Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Clasrp'

628586

Institutional Source

Beutler Lab

Gene Symbol

Clasrp

Ensembl Gene

ENSMUSG00000061028

Gene Name

CLK4-associating serine/arginine rich protein

Synonyms

SWAP2, Sfrs16, Srsf16

MMRRC Submission

045863-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19314960-19338411 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 19322671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086041] [ENSMUST00000086041] [ENSMUST00000207524] [ENSMUST00000207663] [ENSMUST00000207907] [ENSMUST00000208068]

AlphaFold

Q8CFC7

Predicted Effect

probably null
Transcript: ENSMUST00000086041

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
DRY_EERY	39	171	1.28e-64	SMART
low complexity region	172	212	N/A	INTRINSIC
low complexity region	241	260	N/A	INTRINSIC
low complexity region	263	283	N/A	INTRINSIC
low complexity region	302	324	N/A	INTRINSIC
low complexity region	339	368	N/A	INTRINSIC
low complexity region	372	446	N/A	INTRINSIC
low complexity region	453	476	N/A	INTRINSIC
low complexity region	480	532	N/A	INTRINSIC
coiled coil region	574	630	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000086041

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
DRY_EERY	39	171	1.28e-64	SMART
low complexity region	172	212	N/A	INTRINSIC
low complexity region	241	260	N/A	INTRINSIC
low complexity region	263	283	N/A	INTRINSIC
low complexity region	302	324	N/A	INTRINSIC
low complexity region	339	368	N/A	INTRINSIC
low complexity region	372	446	N/A	INTRINSIC
low complexity region	453	476	N/A	INTRINSIC
low complexity region	480	532	N/A	INTRINSIC
coiled coil region	574	630	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207524

