Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Crnkl1'

158927

Institutional Source

Beutler Lab

Gene Symbol

Crnkl1

Ensembl Gene

ENSMUSG00000001767

Gene Name

crooked neck pre-mRNA splicing factor 1

Synonyms

crn, 5730590A01Rik, 1200013P10Rik

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145759402-145776620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 145763739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 500 (A500T)

Ref Sequence

ENSEMBL: ENSMUSP00000001818 (fasta)

Gene Model

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

AlphaFold

P63154

Predicted Effect

probably damaging
Transcript: ENSMUST00000001818
AA Change: A500T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: A500T

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

Meta Mutation Damage Score

0.2718

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 79.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Fam20a	A	C	11: 109,568,143 (GRCm39)	F316V	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	Het

Other mutations in Crnkl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Crnkl1	APN	2	145,760,388 (GRCm39)	missense	possibly damaging	0.75
IGL01092:Crnkl1	APN	2	145,761,868 (GRCm39)	missense	probably benign	0.00
IGL01643:Crnkl1	APN	2	145,773,268 (GRCm39)	missense	probably damaging	0.99
IGL01902:Crnkl1	APN	2	145,766,632 (GRCm39)	splice site	probably null
IGL01908:Crnkl1	APN	2	145,770,075 (GRCm39)	missense	probably benign	0.01
IGL01934:Crnkl1	APN	2	145,773,202 (GRCm39)	missense	probably benign	0.02
IGL01947:Crnkl1	APN	2	145,763,744 (GRCm39)	missense	probably benign	0.05
IGL02342:Crnkl1	APN	2	145,766,633 (GRCm39)	critical splice donor site	probably null
IGL02721:Crnkl1	APN	2	145,765,801 (GRCm39)	missense	possibly damaging	0.90
IGL02794:Crnkl1	APN	2	145,772,532 (GRCm39)	missense	possibly damaging	0.55
IGL02877:Crnkl1	APN	2	145,762,591 (GRCm39)	nonsense	probably null
IGL03131:Crnkl1	APN	2	145,774,178 (GRCm39)	missense	probably benign	0.02
R0326:Crnkl1	UTSW	2	145,761,875 (GRCm39)	missense	probably benign
R1462:Crnkl1	UTSW	2	145,763,739 (GRCm39)	missense	probably damaging	0.97
R1471:Crnkl1	UTSW	2	145,774,236 (GRCm39)	missense	possibly damaging	0.69
R1951:Crnkl1	UTSW	2	145,770,120 (GRCm39)	missense	probably damaging	0.98
R1952:Crnkl1	UTSW	2	145,770,120 (GRCm39)	missense	probably damaging	0.98
R1953:Crnkl1	UTSW	2	145,770,120 (GRCm39)	missense	probably damaging	0.98
R2112:Crnkl1	UTSW	2	145,772,617 (GRCm39)	nonsense	probably null
R2405:Crnkl1	UTSW	2	145,770,077 (GRCm39)	nonsense	probably null
R2972:Crnkl1	UTSW	2	145,774,181 (GRCm39)	missense	probably benign	0.07
R2973:Crnkl1	UTSW	2	145,774,181 (GRCm39)	missense	probably benign	0.07
R2974:Crnkl1	UTSW	2	145,774,181 (GRCm39)	missense	probably benign	0.07
R3801:Crnkl1	UTSW	2	145,761,715 (GRCm39)	missense	probably benign
R3811:Crnkl1	UTSW	2	145,773,226 (GRCm39)	missense	probably damaging	1.00
R4037:Crnkl1	UTSW	2	145,774,247 (GRCm39)	missense	possibly damaging	0.82
R4038:Crnkl1	UTSW	2	145,774,247 (GRCm39)	missense	possibly damaging	0.82
R4039:Crnkl1	UTSW	2	145,774,247 (GRCm39)	missense	possibly damaging	0.82
R4976:Crnkl1	UTSW	2	145,765,796 (GRCm39)	missense	possibly damaging	0.86
R5396:Crnkl1	UTSW	2	145,770,132 (GRCm39)	missense	possibly damaging	0.74
R5868:Crnkl1	UTSW	2	145,760,473 (GRCm39)	missense	probably benign	0.11
R6245:Crnkl1	UTSW	2	145,770,051 (GRCm39)	missense	probably benign	0.03
R6564:Crnkl1	UTSW	2	145,770,165 (GRCm39)	missense	possibly damaging	0.67
R7772:Crnkl1	UTSW	2	145,772,564 (GRCm39)	missense	probably benign	0.17
R7787:Crnkl1	UTSW	2	145,767,515 (GRCm39)	missense	probably benign	0.05
R7829:Crnkl1	UTSW	2	145,773,269 (GRCm39)	missense	probably benign	0.20
R8022:Crnkl1	UTSW	2	145,760,486 (GRCm39)	missense	probably damaging	0.99
R8045:Crnkl1	UTSW	2	145,774,851 (GRCm39)	missense	probably damaging	1.00
R8805:Crnkl1	UTSW	2	145,773,350 (GRCm39)	critical splice acceptor site	probably null
R9211:Crnkl1	UTSW	2	145,774,773 (GRCm39)	missense	probably damaging	0.99
R9256:Crnkl1	UTSW	2	145,770,216 (GRCm39)	missense	possibly damaging	0.68
R9274:Crnkl1	UTSW	2	145,765,836 (GRCm39)	missense	probably damaging	1.00
R9525:Crnkl1	UTSW	2	145,770,198 (GRCm39)	missense	probably benign	0.02
R9547:Crnkl1	UTSW	2	145,772,550 (GRCm39)	missense	possibly damaging	0.71
R9678:Crnkl1	UTSW	2	145,761,875 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTCCAGGCAAGACTACCCTATG -3'
(R):5'- TGGGACAGATTCACACGGACTAAGG -3'

Sequencing Primer
(F):5'- GGGATTGCTGCTGACACTC -3'
(R):5'- ATTCTCCAGGGAACTTCCATAGG -3'

Posted On

2014-03-14