L	probably benign	Het
Klhl1	A	T	14: 96,517,527 (GRCm39)	M383K	possibly damaging	Het
Lgi4	A	T	7: 30,759,557 (GRCm39)	T38S	probably benign	Het
Myh13	T	A	11: 67,241,191 (GRCm39)	M856K	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,085,199 (GRCm39)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,044,722 (GRCm39)	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,146,337 (GRCm39)	H179Q	probably damaging	Het
Nup153	T	C	13: 46,863,136 (GRCm39)		probably null	Het
Nup50l	T	G	6: 96,142,609 (GRCm39)	H145P	possibly damaging	Het
Odf2l	C	A	3: 144,859,181 (GRCm39)	Q517K	possibly damaging	Het
Omd	A	T	13: 49,743,345 (GRCm39)	I132F	probably damaging	Het
Or10d1b	A	G	9: 39,613,130 (GRCm39)	*312Q	probably null	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or5b12	T	A	19: 12,897,395 (GRCm39)	N93Y	probably benign	Het
Or9g19	A	G	2: 85,600,717 (GRCm39)	K191E	probably benign	Het
Otog	A	G	7: 45,955,241 (GRCm39)	N544D	probably damaging	Het
Ovol3	A	G	7: 29,934,800 (GRCm39)	Y29H	probably damaging	Het
Papolb	T	C	5: 142,515,353 (GRCm39)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,632,322 (GRCm39)	V706L	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plekhm1	G	A	11: 103,268,208 (GRCm39)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,587,986 (GRCm39)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm39)	F127L	probably damaging	Het
Rigi	T	A	4: 40,220,456 (GRCm39)	I476F	probably damaging	Het
Rnf5	A	C	17: 34,821,283 (GRCm39)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,538,910 (GRCm39)	M517K	probably damaging	Het
Slc44a5	C	T	3: 153,948,796 (GRCm39)	T188M	probably benign	Het
Speer4f2	A	T	5: 17,579,431 (GRCm39)	I77F	probably damaging	Het
Spem2	A	G	11: 69,708,254 (GRCm39)	L237P	probably damaging	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Tent5b	A	G	4: 133,207,720 (GRCm39)	D37G	probably damaging	Het
Tiam2	A	T	17: 3,488,938 (GRCm39)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm39)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,525,801 (GRCm39)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,022,811 (GRCm39)	*138R	probably null	Het
Tpst1	A	G	5: 130,130,892 (GRCm39)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,261 (GRCm39)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,505,323 (GRCm39)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,723,023 (GRCm39)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,470,580 (GRCm39)		probably benign	Het
Ugt2b37	T	G	5: 87,388,836 (GRCm39)	D459A	probably damaging	Het
Usp35	A	T	7: 96,960,851 (GRCm39)	Y858*	probably null	Het
Usp35	A	T	7: 96,960,767 (GRCm39)	N886K	probably damaging	Het
Wdr33	T	C	18: 31,963,028 (GRCm39)	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,986,310 (GRCm39)	T506I	possibly damaging	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
R3802: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
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'- CCTGTTAGCAATTTAACTACAGTGC -3'
(R):5'- GCTCAGACTAACGCCTTCTG -3'

Sequencing Primer
(F):5'- ACTACAGTGCCTGTGTAAACTTGG -3'
(R):5'- CAGACTAACGCCTTCTGTGTGG -3'

Posted On

2018-05-24