Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Smtn'

229913

Institutional Source

Beutler Lab

Gene Symbol

Smtn

Ensembl Gene

ENSMUSG00000020439

Gene Name

smoothelin

Synonyms

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3517523-3540612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3530045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 392 (H392L)

Ref Sequence

ENSEMBL: ENSMUSP00000133155 (fasta)

Gene Model

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

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: H392L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439
AA Change: H392L

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: H392L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439
AA Change: H392L

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: H392L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439
AA Change: H392L

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: ENSMUST00000125275

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: ENSMUST00000151804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154861

Predicted Effect

probably benign
Transcript: ENSMUST00000170588
AA Change: H392L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439
AA Change: H392L

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,039,645	T255A	possibly damaging	Het
Acat3	C	T	17: 12,927,407	A230T	probably benign	Het
Acsl1	C	A	8: 46,533,626	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,512,536	I316N	probably damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
AI429214	T	A	8: 36,994,208	V170E	probably benign	Het
Akap13	G	A	7: 75,725,304	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,350,368	Q190*	probably null	Het
Aox3	C	A	1: 58,158,216	Q574K	probably benign	Het
Apeh	A	G	9: 108,085,667	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,737,485	I151T	probably benign	Het
Arhgap28	A	G	17: 67,869,015	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,451,939	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,347,317	S384P	probably benign	Het
Atl1	G	T	12: 69,931,657		probably null	Het
Atp13a2	A	T	4: 140,995,391	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,333,214	N164K	probably benign	Het
Bnipl	T	A	3: 95,245,683	I162F	probably damaging	Het
Cacna1d	A	T	14: 30,123,163	L655I	probably damaging	Het
Canx	T	C	11: 50,304,358	I294M	probably damaging	Het
Casz1	T	C	4: 148,946,064	F1180S	probably damaging	Het
Cav3	T	C	6: 112,472,383	Y121H	probably benign	Het
Cd4	A	C	6: 124,870,536	S222A	probably benign	Het
Cds1	T	C	5: 101,812,550	I289T	probably benign	Het
Cep112	T	C	11: 108,508,258	F328L	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap44	A	T	16: 44,410,475	D273V	probably benign	Het
Clec7a	C	T	6: 129,470,955	G49D	probably benign	Het
Col22a1	G	A	15: 71,857,253	Q599*	probably null	Het
Col6a5	T	A	9: 105,945,600	H186L	unknown	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,724,458	R725*	probably null	Het
Dnajc10	G	A	2: 80,350,734		probably null	Het
Edem3	A	T	1: 151,794,731	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,422,123	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,848,771	V365I	probably damaging	Het
Fam129a	A	C	1: 151,696,135	E277A	probably damaging	Het
Fam129a	A	G	1: 151,709,133	I494V	possibly damaging	Het
Fan1	T	C	7: 64,346,888	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,599,248	V44M	probably benign	Het
Gaa	G	A	11: 119,270,282	W50*	probably null	Het
Gm10032	T	C	14: 66,792,778		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,845,249		probably null	Het
Gprc5b	G	T	7: 118,984,175	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,858,534	Q394*	probably null	Het
Gucd1	A	G	10: 75,512,088	S38P	probably damaging	Het
Higd1a	A	T	9: 121,850,247	I58N	probably damaging	Het
Hmx3	G	C	7: 131,544,549	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,824,438	R337*	probably null	Het
Idua	T	A	5: 108,681,438	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,623,467	V218A	probably benign	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,358,777		probably null	Het
Lasp1	T	A	11: 97,836,134	D227E	probably benign	Het
Lhx6	A	G	2: 36,091,324	I85T	possibly damaging	Het
Limch1	A	G	5: 67,029,760	D840G	probably damaging	Het
Loxl4	C	G	19: 42,603,963	E385D	probably damaging	Het
Lrrtm4	A	T	6: 80,021,739	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,785,709		probably null	Het
Lyg1	T	C	1: 37,950,674	Y44C	probably damaging	Het
Maats1	T	C	16: 38,341,762	T6A	probably benign	Het
Map1a	A	G	2: 121,298,641	I129V	probably damaging	Het
Med27	C	T	2: 29,524,430	Q150*	probably null	Het
Ms4a5	A	T	19: 11,279,368	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,810,742	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,651,440		probably null	Het
Myo3a	A	G	2: 22,578,174	D480G	probably benign	Het
Neb	T	C	2: 52,310,638	Y343C	probably damaging	Het
Nrn1	A	C	13: 36,730,206	V34G	probably damaging	Het
Olfr1090	A	T	2: 86,754,452	N95K	probably benign	Het
Olfr1099	T	C	2: 86,959,098	Y120C	possibly damaging	Het
Olfr1302	A	G	2: 111,780,496	M59V	probably damaging	Het
Olfr679	A	G	7: 105,086,615	T300A	probably damaging	Het
Olfr690	C	T	7: 105,329,252	W313*	probably null	Het
Olfr722	A	G	14: 49,895,067	I245T	probably benign	Het
Olfr887	G	T	9: 38,085,276	V147L	probably benign	Het
Pdia4	A	T	6: 47,796,837	V526E	probably damaging	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Pgk2	A	G	17: 40,207,509	F343L	probably damaging	Het
Piwil1	T	C	5: 128,754,096	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169	Y341N	possibly damaging	Het
Plch2	T	C	4: 154,998,999	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355	M692K	probably benign	Het
Rassf8	G	A	6: 145,815,182	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	A	G	11: 119,450,201	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,768,788		probably null	Het
Rpe	T	G	1: 66,715,980	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,560,295	D36G	probably damaging	Het
Scn2a	T	A	2: 65,752,079	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,222,759	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,295,934	M17L	probably benign	Het
Slit3	T	C	11: 35,688,679	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,662,744	T193M	probably benign	Het
St8sia3	A	G	18: 64,269,674	D128G	probably damaging	Het
Sucla2	A	T	14: 73,592,668	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,836,923	T4A	probably benign	Het
Tdrd5	T	C	1: 156,276,573	R528G	probably damaging	Het
Tex44	T	C	1: 86,427,089	L240P	probably benign	Het
Tns4	A	T	11: 99,080,078		probably null	Het
Trappc10	A	T	10: 78,203,924	V731E	possibly damaging	Het
Ttf1	A	G	2: 29,071,345	K582E	probably damaging	Het
Ttf2	C	A	3: 100,948,193	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,147,532	E402G	probably damaging	Het
Ttn	A	T	2: 76,890,092		probably null	Het
Ugt8a	T	C	3: 125,875,546	D303G	probably damaging	Het
Ulk1	G	T	5: 110,792,436	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,158,192	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,316,074	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,413,807	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,186,975	F78S	probably damaging	Het
Zfp454	A	C	11: 50,873,995	S203R	probably benign	Het
Zfp616	C	A	11: 74,085,403	Q833K	probably benign	Het
Znhit2	A	G	19: 6,062,061	T279A	probably benign	Het
Zswim3	T	A	2: 164,819,993	I131N	probably benign	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
IGL02335:Smtn	APN	11	3526215	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CGGCCATCCTTGATCTCAATG -3'
(R):5'- AAAAGTTCACATCTGATTCTCCCG -3'

Sequencing Primer
(F):5'- GGCCATCCTTGATCTCAATGGTAAAC -3'
(R):5'- GATTCTCCCGTGGTTGCCAG -3'

Posted On

2014-09-17