Mutagenetix > Incidental Mutation

Incidental Mutation 'R8976:Srl'

683461

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: 0.073) question?

Stock #

R8976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4480216-4541816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4483030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 726 (Y726N)

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: Y726N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: Y726N

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: Y288N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: Y288N

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: 99.5%
20x: 98.4%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	A	G	3: 87,728,014	I906V	probably benign	Het
Atad2b	T	A	12: 4,917,923		probably null	Het
Atr	T	A	9: 95,890,766	D1243E	probably benign	Het
Baiap2l1	A	T	5: 144,286,307	H73Q	probably benign	Het
Bdp1	C	A	13: 100,060,899	G993*	probably null	Het
C87414	T	A	5: 93,638,118	N101I	probably damaging	Het
Cacna2d4	A	T	6: 119,338,157	I883F	possibly damaging	Het
Ccdc151	T	A	9: 21,992,038		probably benign	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Crem	A	G	18: 3,268,088	V80A	possibly damaging	Het
Cyp2j9	T	C	4: 96,591,162	K62E	probably benign	Het
Dnah17	T	A	11: 118,026,840	I4132F	probably damaging	Het
Dnm3	G	A	1: 162,307,936	P423S	probably damaging	Het
Dopey2	G	T	16: 93,762,081	V572L	probably benign	Het
F12	T	A	13: 55,421,964		probably benign	Het
F2	A	G	2: 91,636,393	S2P	probably benign	Het
Fam171a2	T	C	11: 102,438,625	E436G	possibly damaging	Het
Fat1	T	C	8: 45,031,295	V3190A	probably benign	Het
Flnb	A	T	14: 7,901,882		probably null	Het
Frs3	A	T	17: 47,698,621	D9V	probably benign	Het
Galnt17	T	G	5: 130,906,705	E380A	probably benign	Het
Glrb	A	C	3: 80,851,056	V350G	probably damaging	Het
Helz2	T	A	2: 181,234,693	K1336M	possibly damaging	Het
Ifnlr1	T	A	4: 135,701,339	V159E	probably damaging	Het
Igf2r	T	C	17: 12,726,772	E310G	probably damaging	Het
Il2rb	C	T	15: 78,486,481	D145N	probably benign	Het
Iqcb1	A	G	16: 36,871,643	I535V	probably benign	Het
Keap1	A	C	9: 21,231,367	L531V	probably damaging	Het
Lrrc8d	T	A	5: 105,813,091	W456R	probably damaging	Het
Med12l	T	A	3: 59,275,908	H1910Q	probably damaging	Het
Mfsd7a	A	C	5: 108,442,031	S502A	probably benign	Het
Mybphl	G	A	3: 108,365,018	E8K	probably damaging	Het
Olfr1354	T	C	10: 78,917,584	I248T	possibly damaging	Het
Olfr17	T	C	7: 107,098,259	S265P	possibly damaging	Het
Olfr498	T	A	7: 108,465,423	I33N	possibly damaging	Het
Olfr523	T	C	7: 140,176,972	V284A	probably damaging	Het
Olfr837	T	A	9: 19,137,845	M284K	probably damaging	Het
Olig2	A	G	16: 91,226,475	S26G	probably benign	Het
Pcdhb22	G	A	18: 37,518,343		probably benign	Het
Plekha8	A	T	6: 54,630,536	E376V	probably damaging	Het
Polr2a	A	G	11: 69,747,211	V144A	possibly damaging	Het
Prr18	T	C	17: 8,341,215	S68P	probably damaging	Het
Ptprk	G	A	10: 28,585,673	R1153H	probably damaging	Het
Pus1	A	G	5: 110,774,923	F293L	possibly damaging	Het
Shank3	A	G	15: 89,558,178	E1758G	probably damaging	Het
Ska3	A	T	14: 57,820,394	I167N	probably damaging	Het
Ski	A	G	4: 155,157,954	S663P	probably damaging	Het
Spa17	C	T	9: 37,611,958	R11Q	possibly damaging	Het
Spag5	T	C	11: 78,304,587	V240A	probably benign	Het
Ssbp4	A	T	8: 70,599,686		probably null	Het
Surf1	A	T	2: 26,915,755	C48S	probably benign	Het
Tigd3	G	A	19: 5,891,825	P426S	probably benign	Het
Tmem176b	A	G	6: 48,835,666	S122P	probably damaging	Het
Trim23	G	T	13: 104,192,037	L355F	probably damaging	Het
Ttn	G	A	2: 76,714,766	T32664M	probably damaging	Het
Ulk3	T	A	9: 57,594,937		probably benign	Het
Unc80	A	G	1: 66,472,010	H59R	possibly damaging	Het
Vmn1r19	A	G	6: 57,404,734	I91V	probably benign	Het
Vmn2r10	T	A	5: 108,997,613	N543Y	probably damaging	Het
Zbtb14	G	A	17: 69,387,757	R150H	possibly damaging	Het
Zfp831	T	C	2: 174,645,286	Y585H	possibly 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
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
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
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'- AAAGGGCATGAATTCGGACTCG -3'
(R):5'- CAGTGGTTCATCGACAGAGC -3'

Sequencing Primer
(F):5'- CATGAATTCGGACTCGGATGGC -3'
(R):5'- TCCCACAAAGCTGGATGTG -3'

Posted On

2021-10-11