Mutagenetix > Incidental Mutations

Incidental Mutation 'R8406:Smtnl1'

652391

Institutional Source

Beutler Lab

Gene Symbol

Smtnl1

Ensembl Gene

ENSMUSG00000027077

Gene Name

smoothelin-like 1

Synonyms

Chasm, 1110030K22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84811176-84822652 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84818398 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 171 (E171K)

Ref Sequence

ENSEMBL: ENSMUSP00000028471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028471]

PDB Structure

The Solution Structure of Calponin Homology Domain from Smoothelin-like 1 [SOLUTION NMR]
HADDOCK-derived structure of the CH-domain of the smoothelin-like 1 complexed with the C-domain of apocalmodulin [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000028471
AA Change: E171K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: E171K

Domain	Start	End	E-Value	Type
low complexity region	56	72	N/A	INTRINSIC
coiled coil region	124	154	N/A	INTRINSIC
low complexity region	218	230	N/A	INTRINSIC
low complexity region	236	246	N/A	INTRINSIC
low complexity region	260	285	N/A	INTRINSIC
CH	345	444	5.55e-18	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit vascular and muscular adaptations normally found in exercised animals as well as increased exercise endurance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Abca8a	A	G	11: 110,086,517	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,467,338	D288E	probably benign	Het
Agbl1	A	G	7: 76,418,667	E327G		Het
Aipl1	T	A	11: 72,031,506	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Arl3	A	T	19: 46,542,384	S157T	probably benign	Het
Armc3	A	T	2: 19,235,554	I41F	probably damaging	Het
Atg9a	A	C	1: 75,190,384	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,203,157	H509Q	probably benign	Het
Cabyr	C	A	18: 12,750,747	T97K	probably benign	Het
Ccdc91	T	C	6: 147,537,422	F174S	possibly damaging	Het
Cep350	A	T	1: 155,922,418	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,462,177	N40K	probably damaging	Het
Col4a4	G	A	1: 82,523,890	P381S	unknown	Het
Cpne5	A	T	17: 29,209,481	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,287,016	T457A	probably benign	Het
Cyb5d2	T	C	11: 72,789,133	E112G	probably benign	Het
Cyp2b13	T	C	7: 26,081,798	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779	S134A	probably benign	Het
Egln1	A	G	8: 124,911,750	Y380H	probably benign	Het
Fam160a1	G	T	3: 85,672,720	P726Q	probably benign	Het
Fbxl13	A	T	5: 21,523,654	I479N	probably damaging	Het
Fis1	A	G	5: 136,963,011	K20E	probably benign	Het
Foxk1	G	T	5: 142,401,773	V84L	unknown	Het
Gdf5	C	A	2: 155,942,352	G227W	probably damaging	Het
Ghrh	T	A	2: 157,333,736	T13S	probably benign	Het
Gnb2	A	G	5: 137,528,603	L308P	probably damaging	Het
Grik2	A	T	10: 49,272,767	V574D	probably damaging	Het
Hydin	A	T	8: 110,609,911	I5107F	possibly damaging	Het
Kl	A	T	5: 150,982,764	Y533F	probably benign	Het
Man2b1	G	T	8: 85,096,278	R816L	probably damaging	Het
Myo5c	T	C	9: 75,275,541	Y821H	probably damaging	Het
Myo7b	A	T	18: 31,959,813	C2076S	probably damaging	Het
Naip6	C	T	13: 100,300,276	A580T	possibly damaging	Het
Nectin2	A	T	7: 19,738,350	V38E	probably damaging	Het
Olfr538	A	T	7: 140,574,131		probably benign	Het
Osbpl9	T	C	4: 109,064,573	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,756,549	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,699,112	K2149E	probably benign	Het
Pds5a	A	T	5: 65,646,338	C588S	probably benign	Het
Pop1	T	C	15: 34,529,170	M812T	probably benign	Het
Pou2f3	T	C	9: 43,139,858	T178A	probably damaging	Het
Rab44	C	T	17: 29,140,320	A494V	unknown	Het
Ros1	G	C	10: 52,101,845	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,051,985	F644L	probably damaging	Het
Saraf	C	T	8: 34,165,448	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,691,437	E383D	probably damaging	Het
Sh3rf3	T	C	10: 59,083,585	V508A	probably damaging	Het
Sirt6	A	T	10: 81,622,494	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,589,780	I119F	probably damaging	Het
Spg11	T	A	2: 122,093,442	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,200,840	W894R	probably damaging	Het
Tiam2	A	C	17: 3,507,790	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,292,695	L190P	probably damaging	Het
Trim35	C	T	14: 66,297,275	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,940,024	Y546H	probably benign	Het
Ubash3b	C	T	9: 41,029,675	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,870,432	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,710,355	L60Q	probably damaging	Het
Ythdf2	A	G	4: 132,204,635	W405R	probably damaging	Het
Zfp775	T	C	6: 48,620,703	C504R	probably damaging	Het
Zfp82	A	G	7: 30,062,227		probably null	Het
Zpr1	T	A	9: 46,274,102	I127N	probably damaging	Het

Other mutations in Smtnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Smtnl1	APN	2	84818887	missense	probably benign
IGL01702:Smtnl1	APN	2	84818690	missense	possibly damaging	0.71
IGL01836:Smtnl1	APN	2	84815370	missense	probably damaging	1.00
IGL01866:Smtnl1	APN	2	84818745	missense	possibly damaging	0.80
IGL01869:Smtnl1	APN	2	84811397	makesense	probably null
IGL01989:Smtnl1	APN	2	84818470	missense	probably benign	0.22
IGL02247:Smtnl1	APN	2	84817028	splice site	probably benign
R1442:Smtnl1	UTSW	2	84818436	missense	probably damaging	0.97
R4577:Smtnl1	UTSW	2	84818443	missense	possibly damaging	0.50
R5340:Smtnl1	UTSW	2	84815441	missense	probably damaging	1.00
R5524:Smtnl1	UTSW	2	84818894	missense	probably benign	0.05
R5561:Smtnl1	UTSW	2	84818395	missense	probably benign	0.31
R5631:Smtnl1	UTSW	2	84818754	missense	probably benign
R5997:Smtnl1	UTSW	2	84815378	missense	probably damaging	1.00
R6050:Smtnl1	UTSW	2	84811453	missense	probably damaging	1.00
R6433:Smtnl1	UTSW	2	84818368	missense	probably benign	0.03
R7011:Smtnl1	UTSW	2	84818409	missense	probably benign	0.01
R8390:Smtnl1	UTSW	2	84815350	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTCAGGCAGGAGTTGATTC -3'
(R):5'- GCATCTAAGAGTGGCGAATCAG -3'

Sequencing Primer
(F):5'- TCAGGCAGGAGTTGATTCTAGAG -3'
(R):5'- TTCTCAGGAAGACACTGGTAAG -3'

Posted On

2020-10-20