Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:Srl'

536399

Institutional Source

Beutler Lab

Gene Symbol

Srl

Ensembl Gene

ENSMUSG00000022519

Gene Name

sarcalumenin

Synonyms

sarcalumenin, 9830004M20Rik, sar

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4480216-4541816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4482831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 792 (K792R)

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: K792R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023161
Gene: ENSMUSG00000022519
AA Change: K792R

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: K354R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000087986
Gene: ENSMUSG00000022519
AA Change: K354R

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: 98.2%

Validation Efficiency

98% (58/59)

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
6030458C11Rik	T	C	15: 12,812,068 (GRCm38)	H270R	probably damaging	Het
Abcb1a	T	C	5: 8,701,628 (GRCm38)	I336T	probably benign	Het
Adam19	T	A	11: 46,112,875 (GRCm38)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,768,173 (GRCm38)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,925,665 (GRCm38)	S415P	probably benign	Het
Atp10a	T	C	7: 58,797,352 (GRCm38)	L614P	probably benign	Het
C130060K24Rik	A	T	6: 65,456,336 (GRCm38)	N380I	probably benign	Het
Catsper1	G	T	19: 5,343,963 (GRCm38)	V668F	probably damaging	Het
Cluh	T	A	11: 74,661,918 (GRCm38)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,615,107 (GRCm38)	S407P	probably benign	Het
Commd6	T	C	14: 101,634,350 (GRCm38)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,604,657 (GRCm38)		probably null	Het
Eif3l	A	G	15: 79,085,560 (GRCm38)	D252G	probably damaging	Het
Epha2	A	T	4: 141,328,468 (GRCm38)	S962C	probably damaging	Het
Fcho1	C	A	8: 71,714,425 (GRCm38)		probably null	Het
Fgf23	G	T	6: 127,073,216 (GRCm38)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,749 (GRCm38)	Y834F	probably damaging	Het
Gcn1l1	T	C	5: 115,588,110 (GRCm38)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,202,276 (GRCm38)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,937,132 (GRCm38)	M166K	probably benign	Het
Ikbkb	T	C	8: 22,665,893 (GRCm38)	D586G	probably damaging	Het
Il1f9	G	C	2: 24,188,621 (GRCm38)		probably null	Het
Ipo13	A	T	4: 117,904,911 (GRCm38)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771 (GRCm38)		probably null	Het
Kat6a	G	A	8: 22,932,361 (GRCm38)	A896T	probably benign	Het
Kif28	A	G	1: 179,735,994 (GRCm38)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,866,342 (GRCm38)	E332G	probably damaging	Het
Krt8	C	T	15: 101,997,908 (GRCm38)	A389T	probably benign	Het
Msrb3	T	C	10: 120,784,106 (GRCm38)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,809,744 (GRCm38)		probably benign	Het
Myo10	T	C	15: 25,805,659 (GRCm38)	Y1709H	probably benign	Het
Nckap5	A	G	1: 126,023,194 (GRCm38)	S1519P	probably benign	Het
Npnt	T	A	3: 132,909,910 (GRCm38)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,770,836 (GRCm38)		probably null	Het
Ogdh	A	G	11: 6,340,477 (GRCm38)	Y365C	probably benign	Het
Olfr1305	A	T	2: 111,872,961 (GRCm38)	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,787,446 (GRCm38)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,471,438 (GRCm38)	S373P	probably damaging	Het
Rab28	T	C	5: 41,703,534 (GRCm38)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 180,279,226 (GRCm38)	I455T	probably benign	Het
Rnft2	G	A	5: 118,228,818 (GRCm38)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,672,371 (GRCm38)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Het
Runx2	G	A	17: 44,814,192 (GRCm38)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,486,644 (GRCm38)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,355,200 (GRCm38)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,667,305 (GRCm38)	W147*	probably null	Het
Smchd1	T	C	17: 71,353,506 (GRCm38)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,791,902 (GRCm38)	S203G	probably damaging	Het
Srrt	A	G	5: 137,298,673 (GRCm38)	F100S	probably benign	Het
Stard9	G	T	2: 120,697,436 (GRCm38)	M1391I	probably benign	Het
Syne2	A	G	12: 76,035,630 (GRCm38)	E119G	probably damaging	Het
Syt11	G	T	3: 88,762,155 (GRCm38)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,531,642 (GRCm38)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,518,614 (GRCm38)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,242,429 (GRCm38)	Y386F	probably benign	Het
Usp31	C	T	7: 121,649,640 (GRCm38)	W860*	probably null	Het
Zfp317	A	G	9: 19,643,665 (GRCm38)	R30G	probably damaging	Het
Zfp709	C	A	8: 71,889,007 (GRCm38)	N93K	possibly damaging	Het