Predicted Effect

probably benign
Transcript: ENSMUST00000207663

Predicted Effect

silent
Transcript: ENSMUST00000207907

Predicted Effect

silent
Transcript: ENSMUST00000208068

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: The protein encoded by this gene contains serine/arginine (SR) dipeptide repeat domains, and is thought to be involved in the regulation of alternative splicing. This protein is thought to interact with, and be phosphorylated by, Clk4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,957,297 (GRCm39)	V11A	probably benign	Het
Abca12	A	T	1: 71,313,793 (GRCm39)		probably null	Het
Abcc12	T	A	8: 87,234,568 (GRCm39)	M1232L	probably benign	Het
Adamts1	T	C	16: 85,597,117 (GRCm39)	Y314C	probably damaging	Het
Adgb	A	G	10: 10,254,403 (GRCm39)		probably null	Het
Ankrd12	T	A	17: 66,292,648 (GRCm39)	K928N	possibly damaging	Het
Ano5	A	T	7: 51,237,543 (GRCm39)	K789I	possibly damaging	Het
Cacna1d	G	T	14: 29,833,026 (GRCm39)	N938K	probably damaging	Het
Camk1g	T	C	1: 193,032,593 (GRCm39)	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,744,528 (GRCm39)	V966F	probably damaging	Het
Card6	T	C	15: 5,128,954 (GRCm39)	H814R	probably benign	Het
Cenatac	T	C	9: 44,324,215 (GRCm39)	Q228R	probably null	Het
Cflar	A	G	1: 58,750,740 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,204,204 (GRCm39)	N66K	probably benign	Het
Clec4a4	T	C	6: 122,967,339 (GRCm39)	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,948,251 (GRCm39)	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,761,616 (GRCm39)	F633I	possibly damaging	Het
Col16a1	C	T	4: 129,967,057 (GRCm39)	P909S	unknown	Het
Csf1	C	A	3: 107,667,361 (GRCm39)	A7S	possibly damaging	Het
Cstpp1	T	C	2: 91,274,939 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,915,270 (GRCm39)	V833D	probably benign	Het
Dlg2	T	G	7: 92,080,263 (GRCm39)	I712M	probably benign	Het
Dmxl1	T	A	18: 50,011,382 (GRCm39)	F1180I	probably benign	Het
Dnah9	T	A	11: 65,896,631 (GRCm39)	K2398*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,621,893 (GRCm39)	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,081,178 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,047,911 (GRCm39)	S333P	possibly damaging	Het
Eed	A	T	7: 89,605,541 (GRCm39)	N349K	probably benign	Het
Eipr1	A	T	12: 28,816,769 (GRCm39)		probably null	Het
Fbxw16	A	C	9: 109,277,222 (GRCm39)	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,578,229 (GRCm39)	N172I	possibly damaging	Het
Fhip1b	G	A	7: 105,033,732 (GRCm39)	R509C	probably damaging	Het
Gabbr2	T	A	4: 46,875,744 (GRCm39)	H126L	possibly damaging	Het
Gcnt2	A	T	13: 41,014,338 (GRCm39)	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,583,093 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,235,489 (GRCm39)	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,478,107 (GRCm39)	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,611,567 (GRCm39)	K340*	probably null	Het
Jcad	A	G	18: 4,673,113 (GRCm39)	K292E	probably damaging	Het
Krt5	T	A	15: 101,617,453 (GRCm39)	T427S	probably benign	Het
Krt76	T	C	15: 101,798,929 (GRCm39)	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,444,198 (GRCm39)	V141A	not run	Het
Lce6a	A	T	3: 92,527,642 (GRCm39)	V55D	probably benign	Het
Lpxn	C	T	19: 12,802,185 (GRCm39)	S170F	possibly damaging	Het
Magi2	T	C	5: 20,670,838 (GRCm39)	V394A	probably benign	Het
Mbnl1	G	A	3: 60,522,242 (GRCm39)		probably null	Het
Med16	T	A	10: 79,734,252 (GRCm39)	K554M	probably damaging	Het
Mettl14	T	C	3: 123,166,234 (GRCm39)	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,399,009 (GRCm39)	D1002G	probably damaging	Het
Mroh9	T	C	1: 162,866,678 (GRCm39)	E686G	probably damaging	Het
Nav1	T	C	1: 135,379,986 (GRCm39)	Y1512C	unknown	Het
Neb	T	C	2: 52,082,035 (GRCm39)	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,489,509 (GRCm39)		probably benign	Het
Nptx1	T	A	11: 119,435,462 (GRCm39)	I285F	probably damaging	Het
Oas1d	G	T	5: 121,053,034 (GRCm39)	E30*	probably null	Het
Or1p1b	A	T	11: 74,130,725 (GRCm39)	I112F	probably damaging	Het
Or51g2	A	G	7: 102,622,317 (GRCm39)	V294A	possibly damaging	Het
Or6n1	C	A	1: 173,917,417 (GRCm39)	Y270*	probably null	Het
Parp4	T	G	14: 56,873,205 (GRCm39)	S1150A	possibly damaging	Het
Pinx1	A	T	14: 64,156,741 (GRCm39)	K223*	probably null	Het
Plekha5	T	C	6: 140,529,640 (GRCm39)	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,019,755 (GRCm39)	V400A	possibly damaging	Het
Prtg	A	T	9: 72,749,979 (GRCm39)	I128F	possibly damaging	Het
Rars1	T	C	11: 35,719,534 (GRCm39)	E96G	probably benign	Het
Rhpn1	T	A	15: 75,585,299 (GRCm39)	S551T	probably benign	Het
Selenow	C	T	7: 15,656,176 (GRCm39)		probably null	Het
Serpina9	A	T	12: 103,967,484 (GRCm39)		probably null	Het
Shank3	A	T	15: 89,433,083 (GRCm39)	D1276V	probably damaging	Het
Slc27a6	A	G	18: 58,742,267 (GRCm39)	T494A	probably damaging	Het
Slc34a1	A	C	13: 24,003,317 (GRCm39)	H285P	probably damaging	Het
Slc6a21	A	C	7: 44,932,360 (GRCm39)	T54P		Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tal1	T	C	4: 114,925,489 (GRCm39)	V186A	probably benign	Het
Tars3	A	G	7: 65,302,009 (GRCm39)	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984 (GRCm39)	I456L	probably benign	Het
Tfcp2	A	G	15: 100,420,310 (GRCm39)	F175S	probably damaging	Het
Timp2	C	T	11: 118,194,626 (GRCm39)	A188T	probably damaging	Het
Tmc5	T	A	7: 118,268,440 (GRCm39)	I836N	probably damaging	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Ulk2	A	G	11: 61,745,378 (GRCm39)	Y9H	probably damaging	Het
Usp7	T	C	16: 8,523,027 (GRCm39)	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033 (GRCm39)	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,496,678 (GRCm39)	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,893,469 (GRCm39)	G44S	probably benign	Het
Zfp677	C	A	17: 21,617,647 (GRCm39)	H235N	probably damaging	Het
Zfp869	T	A	8: 70,159,636 (GRCm39)	R312S	probably damaging	Het

