Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Smtn'

289691

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smtn

Ensembl Gene

ENSMUSG00000020439

Gene Name

smoothelin

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

3517523-3540612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3526215 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 602 (E602G)

Ref Sequence

ENSEMBL: ENSMUSP00000133155 (fasta)

Gene Model

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

AlphaFold

Q921U8

Predicted Effect

probably benign
Transcript: ENSMUST00000020718
AA Change: E193G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439
AA Change: E193G

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 damaging
Transcript: ENSMUST00000020721
AA Change: E602G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439
AA Change: E602G

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 damaging
Transcript: ENSMUST00000075118
AA Change: E602G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439
AA Change: E602G

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 damaging
Transcript: ENSMUST00000110011
AA Change: E602G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439
AA Change: E602G

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

noncoding transcript
Transcript: ENSMUST00000144635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154861

Predicted Effect

probably damaging
Transcript: ENSMUST00000170588
AA Change: E602G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439
AA Change: E602G

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	T	7: 140,296,540	N526Y	probably damaging	Het
A4gnt	C	T	9: 99,620,213	T142I	probably benign	Het
Acaca	A	G	11: 84,214,258	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929	T94A	possibly damaging	Het
Cd22	A	G	7: 30,876,134	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769		probably benign	Het
Col6a6	C	T	9: 105,784,101	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834		probably null	Het
Dctn2	T	C	10: 127,275,821		probably benign	Het
Dnm1l	A	G	16: 16,342,740		probably benign	Het
Dpp4	T	C	2: 62,334,644	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390	W181*	probably null	Het
G2e3	T	A	12: 51,369,158	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763	I572M	probably benign	Het
Gm5538	G	A	3: 59,743,605	M49I	probably benign	Het
Gpatch2l	T	A	12: 86,256,937		probably benign	Het
Kcnq4	A	G	4: 120,715,854	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636		probably null	Het
Olfr1442	T	C	19: 12,674,238	I11T	probably damaging	Het
Olfr1494	A	G	19: 13,749,934	D276G	probably benign	Het
Olfr96	A	G	17: 37,225,326	N67S	probably damaging	Het
Pls1	A	T	9: 95,784,183	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117		probably null	Het
Rrp7a	T	C	15: 83,122,691	E15G	probably benign	Het
Scn1a	T	A	2: 66,277,661	T1557S	possibly damaging	Het
Syvn1	T	C	19: 6,050,093		probably null	Het
Tbxas1	A	G	6: 39,023,080	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267	L34Q	probably damaging	Het

Other mutations in Smtn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Smtn	APN	11	3526326	critical splice donor site	probably null
IGL02473:Smtn	APN	11	3532463	missense	probably damaging	1.00
IGL02678:Smtn	APN	11	3526353	missense	possibly damaging	0.95
IGL02824:Smtn	APN	11	3532658	missense	probably damaging	1.00
IGL03067:Smtn	APN	11	3530165	missense	possibly damaging	0.53
IGL03142:Smtn	APN	11	3532601	nonsense	probably null
runtish	UTSW	11	3531326	missense	possibly damaging	0.89
R0279:Smtn	UTSW	11	3530235	missense	probably damaging	0.99
R0523:Smtn	UTSW	11	3524664	missense	possibly damaging	0.89
R0855:Smtn	UTSW	11	3521880	missense	probably damaging	1.00
R1080:Smtn	UTSW	11	3517693	missense	probably damaging	1.00
R1218:Smtn	UTSW	11	3530021	missense	probably benign
R1571:Smtn	UTSW	11	3530102	missense	probably benign	0.00
R1899:Smtn	UTSW	11	3531326	missense	possibly damaging	0.89
R2033:Smtn	UTSW	11	3517781	missense	probably benign	0.43
R2126:Smtn	UTSW	11	3530045	missense	probably benign	0.02
R2358:Smtn	UTSW	11	3532865	splice site	probably null
R3690:Smtn	UTSW	11	3527687	intron	probably benign
R3712:Smtn	UTSW	11	3532865	splice site	probably null
R4108:Smtn	UTSW	11	3526449	missense	probably benign	0.10
R4709:Smtn	UTSW	11	3524663	missense	probably damaging	0.99
R4710:Smtn	UTSW	11	3524663	missense	probably damaging	0.99
R4830:Smtn	UTSW	11	3520736	intron	probably benign
R4944:Smtn	UTSW	11	3522916	missense	probably damaging	1.00
R4959:Smtn	UTSW	11	3527825	start codon destroyed	probably null
R5223:Smtn	UTSW	11	3529530	missense	probably benign	0.00
R5554:Smtn	UTSW	11	3520811	nonsense	probably null
R5610:Smtn	UTSW	11	3529582	missense	probably damaging	1.00
R5636:Smtn	UTSW	11	3517829	critical splice acceptor site	probably null
R5972:Smtn	UTSW	11	3533486	missense	probably damaging	1.00
R6108:Smtn	UTSW	11	3529608	missense	probably damaging	0.99
R6227:Smtn	UTSW	11	3527624	intron	probably benign
R7016:Smtn	UTSW	11	3530368	critical splice donor site	probably null
R7423:Smtn	UTSW	11	3531200	critical splice donor site	probably null
R7426:Smtn	UTSW	11	3530249	missense	probably benign	0.10
R7447:Smtn	UTSW	11	3530196	missense	probably benign
R7496:Smtn	UTSW	11	3529988	missense	probably damaging	0.99
R7716:Smtn	UTSW	11	3524708	missense	probably benign	0.00
R8762:Smtn	UTSW	11	3526407	missense	probably benign	0.00
R8925:Smtn	UTSW	11	3529477	missense	possibly damaging	0.68
R8927:Smtn	UTSW	11	3529477	missense	possibly damaging	0.68
R8932:Smtn	UTSW	11	3522908	missense	probably benign	0.01
R9137:Smtn	UTSW	11	3522838	missense	possibly damaging	0.93
R9502:Smtn	UTSW	11	3532780	missense	possibly damaging	0.88

Posted On

2015-04-16