Other mutations in Srl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00803:Srl	APN	16	4,483,220 (GRCm38)	missense	probably null	1.00
IGL01296:Srl	APN	16	4,497,682 (GRCm38)	missense	probably damaging	0.99
IGL02006:Srl	APN	16	4,497,286 (GRCm38)	missense	probably benign	0.23
IGL02255:Srl	APN	16	4,487,558 (GRCm38)	missense	probably damaging	1.00
IGL02583:Srl	APN	16	4,492,380 (GRCm38)	missense	possibly damaging	0.69
R0550:Srl	UTSW	16	4,487,565 (GRCm38)	missense	probably damaging	1.00
R0559:Srl	UTSW	16	4,496,978 (GRCm38)	missense	probably benign	0.01
R1933:Srl	UTSW	16	4,492,350 (GRCm38)	missense	probably damaging	0.99
R2093:Srl	UTSW	16	4,523,032 (GRCm38)	missense	unknown
R2298:Srl	UTSW	16	4,482,898 (GRCm38)	missense	probably damaging	1.00
R4093:Srl	UTSW	16	4,497,452 (GRCm38)	missense	possibly damaging	0.93
R4798:Srl	UTSW	16	4,492,358 (GRCm38)	missense	possibly damaging	0.51
R4986:Srl	UTSW	16	4,496,782 (GRCm38)	missense	probably benign	0.00
R5088:Srl	UTSW	16	4,482,769 (GRCm38)	missense	probably damaging	1.00
R5177:Srl	UTSW	16	4,496,403 (GRCm38)	critical splice donor site	probably null
R5260:Srl	UTSW	16	4,482,895 (GRCm38)	nonsense	probably null
R5988:Srl	UTSW	16	4,523,028 (GRCm38)	missense	unknown
R6946:Srl	UTSW	16	4,482,559 (GRCm38)	missense	probably benign	0.00
R7221:Srl	UTSW	16	4,482,947 (GRCm38)	missense	probably damaging	0.99
R7262:Srl	UTSW	16	4,497,551 (GRCm38)	missense	probably damaging	0.96
R8307:Srl	UTSW	16	4,497,145 (GRCm38)	missense	probably benign	0.01
R8976:Srl	UTSW	16	4,483,030 (GRCm38)	missense	probably damaging	1.00
R9193:Srl	UTSW	16	4,493,859 (GRCm38)	missense	possibly damaging	0.77
R9424:Srl	UTSW	16	4,483,167 (GRCm38)	missense	probably damaging	1.00
R9576:Srl	UTSW	16	4,483,167 (GRCm38)	missense	probably damaging	1.00
R9785:Srl	UTSW	16	4,496,854 (GRCm38)	missense	probably benign
X0023:Srl	UTSW	16	4,492,368 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTAGGAGCACTGCTGAGAG -3'
(R):5'- GGTTTACGTCAGCTCCTTCTGG -3'

Sequencing Primer
(F):5'- CTGCTGAGAGAGGAGTTTGAAATTG -3'
(R):5'- TCCTTCTGGCCACAGGACTATAAG -3'

Posted On

2018-10-18