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 essential (E-score: 0.515) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3467522-3489337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3480045 bp (GRCm39)

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] [ENSMUST00000170588] [ENSMUST00000136243] [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: 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

noncoding transcript
Transcript: ENSMUST00000154861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151804

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

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: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Acat3	C	T	17: 13,146,294 (GRCm39)	A230T	probably benign	Het
Acsl1	C	A	8: 46,986,663 (GRCm39)	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,660,383 (GRCm39)	I316N	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
AI429214	T	A	8: 37,461,362 (GRCm39)	V170E	probably benign	Het
Akap13	G	A	7: 75,375,052 (GRCm39)	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,483,439 (GRCm39)	Q190*	probably null	Het
Aox3	C	A	1: 58,197,375 (GRCm39)	Q574K	probably benign	Het
Apeh	A	G	9: 107,962,866 (GRCm39)	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,386,692 (GRCm39)	I151T	probably benign	Het
Arhgap28	A	G	17: 68,176,010 (GRCm39)	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,501,939 (GRCm39)	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,386,476 (GRCm39)	S384P	probably benign	Het
Atl1	G	T	12: 69,978,431 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,722,702 (GRCm39)	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,160,784 (GRCm39)	N164K	probably benign	Het
Bnipl	T	A	3: 95,152,994 (GRCm39)	I162F	probably damaging	Het
Cacna1d	A	T	14: 29,845,120 (GRCm39)	L655I	probably damaging	Het
Canx	T	C	11: 50,195,185 (GRCm39)	I294M	probably damaging	Het
Casz1	T	C	4: 149,030,521 (GRCm39)	F1180S	probably damaging	Het
Cav3	T	C	6: 112,449,344 (GRCm39)	Y121H	probably benign	Het
Cd4	A	C	6: 124,847,499 (GRCm39)	S222A	probably benign	Het
Cds1	T	C	5: 101,960,416 (GRCm39)	I289T	probably benign	Het
Cep112	T	C	11: 108,399,084 (GRCm39)	F328L	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap44	A	T	16: 44,230,838 (GRCm39)	D273V	probably benign	Het
Cfap91	T	C	16: 38,162,124 (GRCm39)	T6A	probably benign	Het
Clec7a	C	T	6: 129,447,918 (GRCm39)	G49D	probably benign	Het
Col22a1	G	A	15: 71,729,102 (GRCm39)	Q599*	probably null	Het
Col6a5	T	A	9: 105,822,799 (GRCm39)	H186L	unknown	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnajc10	G	A	2: 80,181,078 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,670,482 (GRCm39)	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,996,585 (GRCm39)	V365I	probably damaging	Het
Fan1	T	C	7: 63,996,636 (GRCm39)	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Gaa	G	A	11: 119,161,108 (GRCm39)	W50*	probably null	Het
Gm10032	T	C	14: 67,030,227 (GRCm39)		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,752,670 (GRCm39)		probably null	Het
Gprc5b	G	T	7: 118,583,398 (GRCm39)	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,730,383 (GRCm39)	Q394*	probably null	Het
Gucd1	A	G	10: 75,347,922 (GRCm39)	S38P	probably damaging	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hmx3	G	C	7: 131,146,278 (GRCm39)	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,801,802 (GRCm39)	R337*	probably null	Het
Idua	T	A	5: 108,829,304 (GRCm39)	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,286,499 (GRCm39)		probably null	Het
Lasp1	T	A	11: 97,726,960 (GRCm39)	D227E	probably benign	Het
Lhx6	A	G	2: 35,981,336 (GRCm39)	I85T	possibly damaging	Het
Limch1	A	G	5: 67,187,103 (GRCm39)	D840G	probably damaging	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrrtm4	A	T	6: 79,998,722 (GRCm39)	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,832,483 (GRCm39)		probably null	Het
Lyg1	T	C	1: 37,989,755 (GRCm39)	Y44C	probably damaging	Het
Map1a	A	G	2: 121,129,122 (GRCm39)	I129V	probably damaging	Het
Med27	C	T	2: 29,414,442 (GRCm39)	Q150*	probably null	Het
Ms4a5	A	T	19: 11,256,732 (GRCm39)	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,364,479 (GRCm39)	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,628,422 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Niban1	A	C	1: 151,571,886 (GRCm39)	E277A	probably damaging	Het
Niban1	A	G	1: 151,584,884 (GRCm39)	I494V	possibly damaging	Het
Nrn1	A	C	13: 36,914,180 (GRCm39)	V34G	probably damaging	Het
Or4k52	A	G	2: 111,610,841 (GRCm39)	M59V	probably damaging	Het
Or4n5	A	G	14: 50,132,524 (GRCm39)	I245T	probably benign	Het
Or52b1	C	T	7: 104,978,459 (GRCm39)	W313*	probably null	Het
Or56a3	A	G	7: 104,735,822 (GRCm39)	T300A	probably damaging	Het
Or8b39	G	T	9: 37,996,572 (GRCm39)	V147L	probably benign	Het
Or8h9	T	C	2: 86,789,442 (GRCm39)	Y120C	possibly damaging	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pdia4	A	T	6: 47,773,771 (GRCm39)	V526E	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Pgk2	A	G	17: 40,518,400 (GRCm39)	F343L	probably damaging	Het
Piwil1	T	C	5: 128,831,160 (GRCm39)	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169 (GRCm39)	Y341N	possibly damaging	Het
Plch2	T	C	4: 155,083,456 (GRCm39)	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355 (GRCm38)	M692K	probably benign	Het
Rassf8	G	A	6: 145,760,908 (GRCm39)	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,341,027 (GRCm39)	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,496,099 (GRCm39)		probably null	Het
Rpe	T	G	1: 66,755,139 (GRCm39)	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,159,502 (GRCm39)	D36G	probably damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,189,018 (GRCm39)	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,159,330 (GRCm39)	M17L	probably benign	Het
Slit3	T	C	11: 35,579,506 (GRCm39)	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,795,815 (GRCm39)	T193M	probably benign	Het
St8sia3	A	G	18: 64,402,745 (GRCm39)	D128G	probably damaging	Het
Sucla2	A	T	14: 73,830,108 (GRCm39)	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tex44	T	C	1: 86,354,811 (GRCm39)	L240P	probably benign	Het
Tns4	A	T	11: 98,970,904 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,039,758 (GRCm39)	V731E	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,038,358 (GRCm39)	E402G	probably damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,669,195 (GRCm39)	D303G	probably damaging	Het
Ulk1	G	T	5: 110,940,302 (GRCm39)	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,293,033 (GRCm39)	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,651,264 (GRCm39)	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,494,403 (GRCm39)	F78S	probably damaging	Het
Zfp454	A	C	11: 50,764,822 (GRCm39)	S203R	probably benign	Het
Zfp616	C	A	11: 73,976,229 (GRCm39)	Q833K	probably benign	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	Het
Zswim3	T	A	2: 164,661,913 (GRCm39)	I131N	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
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
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'- CGGCCATCCTTGATCTCAATG -3'
(R):5'- AAAAGTTCACATCTGATTCTCCCG -3'

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

Posted On

2014-09-17