Mutagenetix > Incidental Mutation

Incidental Mutation 'R7397:Scyl3'

605566

Institutional Source

Beutler Lab

Gene Symbol

Scyl3

Ensembl Gene

ENSMUSG00000026584

Gene Name

SCY1-like 3 (S. cerevisiae)

Synonyms

1200016D23Rik, Pace1

MMRRC Submission

045479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R7397 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

163756669-163782695 bp(+) (GRCm39)

Type of Mutation

splice site (3231 bp from exon)

DNA Base Change (assembly)

T to C at 163778487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027876] [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000159516] [ENSMUST00000159617] [ENSMUST00000161908] [ENSMUST00000162234] [ENSMUST00000170359]

AlphaFold

Q9DBQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000027876

SMART Domains

Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584

Domain	Start	End	E-Value	Type
Pfam:Pkinase	32	245	1.9e-7	PFAM
low complexity region	525	541	N/A	INTRINSIC
low complexity region	711	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045876

SMART Domains

Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	2.3e-209	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000097493

SMART Domains

Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	1.3e-186	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159516

Predicted Effect

probably benign
Transcript: ENSMUST00000159617

Predicted Effect

probably benign
Transcript: ENSMUST00000161908

SMART Domains

Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	274	1.5e-8	PFAM
low complexity region	512	528	N/A	INTRINSIC
low complexity region	698	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162234

