Mutagenetix > Incidental Mutation

Incidental Mutation 'R5396:Crnkl1'

429633

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

044394-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R5396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145759402-145776620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145770132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

Ref Sequence

ENSEMBL: ENSMUSP00000001818 (fasta)

Gene Model

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

AlphaFold

P63154

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001818
AA Change: V237A

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: V237A

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

noncoding transcript
Transcript: ENSMUST00000145425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147904

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	T	C	2: 127,028,873 (GRCm39)	T109A	probably damaging	Het
A430005L14Rik	GCC	G	4: 154,045,410 (GRCm39)		probably null	Het
Actr1a	T	C	19: 46,384,103 (GRCm39)	D5G	possibly damaging	Het
Adra2c	A	G	5: 35,438,217 (GRCm39)	T330A	probably benign	Het
Ahcyl2	C	T	6: 29,859,697 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,984,539 (GRCm39)	V1941A	probably damaging	Het
Akr1b7	G	A	6: 34,389,411 (GRCm39)		probably null	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ank2	A	G	3: 126,746,875 (GRCm39)	V570A	probably damaging	Het
Ano4	T	C	10: 88,948,702 (GRCm39)	E302G	probably damaging	Het
Bop1	A	T	15: 76,339,489 (GRCm39)	H285Q	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Catsperb	A	T	12: 101,560,543 (GRCm39)	I845L	possibly damaging	Het
Ccdc28b	G	T	4: 129,513,238 (GRCm39)	Q184K	probably damaging	Het
Cd101	A	G	3: 100,926,126 (GRCm39)	S198P	probably damaging	Het
Cdc7	A	T	5: 107,117,163 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,269 (GRCm39)	D1268G	probably benign	Het
Celsr3	C	T	9: 108,705,781 (GRCm39)	R755W	probably damaging	Het
Chrnb1	T	A	11: 69,684,979 (GRCm39)	N117I	probably damaging	Het
Chst11	C	A	10: 83,027,083 (GRCm39)	P170Q	probably damaging	Het
Clca3b	A	G	3: 144,552,932 (GRCm39)	Y98H	probably damaging	Het
Ctnnbl1	G	A	2: 157,659,752 (GRCm39)		probably null	Het
Dbndd1	C	A	8: 124,236,582 (GRCm39)	R95S	probably damaging	Het
Ddx3y	A	G	Y: 1,265,965 (GRCm39)	V344A	probably damaging	Het
Defb30	A	T	14: 63,273,559 (GRCm39)		probably null	Het
Dennd10	T	C	19: 60,823,274 (GRCm39)	L303P	probably benign	Het
Dnah17	C	T	11: 118,018,108 (GRCm39)	R129Q	probably benign	Het
Dnhd1	A	T	7: 105,362,891 (GRCm39)	M3818L	probably benign	Het
Dusp4	G	T	8: 35,284,458 (GRCm39)	D258Y	probably damaging	Het
E2f1	A	T	2: 154,406,368 (GRCm39)	F103I	probably benign	Het
Elavl2	T	C	4: 91,149,055 (GRCm39)	Y248C	probably damaging	Het
Ephb3	T	C	16: 21,037,855 (GRCm39)	V310A	possibly damaging	Het
Erbin	A	G	13: 103,993,917 (GRCm39)		probably null	Het
Etv4	A	T	11: 101,666,167 (GRCm39)	H120Q	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,608 (GRCm39)	F474L	probably benign	Het
Flot2	T	A	11: 77,940,314 (GRCm39)	C20*	probably null	Het
Fsip2	G	A	2: 82,821,262 (GRCm39)	G5665D	probably benign	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Glrp1	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG	1: 88,431,066 (GRCm39)		probably benign	Het
