Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Clasrp'

485305

Institutional Source

Beutler Lab

Gene Symbol

Clasrp

Ensembl Gene

ENSMUSG00000061028

Gene Name

CLK4-associating serine/arginine rich protein

Synonyms

Srsf16, Sfrs16, SWAP2

MMRRC Submission

044252-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19581035-19604486 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 19586468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147069 (fasta)

Gene Model

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

AlphaFold

Q8CFC7

Predicted Effect

unknown
Transcript: ENSMUST00000086041
AA Change: R422C

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: R422C

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

noncoding transcript
Transcript: ENSMUST00000207253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207447

Predicted Effect

probably benign
Transcript: ENSMUST00000207524

Predicted Effect

probably benign
Transcript: ENSMUST00000207663

Predicted Effect

unknown
Transcript: ENSMUST00000207907
AA Change: R422C

Predicted Effect

unknown
Transcript: ENSMUST00000208068
AA Change: R422C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209059

Meta Mutation Damage Score

0.0679

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572		probably null	Het
Ccr4	C	T	9: 114,496,493		probably null	Het
Cldn23	A	G	8: 35,825,551	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131		probably null	Het
Mmp13	A	G	9: 7,276,688	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507		probably benign	Het
Olfr152	T	C	2: 87,782,848	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093	T57S	possibly damaging	Het
Plscr2	C	T	9: 92,287,668	T57I	probably benign	Het
Ppp2r5b	A	G	19: 6,234,738	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022		probably benign	Het
Psme4	T	A	11: 30,865,567	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208	*416Q	probably null	Het
Strada	A	G	11: 106,168,436	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350		probably null	Het
Tubb2a	T	C	13: 34,075,343	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138		probably null	Het
Zfp273	A	G	13: 67,822,347	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653	L248P	probably damaging	Het

Other mutations in Clasrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02394:Clasrp	APN	7	19603254	missense	probably damaging	1.00
clarissa	UTSW	7	19590248	missense	possibly damaging	0.82
suet	UTSW	7	19586468	utr 3 prime	probably benign
R0518:Clasrp	UTSW	7	19588603	missense	probably benign	0.32
R0519:Clasrp	UTSW	7	19584164	utr 3 prime	probably benign
R0521:Clasrp	UTSW	7	19588603	missense	probably benign	0.32
R0626:Clasrp	UTSW	7	19584493	utr 3 prime	probably benign
R0826:Clasrp	UTSW	7	19584301	utr 3 prime	probably benign
R1918:Clasrp	UTSW	7	19585263	nonsense	probably null
R2044:Clasrp	UTSW	7	19586715	utr 3 prime	probably benign
R2256:Clasrp	UTSW	7	19586585	utr 3 prime	probably benign
R2257:Clasrp	UTSW	7	19586585	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R2940:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R3408:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R3691:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R4168:Clasrp	UTSW	7	19581154	unclassified	probably benign
R4496:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R4505:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R4507:Clasrp	UTSW	7	19585240	utr 3 prime	probably benign
R4572:Clasrp	UTSW	7	19584464	splice site	probably null
R4753:Clasrp	UTSW	7	19594940	missense	probably damaging	1.00
R4871:Clasrp	UTSW	7	19590248	missense	possibly damaging	0.82
R4938:Clasrp	UTSW	7	19584778	splice site	probably null
R5538:Clasrp	UTSW	7	19584782	utr 3 prime	probably benign
R5582:Clasrp	UTSW	7	19586856	missense	probably damaging	0.97
R5615:Clasrp	UTSW	7	19586447	utr 3 prime	probably benign
R5794:Clasrp	UTSW	7	19591109	missense	probably damaging	0.99
R5944:Clasrp	UTSW	7	19594506	missense	probably damaging	1.00
R6171:Clasrp	UTSW	7	19584822	splice site	probably benign
R6485:Clasrp	UTSW	7	19586369	utr 3 prime	probably benign
R6600:Clasrp	UTSW	7	19590282	nonsense	probably null
R7383:Clasrp	UTSW	7	19585273	missense	unknown
R7719:Clasrp	UTSW	7	19587844	missense	probably damaging	0.99
R7750:Clasrp	UTSW	7	19584591	makesense	probably null
R7808:Clasrp	UTSW	7	19588746	splice site	probably null
R8192:Clasrp	UTSW	7	19595462	missense	possibly damaging	0.83
R8820:Clasrp	UTSW	7	19586437	missense	unknown
R8821:Clasrp	UTSW	7	19586437	missense	unknown
R8924:Clasrp	UTSW	7	19584307	missense	unknown
R9471:Clasrp	UTSW	7	19585247	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCTTCCCAAGAGAAGAGG -3'
(R):5'- TCTAGGACAGTGTCGCTCAC -3'

Sequencing Primer
(F):5'- CTTCCCAAGAGAAGAGGGGCTG -3'
(R):5'- GTGTCGCTCACAAACCCTG -3'

Posted On

2017-08-16