Mutagenetix > Incidental Mutations

Incidental Mutation 'R4572:Clasrp'

343400

Institutional Source

Beutler Lab

Gene Symbol

Clasrp

Ensembl Gene

ENSMUSG00000061028

Gene Name

CLK4-associating serine/arginine rich protein

Synonyms

Srsf16, Sfrs16, SWAP2

MMRRC Submission

041796-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19581035-19604486 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 19584464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083205 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207663

Predicted Effect

probably benign
Transcript: ENSMUST00000207663

Predicted Effect

probably benign
Transcript: ENSMUST00000207907

Predicted Effect

probably benign
Transcript: ENSMUST00000207907

Predicted Effect

probably benign
Transcript: ENSMUST00000208068

Predicted Effect

probably benign
Transcript: ENSMUST00000208068

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATGCTCCTGCTGGATCATC -3'
(R):5'- AGAATTTGGAACTCGCCCGTC -3'

Sequencing Primer
(F):5'- GGATCATCTTCTCCTGAGCTG -3'
(R):5'- TAACTCCCGTCAGCAGCAGTG -3'

Posted On

2015-09-24