Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Clasrp'

253722

Institutional Source

Beutler Lab

Gene Symbol

Clasrp

Ensembl Gene

ENSMUSG00000061028

Gene Name

CLK4-associating serine/arginine rich protein

Synonyms

Srsf16, Sfrs16, SWAP2

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19581035-19604486 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to A at 19585240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086041] [ENSMUST00000108453] [ENSMUST00000207524] [ENSMUST00000207663] [ENSMUST00000207907] [ENSMUST00000208068]

AlphaFold

Q8CFC7

Predicted Effect

unknown
Transcript: ENSMUST00000086041
AA Change: R500L

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: R500L

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: ENSMUST00000108453

SMART Domains

Protein: ENSMUSP00000104093
Gene: ENSMUSG00000011267

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	161	5.07e0	SMART
ZnF_C2H2	212	234	2.05e-2	SMART
ZnF_C2H2	240	262	1.1e-2	SMART
low complexity region	281	295	N/A	INTRINSIC
low complexity region	317	329	N/A	INTRINSIC
ZnF_C2H2	360	382	1.95e-3	SMART
ZnF_C2H2	388	410	3.39e-3	SMART
ZnF_C2H2	418	441	1.14e0	SMART

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: R500L

Predicted Effect

unknown
Transcript: ENSMUST00000208068
AA Change: R500L

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

0.1079

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,955,176	C811R	possibly damaging	Het
AI481877	A	C	4: 59,093,850	L226R	probably damaging	Het
Akap8l	G	A	17: 32,338,442	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,022,260		probably null	Het
Armc2	C	T	10: 41,966,700		probably null	Het
Atp6v1g1	A	G	4: 63,550,021	Y87C	probably benign	Het
Cfap54	A	T	10: 92,921,419	F273I	possibly damaging	Het
Csmd2	T	C	4: 128,557,718	F113S	unknown	Het
Cyp4a14	C	A	4: 115,487,301	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,458,362	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,664,644		probably benign	Het
Dhx57	A	T	17: 80,251,376	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Eif4enif1	C	T	11: 3,242,586	P805S	probably damaging	Het
Eml5	C	T	12: 98,865,401	D433N	probably damaging	Het
Fan1	A	G	7: 64,363,190	I668T	probably benign	Het
Frmpd4	A	T	X: 167,477,247	D1166E	probably benign	Het
Gm813	A	T	16: 58,613,979	I125K	probably benign	Het
Gria2	G	A	3: 80,702,492	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,357,929	Q127K	probably benign	Het
Hdhd2	T	C	18: 76,955,006	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hmcn1	A	T	1: 150,738,716	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,257,861	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,588,498	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,434,813	R520S	probably benign	Het
Kif1c	A	G	11: 70,724,081	E567G	probably damaging	Het
Klf8	A	T	X: 153,382,682	E82D	probably damaging	Het
Kpna7	T	C	5: 144,993,935	T367A	probably benign	Het
Lpo	A	G	11: 87,816,524	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,452,723	I532V	probably benign	Het
Matr3	T	A	18: 35,572,296	S91R	probably benign	Het
Mki67	G	A	7: 135,708,149	P191L	probably benign	Het
Mlxip	A	G	5: 123,452,667	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,255,565	L1292I	probably damaging	Het
Msh2	C	A	17: 87,685,584	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,540,030	M2089K	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,710,243	Q40*	probably null	Het
Nomo1	C	A	7: 46,046,937	T293N	probably damaging	Het
Notum	A	G	11: 120,660,196	V48A	probably benign	Het
Npas3	C	T	12: 54,068,013	R542*	probably null	Het
Olfr1101	A	T	2: 86,988,848	C109*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Olfr45	A	G	7: 140,691,285	I127V	possibly damaging	Het
Olfr71	C	A	4: 43,706,458	V37L	probably benign	Het
Ostc	T	C	3: 130,703,508	N80S	probably damaging	Het
Palmd	T	C	3: 116,923,751	R366G	possibly damaging	Het
Parp1	A	G	1: 180,573,665	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,737,471	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,976,834	T372K	probably benign	Het
Pkp4	C	A	2: 59,308,156	T250K	probably benign	Het
Plekhg5	T	A	4: 152,107,503	C433S	probably benign	Het
Plin2	A	G	4: 86,668,678	M1T	probably null	Het
Prdx4	A	G	X: 155,340,464	V15A	probably benign	Het
Psmb8	T	C	17: 34,200,170	I146T	probably damaging	Het
Psmd13	A	T	7: 140,887,055	T116S	probably damaging	Het
Rel	T	C	11: 23,761,129	I13V	probably benign	Het
Reln	C	T	5: 22,049,791	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,210,405	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,899,569	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc39a8	T	A	3: 135,886,793		probably null	Het
Sppl2c	C	T	11: 104,187,315	P314S	probably benign	Het
St5	A	T	7: 109,557,430	Y38N	probably benign	Het
Tnni3k	C	T	3: 154,938,750		probably null	Het
Ugt1a1	AT	A	1: 88,212,371		probably null	Het
Vmn2r68	A	C	7: 85,233,626	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,559,019	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,021,242	M395I	probably damaging	Het
Zfp53	A	T	17: 21,508,078	E124D	probably benign	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
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
R6102:Clasrp	UTSW	7	19586468	utr 3 prime	probably benign
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'- AATTTCATCAGGGCTCCCTC -3'
(R):5'- AAAGTGCTGGACTCTGCAGG -3'

Sequencing Primer
(F):5'- ATTTCATCAGGGCTCCCTCAGAAC -3'
(R):5'- CAGGAGGCCTAGCGATTTG -3'

Posted On

2014-12-04