Mutagenetix > Incidental Mutation

Incidental Mutation 'R7426:Smtn'

576107

Institutional Source

Beutler Lab

Gene Symbol

Smtn

Ensembl Gene

ENSMUSG00000020439

Gene Name

smoothelin

Synonyms

MMRRC Submission

045504-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R7426 (G1)

Quality Score

174.009

Status

Validated

Chromosome

Chromosomal Location

3467522-3489337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3480249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 324 (R324L)

Ref Sequence

ENSEMBL: ENSMUSP00000074621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020718] [ENSMUST00000020721] [ENSMUST00000075118] [ENSMUST00000110011] [ENSMUST00000136243] [ENSMUST00000156201] [ENSMUST00000170588]

AlphaFold

Q921U8

Predicted Effect

probably benign
Transcript: ENSMUST00000020718

SMART Domains

Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	26	38	N/A	INTRINSIC
coiled coil region	41	74	N/A	INTRINSIC
low complexity region	75	100	N/A	INTRINSIC
low complexity region	118	132	N/A	INTRINSIC
Pfam:Smoothelin	154	208	1e-23	PFAM
low complexity region	212	236	N/A	INTRINSIC
CH	322	421	1.04e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020721
AA Change: R324L

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439
AA Change: R324L

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	1.7e-15	PFAM
Pfam:Smoothelin	68	122	6.8e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	563	617	2.7e-23	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	906	1.04e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000075118
AA Change: R324L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439
AA Change: R324L

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	1.7e-15	PFAM
Pfam:Smoothelin	68	122	6.8e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	563	617	2.8e-23	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	907	9.51e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110011
AA Change: R324L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439
AA Change: R324L

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	2.5e-14	PFAM
Pfam:Smoothelin	72	122	8.5e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	568	617	6e-25	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	930	1.62e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136243

SMART Domains

Protein: ENSMUSP00000117307
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	2.3e-16	PFAM
Pfam:Smoothelin	68	122	6.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156201

SMART Domains

Protein: ENSMUSP00000118750
Gene: ENSMUSG00000020439

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	3.4e-13	PFAM
Pfam:Smoothelin	68	122	1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170588
AA Change: R324L

