Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01869:Smtnl1'

178640

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smtnl1

Ensembl Gene

ENSMUSG00000027077

Gene Name

smoothelin-like 1

Synonyms

Chasm, 1110030K22Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01869

Quality Score

Status

Chromosome

Chromosomal Location

84811176-84822652 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 84811397 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 460 (*460R)

Ref Sequence

ENSEMBL: ENSMUSP00000028471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028471] [ENSMUST00000102642]

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 null
Transcript: ENSMUST00000028471
AA Change: *460R

SMART Domains

Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: *460R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102642

SMART Domains

Protein: ENSMUSP00000099702
Gene: ENSMUSG00000027078

Domain	Start	End	E-Value	Type
UBCc	5	149	1.03e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159150

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700026F02Rik	A	G	8: 71,043,045		noncoding transcript	Het
Adam29	T	C	8: 55,871,697	H574R	probably damaging	Het
Arap1	C	A	7: 101,400,283	T984K	probably damaging	Het
Ccdc146	A	T	5: 21,316,839	S396T	probably benign	Het
Col6a3	T	C	1: 90,773,048	K2587E	unknown	Het
Cyp3a44	A	G	5: 145,790,686	S278P	probably damaging	Het
Daw1	T	G	1: 83,182,244		probably benign	Het
Dnah17	T	C	11: 118,052,676	K3200R	probably benign	Het
Efhd2	A	G	4: 141,874,602	F89S	probably damaging	Het
Fras1	A	G	5: 96,708,783		probably benign	Het
Ggps1	T	C	13: 14,054,394	D68G	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm3604	A	T	13: 62,370,140	C134S	probably damaging	Het
Gpaa1	A	G	15: 76,332,998	T178A	probably benign	Het
Lama3	A	G	18: 12,524,763	N312S	possibly damaging	Het
Npepps	T	C	11: 97,236,122	I437M	probably damaging	Het
Olfr1495	A	G	19: 13,769,170	D276G	probably benign	Het
Olfr266	C	T	3: 106,822,026	D178N	probably benign	Het
Rcor1	C	A	12: 111,103,759	T330K	possibly damaging	Het
Sbno2	A	G	10: 80,060,392		probably null	Het
Sema3g	A	G	14: 31,223,667	E478G	probably damaging	Het
Smg9	A	G	7: 24,416,524	D280G	probably damaging	Het
Syde1	A	G	10: 78,588,919	C360R	possibly damaging	Het
Szt2	A	G	4: 118,399,071	V197A	possibly damaging	Het
Tnrc6c	T	C	11: 117,755,448	V1405A	possibly damaging	Het
Ttbk1	A	G	17: 46,447,063	S882P	probably damaging	Het
Tubgcp4	T	A	2: 121,175,788	H116Q	possibly damaging	Het
Vmn1r192	T	A	13: 22,187,580	N157Y	probably damaging	Het
Vmn1r60	C	T	7: 5,544,229	V291M	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Xpo5	C	T	17: 46,242,207	P1184L	possibly damaging	Het
Zfp946	T	G	17: 22,454,703	I146S	probably benign	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
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
R8406:Smtnl1	UTSW	2	84818398	missense	probably benign	0.01

Posted On

2014-05-07