Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01643:Crnkl1'

93588

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: 0.971) question?

Stock #

IGL01643

Quality Score

Status

Chromosome

Chromosomal Location

145917479-145935014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145931348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 126 (M126T)

Ref Sequence

ENSEMBL: ENSMUSP00000001818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001818] [ENSMUST00000116398] [ENSMUST00000118002] [ENSMUST00000126415] [ENSMUST00000130168] [ENSMUST00000133433] [ENSMUST00000138774] [ENSMUST00000152515]

AlphaFold

P63154

Predicted Effect

probably damaging
Transcript: ENSMUST00000001818
AA Change: M126T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: M126T

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: ENSMUST00000116398

SMART Domains

Protein: ENSMUSP00000112099
Gene: ENSMUSG00000037143

Domain	Start	End	E-Value	Type
SCOP:d1b87a_	183	237	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118002

SMART Domains

Protein: ENSMUSP00000113529
Gene: ENSMUSG00000037143

Domain	Start	End	E-Value	Type
transmembrane domain	133	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126415

SMART Domains

Protein: ENSMUSP00000118626
Gene: ENSMUSG00000037143

Domain	Start	End	E-Value	Type
SCOP:d1b87a_	183	244	1e-5	SMART
low complexity region	355	368	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130168

SMART Domains

Protein: ENSMUSP00000121294
Gene: ENSMUSG00000037143

Domain	Start	End	E-Value	Type
transmembrane domain	133	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133433

SMART Domains

Protein: ENSMUSP00000118411
Gene: ENSMUSG00000037143

Domain	Start	End	E-Value	Type
Pfam:DUF4821	15	272	1.1e-96	PFAM
low complexity region	355	368	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC
low complexity region	1172	1182	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138774

SMART Domains

Protein: ENSMUSP00000120838
Gene: ENSMUSG00000037143

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
transmembrane domain	49	71	N/A	INTRINSIC
SCOP:d1b87a_	99	153	2e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147904

Predicted Effect

probably benign
Transcript: ENSMUST00000152515

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	T	11: 72,191,588	R304Q	probably damaging	Het
Afap1l1	T	A	18: 61,751,826	E196V	probably damaging	Het
Bmp5	A	T	9: 75,839,613	D251V	probably damaging	Het
Ccdc155	A	T	7: 45,200,286	M71K	probably damaging	Het
Ccser1	A	G	6: 61,311,855	H334R	probably benign	Het
Ddrgk1	T	C	2: 130,658,294		probably benign	Het
Dpy19l4	T	C	4: 11,290,184		probably benign	Het
Eral1	A	G	11: 78,074,278		probably null	Het
Ereg	T	A	5: 91,086,778	S17T	probably benign	Het
Fgfr1	T	A	8: 25,566,735	M280K	probably benign	Het
Gpr65	A	G	12: 98,275,754	E222G	probably damaging	Het
Grid1	G	T	14: 35,323,435		probably null	Het
Hspa12b	A	G	2: 131,142,697	T329A	probably damaging	Het
Inpp4b	A	G	8: 82,071,771	I863V	probably damaging	Het
Krt8	G	T	15: 101,997,073	S447Y	possibly damaging	Het
Lama2	T	A	10: 27,070,372		probably benign	Het
Lama4	A	C	10: 39,056,850	N574T	probably benign	Het
Lig3	T	C	11: 82,798,292	S791P	probably damaging	Het
Oas2	A	T	5: 120,736,187		probably benign	Het
Olfr1255	A	T	2: 89,816,673	I116F	probably damaging	Het
Pdk1	A	G	2: 71,897,705	D370G	probably damaging	Het
Popdc3	T	A	10: 45,314,880	I29N	probably damaging	Het
Rbp3	A	T	14: 33,956,836	I914F	probably benign	Het
Rnf207	C	T	4: 152,318,261		probably benign	Het
Ryr2	T	A	13: 11,692,677	I2825F	possibly damaging	Het
Slc37a2	A	T	9: 37,235,553		probably benign	Het
Vps8	T	C	16: 21,518,222	V791A	possibly damaging	Het
Wdr64	T	C	1: 175,772,311	L127P	probably damaging	Het
Whrn	T	C	4: 63,416,435	T368A	possibly 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
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
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
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
R9525:Crnkl1	UTSW	2	145928278	missense	probably benign	0.02
R9547:Crnkl1	UTSW	2	145930630	missense	possibly damaging	0.71

Posted On

2013-12-09