Predicted Effect

probably benign
Transcript: ENSMUST00000170359

SMART Domains

Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584

Domain	Start	End	E-Value	Type
Pfam:Pkinase	25	274	1.5e-8	PFAM
low complexity region	512	528	N/A	INTRINSIC
low complexity region	698	718	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,848 (GRCm39)	H3R	unknown	Het
Adam18	T	A	8: 25,136,321 (GRCm39)	E400V	possibly damaging	Het
Ak5	A	T	3: 152,183,989 (GRCm39)	F473I	probably damaging	Het
Arhgef10l	G	A	4: 140,290,115 (GRCm39)	P486S	probably damaging	Het
Asphd1	T	A	7: 126,548,001 (GRCm39)	R101W	possibly damaging	Het
Bhlha15	G	A	5: 144,128,223 (GRCm39)	E112K	probably damaging	Het
C4b	A	T	17: 34,961,364 (GRCm39)	D198E	possibly damaging	Het
Carmil1	G	T	13: 24,228,294 (GRCm39)	P961T	probably damaging	Het
Catsperb	T	C	12: 101,554,282 (GRCm39)	S659P	possibly damaging	Het
Cdh3	C	T	8: 107,263,241 (GRCm39)	R97*	probably null	Het
Cep192	T	C	18: 67,989,268 (GRCm39)	I1805T	probably damaging	Het
Cep250	T	G	2: 155,823,331 (GRCm39)	L995R	probably damaging	Het
Cfap276	T	A	3: 108,450,864 (GRCm39)	I102N	probably benign	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chd5	A	G	4: 152,452,469 (GRCm39)	K809E	possibly damaging	Het
Csmd3	T	C	15: 47,559,130 (GRCm39)	T1467A		Het
Ctla2a	T	A	13: 61,083,463 (GRCm39)	R60S	probably damaging	Het
Cts6	A	T	13: 61,350,014 (GRCm39)	D22E	possibly damaging	Het
Ctsll3	T	A	13: 60,948,532 (GRCm39)	E109V	probably benign	Het
Dgka	G	A	10: 128,556,594 (GRCm39)	P701S	possibly damaging	Het
Dnhd1	A	T	7: 105,354,504 (GRCm39)	I3089F	possibly damaging	Het
Dock2	T	A	11: 34,609,816 (GRCm39)	D208V	probably benign	Het
Fnbp1l	G	T	3: 122,338,286 (GRCm39)	Q520K	probably benign	Het
Foxc1	A	G	13: 31,991,618 (GRCm39)	D143G	probably damaging	Het
Fsip2	G	A	2: 82,815,601 (GRCm39)	R3778Q	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm4871	A	T	5: 144,969,508 (GRCm39)	C4S	probably damaging	Het
Gpt	C	A	15: 76,582,717 (GRCm39)	T294K	probably benign	Het
Hsd17b4	G	T	18: 50,279,491 (GRCm39)	G157C	probably damaging	Het
Iars1	G	A	13: 49,882,153 (GRCm39)	E1066K	probably benign	Het
Ifih1	G	A	2: 62,453,832 (GRCm39)	T260I	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ipcef1	T	A	10: 6,922,244 (GRCm39)	*338R	probably null	Het
Kif20a	A	G	18: 34,760,729 (GRCm39)	T166A	probably damaging	Het
Map3k1	G	A	13: 111,891,742 (GRCm39)	A1171V	probably damaging	Het
Map3k21	T	C	8: 126,661,855 (GRCm39)	F484S	probably damaging	Het
Mbnl1	A	T	3: 60,523,051 (GRCm39)	Q180L	probably benign	Het
Mmp2	T	C	8: 93,562,755 (GRCm39)	F331L	possibly damaging	Het
Ms4a7	G	T	19: 11,298,916 (GRCm39)	H257N	probably benign	Het
Mtbp	T	A	15: 55,432,547 (GRCm39)	S285T	probably benign	Het
Mtrex	A	T	13: 113,058,220 (GRCm39)	D70E	probably benign	Het
Myo1c	A	G	11: 75,562,068 (GRCm39)	N852S	probably benign	Het
Myom3	T	A	4: 135,510,429 (GRCm39)	F574Y	probably damaging	Het
Nbeal2	A	G	9: 110,457,100 (GRCm39)	I2322T	possibly damaging	Het
Nlrp10	A	G	7: 108,523,899 (GRCm39)	L527P	probably damaging	Het
Nudt16l2	A	T	9: 105,021,621 (GRCm39)	W142R	probably damaging	Het
Nxnl1	C	T	8: 72,019,105 (GRCm39)	G40D	probably damaging	Het
Or52n1	C	T	7: 104,382,815 (GRCm39)	C252Y	possibly damaging	Het
Or5af1	C	T	11: 58,722,115 (GRCm39)	T45M	probably benign	Het
Otof	A	T	5: 30,533,051 (GRCm39)	W1564R	probably damaging	Het
Pcdhga7	A	G	18: 37,850,327 (GRCm39)	Y778C	probably benign	Het
Pcnx2	C	T	8: 126,617,624 (GRCm39)		probably null	Het
Pdpr	T	A	8: 111,839,385 (GRCm39)	N169K	possibly damaging	Het
