Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Crnkl1'

701848

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R9256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145759402-145776620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145770216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 209 (V209A)

Ref Sequence

ENSEMBL: ENSMUSP00000001818 (fasta)

Gene Model

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

AlphaFold

P63154

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001818
AA Change: V209A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: V209A

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,945,930 (GRCm39)	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,060,218 (GRCm39)	I290F	probably damaging	Het
Adcy5	G	A	16: 35,124,052 (GRCm39)	V1244I	probably damaging	Het
Adnp	A	T	2: 168,025,945 (GRCm39)	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,136,211 (GRCm39)	M1K	probably null	Het
Alox15	C	T	11: 70,236,370 (GRCm39)	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,363,502 (GRCm39)	E685*	probably null	Het
Atp13a2	A	G	4: 140,730,038 (GRCm39)	E643G	probably damaging	Het
AW554918	C	A	18: 25,423,061 (GRCm39)	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,558,352 (GRCm39)	T198A	probably benign	Het
C7	T	C	15: 5,023,645 (GRCm39)	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,797,848 (GRCm39)	Y823H	unknown	Het
Cd74	T	C	18: 60,944,366 (GRCm39)	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,361,067 (GRCm39)	A231T	probably damaging	Het
Cers6	G	A	2: 68,777,706 (GRCm39)		probably benign	Het
Copg2	T	C	6: 30,788,637 (GRCm39)	I555M	probably benign	Het
Cracd	T	G	5: 76,988,757 (GRCm39)	V36G	unknown	Het
Dock7	T	C	4: 98,971,272 (GRCm39)	T98A		Het
Enpp5	T	C	17: 44,396,414 (GRCm39)	I442T	probably benign	Het
Fbxw19	T	C	9: 109,310,641 (GRCm39)	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Fyb1	T	G	15: 6,674,358 (GRCm39)	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,313,417 (GRCm39)	Y16C	probably benign	Het
Ints10	A	G	8: 69,261,129 (GRCm39)	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,198 (GRCm39)	I742N	possibly damaging	Het
Kcnn3	T	C	3: 89,574,407 (GRCm39)	Y640H	probably damaging	Het
Lrp2	A	G	2: 69,341,303 (GRCm39)	V959A	probably benign	Het
Marcksl1	A	G	4: 129,408,816 (GRCm39)	S132G	probably benign	Het
Mfsd4b3-ps	T	A	10: 39,824,010 (GRCm39)	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862 (GRCm39)	E384G	possibly damaging	Het
Morn5	G	T	2: 35,939,553 (GRCm39)	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,432,671 (GRCm39)	S36P	probably benign	Het
Mtif2	T	C	11: 29,490,777 (GRCm39)	F494L	probably benign	Het
Naalad2	T	C	9: 18,274,534 (GRCm39)	N336S	probably benign	Het
Nepro	A	G	16: 44,544,790 (GRCm39)	N22S	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or10x4	C	T	1: 174,219,109 (GRCm39)	T158I	probably benign	Het
Or1e1f	A	T	11: 73,856,135 (GRCm39)	I234F	probably benign	Het
Or2d36	T	C	7: 106,747,387 (GRCm39)	I288T	probably damaging	Het
Or8c16	T	A	9: 38,130,498 (GRCm39)	Y123*	probably null	Het
Or9r7	A	G	10: 129,962,335 (GRCm39)	V197A	possibly damaging	Het
Pcnx1	A	T	12: 82,020,047 (GRCm39)	N724Y		Het
Pde8b	G	A	13: 95,164,204 (GRCm39)	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Prb1b	T	C	6: 132,288,972 (GRCm39)	N284S	unknown	Het
Prtg	A	T	9: 72,758,977 (GRCm39)	I444F	probably damaging	Het
Ptprb	A	T	10: 116,219,776 (GRCm39)	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,356,450 (GRCm39)	V133D	probably benign	Het
Rab35	C	A	5: 115,778,246 (GRCm39)	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,026,054 (GRCm39)	L46P	probably damaging	Het
Sdha	A	T	13: 74,475,483 (GRCm39)		probably benign	Het
Sdr39u1	C	A	14: 56,135,209 (GRCm39)	V245F	probably benign	Het
Sgo2a	T	A	1: 58,058,772 (GRCm39)	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 58,074,867 (GRCm39)	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,287,554 (GRCm39)	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,293,835 (GRCm39)		probably null	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem38b	A	T	4: 53,848,924 (GRCm39)	I110F	probably damaging	Het
Ubqln1	A	G	13: 58,325,721 (GRCm39)	I573T	probably damaging	Het
Usp9y	T	C	Y: 1,356,235 (GRCm39)	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,490,118 (GRCm39)	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,925 (GRCm39)	S1281A	possibly damaging	Het
Vps13d	A	G	4: 144,882,374 (GRCm39)	L1073P		Het
Wipi1	C	T	11: 109,473,952 (GRCm39)		probably null	Het
Zdhhc8	G	A	16: 18,042,686 (GRCm39)	P505S	probably damaging	Het
Zfp292	C	T	4: 34,839,899 (GRCm39)	V84I	probably benign	Het
Zfp712	T	C	13: 67,188,791 (GRCm39)	T579A	probably benign	Het
Zfp788	G	A	7: 41,299,638 (GRCm39)	R758Q	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
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
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'- TCCAATGTAGAGCTCAGCAATAC -3'
(R):5'- AGTTGCTAGCCTCCTTTGTG -3'

Sequencing Primer
(F):5'- GAGATGAACTCATTGTGACTTACTTC -3'
(R):5'- ATCCCCACTTGTATTTGGAATTG -3'

Posted On

2022-03-25