Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Clasrp'

57488

Institutional Source

Beutler Lab

Gene Symbol

Clasrp

Ensembl Gene

ENSMUSG00000061028

Gene Name

CLK4-associating serine/arginine rich protein

Synonyms

SWAP2, Sfrs16, Srsf16

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0626 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

19314960-19338411 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 19318418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146982 (fasta)

Gene Model

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

AlphaFold

Q8CFC7

Predicted Effect

unknown
Transcript: ENSMUST00000086041
AA Change: M576K

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: M576K

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: D577E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208464

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209059

Predicted Effect

probably benign
Transcript: ENSMUST00000207907

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col5a1	T	A	2: 27,818,255 (GRCm39)	L160*	probably null	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	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
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
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'- TGCTGGATCATCTTCTCCTGAGCTG -3'
(R):5'- AGAATTTGGAACTCGCCCGTCTAAC -3'

Sequencing Primer
(F):5'- TGAGCTGCCTTCTTATCCG -3'
(R):5'- TCAGCAGCAGTGTCCAGAG -3'

Posted On

2013-07-11