Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01902:Crnkl1'

179572

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crnkl1

Ensembl Gene

ENSMUSG00000001767

Gene Name

crooked neck pre-mRNA splicing factor 1

Synonyms

5730590A01Rik, crn, 1200013P10Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01902

Quality Score

Status

Chromosome

Chromosomal Location

145917479-145935014 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 145924712 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000001818]

Predicted Effect

probably null
Transcript: ENSMUST00000001818

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767

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 null
Transcript: ENSMUST00000001818

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767

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

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,497,843	S228P	probably damaging	Het
Adamtsl2	A	T	2: 27,087,252	I242F	probably damaging	Het
Bicdl1	A	G	5: 115,651,874	L284P	probably damaging	Het
Bnc2	A	G	4: 84,390,944	I138T	probably damaging	Het
Cep350	A	G	1: 155,861,985	L2704S	probably damaging	Het
Col7a1	C	A	9: 108,977,827	P2442T	unknown	Het
Cpne6	A	T	14: 55,512,750	T113S	possibly damaging	Het
Cyp2c67	T	A	19: 39,649,026	D2V	probably damaging	Het
Frzb	T	A	2: 80,413,367	S323C	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Ins2	C	T	7: 142,679,442	C31Y	probably damaging	Het
Lipf	A	T	19: 33,970,779	N234Y	probably benign	Het
Mtf1	T	C	4: 124,804,927	F73L	probably damaging	Het
Nrxn1	A	G	17: 91,088,491		probably null	Het
Pcnx	A	G	12: 81,979,094	T1538A	probably damaging	Het
Polr1a	T	A	6: 71,963,748	V47D	probably damaging	Het
Prune2	A	G	19: 17,118,638	E502G	probably benign	Het
Ralgapa2	C	T	2: 146,315,014	V1886M	probably damaging	Het
Rapgef3	T	A	15: 97,750,300	H676L	probably benign	Het
Rbm20	A	T	19: 53,840,991	N607Y	probably damaging	Het
Smc5	G	A	19: 23,259,768	T233I	possibly damaging	Het
Snx13	A	T	12: 35,133,307		probably null	Het
Suz12	T	A	11: 80,025,950	C510S	probably benign	Het
Tab2	A	T	10: 7,919,992	M242K	probably benign	Het
Tep1	A	G	14: 50,866,091		probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	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
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
R3801:Crnkl1	UTSW	2	145919795	missense	probably benign
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

Posted On

2014-05-07