Other mutations in Clasrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02394:Clasrp	APN	7	19,337,179 (GRCm39)	missense	probably damaging	1.00
clarissa	UTSW	7	19,324,173 (GRCm39)	missense	possibly damaging	0.82
suet	UTSW	7	19,320,393 (GRCm39)	utr 3 prime	probably benign
R0518:Clasrp	UTSW	7	19,322,528 (GRCm39)	missense	probably benign	0.32
R0519:Clasrp	UTSW	7	19,318,089 (GRCm39)	utr 3 prime	probably benign
R0521:Clasrp	UTSW	7	19,322,528 (GRCm39)	missense	probably benign	0.32
R0626:Clasrp	UTSW	7	19,318,418 (GRCm39)	utr 3 prime	probably benign
R0826:Clasrp	UTSW	7	19,318,226 (GRCm39)	utr 3 prime	probably benign
R1918:Clasrp	UTSW	7	19,319,188 (GRCm39)	nonsense	probably null
R2044:Clasrp	UTSW	7	19,320,640 (GRCm39)	utr 3 prime	probably benign
R2256:Clasrp	UTSW	7	19,320,510 (GRCm39)	utr 3 prime	probably benign
R2257:Clasrp	UTSW	7	19,320,510 (GRCm39)	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2940:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R3408:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R3691:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4168:Clasrp	UTSW	7	19,315,079 (GRCm39)	unclassified	probably benign
R4496:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4505:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4507:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4572:Clasrp	UTSW	7	19,318,389 (GRCm39)	splice site	probably null
R4753:Clasrp	UTSW	7	19,328,865 (GRCm39)	missense	probably damaging	1.00
R4871:Clasrp	UTSW	7	19,324,173 (GRCm39)	missense	possibly damaging	0.82
R4938:Clasrp	UTSW	7	19,318,703 (GRCm39)	splice site	probably null
R5538:Clasrp	UTSW	7	19,318,707 (GRCm39)	utr 3 prime	probably benign
R5582:Clasrp	UTSW	7	19,320,781 (GRCm39)	missense	probably damaging	0.97
R5615:Clasrp	UTSW	7	19,320,372 (GRCm39)	utr 3 prime	probably benign
R5794:Clasrp	UTSW	7	19,325,034 (GRCm39)	missense	probably damaging	0.99
R5944:Clasrp	UTSW	7	19,328,431 (GRCm39)	missense	probably damaging	1.00
R6102:Clasrp	UTSW	7	19,320,393 (GRCm39)	utr 3 prime	probably benign
R6171:Clasrp	UTSW	7	19,318,747 (GRCm39)	splice site	probably benign
R6485:Clasrp	UTSW	7	19,320,294 (GRCm39)	utr 3 prime	probably benign
R6600:Clasrp	UTSW	7	19,324,207 (GRCm39)	nonsense	probably null
R7383:Clasrp	UTSW	7	19,319,198 (GRCm39)	missense	unknown
R7719:Clasrp	UTSW	7	19,321,769 (GRCm39)	missense	probably damaging	0.99
R7750:Clasrp	UTSW	7	19,318,516 (GRCm39)	makesense	probably null
R8192:Clasrp	UTSW	7	19,329,387 (GRCm39)	missense	possibly damaging	0.83
R8820:Clasrp	UTSW	7	19,320,362 (GRCm39)	missense	unknown
R8821:Clasrp	UTSW	7	19,320,362 (GRCm39)	missense	unknown
R8924:Clasrp	UTSW	7	19,318,232 (GRCm39)	missense	unknown
R9471:Clasrp	UTSW	7	19,319,172 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTAGCTCTGTAACTGTCGCC -3'
(R):5'- GTAACATCAGGTCCCTGCTG -3'

Sequencing Primer
(F):5'- CTGGCTGTGCAGAGGAGATATCC -3'
(R):5'- GTCTTTGCTGCCTTTACCAGGG -3'

Posted On

2020-05-12