Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Srl'

73113

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 #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

4298080-4359680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4315546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 32 (D32G)

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: D32G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: D32G

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,880,864 (GRCm39)	S301P	probably damaging	Het
Adam34	A	G	8: 44,104,178 (GRCm39)	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,655,628 (GRCm39)	T617I	probably damaging	Het
Aggf1	T	C	13: 95,490,479 (GRCm39)	D605G	probably damaging	Het
Atp10a	T	A	7: 58,463,373 (GRCm39)	F969I	probably benign	Het
Becn1	A	T	11: 101,182,277 (GRCm39)	N97K	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Crtac1	A	T	19: 42,272,652 (GRCm39)	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,192,319 (GRCm39)	K412E	probably damaging	Het
Dlg2	T	A	7: 91,589,267 (GRCm39)	I327N	probably damaging	Het
Ehf	T	A	2: 103,098,500 (GRCm39)		probably null	Het
Elavl4	T	C	4: 110,063,809 (GRCm39)	N264S	probably benign	Het
Enpp2	A	T	15: 54,739,065 (GRCm39)	I406N	probably damaging	Het
F10	A	T	8: 13,105,383 (GRCm39)	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,576,177 (GRCm39)	I194T	possibly damaging	Het
Fcgbp	T	C	7: 27,789,072 (GRCm39)	V546A	probably benign	Het
Fras1	A	T	5: 96,821,557 (GRCm39)	Q1438L	probably null	Het
Gm43638	T	C	5: 87,608,451 (GRCm39)	I463V	probably benign	Het
H2-T10	T	C	17: 36,431,602 (GRCm39)	D84G	probably benign	Het
Itpr1	T	C	6: 108,376,322 (GRCm39)	F1262L	probably damaging	Het
Lama1	A	G	17: 68,052,046 (GRCm39)	N335D	probably benign	Het
Lasp1	T	C	11: 97,727,016 (GRCm39)	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,567,345 (GRCm39)	I135L	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mctp2	T	C	7: 71,878,274 (GRCm39)	K268R	probably benign	Het
Nbea	A	T	3: 55,938,957 (GRCm39)	H710Q	probably benign	Het
Notch3	G	A	17: 32,385,731 (GRCm39)	R13C	unknown	Het
Ogfod1	A	T	8: 94,782,299 (GRCm39)		probably benign	Het
Or1j11	A	G	2: 36,311,716 (GRCm39)	Y102C	probably benign	Het
Or5b111	A	G	19: 13,291,490 (GRCm39)	L53P	probably damaging	Het
Or8d2	T	C	9: 38,759,548 (GRCm39)	I46T	probably damaging	Het
Pgm3	A	G	9: 86,443,932 (GRCm39)	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,694,068 (GRCm39)	I681F	probably damaging	Het
Prss23	T	C	7: 89,159,095 (GRCm39)	K325E	possibly damaging	Het
Psmd7	T	A	8: 108,313,249 (GRCm39)		probably benign	Het
Rfx2	T	A	17: 57,115,317 (GRCm39)	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,203,141 (GRCm39)	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,505,875 (GRCm39)	R1029H	probably damaging	Het
Septin10	A	G	10: 59,002,422 (GRCm39)	V391A	probably benign	Het
Skint6	A	G	4: 113,093,637 (GRCm39)	F169L	probably benign	Het
Slc44a4	C	T	17: 35,140,674 (GRCm39)	T289I	probably benign	Het
Spata31e5	T	C	1: 28,816,137 (GRCm39)	I632V	probably benign	Het
Stxbp3-ps	T	A	19: 9,535,256 (GRCm39)		noncoding transcript	Het
Sult1b1	T	C	5: 87,662,815 (GRCm39)	D295G	probably benign	Het
Tmprss7	A	G	16: 45,504,937 (GRCm39)	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589 (GRCm39)	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,285,447 (GRCm39)	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,795,061 (GRCm39)	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690 (GRCm39)	H324R	possibly 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
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
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

2013-10-07