Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Srl'

564708

Institutional Source

Beutler Lab

Gene Symbol

Srl

Ensembl Gene

ENSMUSG00000022519

Gene Name

sarcalumenin

Synonyms

sarcalumenin, sar, 9830004M20Rik

MMRRC Submission

045353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4298080-4359680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4315415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 76 (A76S)

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: A76S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: A76S

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,946,137 (GRCm39)		probably null	Het
Adh5	C	A	3: 138,151,133 (GRCm39)	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,213,762 (GRCm39)	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,434,091 (GRCm39)	S92P	unknown	Het
Carnmt1	A	T	19: 18,655,228 (GRCm39)	N127I	probably benign	Het
Ccdc42	A	G	11: 68,485,399 (GRCm39)	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,002,680 (GRCm39)	E797G	probably damaging	Het
Cep112	T	A	11: 108,555,467 (GRCm39)	V821D	probably damaging	Het
Cpvl	A	T	6: 53,909,500 (GRCm39)	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 104,940,062 (GRCm39)	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,875,176 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,091,605 (GRCm39)	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,512,298 (GRCm39)		probably null	Het
Ddx55	T	C	5: 124,704,919 (GRCm39)	L396P	probably benign	Het
Dhx34	G	A	7: 15,937,623 (GRCm39)	A786V	probably benign	Het
Efcab3	G	A	11: 104,745,432 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,768,474 (GRCm39)	L943*	probably null	Het
Epm2aip1	A	G	9: 111,101,728 (GRCm39)	T234A	probably benign	Het
Flot2	T	C	11: 77,948,175 (GRCm39)	M145T	probably damaging	Het
Fn3k	T	C	11: 121,339,741 (GRCm39)	F168L	probably damaging	Het
Gmfb	A	T	14: 47,052,386 (GRCm39)	C87S	probably damaging	Het
H2-M3	T	C	17: 37,582,084 (GRCm39)	F180S	probably damaging	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Hdac3	C	T	18: 38,078,616 (GRCm39)	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,641,712 (GRCm39)	E37G	possibly damaging	Het
Jmjd7	A	G	2: 119,862,467 (GRCm39)	H283R	probably benign	Het
Kif26b	T	C	1: 178,745,219 (GRCm39)	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,801,546 (GRCm39)	T70A	probably damaging	Het
Kntc1	C	A	5: 123,925,036 (GRCm39)	D1116E	probably benign	Het
Lama4	T	A	10: 38,970,930 (GRCm39)	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,217,296 (GRCm39)	T102S	probably benign	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Ltbp1	G	T	17: 75,671,363 (GRCm39)	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,006,715 (GRCm39)	V1149A	probably damaging	Het
Or10q1	A	T	19: 13,726,535 (GRCm39)	T22S	probably benign	Het
Or4f6	A	G	2: 111,838,902 (GRCm39)	S210P	probably damaging	Het
Or52ad1	T	C	7: 102,995,764 (GRCm39)	R124G	probably damaging	Het
Pak4	C	A	7: 28,264,625 (GRCm39)	M92I	possibly damaging	Het
Pam	T	C	1: 97,782,448 (GRCm39)	K157R		Het
Pcdh9	A	T	14: 93,253,141 (GRCm39)	V1174E	probably benign	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,069 (GRCm39)	D615G	probably benign	Het
Senp1	A	T	15: 97,964,379 (GRCm39)	D278E	probably benign	Het
Serpinc1	A	G	1: 160,817,229 (GRCm39)	N108D	probably damaging	Het
Tbc1d16	C	A	11: 119,045,921 (GRCm39)	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,426,820 (GRCm39)	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,570,735 (GRCm39)	L339P	probably damaging	Het
Tmem232	A	T	17: 65,807,112 (GRCm39)	I27N	probably benign	Het
Ubr2	T	C	17: 47,311,665 (GRCm39)	D62G	probably damaging	Het
Vcan	T	G	13: 89,853,280 (GRCm39)	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,005,579 (GRCm39)	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,489,430 (GRCm39)	I701K	probably benign	Het

Other mutations in Srl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00803:Srl	APN	16	4,301,084 (GRCm39)	missense	probably null	1.00
IGL01296:Srl	APN	16	4,315,546 (GRCm39)	missense	probably damaging	0.99
IGL02006:Srl	APN	16	4,315,150 (GRCm39)	missense	probably benign	0.23
IGL02255:Srl	APN	16	4,305,422 (GRCm39)	missense	probably damaging	1.00
IGL02583:Srl	APN	16	4,310,244 (GRCm39)	missense	possibly damaging	0.69
R0550:Srl	UTSW	16	4,305,429 (GRCm39)	missense	probably damaging	1.00
R0559:Srl	UTSW	16	4,314,842 (GRCm39)	missense	probably benign	0.01
R1933:Srl	UTSW	16	4,310,214 (GRCm39)	missense	probably damaging	0.99
R2093:Srl	UTSW	16	4,340,896 (GRCm39)	missense	unknown
R2298:Srl	UTSW	16	4,300,762 (GRCm39)	missense	probably damaging	1.00
R4093:Srl	UTSW	16	4,315,316 (GRCm39)	missense	possibly damaging	0.93
R4798:Srl	UTSW	16	4,310,222 (GRCm39)	missense	possibly damaging	0.51
R4986:Srl	UTSW	16	4,314,646 (GRCm39)	missense	probably benign	0.00
R5088:Srl	UTSW	16	4,300,633 (GRCm39)	missense	probably damaging	1.00
R5177:Srl	UTSW	16	4,314,267 (GRCm39)	critical splice donor site	probably null
R5260:Srl	UTSW	16	4,300,759 (GRCm39)	nonsense	probably null
R5988:Srl	UTSW	16	4,340,892 (GRCm39)	missense	unknown
R6875:Srl	UTSW	16	4,300,695 (GRCm39)	missense	probably benign	0.02
R6946:Srl	UTSW	16	4,300,423 (GRCm39)	missense	probably benign	0.00
R7221:Srl	UTSW	16	4,300,811 (GRCm39)	missense	probably damaging	0.99
R8307:Srl	UTSW	16	4,315,009 (GRCm39)	missense	probably benign	0.01
R8976:Srl	UTSW	16	4,300,894 (GRCm39)	missense	probably damaging	1.00
R9193:Srl	UTSW	16	4,311,723 (GRCm39)	missense	possibly damaging	0.77
R9424:Srl	UTSW	16	4,301,031 (GRCm39)	missense	probably damaging	1.00
R9576:Srl	UTSW	16	4,301,031 (GRCm39)	missense	probably damaging	1.00
R9785:Srl	UTSW	16	4,314,718 (GRCm39)	missense	probably benign
X0023:Srl	UTSW	16	4,310,232 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTGAACTGTGGCCTCTCTTC -3'
(R):5'- CCCTGTGAACTGACCAATCATG -3'

Sequencing Primer
(F):5'- GAACTGTGGCCTCTCTTCTTCTGG -3'
(R):5'- GTGAACTGACCAATCATGTTCTAATC -3'

Posted On

2019-06-26