Mutagenetix > Incidental Mutation

Incidental Mutation 'R5533:Srpk1'

433781

Institutional Source

Beutler Lab

Gene Symbol

Srpk1

Ensembl Gene

ENSMUSG00000004865

Gene Name

serine/arginine-rich protein specific kinase 1

Synonyms

SR protein-specific kinase 1

MMRRC Submission

043091-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R5533 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

28806622-28841683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28821733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 227 (Y227C)

Ref Sequence

ENSEMBL: ENSMUSP00000116259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004987] [ENSMUST00000130643]

AlphaFold

O70551

Predicted Effect

probably benign
Transcript: ENSMUST00000004987
AA Change: Y155C

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000004987
Gene: ENSMUSG00000004865
AA Change: Y155C

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	8	158	1.8e-12	PFAM
Pfam:Pkinase	8	160	1.5e-25	PFAM
low complexity region	169	183	N/A	INTRINSIC
low complexity region	195	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126683

Predicted Effect

probably damaging
Transcript: ENSMUST00000130643
AA Change: Y227C

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

SMART Domains

Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: Y227C

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	229	6.8e-11	PFAM
Pfam:Pkinase	80	231	5.6e-23	PFAM
low complexity region	241	255	N/A	INTRINSIC
coiled coil region	264	297	N/A	INTRINSIC
Pfam:Pkinase	468	646	3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145730

Coding Region Coverage

1x: 98.4%
3x: 97.1%
10x: 94.5%
20x: 88.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Akap12	T	A	10: 4,307,405 (GRCm39)	V1405D	probably damaging	Het
Akap7	C	T	10: 25,159,880 (GRCm39)	D107N	possibly damaging	Het
Arfgef1	A	G	1: 10,269,952 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,026,113 (GRCm39)		probably null	Het
Ctsd	T	C	7: 141,931,070 (GRCm39)	Q274R	probably benign	Het
Dysf	G	A	6: 84,163,453 (GRCm39)	R1575Q	probably damaging	Het
Erich6b	A	T	14: 75,896,274 (GRCm39)	L53F	possibly damaging	Het
Exoc6	A	C	19: 37,582,218 (GRCm39)		probably null	Het
Fbxw19	A	T	9: 109,315,133 (GRCm39)	V143E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fndc1	A	G	17: 7,991,608 (GRCm39)	F696S	unknown	Het
Foxa3	G	T	7: 18,748,940 (GRCm39)	Y102*	probably null	Het
Foxn1	A	G	11: 78,256,792 (GRCm39)	M301T	probably damaging	Het
Foxp2	C	T	6: 15,197,119 (GRCm39)	Q54*	probably null	Het
Glra1	T	C	11: 55,423,208 (GRCm39)	E117G	possibly damaging	Het
Glt1d1	A	T	5: 127,768,095 (GRCm39)	D234V	probably damaging	Het
Golm2	AGATGGTGATGGTG	AGATGGTG	2: 121,756,178 (GRCm39)		probably benign	Het
Gulp1	T	C	1: 44,812,441 (GRCm39)	I137T	probably damaging	Het
Itga8	A	G	2: 12,165,161 (GRCm39)	V816A	possibly damaging	Het
Kdm4c	G	A	4: 74,233,886 (GRCm39)		probably benign	Het
Krtap19-2	A	G	16: 88,670,996 (GRCm39)		probably benign	Het
Lcorl	T	C	5: 45,891,219 (GRCm39)	N378S	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mocos	T	C	18: 24,807,357 (GRCm39)	L363P	probably damaging	Het
Mycbp2	G	T	14: 103,520,081 (GRCm39)	Y745*	probably null	Het
Nav3	A	C	10: 109,719,539 (GRCm39)	N141K	possibly damaging	Het
Ncor1	T	C	11: 62,233,837 (GRCm39)	N779S	probably benign	Het
Nebl	G	T	2: 17,398,079 (GRCm39)	Y414*	probably null	Het
Nf1	T	G	11: 79,336,615 (GRCm39)	C1065G	probably damaging	Het
Nfib	A	G	4: 82,278,004 (GRCm39)	V216A	probably damaging	Het
Nub1	A	T	5: 24,907,379 (GRCm39)	N354I	possibly damaging	Het
Nyap1	C	T	5: 137,733,726 (GRCm39)	V436I	probably benign	Het
Or5m11b	A	G	2: 85,805,797 (GRCm39)	D70G	possibly damaging	Het
Or5p73	T	C	7: 108,065,469 (GRCm39)	F313L	probably benign	Het
Pde2a	T	A	7: 101,155,187 (GRCm39)	M570K	probably damaging	Het
Pfas	T	C	11: 68,882,296 (GRCm39)	S856G	probably benign	Het
Pkd1l2	T	C	8: 117,794,855 (GRCm39)	E368G	probably benign	Het
Ptf1a	G	A	2: 19,451,969 (GRCm39)	V323M	probably damaging	Het
Ptprh	T	C	7: 4,552,504 (GRCm39)	Y920C	probably damaging	Het
Sergef	T	A	7: 46,264,200 (GRCm39)	D229V	possibly damaging	Het
Slc1a4	T	C	11: 20,254,417 (GRCm39)	K483R	probably benign	Het
Slc26a6	G	A	9: 108,735,155 (GRCm39)	R351H	probably damaging	Het
Slc6a19	G	A	13: 73,833,948 (GRCm39)	T370I	possibly damaging	Het
Smpd5	T	C	15: 76,178,757 (GRCm39)	S42P	possibly damaging	Het
Snx13	G	A	12: 35,173,025 (GRCm39)		probably null	Het
Sox10	G	A	15: 79,040,502 (GRCm39)	S185L	probably benign	Het
Spata31e5	T	A	1: 28,817,163 (GRCm39)	I290F	probably damaging	Het
Stambpl1	T	A	19: 34,211,316 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,665,750 (GRCm39)	R698G	possibly damaging	Het
Tas2r122	T	A	6: 132,688,393 (GRCm39)	T167S	probably damaging	Het
Tlr12	A	G	4: 128,509,656 (GRCm39)	S865P	probably damaging	Het
Trp53bp1	A	G	2: 121,038,227 (GRCm39)	L1537P	probably damaging	Het
Vstm2a	C	A	11: 16,213,125 (GRCm39)	T170K	possibly damaging	Het
Xpo7	A	T	14: 70,931,407 (GRCm39)	F304I	probably damaging	Het
Zfp286	T	C	11: 62,671,796 (GRCm39)		probably benign	Het
Zfp985	A	T	4: 147,667,440 (GRCm39)	K103*	probably null	Het

