Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Smtn'

690242

Institutional Source

Beutler Lab

Gene Symbol

Smtn

Ensembl Gene

ENSMUSG00000020439

Gene Name

smoothelin

Synonyms

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3467522-3489337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3472908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 255 (S255G)

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: S255G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000020718
Gene: ENSMUSG00000020439
AA Change: S255G

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: S740G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020721
Gene: ENSMUSG00000020439
AA Change: S740G

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: S740G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074621
Gene: ENSMUSG00000020439
AA Change: S740G

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: S740G

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105638
Gene: ENSMUSG00000020439
AA Change: S740G

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 damaging
Transcript: ENSMUST00000170588
AA Change: S740G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133155
Gene: ENSMUSG00000020439
AA Change: S740G

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: 99.0%

Validation Efficiency

100% (67/67)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	G	T	8: 44,105,192 (GRCm39)	T151K	probably benign	Het
Adnp2	C	T	18: 80,185,893 (GRCm39)	G27S	probably damaging	Het
Ank3	A	G	10: 69,660,292 (GRCm39)	M265V	probably benign	Het
Aoc1l1	G	A	6: 48,952,428 (GRCm39)	E118K	probably damaging	Het
Apoe	T	C	7: 19,430,597 (GRCm39)	D215G	possibly damaging	Het
Atp5f1b	A	G	10: 127,924,850 (GRCm39)	I438V	probably benign	Het
Bckdha	A	G	7: 25,330,436 (GRCm39)	S387P	probably damaging	Het
Camkk1	T	C	11: 72,924,734 (GRCm39)	F316L	probably damaging	Het
Carmil1	A	G	13: 24,197,179 (GRCm39)	Y158H		Het
Ccdc148	T	C	2: 58,894,054 (GRCm39)	R29G	probably benign	Het
Ccdc39	A	G	3: 33,884,274 (GRCm39)	V356A	probably benign	Het
Cdan1	G	A	2: 120,561,568 (GRCm39)	Q66*	probably null	Het
Ckap4	A	T	10: 84,364,290 (GRCm39)	S258T	probably benign	Het
Col5a2	T	C	1: 45,419,306 (GRCm39)	D1258G	probably benign	Het
Col6a1	G	A	10: 76,552,593 (GRCm39)	P431L	unknown	Het
Cplane1	A	G	15: 8,223,859 (GRCm39)	Y874C	probably damaging	Het
Csn1s2a	A	G	5: 87,933,164 (GRCm39)	I138V	probably benign	Het
Cyp19a1	C	T	9: 54,083,861 (GRCm39)	G176D	probably benign	Het
Dnah10	A	G	5: 124,878,015 (GRCm39)	E2700G	possibly damaging	Het
Eif3l	T	A	15: 78,960,006 (GRCm39)	Y23*	probably null	Het
Fam72a	A	G	1: 131,456,502 (GRCm39)	K22E	probably benign	Het
Golim4	A	G	3: 75,805,351 (GRCm39)	V258A	probably benign	Het
Gtf2ird2	C	T	5: 134,237,739 (GRCm39)	A272V	probably benign	Het
Hpse	T	C	5: 100,846,872 (GRCm39)	T186A	possibly damaging	Het
Ift140	A	T	17: 25,305,862 (GRCm39)	Q816H	probably benign	Het
Iqca1	A	T	1: 90,067,750 (GRCm39)	I167N	probably damaging	Het
Iqgap1	A	T	7: 80,401,141 (GRCm39)	F515L	probably benign	Het