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439
AA Change: R324L

Domain	Start	End	E-Value	Type
Pfam:Smoothelin	1	41	1.7e-15	PFAM
Pfam:Smoothelin	68	122	6.8e-19	PFAM
low complexity region	159	180	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	366	391	N/A	INTRINSIC
Pfam:Smoothelin	563	617	2.7e-23	PFAM
low complexity region	697	721	N/A	INTRINSIC
CH	807	906	1.04e-22	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (114/118)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions of both the A and B isoforms of this gene display partial postnatal lethality, impaired intestinal smooth muscle contractility and thus hampered intestinal transit and diverticulosis. Mice lacking only the B isoform appearnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 119,945,221 (GRCm39)	N432K	possibly damaging	Het
Abitram	A	G	4: 56,804,230 (GRCm39)	I82V	probably null	Het
Adamtsl5	G	A	10: 80,180,693 (GRCm39)	T123I	probably benign	Het
Aff4	T	C	11: 53,263,702 (GRCm39)	S241P	probably damaging	Het
Agl	A	G	3: 116,552,404 (GRCm39)	L510P		Het
Aox1	A	T	1: 58,329,142 (GRCm39)	K196*	probably null	Het
Arhgef37	A	G	18: 61,637,456 (GRCm39)	L402P	probably damaging	Het
Arid4b	T	C	13: 14,355,891 (GRCm39)		probably null	Het
Atp5pb	A	G	3: 105,851,118 (GRCm39)	V193A	probably benign	Het
Atp8b3	A	G	10: 80,365,463 (GRCm39)		probably null	Het
Baz2a	G	T	10: 127,951,947 (GRCm39)	R555L	probably damaging	Het
Casp4	G	T	9: 5,321,345 (GRCm39)	S32I	possibly damaging	Het
Cd300lb	A	G	11: 114,819,128 (GRCm39)	V167A	probably damaging	Het
Cdc42bpg	C	T	19: 6,368,428 (GRCm39)	T1042I	probably damaging	Het
Ceacam20	T	C	7: 19,704,159 (GRCm39)	F70S	probably damaging	Het
Cep162	C	T	9: 87,074,819 (GRCm39)	V1388I	probably damaging	Het
Cfap65	A	G	1: 74,959,585 (GRCm39)	V855A	possibly damaging	Het
Chil3	G	T	3: 106,063,022 (GRCm39)	D189E	probably benign	Het
Cln3	A	G	7: 126,180,912 (GRCm39)	I43T	probably benign	Het
Cntnap5a	A	G	1: 116,370,110 (GRCm39)	Q909R	probably benign	Het
Ctsd	C	A	7: 141,937,278 (GRCm39)	A77S	probably damaging	Het
Dnah12	T	A	14: 26,445,781 (GRCm39)	S781T	probably benign	Het
Dnah17	T	A	11: 117,981,543 (GRCm39)	Q1716L	probably null	Het
Dock3	C	A	9: 106,772,782 (GRCm39)	M490I	probably benign	Het
Erg	T	C	16: 95,260,015 (GRCm39)		probably null	Het
Farp2	A	T	1: 93,548,950 (GRCm39)	M1019L	possibly damaging	Het
Fcgbp	A	G	7: 27,785,949 (GRCm39)	K462R	probably benign	Het
Fn1	A	T	1: 71,688,384 (GRCm39)	N173K	probably damaging	Het
Fsip2	A	T	2: 82,810,441 (GRCm39)	L2253F	probably damaging	Het
Gabrd	C	T	4: 155,469,970 (GRCm39)	R413H	possibly damaging	Het
Galnt5	A	T	2: 57,907,151 (GRCm39)	D538V	probably damaging	Het
Gje1	T	A	10: 14,592,223 (GRCm39)	L186F	probably damaging	Het
Gm16686	A	T	4: 88,673,563 (GRCm39)	C89S	unknown	Het
Gna15	G	T	10: 81,338,831 (GRCm39)	A336E	probably benign	Het
Golga4	C	T	9: 118,388,563 (GRCm39)	S1895L	probably benign	Het
Gon4l	A	T	3: 88,814,829 (GRCm39)	M1933L	probably benign	Het
Gpr183	T	C	14: 122,192,156 (GRCm39)	S122G	possibly damaging	Het
Gtf2h4	G	A	17: 35,980,250 (GRCm39)	T348I	probably damaging	Het
Hace1	T	C	10: 45,481,636 (GRCm39)	Y120H	probably damaging	Het
Hivep2	C	T	10: 14,007,061 (GRCm39)	H1220Y	possibly damaging	Het
Hmx2	T	C	7: 131,156,232 (GRCm39)	F66S	probably benign	Het
Hoxd12	A	T	2: 74,505,569 (GRCm39)	S47C	possibly damaging	Het
Hp	C	A	8: 110,301,832 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,508,492 (GRCm39)	D355E	probably benign	Het
Itga2b	A	T	11: 102,347,120 (GRCm39)	M921K	probably benign	Het
Jcad	A	G	18: 4,675,529 (GRCm39)	D1097G	probably benign	Het
Kdm5b	A	T	1: 134,523,571 (GRCm39)	T249S	probably benign	Het
Klhl11	G	T	11: 100,355,178 (GRCm39)	H214Q	probably benign	Het
L3hypdh	A	T	12: 72,131,705 (GRCm39)	Y76N	probably damaging	Het
Lama4	G	T	10: 38,921,751 (GRCm39)	R424L	possibly damaging	Het
Lepr	A	G	4: 101,602,853 (GRCm39)	I214V	probably benign	Het
Lipc	G	T	9: 70,709,450 (GRCm39)	N432K	probably benign	Het
