Mutagenetix > Incidental Mutation

Incidental Mutation 'R8307:Srl'

641161

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 #

R8307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4480216-4541816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4497145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 211 (I211T)

Ref Sequence

ENSEMBL: ENSMUSP00000023161 (fasta)

Gene Model

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

AlphaFold

Q7TQ48

Predicted Effect

probably benign
Transcript: ENSMUST00000023161
AA Change: I211T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: I211T

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

Coding Region Coverage

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

Validation Efficiency

100% (56/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	A	4: 147,941,380	T119K	probably benign	Het
Abca13	T	A	11: 9,277,922	L655*	probably null	Het
Aifm2	A	G	10: 61,726,392	Y69C	probably damaging	Het
Atp2c1	C	T	9: 105,442,831	V448I	probably benign	Het
Barx2	A	G	9: 31,859,011	S74P	probably damaging	Het
Bod1l	T	C	5: 41,821,155	K939E	probably damaging	Het
Cdh12	C	A	15: 21,358,863	F124L	probably benign	Het
Cdh12	T	A	15: 21,358,864	Y125N	probably damaging	Het
Cdx2	A	G	5: 147,306,667	Y106H	possibly damaging	Het
Chmp1a	C	T	8: 123,206,241	G158S	probably damaging	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Cntnap1	A	T	11: 101,188,876	Y1277F	possibly damaging	Het
Csde1	A	G	3: 103,039,073		probably benign	Het
Dennd4c	A	C	4: 86,825,872	D1317A	probably benign	Het
Dgcr2	C	T	16: 17,858,378	G176D	probably benign	Het
Dock2	A	T	11: 34,310,362	M993K	possibly damaging	Het
Dpy19l1	G	A	9: 24,503,001	P44S	probably benign	Het
Dsg2	C	T	18: 20,575,064	P74L	probably benign	Het
Epg5	T	A	18: 78,022,679	F2078Y	probably damaging	Het
Fam208a	G	T	14: 27,471,665	A941S	probably damaging	Het
Fancl	A	G	11: 26,399,642		probably benign	Het
Fbn1	C	A	2: 125,505,482	R41L	possibly damaging	Het
Gemin5	G	A	11: 58,151,594	T467M	probably damaging	Het
Gm6205	T	G	5: 94,683,557	L141R	probably damaging	Het
Hexb	T	C	13: 97,194,199	Q102R	probably benign	Het
Hmcn2	A	G	2: 31,396,115	D2093G	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Igkv1-131	A	G	6: 67,766,067	Y111H	probably damaging	Het
Il6st	G	T	13: 112,487,747	G177V	probably benign	Het
Kank4	G	A	4: 98,778,678	Q511*	probably null	Het
Krt90	A	G	15: 101,559,199	L248P	probably damaging	Het
Krtap5-2	A	G	7: 142,174,849	C187R	unknown	Het
Lonp1	C	A	17: 56,626,573	A101S	probably benign	Het
Nckap5l	A	G	15: 99,423,177	C1241R	probably damaging	Het
Olfr1205	G	A	2: 88,831,289	M57I	possibly damaging	Het
Olfr339	A	G	2: 36,422,321	T308A	probably benign	Het
Olfr772	T	C	10: 129,174,232	D263G	probably benign	Het
Pcdh15	T	A	10: 74,506,475	C1131*	probably null	Het
Pcdhgc3	A	G	18: 37,807,794	D416G	probably damaging	Het
Pikfyve	T	C	1: 65,245,735	M786T	possibly damaging	Het
Pink1	A	T	4: 138,317,962	M297K	probably benign	Het
Pln	T	C	10: 53,343,879	Y6H	unknown	Het
Ppp2r2c	A	G	5: 36,947,086	D270G	probably damaging	Het
Prcd	A	T	11: 116,659,373	T76S	possibly damaging	Het
Pxylp1	A	G	9: 96,839,084		probably null	Het
Rab11fip4	A	T	11: 79,690,774	N532Y	possibly damaging	Het
Ralgapa1	C	A	12: 55,741,523	V592L	probably damaging	Het
Robo2	T	C	16: 73,956,610	D793G	probably damaging	Het
Sec14l1	G	A	11: 117,143,416		probably null	Het
Srcap	T	A	7: 127,525,369	V237E	probably damaging	Het
Tet3	A	G	6: 83,379,927	V883A	probably damaging	Het
Trim46	A	G	3: 89,243,916	Y113H	probably benign	Het
Trim58	G	A	11: 58,647,083	A267T	probably benign	Het
Tsks	G	A	7: 44,957,662	G140S		Het
Vmn2r110	C	A	17: 20,583,057	V419L	probably benign	Het
Vmn2r66	A	G	7: 85,007,062	F249L	probably benign	Het
Vps8	A	C	16: 21,495,902	D584A	probably benign	Het
Zfp605	T	A	5: 110,128,197	C394S	probably damaging	Het
Zscan4e	A	G	7: 11,307,132	I271T	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
R7221:Srl	UTSW	16	4482947	missense	probably damaging	0.99
R7262:Srl	UTSW	16	4497551	missense	probably damaging	0.96
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'- AGAGGCTGCATGTAGGTCTG -3'
(R):5'- TTCAGTTCTGGGAAGGAGCC -3'

Sequencing Primer
(F):5'- GTGATCAGGCCCGGGAGTG -3'
(R):5'- CTGGGAAGGAGCCAGGGC -3'

Posted On

2020-07-28