Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02583:Srl'

299445

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srl

Ensembl Gene

ENSMUSG00000022519

Gene Name

sarcalumenin

Synonyms

sarcalumenin, sar, 9830004M20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02583

Quality Score

Status

Chromosome

Chromosomal Location

4298080-4359680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4310244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 495 (Q495R)

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: Q495R

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: Q495R

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
AA Change: Q57R

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: Q57R

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	C	T	5: 26,684,717 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,392 (GRCm39)	D140E	possibly damaging	Het
Bod1l	C	T	5: 41,973,550 (GRCm39)		probably null	Het
Brms1	T	A	19: 5,096,206 (GRCm39)	V61D	probably damaging	Het
Card11	A	T	5: 140,863,881 (GRCm39)	N952K	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cimap2	A	T	4: 106,468,602 (GRCm39)		probably benign	Het
Col15a1	T	C	4: 47,279,866 (GRCm39)	V697A	probably benign	Het
Col7a1	A	T	9: 108,791,297 (GRCm39)	I1118F	unknown	Het
Cyfip2	T	C	11: 46,140,585 (GRCm39)	E746G	possibly damaging	Het
Dach1	A	G	14: 98,065,830 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,270,370 (GRCm39)	G1023W	possibly damaging	Het
Fbxo10	T	C	4: 45,044,754 (GRCm39)	D453G	probably damaging	Het
Fhad1	T	C	4: 141,738,955 (GRCm39)		probably benign	Het
Gm17415	A	G	1: 93,349,801 (GRCm39)		probably benign	Het
Gm4781	A	T	10: 100,232,507 (GRCm39)		noncoding transcript	Het
Gpatch2	A	C	1: 186,965,514 (GRCm39)		probably null	Het
Gpatch2	G	T	1: 186,965,515 (GRCm39)		probably null	Het
Greb1	A	G	12: 16,756,296 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,542,362 (GRCm39)	Y1319C	probably damaging	Het
Ice1	C	T	13: 70,753,854 (GRCm39)	R744H	possibly damaging	Het
Kcnq2	T	A	2: 180,723,295 (GRCm39)	S694C	probably benign	Het
Krt35	C	A	11: 99,983,360 (GRCm39)	V448L	possibly damaging	Het
Lmo7	A	G	14: 102,171,360 (GRCm39)		probably benign	Het
Megf8	T	C	7: 25,055,218 (GRCm39)	S1984P	probably benign	Het
Nlrp1a	T	C	11: 71,014,227 (GRCm39)	Q341R	probably benign	Het
Or1p1	T	A	11: 74,180,330 (GRCm39)	L286Q	probably damaging	Het
Or51a6	T	C	7: 102,603,918 (GRCm39)	T297A	possibly damaging	Het
Osr1	C	T	12: 9,629,675 (GRCm39)	H183Y	probably damaging	Het
Paf1	T	C	7: 28,095,596 (GRCm39)	V202A	probably damaging	Het
Pde10a	A	G	17: 9,200,462 (GRCm39)	K1071E	probably benign	Het
Pwp2	T	C	10: 78,016,917 (GRCm39)	R268G	probably benign	Het
Rwdd1	T	A	10: 33,877,669 (GRCm39)	K178*	probably null	Het
Scn10a	A	T	9: 119,520,506 (GRCm39)		probably benign	Het
Sema3g	A	G	14: 30,943,476 (GRCm39)		probably null	Het
Slc22a6	C	A	19: 8,600,980 (GRCm39)	A391E	possibly damaging	Het
Slc41a3	G	A	6: 90,621,153 (GRCm39)	G372S	probably damaging	Het
Sqor	G	T	2: 122,641,690 (GRCm39)	K3N	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stxbp3	G	T	3: 108,708,187 (GRCm39)	D371E	probably damaging	Het
Tnfrsf19	C	A	14: 61,261,659 (GRCm39)	V47F	probably damaging	Het
Usp11	A	T	X: 20,584,284 (GRCm39)	E622V	probably benign	Het
Vmn1r52	T	A	6: 90,156,126 (GRCm39)	Y143*	probably null	Het
Zfp280d	A	G	9: 72,229,727 (GRCm39)		probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zmat1	T	C	X: 133,874,021 (GRCm39)	T457A	probably damaging	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
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
R7262:Srl	UTSW	16	4,315,415 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2015-04-16