Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01866:Smtnl1'

178496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smtnl1

Ensembl Gene

ENSMUSG00000027077

Gene Name

smoothelin-like 1

Synonyms

Chasm, 1110030K22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01866

Quality Score

Status

Chromosome

Chromosomal Location

84641520-84652996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84649089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 55 (C55F)

Ref Sequence

ENSEMBL: ENSMUSP00000028471 (fasta)

Gene Model

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

AlphaFold

Q99LM3

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

possibly damaging
Transcript: ENSMUST00000028471
AA Change: C55F

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: C55F

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	C	4: 144,255,119 (GRCm39)	Y180H	possibly damaging	Het
Abi3bp	A	T	16: 56,492,336 (GRCm39)	I1361L	probably benign	Het
Amph	A	T	13: 19,326,172 (GRCm39)	D634V	probably damaging	Het
Ank1	G	A	8: 23,583,871 (GRCm39)	V317I	possibly damaging	Het
Ap4e1	G	A	2: 126,888,830 (GRCm39)	V460I	possibly damaging	Het
Arhgap19	A	T	19: 41,775,016 (GRCm39)	H198Q	probably benign	Het
Cacna1g	C	T	11: 94,347,937 (GRCm39)	G717D	probably damaging	Het
Camkk2	A	G	5: 122,902,013 (GRCm39)	S99P	probably damaging	Het
Catsperb	T	A	12: 101,475,570 (GRCm39)	Y371*	probably null	Het
Cbl	A	T	9: 44,065,122 (GRCm39)	C735*	probably null	Het
Ccdc146	C	A	5: 21,538,052 (GRCm39)	A91S	probably damaging	Het
Col1a2	G	T	6: 4,524,132 (GRCm39)	D531Y	probably damaging	Het
Dscam	T	A	16: 96,486,550 (GRCm39)	T1042S	probably benign	Het
Dtnb	A	G	12: 3,782,626 (GRCm39)	Y363C	probably benign	Het
Ear10	A	G	14: 44,160,785 (GRCm39)	L14P	probably damaging	Het
Egf	A	G	3: 129,529,529 (GRCm39)	S294P	probably benign	Het
Erbb3	T	C	10: 128,405,237 (GRCm39)	*1340W	probably null	Het
Fam217b	A	G	2: 178,062,224 (GRCm39)	T63A	probably benign	Het
Fig4	G	A	10: 41,108,160 (GRCm39)	P680L	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm6882	T	A	7: 21,161,512 (GRCm39)	I119F	probably damaging	Het
Hdac10	C	A	15: 89,008,736 (GRCm39)	G442W	probably damaging	Het
Mc2r	C	T	18: 68,540,494 (GRCm39)	M266I	possibly damaging	Het
Mep1b	A	G	18: 21,228,050 (GRCm39)	Q551R	probably benign	Het
Mtrf1	T	A	14: 79,638,948 (GRCm39)	C27S	probably benign	Het
Myo5c	T	A	9: 75,176,864 (GRCm39)	M603K	probably benign	Het
Nuf2	A	G	1: 169,326,407 (GRCm39)	L448P	possibly damaging	Het
Or10a49	C	T	7: 108,468,006 (GRCm39)	M118I	possibly damaging	Het
Or1e30	A	T	11: 73,678,654 (GRCm39)	I297L	probably benign	Het
Or2b7	T	C	13: 21,739,343 (GRCm39)	N283S	probably benign	Het
Or8g33	A	T	9: 39,338,025 (GRCm39)	M114K	probably damaging	Het
Ppp2r5c	T	C	12: 110,534,261 (GRCm39)	Y375H	probably benign	Het
Pstpip2	A	G	18: 77,965,325 (GRCm39)	I317M	probably benign	Het
Pxdn	A	G	12: 30,034,570 (GRCm39)	T208A	probably benign	Het
Rab3gap1	C	T	1: 127,818,817 (GRCm39)	H116Y	probably damaging	Het
Rarb	T	A	14: 16,443,751 (GRCm38)	D179V	probably benign	Het
Rasal1	G	A	5: 120,813,488 (GRCm39)	A621T	probably damaging	Het
Rnf6	G	A	5: 146,147,717 (GRCm39)	R434C	probably damaging	Het
Scn10a	C	A	9: 119,464,568 (GRCm39)	E1011*	probably null	Het
Sec24d	C	T	3: 123,087,244 (GRCm39)	Q137*	probably null	Het
Slc35g1	C	A	19: 38,391,642 (GRCm39)	A308E	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stt3a	A	T	9: 36,645,662 (GRCm39)	D676E	probably benign	Het
Sytl2	T	C	7: 90,031,047 (GRCm39)		probably benign	Het
Trabd2b	A	G	4: 114,266,117 (GRCm39)	T44A	probably damaging	Het
Trim12a	T	C	7: 103,953,360 (GRCm39)		probably benign	Het
Tti1	A	T	2: 157,849,618 (GRCm39)	D540E	probably benign	Het
Tubgcp6	A	G	15: 88,987,691 (GRCm39)	V1094A	probably benign	Het
Vmn1r34	A	G	6: 66,614,373 (GRCm39)	Y122H	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp579	T	A	7: 4,997,257 (GRCm39)	Q218L	possibly damaging	Het

Other mutations in Smtnl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:Smtnl1	APN	2	84,649,231 (GRCm39)	missense	probably benign
IGL01702:Smtnl1	APN	2	84,649,034 (GRCm39)	missense	possibly damaging	0.71
IGL01836:Smtnl1	APN	2	84,645,714 (GRCm39)	missense	probably damaging	1.00
IGL01869:Smtnl1	APN	2	84,641,741 (GRCm39)	makesense	probably null
IGL01989:Smtnl1	APN	2	84,648,814 (GRCm39)	missense	probably benign	0.22
IGL02247:Smtnl1	APN	2	84,647,372 (GRCm39)	splice site	probably benign
R1442:Smtnl1	UTSW	2	84,648,780 (GRCm39)	missense	probably damaging	0.97
R4577:Smtnl1	UTSW	2	84,648,787 (GRCm39)	missense	possibly damaging	0.50
R5340:Smtnl1	UTSW	2	84,645,785 (GRCm39)	missense	probably damaging	1.00
R5524:Smtnl1	UTSW	2	84,649,238 (GRCm39)	missense	probably benign	0.05
R5561:Smtnl1	UTSW	2	84,648,739 (GRCm39)	missense	probably benign	0.31
R5631:Smtnl1	UTSW	2	84,649,098 (GRCm39)	missense	probably benign
R5997:Smtnl1	UTSW	2	84,645,722 (GRCm39)	missense	probably damaging	1.00
R6050:Smtnl1	UTSW	2	84,641,797 (GRCm39)	missense	probably damaging	1.00
R6433:Smtnl1	UTSW	2	84,648,712 (GRCm39)	missense	probably benign	0.03
R7011:Smtnl1	UTSW	2	84,648,753 (GRCm39)	missense	probably benign	0.01
R8390:Smtnl1	UTSW	2	84,645,694 (GRCm39)	nonsense	probably null
R8406:Smtnl1	UTSW	2	84,648,742 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07