Mutagenetix > Incidental Mutation

Incidental Mutation 'R4959:Smtn'

382175

Institutional Source

Beutler Lab

Gene Symbol

Smtn

Ensembl Gene

ENSMUSG00000020439

Gene Name

smoothelin

Synonyms

MMRRC Submission

042556-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R4959 (G1)

Quality Score

139

Status

Not validated

Chromosome

Chromosomal Location

3467522-3489337 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 3477825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000020718 (fasta)

Gene Model

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

AlphaFold

Q921U8

Predicted Effect

probably null
Transcript: ENSMUST00000020718
AA Change: M1K

SMART Domains

Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439
AA Change: M1K

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

SMART Domains

Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439

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

SMART Domains

Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439

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

SMART Domains

Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439

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

noncoding transcript
Transcript: ENSMUST00000123459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128806

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

noncoding transcript
Transcript: ENSMUST00000154861

Predicted Effect

probably benign
Transcript: ENSMUST00000170588

SMART Domains

Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439

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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.6%
20x: 89.7%

Validation Efficiency

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,183,656 (GRCm39)	C136S	probably benign	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Acrv1	G	A	9: 36,605,996 (GRCm39)		probably null	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atm	A	T	9: 53,426,601 (GRCm39)	D552E	probably benign	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Ccser2	A	T	14: 36,662,753 (GRCm39)	S144T	probably benign	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Crb2	G	T	2: 37,680,482 (GRCm39)	R470L	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Dsp	C	T	13: 38,375,686 (GRCm39)	A1157V	probably benign	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam187b	T	A	7: 30,681,687 (GRCm39)	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,691,097 (GRCm39)	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo38	A	T	18: 62,655,578 (GRCm39)	N369K	probably benign	Het
Fitm1	T	A	14: 55,813,831 (GRCm39)		probably null	Het
Fkbp5	T	C	17: 28,647,343 (GRCm39)	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fryl	A	T	5: 73,192,401 (GRCm39)	M2678K	probably benign	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm3233	T	C	10: 77,595,399 (GRCm39)		probably benign	Het
Gzmd	T	G	14: 56,369,955 (GRCm39)	T9P	unknown	Het
Htr2b	A	T	1: 86,027,813 (GRCm39)	I231N	probably damaging	Het
Il2ra	A	G	2: 11,681,664 (GRCm39)	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kif21b	G	A	1: 136,076,108 (GRCm39)	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mapk1	T	A	16: 16,836,170 (GRCm39)	M106K	probably damaging	Het
Mpp2	A	G	11: 101,954,117 (GRCm39)	V193A	probably damaging	Het
Muc4	T	C	16: 32,575,437 (GRCm39)	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,065,578 (GRCm39)	Y282H	probably damaging	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Ngef	A	G	1: 87,431,070 (GRCm39)	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,165,448 (GRCm39)	H816R	possibly damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or1e22	A	T	11: 73,376,893 (GRCm39)	Y252*	probably null	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Pcgf2	A	T	11: 97,582,515 (GRCm39)	Y7N	possibly damaging	Het
Pdlim5	G	A	3: 142,017,740 (GRCm39)		probably benign	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Prl3c1	G	T	13: 27,386,471 (GRCm39)		probably null	Het
Ptpn4	A	T	1: 119,692,826 (GRCm39)	Y110*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Rd3l	C	T	12: 111,946,578 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Simc1	T	G	13: 54,673,131 (GRCm39)	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,735,807 (GRCm39)	I144N	possibly damaging	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,875,102 (GRCm39)	G811D	probably damaging	Het
Spta1	A	C	1: 174,074,174 (GRCm39)	D2371A	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Stim2	G	T	5: 54,262,712 (GRCm39)	R318L	probably benign	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Suz12	G	A	11: 79,920,057 (GRCm39)	G539D	probably damaging	Het
Sytl2	C	G	7: 90,025,245 (GRCm39)	S411C	probably damaging	Het
Taf6	G	A	5: 138,181,465 (GRCm39)	Q156*	probably null	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Thada	T	C	17: 84,751,611 (GRCm39)	Y455C	probably damaging	Het
Tlr6	G	C	5: 65,111,002 (GRCm39)	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,101,876 (GRCm39)	D389G	probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Trrap	A	T	5: 144,793,770 (GRCm39)	H3384L	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Vat1	G	A	11: 101,351,426 (GRCm39)	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,257,302 (GRCm39)	S544P	probably damaging	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,096,719 (GRCm39)	V1242E	probably damaging	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp322a	T	C	13: 23,541,052 (GRCm39)	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp936	A	T	7: 42,839,034 (GRCm39)	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,132,302 (GRCm39)	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,394,538 (GRCm39)	M21T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	probably benign	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
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
R7426:Smtn	UTSW	11	3,480,249 (GRCm39)	missense	probably benign	0.10
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'- TCTAGCTCAGACTCCAGGTC -3'
(R):5'- GAGGAGCCCAGAATAGGTTTC -3'

Sequencing Primer
(F):5'- TGCCTGGTCAGTGCATCGAG -3'
(R):5'- GCCCAGAATAGGTTTCTATTTGAGC -3'

Posted On

2016-04-27