Mutagenetix > Incidental Mutation

Incidental Mutation 'R4093:Srl'

317760

Institutional Source

Beutler Lab

Gene Symbol

Srl

Ensembl Gene

ENSMUSG00000022519

Gene Name

sarcalumenin

Synonyms

sarcalumenin, 9830004M20Rik, sar

MMRRC Submission

041627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4093 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4480216-4541816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4497452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 109 (S109P)

Ref Sequence

ENSEMBL: ENSMUSP00000023161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023161] [ENSMUST00000090500]

AlphaFold

Q7TQ48

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023161
AA Change: S109P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: S109P

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	111	125	N/A	INTRINSIC
low complexity region	129	144	N/A	INTRINSIC
low complexity region	283	300	N/A	INTRINSIC
low complexity region	348	374	N/A	INTRINSIC
low complexity region	379	396	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC
Pfam:EHD_N	496	528	1.7e-13	PFAM
Pfam:MMR_HSR1	532	693	1.1e-8	PFAM
Pfam:Dynamin_N	533	694	8.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090500

SMART Domains

Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MMR_HSR1	94	255	4e-12	PFAM
Pfam:Dynamin_N	95	256	1.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230817

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

92% (69/75)

MGI Phenotype

PHENOTYPE: Homozygous null mice exhibit impaired calcium store functions in skeletal and cardiac muscle cells resulting in slow contraction and relaxation phases. Muscle also exhibits enhanced resistance to fatigue. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	A	G	5: 4,043,996	M2173V	probably damaging	Het
Alas1	G	T	9: 106,241,801		probably null	Het
Angpt1	T	C	15: 42,523,545	T138A	probably damaging	Het
Atp2c2	G	A	8: 119,749,871		probably null	Het
C330027C09Rik	T	C	16: 49,000,976		probably benign	Het
Cadm2	A	G	16: 66,784,788	V210A	possibly damaging	Het
Cfap70	A	T	14: 20,409,113	D671E	probably damaging	Het
Chd2	C	T	7: 73,501,016	E322K	possibly damaging	Het
Chrnd	C	T	1: 87,191,007	Q29*	probably null	Het
Cym	A	G	3: 107,214,266	S237P	probably benign	Het
D030068K23Rik	A	G	8: 109,251,459		noncoding transcript	Het
Gsdma2	T	A	11: 98,650,851	S135T	probably benign	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hoxb3	C	A	11: 96,346,100	H335N	probably damaging	Het
Htr2a	G	A	14: 74,706,349	M456I	probably benign	Het
Ighv1-19	G	A	12: 114,708,730	T90I	probably damaging	Het
Kansl3	C	A	1: 36,344,954	S729I	probably damaging	Het
Kcnab1	T	C	3: 65,299,614	I137T	possibly damaging	Het
Kcnt1	A	T	2: 25,877,915	E12V	probably damaging	Het
Klk15	A	T	7: 43,938,780	S171C	possibly damaging	Het
Lcn2	A	T	2: 32,387,716	M1K	probably null	Het
Lrig1	T	C	6: 94,613,578	D487G	probably benign	Het
Lrp8	T	A	4: 107,843,271	C135*	probably null	Het
Lrrc31	C	A	3: 30,695,522	S54I	probably damaging	Het
Ltbp4	A	G	7: 27,325,216	V663A	possibly damaging	Het
Med27	G	A	2: 29,377,908		probably benign	Het
Mical1	T	C	10: 41,486,937		probably benign	Het
Myt1	A	T	2: 181,811,398	M799L	probably damaging	Het
Nlrc4	T	C	17: 74,445,958	M477V	probably benign	Het
Npy4r	T	C	14: 34,147,141	I63M	probably benign	Het
Olfr224	A	T	11: 58,566,829	I172N	probably damaging	Het
Olfr282	T	C	15: 98,437,682	L71P	probably damaging	Het
Olfr672	C	T	7: 104,996,635	G90S	probably benign	Het
Olfr904	T	A	9: 38,464,083	L14Q	probably null	Het
Piezo1	A	C	8: 122,501,160		probably null	Het
Ppp1r12c	T	C	7: 4,483,367	E601G	probably damaging	Het
Proser1	T	C	3: 53,479,712		probably null	Het
Psme2	A	T	14: 55,588,277	N143K	probably benign	Het
Pygo2	C	A	3: 89,433,264	P323Q	probably damaging	Het
Rab11b	T	C	17: 33,749,789	T77A	possibly damaging	Het
Recql5	A	G	11: 115,904,888	S190P	probably benign	Het
Serpina12	A	G	12: 104,037,924	F150L	probably damaging	Het
Sfswap	A	G	5: 129,560,741	S821G	possibly damaging	Het
Slc22a2	C	T	17: 12,612,394	T357M	probably damaging	Het
Spag6l	A	C	16: 16,829,024	N39K	probably benign	Het
Tagap	A	T	17: 7,929,423	H152L	probably damaging	Het
Tbx3	T	A	5: 119,680,748	S463T	probably benign	Het
Tcaf2	A	G	6: 42,642,838	L85P	probably damaging	Het
Tenm4	A	T	7: 96,895,772	S2332C	probably damaging	Het
Trim60	A	T	8: 65,001,378	M73K	probably benign	Het
Trpc1	T	C	9: 95,706,865	T769A	probably benign	Het
Tubgcp4	T	A	2: 121,195,477	L601Q	probably benign	Het
Unc5d	T	C	8: 28,844,837	Y154C	possibly damaging	Het
Vmn1r185	A	T	7: 26,611,783	V99E	probably damaging	Het
Vmn1r57	G	T	7: 5,220,857	S127I	possibly damaging	Het
Vmn1r62	T	A	7: 5,675,944	M208K	probably damaging	Het
Vmn2r110	T	C	17: 20,583,380	D311G	possibly damaging	Het
Vmn2r48	C	A	7: 9,942,258	S432I	probably benign	Het
Vmn2r48	T	A	7: 9,942,259	S432C	probably damaging	Het
Vmn2r71	T	C	7: 85,621,234	V536A	probably benign	Het
Vstm2a	A	G	11: 16,259,884	T37A	probably damaging	Het
Wfs1	T	C	5: 36,967,465	H694R	probably damaging	Het
Zdbf2	T	C	1: 63,309,781	S2440P	possibly damaging	Het
Zfp61	A	G	7: 24,291,275		probably null	Het
Zfp64	T	C	2: 168,925,935	T586A	probably benign	Het
Zfp943	T	A	17: 21,992,982	C350S	probably damaging	Het