Pkd1l2	C	A	8: 117,762,641 (GRCm39)	V1379F	possibly damaging	Het
Ppp4r1	T	G	17: 66,144,786 (GRCm39)	I801S	probably benign	Het
Ppp4r4	A	T	12: 103,579,065 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,366,327 (GRCm39)	D202G	probably benign	Het
Rap1gap2	T	C	11: 74,305,237 (GRCm39)	T323A	probably benign	Het
Rapgef4	T	C	2: 72,036,010 (GRCm39)	M501T	probably benign	Het
Rbm6	A	G	9: 107,729,718 (GRCm39)	M310T	probably benign	Het
Rdh1	A	T	10: 127,596,047 (GRCm39)	I81F	probably benign	Het
Rock1	C	T	18: 10,097,599 (GRCm39)	A730T	possibly damaging	Het
Rsl1	C	T	13: 67,330,101 (GRCm39)	T183I	possibly damaging	Het
Snap29	T	C	16: 17,237,236 (GRCm39)	F116L	probably damaging	Het
Syt5	A	T	7: 4,545,395 (GRCm39)		probably null	Het
Tat	T	C	8: 110,724,200 (GRCm39)	L363P	probably damaging	Het
Ttn	A	G	2: 76,601,316 (GRCm39)	V18719A	possibly damaging	Het
Ube2e2	T	A	14: 18,630,339 (GRCm38)	D107V	probably damaging	Het
Vmn1r64	A	G	7: 5,887,013 (GRCm39)	S177P	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	Het
Vmn2r124	T	C	17: 18,282,947 (GRCm39)	W214R	probably damaging	Het
Vmn2r25	A	T	6: 123,800,498 (GRCm39)	F615I	probably damaging	Het
Vmn2r91	G	T	17: 18,356,060 (GRCm39)	V576L	probably benign	Het
Vsig10l	A	C	7: 43,117,431 (GRCm39)	T573P	probably damaging	Het
Wdr93	A	G	7: 79,416,172 (GRCm39)	Q276R	probably null	Het
Zc3h7b	T	C	15: 81,653,354 (GRCm39)	V86A	possibly damaging	Het
Zeb1	T	A	18: 5,761,394 (GRCm39)	Y231N	probably damaging	Het
Zfp407	T	C	18: 84,579,944 (GRCm39)	K390E	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Scyl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Scyl3	APN	1	163,762,338 (GRCm39)	nonsense	probably null
IGL03410:Scyl3	APN	1	163,772,436 (GRCm39)	missense	probably damaging	1.00
R0017:Scyl3	UTSW	1	163,767,538 (GRCm39)	missense	possibly damaging	0.53
R0017:Scyl3	UTSW	1	163,767,538 (GRCm39)	missense	possibly damaging	0.53
R1138:Scyl3	UTSW	1	163,761,234 (GRCm39)	missense	possibly damaging	0.47
R1363:Scyl3	UTSW	1	163,778,259 (GRCm39)	missense	probably benign	0.01
R1564:Scyl3	UTSW	1	163,767,553 (GRCm39)	critical splice donor site	probably null
R1843:Scyl3	UTSW	1	163,778,244 (GRCm39)	missense	probably benign
R1856:Scyl3	UTSW	1	163,761,265 (GRCm39)	splice site	probably null
R3873:Scyl3	UTSW	1	163,778,206 (GRCm39)	missense	probably benign	0.00
R4018:Scyl3	UTSW	1	163,764,068 (GRCm39)	missense	possibly damaging	0.83
R4746:Scyl3	UTSW	1	163,776,820 (GRCm39)	missense	probably damaging	1.00
R4940:Scyl3	UTSW	1	163,762,316 (GRCm39)	missense	probably damaging	1.00
R5408:Scyl3	UTSW	1	163,782,245 (GRCm39)	splice site	probably null
R6125:Scyl3	UTSW	1	163,778,145 (GRCm39)	missense	probably benign
R6268:Scyl3	UTSW	1	163,773,786 (GRCm39)	nonsense	probably null
R6374:Scyl3	UTSW	1	163,776,783 (GRCm39)	missense	probably benign	0.12
R7489:Scyl3	UTSW	1	163,776,745 (GRCm39)	missense	possibly damaging	0.94
R7529:Scyl3	UTSW	1	163,771,438 (GRCm39)	missense	probably damaging	0.99
R7615:Scyl3	UTSW	1	163,777,907 (GRCm39)	splice site	probably null
R8089:Scyl3	UTSW	1	163,763,996 (GRCm39)	missense	possibly damaging	0.69
R9162:Scyl3	UTSW	1	163,773,891 (GRCm39)	missense	probably benign	0.36
R9332:Scyl3	UTSW	1	163,764,007 (GRCm39)	missense	probably damaging	1.00
R9559:Scyl3	UTSW	1	163,779,773 (GRCm39)	missense	probably benign
R9739:Scyl3	UTSW	1	163,771,419 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTCCTACTGCTCTGAGCTG -3'
(R):5'- ACTGTTCCGAGACTCATCTTTAAC -3'

Sequencing Primer
(F):5'- GCTGTTCCTGAGAATGGTAAGTACAC -3'
(R):5'- AACTTGTGTCCCCTGCAAGAG -3'

Posted On

2019-12-20