Gm43302	A	T	5: 105,427,955 (GRCm39)	L202*	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hnf1b	A	T	11: 83,746,863 (GRCm39)	M160L	probably damaging	Het
Inhbe	T	C	10: 127,186,470 (GRCm39)	T237A	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kmt2c	A	T	5: 25,499,732 (GRCm39)		probably null	Het
Kyat3	A	G	3: 142,440,367 (GRCm39)	K364E	probably benign	Het
Lars1	T	A	18: 42,350,024 (GRCm39)	T927S	probably benign	Het
Mfap1b	A	T	2: 121,304,371 (GRCm39)	M8K	probably benign	Het
Mroh8	G	A	2: 157,070,576 (GRCm39)	P592S	possibly damaging	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1x6	C	T	11: 50,939,297 (GRCm39)	A121V	probably damaging	Het
Or4c110	A	T	2: 88,832,540 (GRCm39)	L31M	probably benign	Het
Or51a24	T	C	7: 103,734,098 (GRCm39)	Y63C	probably benign	Het
Pcdha8	T	A	18: 37,126,787 (GRCm39)	V423E	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pde8a	T	C	7: 80,983,170 (GRCm39)	V791A	probably damaging	Het
Pds5a	A	G	5: 65,795,920 (GRCm39)	S657P	probably benign	Het
Pes1	CGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGG	11: 3,927,719 (GRCm39)		probably benign	Het
Rad51d	A	G	11: 82,781,196 (GRCm39)	V17A	possibly damaging	Het
Sdc1	A	T	12: 8,841,743 (GRCm39)		probably null	Het
Sdcbp2	T	A	2: 151,429,057 (GRCm39)	I152N	probably damaging	Het
Slc4a4	G	T	5: 89,194,076 (GRCm39)	M141I	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Spata6	T	C	4: 111,656,315 (GRCm39)	C320R	probably damaging	Het
Spata6l	T	C	19: 28,905,089 (GRCm39)	H325R	possibly damaging	Het
Ssu2	T	A	6: 112,357,957 (GRCm39)	T129S	probably damaging	Het
Stat5a	T	A	11: 100,771,409 (GRCm39)	W631R	probably damaging	Het
Sult1c2	T	A	17: 54,143,939 (GRCm39)	N122I	possibly damaging	Het
Synpo2	G	A	3: 122,911,331 (GRCm39)	Q105*	probably null	Het
Tert	G	A	13: 73,787,362 (GRCm39)	V783I	probably damaging	Het
Ticam1	G	T	17: 56,578,117 (GRCm39)	T326K	probably benign	Het
Tmem63b	T	C	17: 45,980,888 (GRCm39)	M269V	possibly damaging	Het
Tmem86a	T	A	7: 46,702,794 (GRCm39)	V73E	possibly damaging	Het
Trpv4	G	A	5: 114,761,675 (GRCm39)	R818C	possibly damaging	Het
Tstd2	A	G	4: 46,135,542 (GRCm39)	S4P	probably benign	Het
Ttn	A	T	2: 76,644,715 (GRCm39)	V4686E	probably damaging	Het
Ubash3b	A	G	9: 40,954,769 (GRCm39)		probably null	Het
Usp31	A	G	7: 121,267,005 (GRCm39)		probably null	Het
Usp33	A	G	3: 152,089,824 (GRCm39)	E780G	possibly damaging	Het
Vapb	T	A	2: 173,613,336 (GRCm39)	Y78*	probably null	Het
Vps13b	G	A	15: 35,887,094 (GRCm39)	R3227Q	probably damaging	Het
Vps33a	A	T	5: 123,696,693 (GRCm39)	I320N	probably damaging	Het
Wnt5a	T	C	14: 28,244,727 (GRCm39)	C305R	probably damaging	Het
Zbtb38	A	G	9: 96,569,696 (GRCm39)	C463R	probably damaging	Het
Zc3h12d	G	A	10: 7,742,090 (GRCm39)	C263Y	probably damaging	Het
Zfp971	G	A	2: 177,675,526 (GRCm39)	R375Q	probably damaging	Het
Znrf1	T	A	8: 112,345,826 (GRCm39)		probably null	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
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'- TCCAATGTAGAGCTCAGCAATACATG -3'
(R):5'- AACCTTTGGCATGTGCTGTG -3'

Sequencing Primer
(F):5'- GCATTCAGTTCCGTATTAAATTATGG -3'
(R):5'- CATGTGCTGTGCATGCGC -3'

Posted On

2016-09-06