Other mutations in Srl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00803:Srl	APN	16	4483220	missense	probably null	1.00
IGL01296:Srl	APN	16	4497682	missense	probably damaging	0.99
IGL02006:Srl	APN	16	4497286	missense	probably benign	0.23
IGL02255:Srl	APN	16	4487558	missense	probably damaging	1.00
IGL02583:Srl	APN	16	4492380	missense	possibly damaging	0.69
R0550:Srl	UTSW	16	4487565	missense	probably damaging	1.00
R0559:Srl	UTSW	16	4496978	missense	probably benign	0.01
R1933:Srl	UTSW	16	4492350	missense	probably damaging	0.99
R2093:Srl	UTSW	16	4523032	missense	unknown
R2298:Srl	UTSW	16	4482898	missense	probably damaging	1.00
R4798:Srl	UTSW	16	4492358	missense	possibly damaging	0.51
R4986:Srl	UTSW	16	4496782	missense	probably benign	0.00
R5088:Srl	UTSW	16	4482769	missense	probably damaging	1.00
R5177:Srl	UTSW	16	4496403	critical splice donor site	probably null
R5260:Srl	UTSW	16	4482895	nonsense	probably null
R5988:Srl	UTSW	16	4523028	missense	unknown
R6875:Srl	UTSW	16	4482831	missense	probably benign	0.02
R6946:Srl	UTSW	16	4482559	missense	probably benign	0.00
R7221:Srl	UTSW	16	4482947	missense	probably damaging	0.99
R7262:Srl	UTSW	16	4497551	missense	probably damaging	0.96
R8307:Srl	UTSW	16	4497145	missense	probably benign	0.01
R8976:Srl	UTSW	16	4483030	missense	probably damaging	1.00
R9193:Srl	UTSW	16	4493859	missense	possibly damaging	0.77
R9424:Srl	UTSW	16	4483167	missense	probably damaging	1.00
R9576:Srl	UTSW	16	4483167	missense	probably damaging	1.00
R9785:Srl	UTSW	16	4496854	missense	probably benign
X0023:Srl	UTSW	16	4492368	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAATTCCTCAGGGACCCCAC -3'
(R):5'- GGAAAGGGCGCTTTATGCAG -3'

Sequencing Primer
(F):5'- ATACTGGCAGCCCCCTCTG -3'
(R):5'- TTTATGCAGATGCGGCCC -3'

Posted On

2015-05-15