Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Crnkl1'

272960

Institutional Source

Beutler Lab

Gene Symbol

Crnkl1

Ensembl Gene

ENSMUSG00000001767

Gene Name

crooked neck pre-mRNA splicing factor 1

Synonyms

5730590A01Rik, crn, 1200013P10Rik

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145917479-145935014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145919795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 614 (D614G)

Ref Sequence

ENSEMBL: ENSMUSP00000001818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000002805] [ENSMUST00000110000] [ENSMUST00000149461] [ENSMUST00000165635] [ENSMUST00000169732]

AlphaFold

P63154

Predicted Effect

probably benign
Transcript: ENSMUST00000001818
AA Change: D614G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: D614G

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
low complexity region	30	52	N/A	INTRINSIC
HAT	61	93	4.57e-2	SMART
HAT	95	127	3.48e-7	SMART
HAT	129	161	3.33e-4	SMART
HAT	163	194	2.48e-3	SMART
HAT	196	227	1.32e-7	SMART
HAT	229	264	2.11e-6	SMART
HAT	266	300	2.07e0	SMART
Blast:HAT	310	342	1e-13	BLAST
HAT	344	378	3.88e-5	SMART
HAT	388	424	6.86e-6	SMART
HAT	426	457	1.92e2	SMART
HAT	459	491	1.29e-1	SMART
HAT	493	527	2e-7	SMART
HAT	529	560	8.07e-3	SMART
coiled coil region	566	596	N/A	INTRINSIC
low complexity region	655	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000002805

SMART Domains

Protein: ENSMUSP00000002805
Gene: ENSMUSG00000002728

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	40	140	2.1e-8	PFAM
Pfam:Acetyltransf_1	48	139	4.3e-15	PFAM
Pfam:FR47	67	148	3.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110000

SMART Domains

Protein: ENSMUSP00000105627
Gene: ENSMUSG00000002728

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_10	26	128	5.9e-8	PFAM
Pfam:Acetyltransf_7	40	130	5.1e-10	PFAM
Pfam:Acetyltransf_1	48	129	8.3e-18	PFAM
Pfam:FR47	55	138	7.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129502

Predicted Effect

probably benign
Transcript: ENSMUST00000149461

SMART Domains

Protein: ENSMUSP00000127918
Gene: ENSMUSG00000002728

Domain	Start	End	E-Value	Type
SCOP:d1cjwa_	3	73	5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165635

Predicted Effect

probably benign
Transcript: ENSMUST00000169732

SMART Domains

Protein: ENSMUSP00000132857
Gene: ENSMUSG00000002728

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	40	112	2.2e-9	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	Het

Other mutations in Crnkl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Crnkl1	APN	2	145918468	missense	possibly damaging	0.75
IGL01092:Crnkl1	APN	2	145919948	missense	probably benign	0.00
IGL01643:Crnkl1	APN	2	145931348	missense	probably damaging	0.99
IGL01902:Crnkl1	APN	2	145924712	splice site	probably null
IGL01908:Crnkl1	APN	2	145928155	missense	probably benign	0.01
IGL01934:Crnkl1	APN	2	145931282	missense	probably benign	0.02
IGL01947:Crnkl1	APN	2	145921824	missense	probably benign	0.05
IGL02342:Crnkl1	APN	2	145924713	critical splice donor site	probably null
IGL02721:Crnkl1	APN	2	145923881	missense	possibly damaging	0.90
IGL02794:Crnkl1	APN	2	145930612	missense	possibly damaging	0.55
IGL02877:Crnkl1	APN	2	145920671	nonsense	probably null
IGL03131:Crnkl1	APN	2	145932258	missense	probably benign	0.02
R0326:Crnkl1	UTSW	2	145919955	missense	probably benign
R1462:Crnkl1	UTSW	2	145921819	missense	probably damaging	0.97
R1462:Crnkl1	UTSW	2	145921819	missense	probably damaging	0.97
R1471:Crnkl1	UTSW	2	145932316	missense	possibly damaging	0.69
R1951:Crnkl1	UTSW	2	145928200	missense	probably damaging	0.98
R1952:Crnkl1	UTSW	2	145928200	missense	probably damaging	0.98
R1953:Crnkl1	UTSW	2	145928200	missense	probably damaging	0.98
R2112:Crnkl1	UTSW	2	145930697	nonsense	probably null
R2405:Crnkl1	UTSW	2	145928157	nonsense	probably null
R2972:Crnkl1	UTSW	2	145932261	missense	probably benign	0.07
R2973:Crnkl1	UTSW	2	145932261	missense	probably benign	0.07
R2974:Crnkl1	UTSW	2	145932261	missense	probably benign	0.07
R3811:Crnkl1	UTSW	2	145931306	missense	probably damaging	1.00
R4037:Crnkl1	UTSW	2	145932327	missense	possibly damaging	0.82
R4038:Crnkl1	UTSW	2	145932327	missense	possibly damaging	0.82
R4039:Crnkl1	UTSW	2	145932327	missense	possibly damaging	0.82
R4976:Crnkl1	UTSW	2	145923876	missense	possibly damaging	0.86
R5396:Crnkl1	UTSW	2	145928212	missense	possibly damaging	0.74
R5868:Crnkl1	UTSW	2	145918553	missense	probably benign	0.11
R6245:Crnkl1	UTSW	2	145928131	missense	probably benign	0.03
R6564:Crnkl1	UTSW	2	145928245	missense	possibly damaging	0.67
R7772:Crnkl1	UTSW	2	145930644	missense	probably benign	0.17
R7787:Crnkl1	UTSW	2	145925595	missense	probably benign	0.05
R7829:Crnkl1	UTSW	2	145931349	missense	probably benign	0.20
R8022:Crnkl1	UTSW	2	145918566	missense	probably damaging	0.99
R8045:Crnkl1	UTSW	2	145932931	missense	probably damaging	1.00
R8805:Crnkl1	UTSW	2	145931430	critical splice acceptor site	probably null
R9211:Crnkl1	UTSW	2	145932853	missense	probably damaging	0.99
R9256:Crnkl1	UTSW	2	145928296	missense	possibly damaging	0.68
R9274:Crnkl1	UTSW	2	145923916	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTCAGGATTGGTTTCCC -3'
(R):5'- TTGAGTTATCGTCTGGGAAAGAAGG -3'

Sequencing Primer
(F):5'- GGTTTCCCTCTATAAGGTGAAGCTC -3'
(R):5'- GAAGTGTGGCTAAATGCAGAC -3'

Posted On

2015-03-25