Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Srl'

387601

Institutional Source

Beutler Lab

Gene Symbol

Srl

Ensembl Gene

ENSMUSG00000022519

Gene Name

sarcalumenin

Synonyms

sarcalumenin, 9830004M20Rik, sar

MMRRC Submission

042677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4480216-4541816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4482769 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 375 (D375Y)

Ref Sequence

ENSEMBL: ENSMUSP00000087986 (fasta)

Gene Model

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

AlphaFold

Q7TQ48

Predicted Effect

probably damaging
Transcript: ENSMUST00000023161
AA Change: D813Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: D813Y

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: D375Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: D375Y

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: ENSMUST00000133440

Meta Mutation Damage Score

0.1459

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,073	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,305,740	R246G	probably benign	Het
Aak1	T	C	6: 86,944,480		probably null	Het
Abcc5	A	G	16: 20,376,662	L695P	probably damaging	Het
Alcam	T	A	16: 52,288,927	T328S	probably damaging	Het
Alpk1	A	G	3: 127,685,320		probably benign	Het
Arel1	A	G	12: 84,924,115	L642P	probably damaging	Het
Atrip	T	C	9: 109,059,896	D741G	probably damaging	Het
Bmp1	T	C	14: 70,486,219	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,894,608		probably null	Het
Cacng5	C	G	11: 107,877,389	C264S	possibly damaging	Het
Calr4	T	A	4: 109,244,662		probably benign	Het
Cdhr1	T	A	14: 37,089,465	T230S	probably benign	Het
Cdk16	T	C	X: 20,696,327		probably benign	Het
Cenpj	T	C	14: 56,553,691	E337G	probably damaging	Het
Chd9	A	G	8: 90,977,519	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,179,535	V360D	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Col5a1	G	A	2: 28,018,602	W67*	probably null	Het
Cyp20a1	A	T	1: 60,363,350	H198L	probably damaging	Het
Dnaic1	T	A	4: 41,597,630	S38T	probably benign	Het
Dnaic1	T	G	4: 41,632,251	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357	T188K	probably damaging	Het
Ergic2	A	G	6: 148,183,123	V304A	probably damaging	Het
Fam83a	A	G	15: 58,009,800	T342A	probably benign	Het
Fbxo7	A	G	10: 86,021,920		probably benign	Het
Gins4	T	C	8: 23,237,068	E3G	possibly damaging	Het
Glis3	G	A	19: 28,531,579	P335L	probably benign	Het
Golph3l	A	T	3: 95,617,190	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,657,121	A445V	probably benign	Het
Hykk	A	G	9: 54,946,479	I362V	probably benign	Het
Il6st	G	A	13: 112,490,555	V294M	probably damaging	Het
Itpr1	A	G	6: 108,389,387	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,334,699	L501P	probably benign	Het
Mpi	G	A	9: 57,550,604	T105M	probably damaging	Het
Mrpl37	A	T	4: 107,064,722	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,796,319	T600S	possibly damaging	Het
Npl	A	T	1: 153,509,144	I249N	possibly damaging	Het
Olfr1408	C	T	1: 173,131,039	M59I	probably damaging	Het
Olfr849	A	G	9: 19,441,771	N286S	probably damaging	Het
Pkd1	A	G	17: 24,590,838	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,238,175	N235D	probably benign	Het
Rangap1	A	C	15: 81,710,463	D388E	probably benign	Het
Rcvrn	A	T	11: 67,695,514	Q33L	probably benign	Het
Rif1	A	T	2: 52,092,295	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,899,941	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,712,243	G2411*	probably null	Het
Scn3a	A	T	2: 65,472,299	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,249,129	I784F	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Skint7	T	C	4: 111,980,430	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,431,348	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,701,152		probably null	Het
Spata7	A	T	12: 98,669,502	D527V	probably benign	Het
Srcap	A	G	7: 127,541,661	T1477A	probably benign	Het
Stk4	A	T	2: 164,083,688	K58*	probably null	Het
Svep1	T	G	4: 58,120,648	H795P	possibly damaging	Het
Trak2	T	A	1: 58,935,808	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,883,904	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,099,303	L52*	probably null	Het
Vmn2r108	A	T	17: 20,470,192	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,257,305	D55G	possibly damaging	Het
Wdr24	T	A	17: 25,828,207		probably null	Het
Zfp13	C	A	17: 23,577,061	E179*	probably null	Het
Zfp839	T	C	12: 110,868,176	S546P	probably 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
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
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'- AATGCTACCCAGAAGGCTG -3'
(R):5'- TCTCTTGGAAGACCTGAACCAG -3'

Sequencing Primer
(F):5'- GTGATGGCTCGTTCAATCTTC -3'
(R):5'- CCTGAACCAGGTGATTGAGAAC -3'

Posted On

2016-06-06