Lipm	C	T	19: 34,093,598 (GRCm39)	A216V	possibly damaging	Het
Lrrc23	A	G	6: 124,756,088 (GRCm39)	S2P	unknown	Het
Lyst	T	A	13: 13,812,109 (GRCm39)	D840E	probably benign	Het
Mmp23	T	A	4: 155,736,041 (GRCm39)	T204S	probably damaging	Het
Mms19	T	C	19: 41,936,717 (GRCm39)	T785A	probably benign	Het
Mov10	A	T	3: 104,707,368 (GRCm39)		probably null	Het
Mtf2	A	G	5: 108,248,836 (GRCm39)	T383A	probably benign	Het
Myo5c	G	A	9: 75,158,809 (GRCm39)		probably null	Het
Nfxl1	A	T	5: 72,681,517 (GRCm39)	C671*	probably null	Het
Npepps	A	G	11: 97,103,982 (GRCm39)	V813A	probably benign	Het
Nrn1	C	A	13: 36,910,825 (GRCm39)	W69L	probably damaging	Het
Oprd1	A	C	4: 131,841,378 (GRCm39)	D193E	probably benign	Het
Or2ag1b	T	A	7: 106,288,417 (GRCm39)	I174F	possibly damaging	Het
Or52p1	C	T	7: 104,267,059 (GRCm39)	H58Y	probably damaging	Het
Or55b3	A	T	7: 102,126,883 (GRCm39)	Y65N	probably damaging	Het
Or56b2j	T	A	7: 104,352,796 (GRCm39)	D7E	probably benign	Het
Or6c202	A	G	10: 128,996,620 (GRCm39)	Y78H	possibly damaging	Het
Or6c209	T	C	10: 129,483,027 (GRCm39)	I10T	probably damaging	Het
Or6k6	A	C	1: 173,944,753 (GRCm39)	F276L	probably benign	Het
Pcdhac1	G	T	18: 37,225,550 (GRCm39)	V788L	probably benign	Het
Pcdhb11	G	A	18: 37,556,313 (GRCm39)	V548M	probably damaging	Het
Pde4c	A	T	8: 71,201,621 (GRCm39)	E517V	possibly damaging	Het
Pdzd7	T	C	19: 45,022,086 (GRCm39)	R521G	possibly damaging	Het
Pik3c2a	T	A	7: 115,972,089 (GRCm39)	K780N	probably damaging	Het
Plb1	T	G	5: 32,478,591 (GRCm39)		probably null	Het
Plcb4	T	A	2: 135,842,139 (GRCm39)	L1041Q	probably benign	Het
Pnpla6	G	A	8: 3,566,540 (GRCm39)		probably null	Het
Ppat	A	T	5: 77,063,826 (GRCm39)	N441K	probably damaging	Het
Ppp1r1b	G	A	11: 98,246,305 (GRCm39)	A132T	probably damaging	Het
Prl2c2	A	C	13: 13,172,065 (GRCm39)		probably null	Het
Prr14	T	C	7: 127,074,458 (GRCm39)	I330T	probably benign	Het
Pycr1	T	C	11: 120,533,749 (GRCm39)	D36G	probably benign	Het
Rabep2	T	A	7: 126,037,891 (GRCm39)	I221N	probably damaging	Het
Rad23b	A	G	4: 55,370,469 (GRCm39)	D165G	probably benign	Het
Reln	G	A	5: 22,176,951 (GRCm39)	T1905I	probably damaging	Het
Ripor2	T	C	13: 24,878,188 (GRCm39)	V321A	probably benign	Het
Rnf43	A	G	11: 87,622,678 (GRCm39)	D466G	probably benign	Het
Rpl6	A	T	5: 121,343,655 (GRCm39)	R63W	possibly damaging	Het
S100a14	A	G	3: 90,435,511 (GRCm39)	T102A	probably benign	Het
Samd11	C	A	4: 156,333,857 (GRCm39)	V195L	probably benign	Het
Scaper	G	A	9: 55,669,561 (GRCm39)	Q372*	probably null	Het
Sec14l5	G	T	16: 4,998,739 (GRCm39)	C593F	probably damaging	Het
Sema6d	T	C	2: 124,496,078 (GRCm39)	Y41H	probably damaging	Het
Serac1	G	A	17: 6,119,589 (GRCm39)	R114W	probably damaging	Het
Slc12a4	T	C	8: 106,677,468 (GRCm39)	E388G	probably benign	Het
Smarcd3	T	C	5: 24,800,810 (GRCm39)	T164A	probably benign	Het
Spata31d1c	C	T	13: 65,183,175 (GRCm39)	P239L	probably benign	Het
Srcap	T	C	7: 127,137,689 (GRCm39)	V1013A	possibly damaging	Het
Sv2b	T	C	7: 74,773,812 (GRCm39)	N553S	probably damaging	Het
Tex35	T	A	1: 156,932,656 (GRCm39)	N52I	probably damaging	Het
Ticrr	T	C	7: 79,343,734 (GRCm39)	S1200P	probably benign	Het
Tmem19	A	G	10: 115,183,604 (GRCm39)	L125P	probably damaging	Het
Trio	A	G	15: 27,856,193 (GRCm39)	V666A	probably benign	Het
Ttn	T	C	2: 76,747,627 (GRCm39)	D4474G	probably benign	Het
Usp43	A	T	11: 67,783,842 (GRCm39)	S368T	possibly damaging	Het
Vmn2r72	T	A	7: 85,400,348 (GRCm39)	M234L	probably benign	Het
Wdr93	T	A	7: 79,427,055 (GRCm39)		probably null	Het
Wrap73	T	A	4: 154,240,584 (GRCm39)	W359R	probably damaging	Het
Ywhah	A	G	5: 33,183,985 (GRCm39)	I63V	probably benign	Het
Zbtb7b	G	T	3: 89,288,366 (GRCm39)	P151T	probably damaging	Het
Zfp318	A	G	17: 46,710,995 (GRCm39)	N906S	probably damaging	Het
Zfp423	C	A	8: 88,507,341 (GRCm39)	C1001F	probably damaging	Het
Zmym1	A	G	4: 126,943,191 (GRCm39)	I399T	possibly damaging	Het
Zmynd15	G	A	11: 70,353,014 (GRCm39)	G296D	probably benign	Het
Znfx1	T	A	2: 166,890,475 (GRCm39)	I670F	probably damaging	Het

