Mutagenetix > Incidental Mutations

Incidental Mutation 'R7772:Crnkl1'

598622

Institutional Source

Beutler Lab

Gene Symbol

Crnkl1

Ensembl Gene

ENSMUSG00000001767

Gene Name

crooked neck pre-mRNA splicing factor 1

Synonyms

5730590A01Rik, crn, 1200013P10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145917479-145935014 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145930644 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 171 (V171A)

Ref Sequence

ENSEMBL: ENSMUSP00000001818 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000001818
AA Change: V171A

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000001818
Gene: ENSMUSG00000001767
AA Change: V171A

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

probably benign
Transcript: ENSMUST00000152515

Meta Mutation Damage Score

0.3858

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,889,784		probably null	Het
Adora3	T	C	3: 105,907,723	V263A	probably benign	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Arfgef1	A	G	1: 10,157,010	V1368A	possibly damaging	Het
Arid4a	A	T	12: 71,061,589	N56I	possibly damaging	Het
Art3	A	T	5: 92,403,613	Y277F	probably damaging	Het
Atp2a1	A	T	7: 126,448,535		probably null	Het
Banf1	T	C	19: 5,365,122	K54E	possibly damaging	Het
Bckdk	A	G	7: 127,905,901	Y151C	probably damaging	Het
C1qtnf3	C	A	15: 10,958,044	P58T	possibly damaging	Het
Cadps2	T	C	6: 23,390,446	R744G	probably benign	Het
Cdc25b	A	G	2: 131,189,109	D118G	probably damaging	Het
Cnot9	G	A	1: 74,526,992	V181I	probably damaging	Het
Cobl	C	T	11: 12,254,488	G738D	probably benign	Het
Col18a1	T	A	10: 77,068,386		probably null	Het
Dhx57	C	T	17: 80,273,078	D482N	possibly damaging	Het
Dpysl2	A	T	14: 66,828,976		probably null	Het
Drd3	G	T	16: 43,762,395	A52S	probably benign	Het
Dst	T	C	1: 34,181,388	V2091A	possibly damaging	Het
Evpl	T	C	11: 116,221,435	T1810A	probably benign	Het
Fbxo2	T	A	4: 148,164,326	W92R	probably damaging	Het
Gas2l2	T	A	11: 83,429,277	D51V	possibly damaging	Het
Gm11232	A	T	4: 71,756,581	V228E	possibly damaging	Het
Gm14305	C	T	2: 176,720,971	Q219*	probably null	Het
Gpr137b	T	C	13: 13,359,406	Y355C	probably damaging	Het
Gpr39	G	T	1: 125,677,597	M87I	possibly damaging	Het
Heatr1	T	C	13: 12,417,641	M1089T	probably benign	Het
Ifi206	A	T	1: 173,481,074	M452K		Het
Ints8	A	T	4: 11,227,190	I561N	probably damaging	Het
Itgb2	A	T	10: 77,561,112	K660N	probably benign	Het
Jun	A	C	4: 95,050,844	V143G	probably benign	Het
Kalrn	A	G	16: 34,031,582	M2076T	probably benign	Het
Krt10	G	T	11: 99,389,087	S82R	unknown	Het
Lipm	T	A	19: 34,117,891	H295Q	probably damaging	Het
Mybpc2	A	C	7: 44,515,924		probably null	Het
Nedd4	T	C	9: 72,677,326	V103A	possibly damaging	Het
Nol10	T	C	12: 17,348,585	I11T	probably damaging	Het
Nup210l	A	G	3: 90,159,926	S758G	probably damaging	Het
Olfr270	T	A	4: 52,970,713	C31S	probably damaging	Het
Olfr584	T	G	7: 103,086,181	I216S	probably benign	Het
Olfr985	T	C	9: 40,127,365	I199V	probably benign	Het
Osbpl9	T	C	4: 109,066,187	H425R	probably damaging	Het
Parp1	G	T	1: 180,589,398	R582S	possibly damaging	Het
Piwil1	A	T	5: 128,739,463	R36S	probably benign	Het
Pjvk	T	C	2: 76,657,533		probably null	Het
Plekha6	G	T	1: 133,170,022	E31D	possibly damaging	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,790,701		probably benign	Het
Psmc6	T	A	14: 45,343,650	I301N	probably damaging	Het
Rfpl4	C	A	7: 5,115,544	S9I	probably benign	Het
Rnf14	G	T	18: 38,309,576	C310F	probably damaging	Het
Rnf17	T	A	14: 56,477,687	F845L	probably benign	Het
Robo2	T	C	16: 73,961,889	I665V	probably benign	Het
Rtl1	T	A	12: 109,593,185	H740L	probably damaging	Het
Ryr2	A	G	13: 11,751,011	S1280P	probably benign	Het
Slc12a8	G	A	16: 33,550,965	R126H	probably damaging	Het
Slc9a1	T	C	4: 133,411,965	F165L	probably damaging	Het
Snx19	T	C	9: 30,428,925	I453T	probably damaging	Het
Spag17	T	C	3: 100,080,118	Y1575H	probably damaging	Het
Spef2	T	C	15: 9,704,481	I415M	probably damaging	Het
Ssx2ip	T	G	3: 146,433,130	I459S	probably damaging	Het
Stfa1	A	G	16: 36,277,001		probably null	Het
Tmem156	A	T	5: 65,080,174	S48T	probably damaging	Het
Tmx3	T	A	18: 90,527,794		probably null	Het
Unc93a	A	T	17: 13,109,752	F405I	possibly damaging	Het
Vmn1r209	T	A	13: 22,806,494	I9F	possibly damaging	Het
Vmn2r93	A	G	17: 18,313,220	D462G	probably damaging	Het
Wdr90	T	A	17: 25,861,491		probably benign	Het
Zfp551	T	C	7: 12,418,608	D66G	probably damaging	Het
Znrf4	A	C	17: 56,512,247	V20G	possibly damaging	Het
Zscan4d	T	C	7: 11,162,843	E200G	probably benign	Het
Zufsp	A	T	10: 33,921,702		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGGACGAAACTTGCCTTC -3'
(R):5'- ATGAAGCCTTCCTCCCCTATGG -3'

Sequencing Primer
(F):5'- GTAGCTACATGTCTTTACTGTGAC -3'
(R):5'- CCTCCTGAGTCATTTTGACC -3'

Posted On

2019-11-26