Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Smtn'

594934

Institutional Source

Beutler Lab

Gene Symbol

Smtn

Ensembl Gene

ENSMUSG00000020439

Gene Name

smoothelin

Synonyms

MMRRC Submission

045774-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R7716 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

3467522-3489337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 3474708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 216 (S216T)

Ref Sequence

ENSEMBL: ENSMUSP00000020718 (fasta)

Gene Model

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

AlphaFold

Q921U8

Predicted Effect

probably benign
Transcript: ENSMUST00000020718
AA Change: S216T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439
AA Change: S216T

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: S701T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439
AA Change: S701T

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

unknown
Transcript: ENSMUST00000075118
AA Change: S701T

SMART Domains

Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439
AA Change: S701T

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

unknown
Transcript: ENSMUST00000110011
AA Change: S701T

SMART Domains

Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439
AA Change: S701T

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: ENSMUST00000170588
AA Change: S701T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439
AA Change: S701T

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,162 (GRCm39)	C41Y	possibly damaging	Het
Abcg1	A	G	17: 31,328,493 (GRCm39)	I421V	probably benign	Het
Ank2	G	T	3: 126,736,815 (GRCm39)	T3023K	unknown	Het
Asb5	T	A	8: 55,038,021 (GRCm39)	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,386,902 (GRCm39)	V242I	probably benign	Het
Atp2a1	C	A	7: 126,061,359 (GRCm39)	G46V	possibly damaging	Het
Birc6	A	G	17: 74,869,056 (GRCm39)	S335G	probably damaging	Het
Bmp1	A	T	14: 70,715,362 (GRCm39)	Y924*	probably null	Het
Ccdc3	T	A	2: 5,143,113 (GRCm39)	F123L	probably benign	Het
Col6a6	C	A	9: 105,661,102 (GRCm39)	V336L	possibly damaging	Het
Cpe	T	C	8: 65,064,431 (GRCm39)	Y256C	probably damaging	Het
Creb1	T	A	1: 64,605,420 (GRCm39)	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,458,283 (GRCm39)	Y38N	probably damaging	Het
Cyren	T	C	6: 34,852,516 (GRCm39)	N60D	possibly damaging	Het
Dnajc1	A	G	2: 18,224,684 (GRCm39)	S390P	probably benign	Het
Edrf1	G	A	7: 133,245,455 (GRCm39)	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,774,511 (GRCm39)	S98P	probably damaging	Het
Emsy	G	A	7: 98,248,973 (GRCm39)	A812V	unknown	Het
Eppk1	A	T	15: 75,991,703 (GRCm39)	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274 (GRCm38)	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,662,209 (GRCm39)	R40W	probably damaging	Het
Gnpat	A	G	8: 125,603,673 (GRCm39)	R194G	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Il17re	T	C	6: 113,439,930 (GRCm39)		probably null	Het
Inpp5d	G	A	1: 87,593,121 (GRCm39)	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,687,969 (GRCm39)	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Klhdc4	T	A	8: 122,556,159 (GRCm39)	M21L	unknown	Het
Lgalsl2	T	C	7: 5,362,819 (GRCm39)	I150T	possibly damaging	Het
Lrguk	C	T	6: 34,072,474 (GRCm39)	A588V	probably damaging	Het
Marchf5	T	C	19: 37,197,822 (GRCm39)	Y164H	probably benign	Het
Mbip	T	A	12: 56,392,473 (GRCm39)	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Myh8	A	T	11: 67,189,478 (GRCm39)	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,830,589 (GRCm39)	I56K	probably benign	Het
Ndufs1	T	C	1: 63,192,016 (GRCm39)	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,753,651 (GRCm39)	L244P	probably damaging	Het
Or11h6	A	G	14: 50,879,815 (GRCm39)	T20A	probably benign	Het
Or14a258	A	T	7: 86,035,262 (GRCm39)	M202K	probably benign	Het
Pdc	A	C	1: 150,206,534 (GRCm39)	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,460 (GRCm39)	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,705,295 (GRCm39)	G900V	probably benign	Het
Plpp1	A	T	13: 112,993,323 (GRCm39)	H86L	probably benign	Het
Plpp1	T	G	13: 112,996,186 (GRCm39)	F168C	probably damaging	Het
Pms1	G	A	1: 53,246,767 (GRCm39)	P312S	probably damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,850,208 (GRCm39)	D19G	probably damaging	Het
Sdr42e1	T	A	8: 118,400,386 (GRCm39)		probably benign	Het
Serpinb8	C	T	1: 107,532,438 (GRCm39)	R177*	probably null	Het
Serpini1	A	C	3: 75,524,021 (GRCm39)	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Smco3	T	A	6: 136,808,247 (GRCm39)	Y209F	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Sri	T	A	5: 8,106,641 (GRCm39)		probably null	Het
Strn	G	A	17: 78,963,204 (GRCm39)	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,466,213 (GRCm39)	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,937,573 (GRCm39)	F628I	probably damaging	Het
Trrap	T	A	5: 144,713,956 (GRCm39)	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,633,090 (GRCm39)	G201C	probably damaging	Het
Tti1	T	A	2: 157,842,618 (GRCm39)	I804F	probably benign	Het
Unc5b	C	T	10: 60,613,217 (GRCm39)	G340R	probably damaging	Het
Usp13	C	A	3: 32,892,005 (GRCm39)	Y61*	probably null	Het
Vmn1r230	T	C	17: 21,067,144 (GRCm39)	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,704 (GRCm39)	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,308,018 (GRCm39)	V740A	probably benign	Het
Zbtb14	A	G	17: 69,694,415 (GRCm39)	I38V	probably benign	Het
Zfp623	T	C	15: 75,820,271 (GRCm39)	I409T	probably damaging	Het
Zfp764l1	T	A	7: 126,991,259 (GRCm39)	M243L	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
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
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
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'- GGTCTCCACAAGCATCTTCCAC -3'
(R):5'- CCAGTTTCATGAGGCGCTTG -3'

Sequencing Primer
(F):5'- ACCCCAATCCTGTGGTGC -3'
(R):5'- CTTGGAGAGTAAGGCCACCTG -3'

Posted On

2019-11-12