Other mutations in Smtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Smtn	APN	11	3,476,326 (GRCm39)	critical splice donor site	probably null
IGL02335:Smtn	APN	11	3,476,215 (GRCm39)	missense	probably damaging	1.00
IGL02473:Smtn	APN	11	3,482,463 (GRCm39)	missense	probably damaging	1.00
IGL02678:Smtn	APN	11	3,476,353 (GRCm39)	missense	possibly damaging	0.95
IGL02824:Smtn	APN	11	3,482,658 (GRCm39)	missense	probably damaging	1.00
IGL03067:Smtn	APN	11	3,480,165 (GRCm39)	missense	possibly damaging	0.53
IGL03142:Smtn	APN	11	3,482,601 (GRCm39)	nonsense	probably null
runtish	UTSW	11	3,481,326 (GRCm39)	missense	possibly damaging	0.89
R0279:Smtn	UTSW	11	3,480,235 (GRCm39)	missense	probably damaging	0.99
R0523:Smtn	UTSW	11	3,474,664 (GRCm39)	missense	possibly damaging	0.89
R0855:Smtn	UTSW	11	3,471,880 (GRCm39)	missense	probably damaging	1.00
R1080:Smtn	UTSW	11	3,467,693 (GRCm39)	missense	probably damaging	1.00
R1218:Smtn	UTSW	11	3,480,021 (GRCm39)	missense	probably benign
R1571:Smtn	UTSW	11	3,480,102 (GRCm39)	missense	probably benign	0.00
R1899:Smtn	UTSW	11	3,481,326 (GRCm39)	missense	possibly damaging	0.89
R2033:Smtn	UTSW	11	3,467,781 (GRCm39)	missense	probably benign	0.43
R2126:Smtn	UTSW	11	3,480,045 (GRCm39)	missense	probably benign	0.02
R2358:Smtn	UTSW	11	3,482,865 (GRCm39)	splice site	probably null
R3690:Smtn	UTSW	11	3,477,687 (GRCm39)	intron	probably benign
R3712:Smtn	UTSW	11	3,482,865 (GRCm39)	splice site	probably null
R4108:Smtn	UTSW	11	3,476,449 (GRCm39)	missense	probably benign	0.10
R4709:Smtn	UTSW	11	3,474,663 (GRCm39)	missense	probably damaging	0.99
R4710:Smtn	UTSW	11	3,474,663 (GRCm39)	missense	probably damaging	0.99
R4830:Smtn	UTSW	11	3,470,736 (GRCm39)	intron	probably benign
R4944:Smtn	UTSW	11	3,472,916 (GRCm39)	missense	probably damaging	1.00
R4959:Smtn	UTSW	11	3,477,825 (GRCm39)	start codon destroyed	probably null
R5223:Smtn	UTSW	11	3,479,530 (GRCm39)	missense	probably benign	0.00
R5554:Smtn	UTSW	11	3,470,811 (GRCm39)	nonsense	probably null
R5610:Smtn	UTSW	11	3,479,582 (GRCm39)	missense	probably damaging	1.00
R5636:Smtn	UTSW	11	3,467,829 (GRCm39)	critical splice acceptor site	probably null
R5972:Smtn	UTSW	11	3,483,486 (GRCm39)	missense	probably damaging	1.00
R6108:Smtn	UTSW	11	3,479,608 (GRCm39)	missense	probably damaging	0.99
R6227:Smtn	UTSW	11	3,477,624 (GRCm39)	intron	probably benign
R7016:Smtn	UTSW	11	3,480,368 (GRCm39)	critical splice donor site	probably null
R7423:Smtn	UTSW	11	3,481,200 (GRCm39)	critical splice donor site	probably null
R7447:Smtn	UTSW	11	3,480,196 (GRCm39)	missense	probably benign
R7496:Smtn	UTSW	11	3,479,988 (GRCm39)	missense	probably damaging	0.99
R7716:Smtn	UTSW	11	3,474,708 (GRCm39)	missense	probably benign	0.00
R8762:Smtn	UTSW	11	3,476,407 (GRCm39)	missense	probably benign	0.00
R8925:Smtn	UTSW	11	3,479,477 (GRCm39)	missense	possibly damaging	0.68
R8927:Smtn	UTSW	11	3,479,477 (GRCm39)	missense	possibly damaging	0.68
R8932:Smtn	UTSW	11	3,472,908 (GRCm39)	missense	probably benign	0.01
R9137:Smtn	UTSW	11	3,472,838 (GRCm39)	missense	possibly damaging	0.93
R9502:Smtn	UTSW	11	3,482,780 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCAGGGAATGAGCAAGTTCTC -3'
(R):5'- ACGTTCACTATCTGTGCTCAG -3'

Sequencing Primer
(F):5'- AGGGAATGAGCAAGTTCTCTCTGC -3'
(R):5'- ACCATCCCTAGGTTCTGA -3'

Posted On

2019-10-07