Itgb4	G	A	11: 115,879,295 (GRCm39)	R558H	probably benign	Het
Kcna10	G	A	3: 107,101,419 (GRCm39)	D17N	probably damaging	Het
Kcnj16	A	G	11: 110,915,829 (GRCm39)	I164V	probably damaging	Het
Lrrc55	G	T	2: 85,026,615 (GRCm39)	N136K	probably damaging	Het
Mdm4	A	T	1: 132,940,382 (GRCm39)	M50K	probably benign	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Mindy4	G	A	6: 55,201,115 (GRCm39)	D267N	probably benign	Het
Mllt10	T	A	2: 18,128,617 (GRCm39)	S199R	probably benign	Het
Mms22l	T	C	4: 24,533,029 (GRCm39)	S436P	probably damaging	Het
Mpped2	A	G	2: 106,697,395 (GRCm39)	N290S	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,445 (GRCm39)	L271P	probably benign	Het
Myrf	T	A	19: 10,200,931 (GRCm39)	E247D	probably benign	Het
Ndrg3	A	G	2: 156,782,299 (GRCm39)	I189T	possibly damaging	Het
Nenf	C	T	1: 191,050,148 (GRCm39)	E48K	probably benign	Het
Nlgn2	T	A	11: 69,718,994 (GRCm39)	N232Y	probably damaging	Het
Oog2	G	T	4: 143,920,685 (GRCm39)	M39I	probably benign	Het
Or9r7	A	T	10: 129,962,631 (GRCm39)	N98K	probably benign	Het
Osbpl3	A	T	6: 50,304,371 (GRCm39)	N461K	probably benign	Het
P4ha1	A	G	10: 59,175,130 (GRCm39)	D30G	possibly damaging	Het
Pappa2	A	T	1: 158,590,762 (GRCm39)	C1631S	probably damaging	Het
Pigk	A	G	3: 152,445,871 (GRCm39)	M161V	possibly damaging	Het
Prdm1	G	T	10: 44,317,335 (GRCm39)	S496Y	probably damaging	Het
Prkg2	T	C	5: 99,095,299 (GRCm39)	N624S	possibly damaging	Het
Rgs6	A	G	12: 83,112,733 (GRCm39)	D181G	probably damaging	Het
Sbf2	A	G	7: 110,040,155 (GRCm39)		probably null	Het
Sbno2	A	C	10: 79,898,042 (GRCm39)	L728W	probably damaging	Het
Selenbp2	A	T	3: 94,609,793 (GRCm39)	I310F	probably damaging	Het
Shank3	T	A	15: 89,432,986 (GRCm39)	W1244R	possibly damaging	Het
Slc34a1	A	C	13: 24,004,184 (GRCm39)	I395L	probably benign	Het
Slf1	A	T	13: 77,194,693 (GRCm39)	D877E	probably damaging	Het
Tbx2	T	A	11: 85,725,533 (GRCm39)	D161E	probably damaging	Het
Tex14	C	A	11: 87,324,675 (GRCm39)	L26M	possibly damaging	Het
Traf7	A	G	17: 24,731,286 (GRCm39)	F249S	probably damaging	Het
Trpm6	A	G	19: 18,815,366 (GRCm39)	K1151E	possibly damaging	Het
Ttc7b	A	G	12: 100,268,022 (GRCm39)	V773A	probably benign	Het
Ttn	G	A	2: 76,747,912 (GRCm39)	T4379I	probably benign	Het
Ttn	G	A	2: 76,602,854 (GRCm39)	T18456I	probably damaging	Het
Ttn	G	C	2: 76,709,171 (GRCm39)	L8703V	unknown	Het
Ubb	T	A	11: 62,442,979 (GRCm39)	I3N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,343 (GRCm39)	W116R	probably damaging	Het
Vmn1r75	A	G	7: 11,614,838 (GRCm39)	D190G	probably damaging	Het
Wdr12	T	A	1: 60,130,202 (GRCm39)	M70L	probably benign	Het
Wdr48	C	A	9: 119,740,142 (GRCm39)	T317K	probably damaging	Het
Zbtb5	A	G	4: 44,993,962 (GRCm39)	V474A	probably benign	Het
Zfp128	C	T	7: 12,625,113 (GRCm39)	R494C	possibly 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
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
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'- TGTCACATTGGTACCTTGCATC -3'
(R):5'- GTAGCTCTGTTCCTCCACAAG -3'

Sequencing Primer
(F):5'- TCTGGCTCCAACCACTGAG -3'
(R):5'- GTTCCTCCACAAGTTTCAGTG -3'

Posted On

2021-11-19