Other mutations in Srpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Srpk1	APN	17	28,825,291 (GRCm39)	missense	probably damaging	1.00
IGL01792:Srpk1	APN	17	28,818,441 (GRCm39)	splice site	probably benign
IGL03153:Srpk1	APN	17	28,811,240 (GRCm39)	missense	possibly damaging	0.57
H8562:Srpk1	UTSW	17	28,821,707 (GRCm39)	missense	probably benign	0.32
R0481:Srpk1	UTSW	17	28,809,218 (GRCm39)	splice site	probably benign
R1160:Srpk1	UTSW	17	28,818,748 (GRCm39)	missense	probably benign	0.05
R2188:Srpk1	UTSW	17	28,813,163 (GRCm39)	missense	probably damaging	1.00
R4640:Srpk1	UTSW	17	28,827,698 (GRCm39)	missense	probably benign
R4716:Srpk1	UTSW	17	28,840,982 (GRCm39)	missense	probably benign	0.16
R4880:Srpk1	UTSW	17	28,810,199 (GRCm39)	missense	probably damaging	0.98
R5458:Srpk1	UTSW	17	28,818,446 (GRCm39)	splice site	probably null
R6383:Srpk1	UTSW	17	28,809,036 (GRCm39)	missense	probably damaging	1.00
R6766:Srpk1	UTSW	17	28,821,727 (GRCm39)	missense	possibly damaging	0.85
R7483:Srpk1	UTSW	17	28,813,192 (GRCm39)	missense	probably benign	0.11
R8074:Srpk1	UTSW	17	28,840,990 (GRCm39)	missense	probably damaging	1.00
R8344:Srpk1	UTSW	17	28,839,398 (GRCm39)	missense	unknown
R8416:Srpk1	UTSW	17	28,813,229 (GRCm39)	missense	probably damaging	1.00
R8970:Srpk1	UTSW	17	28,818,493 (GRCm39)	missense	probably benign
R9630:Srpk1	UTSW	17	28,819,404 (GRCm39)	missense	probably benign	0.00
R9731:Srpk1	UTSW	17	28,825,297 (GRCm39)	missense	probably damaging	1.00
R9741:Srpk1	UTSW	17	28,818,652 (GRCm39)	missense	probably benign
X0058:Srpk1	UTSW	17	28,821,809 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATTTGGAAGAAATACCAGTCTC -3'
(R):5'- GCACCTGCGAACCCTCTCT -3'

Sequencing Primer
(F):5'- TGGAAGAAATACCAGTCTCTTTAATG -3'
(R):5'- GAACCCTCTCTCTGTGCGTTG -3'

Posted On

2016-10-06