Mutagenetix > Incidental Mutation

Incidental Mutation 'R7221:Srl'

561850

Institutional Source

Beutler Lab

Gene Symbol

Srl

Ensembl Gene

ENSMUSG00000022519

Gene Name

sarcalumenin

Synonyms

sarcalumenin, 9830004M20Rik, sar

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4480216-4541816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4482947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 753 (E753D)

Ref Sequence

ENSEMBL: ENSMUSP00000023161 (fasta)

Gene Model

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

AlphaFold

Q7TQ48

Predicted Effect

probably damaging
Transcript: ENSMUST00000023161
AA Change: E753D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: E753D

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 damaging
Transcript: ENSMUST00000090500
AA Change: E315D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: E315D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	G	3: 108,475,001	D232A	possibly damaging	Het
Abr	A	C	11: 76,423,161	M720R	probably benign	Het
Acad10	G	A	5: 121,630,210	T761M	probably damaging	Het
Agxt	G	T	1: 93,137,901	G164V	possibly damaging	Het
Ankar	C	T	1: 72,650,231	G1247D	probably damaging	Het
Bptf	A	C	11: 107,054,832	L2527R	probably damaging	Het
Brinp2	T	C	1: 158,266,547	H195R	possibly damaging	Het
C130079G13Rik	A	G	3: 59,928,933		probably benign	Het
Cacna2d4	G	T	6: 119,236,663	R14S	probably benign	Het
Cep126	A	T	9: 8,100,987	C515*	probably null	Het
Chia1	A	T	3: 106,131,920	N442I	probably damaging	Het
Clasp2	A	G	9: 113,852,757	D327G	probably damaging	Het
Cnbd2	T	C	2: 156,373,661	F519L	probably benign	Het
Cntrl	T	A	2: 35,151,857	F1214I	possibly damaging	Het
Cul9	A	T	17: 46,528,565	M829K	probably damaging	Het
Cyp4b1	T	C	4: 115,635,978	Q223R	possibly damaging	Het
Defb37	A	T	8: 18,990,972	M1K	probably null	Het
Dnah7c	A	T	1: 46,455,777	Q55L	possibly damaging	Het
Eif2b4	A	T	5: 31,187,787	D463E	possibly damaging	Het
Elovl1	C	T	4: 118,431,614	H167Y	probably damaging	Het
Emb	T	A	13: 117,267,477	L255Q	probably damaging	Het
Eogt	T	C	6: 97,112,724	Y465C	probably damaging	Het
Erc2	A	G	14: 27,653,158	H111R	probably damaging	Het
Fam234b	T	C	6: 135,228,531	F498S	probably damaging	Het
Fgfr3	GAGGCTGGCAGCGTGTACGCAGGC	GAGGC	5: 33,732,748		probably null	Het
Flrt3	T	A	2: 140,661,170	E179D	probably damaging	Het
Fndc3a	T	C	14: 72,556,157	R993G	probably benign	Het
Gm11639	A	G	11: 104,900,606	N2882S	probably benign	Het
Gm13762	A	G	2: 88,973,153	V246A	probably damaging	Het
Gm14325	T	C	2: 177,834,610	T14A	probably damaging	Het
Gm5464	T	A	14: 66,869,232	V106D	unknown	Het
Gm7697	T	G	8: 69,522,664	D50A	probably benign	Het
Gpatch11	T	A	17: 78,842,117	I182N	possibly damaging	Het
Grm6	A	G	11: 50,863,043	R725G	probably damaging	Het
Hap1	A	T	11: 100,348,829	M588K	probably benign	Het
Icam2	A	G	11: 106,382,442	F15L	probably benign	Het
Ints8	A	G	4: 11,225,613	M648T	probably benign	Het
Ipo11	A	T	13: 106,892,557	L296Q	probably damaging	Het
Kirrel	G	A	3: 87,086,397	Q518*	probably null	Het
Krt18	G	T	15: 102,029,532	D155Y	possibly damaging	Het
Lctl	A	T	9: 64,118,935	K91*	probably null	Het
Marf1	C	A	16: 14,142,485	R565L	probably damaging	Het
Med13	A	T	11: 86,288,095	D1458E	probably benign	Het
Mroh8	T	A	2: 157,229,917	Y556F	probably benign	Het
Muc16	C	T	9: 18,642,199	G4266D	probably benign	Het
Nsrp1	A	T	11: 77,048,423	F182I	probably damaging	Het
Obox3	A	T	7: 15,626,058	Y229N	probably benign	Het
Olfr1184	T	A	2: 88,487,629	V299D	probably damaging	Het
Olfr124	A	G	17: 37,805,561	K139E	probably benign	Het
Olfr1247	T	C	2: 89,609,928	Y58C	probably damaging	Het
Olfr1359	T	C	13: 21,703,102	S34P	probably damaging	Het
Olfr26	A	G	9: 38,855,242	Y60C	probably damaging	Het
Olfr746	A	T	14: 50,654,071	Y278F	probably damaging	Het
Pabpc2	T	A	18: 39,773,910	V76D	possibly damaging	Het
Parp9	T	C	16: 35,953,701	W348R	probably benign	Het
Pdp1	T	C	4: 11,961,004	T455A	probably damaging	Het
Phactr2	A	C	10: 13,247,039	D446E	possibly damaging	Het
Pi4kb	T	C	3: 94,994,189	L389P	probably damaging	Het
Pla2g4f	C	T	2: 120,300,995	R749H	probably benign	Het
Plec	A	G	15: 76,175,774	V3321A	probably damaging	Het
Plod2	T	C	9: 92,584,527	V180A	probably damaging	Het
Plppr5	A	G	3: 117,620,969	I80V	probably damaging	Het
Rubcn	T	C	16: 32,866,923		probably null	Het
Sacs	T	C	14: 61,208,806	V2767A	probably damaging	Het
Selenbp2	C	G	3: 94,703,826	Y414*	probably null	Het
Slc45a4	A	T	15: 73,586,410	M430K	probably benign	Het
Smg1	A	G	7: 118,182,797	L1145P	possibly damaging	Het
Spns2	A	G	11: 72,456,916	V316A	probably benign	Het
Thada	T	C	17: 84,464,366	T23A	possibly damaging	Het
Tmem231	T	C	8: 111,933,676	T31A	probably benign	Het
Tpr	C	T	1: 150,446,178	T2321M	possibly damaging	Het
Ttn	T	A	2: 76,941,851	N2615I	unknown	Het
Vmn1r41	A	G	6: 89,747,052	I192V	probably benign	Het
Vmn2r83	A	T	10: 79,480,167	T466S	probably benign	Het
Vnn1	A	G	10: 23,895,054	D60G	probably benign	Het
Wiz	G	A	17: 32,359,165	P449S	probably benign	Het
Zic1	A	G	9: 91,364,732	S96P	probably damaging	Het
Zw10	T	A	9: 49,069,712	S471T	probably benign	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
R4093:Srl	UTSW	16	4497452	missense	possibly damaging	0.93
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
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'- TTCCACAATGTCCTTAAAGACCAG -3'
(R):5'- TGCTCTTCCGCCAACTGAAG -3'

Sequencing Primer
(F):5'- GTTCCCCATCACTGAAGAAGGTC -3'
(R):5'- TTTTGAACAAGGCTGACAACCTGG -3'

Posted On

2019-06-26