Mutagenetix > Incidental Mutation

Incidental Mutation 'R5524:Smtnl1'

431728

Institutional Source

Beutler Lab

Gene Symbol

Smtnl1

Ensembl Gene

ENSMUSG00000027077

Gene Name

smoothelin-like 1

Synonyms

Chasm, 1110030K22Rik

MMRRC Submission

043082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84641520-84652996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84649238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 5 (E5D)

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

probably benign
Transcript: ENSMUST00000028471
AA Change: E5D

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028471
Gene: ENSMUSG00000027077
AA Change: E5D

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

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (76/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	A	7: 82,503,150 (GRCm39)		noncoding transcript	Het
6030469F06Rik	A	G	12: 31,234,862 (GRCm39)		noncoding transcript	Het
A830031A19Rik	T	A	11: 24,008,776 (GRCm39)	I13F	unknown	Het
Acsbg2	A	C	17: 57,157,197 (GRCm39)	L309R	probably damaging	Het
Adam32	A	T	8: 25,412,328 (GRCm39)	M76K	probably damaging	Het
Adamts14	C	A	10: 61,066,222 (GRCm39)	R297L	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Asb14	A	G	14: 26,622,408 (GRCm39)	K80E	possibly damaging	Het
Baiap2l1	T	C	5: 144,217,759 (GRCm39)	T276A	probably benign	Het
Cacna1d	G	A	14: 29,764,086 (GRCm39)	P2127S	probably benign	Het
Ces2g	A	G	8: 105,693,527 (GRCm39)	T403A	probably benign	Het
Cgn	A	C	3: 94,687,299 (GRCm39)	M1R	probably null	Het
Chd5	T	G	4: 152,461,087 (GRCm39)	S1226A	probably benign	Het
Col18a1	A	G	10: 76,894,558 (GRCm39)	V1497A	probably damaging	Het
Cpd	A	T	11: 76,688,727 (GRCm39)	Y848*	probably null	Het
Cyp2a12	T	C	7: 26,730,656 (GRCm39)	V207A	probably benign	Het
Cyth1	G	A	11: 118,073,593 (GRCm39)	R247W	probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eml1	A	T	12: 108,487,635 (GRCm39)	I518L	probably damaging	Het
Eri1	A	G	8: 35,945,763 (GRCm39)	V174A	probably benign	Het
Fgd3	T	A	13: 49,431,053 (GRCm39)	I435F	probably damaging	Het
Foxd1	T	G	13: 98,492,412 (GRCm39)	S429A	unknown	Het
Ftcd	T	A	10: 76,425,165 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,553,102 (GRCm39)	N323K	probably benign	Het
Gnpda1	G	T	18: 38,468,161 (GRCm39)	P45Q	probably damaging	Het
Kif20a	G	T	18: 34,763,678 (GRCm39)		probably null	Het
Klrb1	T	C	6: 128,689,296 (GRCm39)		probably null	Het
Lcorl	C	A	5: 45,932,864 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,932,865 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,000,900 (GRCm39)	K2108M	probably damaging	Het
Lyst	C	T	13: 13,921,364 (GRCm39)	P3437S	probably benign	Het
Macrod2	A	T	2: 142,159,863 (GRCm39)	M349L	possibly damaging	Het
Marchf7	T	C	2: 60,075,647 (GRCm39)		probably benign	Het
Mcm9	A	T	10: 53,424,786 (GRCm39)	C601*	probably null	Het
Muc19	G	T	15: 91,778,587 (GRCm39)		noncoding transcript	Het
Mycbp2	T	C	14: 103,532,673 (GRCm39)	D427G	probably damaging	Het
Nap1l5	C	A	6: 58,883,763 (GRCm39)	V64L	possibly damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Npas3	T	C	12: 54,115,721 (GRCm39)	V863A	possibly damaging	Het
Nr2c2	T	A	6: 92,116,746 (GRCm39)		probably null	Het
Oosp3	T	C	19: 11,682,794 (GRCm39)	F56S	possibly damaging	Het
Or1a1b	A	T	11: 74,097,409 (GRCm39)	L211Q	probably damaging	Het
Or5k17	C	T	16: 58,746,172 (GRCm39)	C254Y	probably benign	Het
Or8g20	C	T	9: 39,396,283 (GRCm39)	V89M	probably damaging	Het
Plgrkt	G	A	19: 29,327,850 (GRCm39)	P78S	probably damaging	Het
Prss36	G	A	7: 127,533,637 (GRCm39)	Q56*	probably null	Het
Ptprz1	A	G	6: 22,986,317 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,107,699 (GRCm39)	F265I	probably damaging	Het
R3hcc1l	G	T	19: 42,552,307 (GRCm39)	E435*	probably null	Het
Shbg	T	C	11: 69,507,588 (GRCm39)	D163G	probably benign	Het
Skint7	T	A	4: 111,837,546 (GRCm39)	L108H	probably damaging	Het
Spock1	C	T	13: 57,704,608 (GRCm39)	G120D	probably damaging	Het
Stk11ip	G	T	1: 75,508,971 (GRCm39)	C700F	probably damaging	Het
Sult4a1	C	T	15: 83,974,159 (GRCm39)		probably null	Het
Syngap1	A	G	17: 27,176,126 (GRCm39)	H138R	probably damaging	Het
Tdrd7	A	G	4: 46,034,301 (GRCm39)	K1016E	probably benign	Het
Tmem167b	T	C	3: 108,467,569 (GRCm39)	K26E	possibly damaging	Het
Tnfaip3	A	G	10: 18,883,943 (GRCm39)	S146P	probably damaging	Het
Ttn	C	T	2: 76,607,060 (GRCm39)	V16242I	possibly damaging	Het
Vmn2r-ps3	T	A	3: 63,960,870 (GRCm39)		noncoding transcript	Het
Vps13c	T	C	9: 67,864,838 (GRCm39)	F3049S	probably damaging	Het
Vstm2l	T	C	2: 157,777,355 (GRCm39)	W78R	probably damaging	Het
Wbp1l	C	A	19: 46,642,695 (GRCm39)	A216D	possibly damaging	Het
Zer1	C	G	2: 29,994,866 (GRCm39)	V510L	probably damaging	Het
Zfp28	A	T	7: 6,397,850 (GRCm39)		probably null	Het
Zfp352	C	A	4: 90,113,341 (GRCm39)	P494T	possibly damaging	Het
Zfp353-ps	A	G	8: 42,535,600 (GRCm39)		noncoding transcript	Het
Zfp563	A	T	17: 33,321,515 (GRCm39)		probably null	Het
Zim1	T	C	7: 6,680,320 (GRCm39)	N448D	probably benign	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
IGL01866:Smtnl1	APN	2	84,649,089 (GRCm39)	missense	possibly damaging	0.80
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
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

Predicted Primers

PCR Primer
(F):5'- TTCGCCACTCTTAGATGCTG -3'
(R):5'- AGTCAATATGCTCCAACTGCCC -3'

Sequencing Primer
(F):5'- GATGCTGCTTTACACAAATGTTCTGC -3'
(R):5'- ATCTTTCTGATTTCCACAGGGAGAG -3'

Posted On

2016-10-05