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

SWAP2, Sfrs16, Srsf16

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

19314960-19338411 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

C to A at 19319165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147069 (fasta)

Gene Model

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

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: ENSMUST00000208068
AA Change: R500L

Predicted Effect

unknown
Transcript: ENSMUST00000207907
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: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Akap8l	G	A	17: 32,557,416 (GRCm39)	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,069,034 (GRCm39)		probably null	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cfap54	A	T	10: 92,757,281 (GRCm39)	F273I	possibly damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,506,564 (GRCm39)		probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eml5	C	T	12: 98,831,660 (GRCm39)	D433N	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,552,118 (GRCm39)	T40I	possibly damaging	Het
Kcnk10	T	A	12: 98,401,072 (GRCm39)	R520S	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Lpo	A	G	11: 87,707,350 (GRCm39)	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,502,722 (GRCm39)	I532V	probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,183,287 (GRCm39)	L1292I	probably damaging	Het
Msh2	C	A	17: 87,993,012 (GRCm39)	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Npas3	C	T	12: 54,114,796 (GRCm39)	R542*	probably null	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or13a17	A	G	7: 140,271,198 (GRCm39)	I127V	possibly damaging	Het
Or13j1	C	A	4: 43,706,458 (GRCm39)	V37L	probably benign	Het
Or5t16	A	T	2: 86,819,192 (GRCm39)	C109*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Pkp4	C	A	2: 59,138,500 (GRCm39)	T250K	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,631,766 (GRCm39)	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,208,227 (GRCm39)	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	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
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
R7808:Clasrp	UTSW	7	19,322,671 (GRCm39)	splice site	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'- AATTTCATCAGGGCTCCCTC -3'
(R):5'- AAAGTGCTGGACTCTGCAGG -3'

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

Posted On

2014-12-04