Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Scyl3'

487317

Institutional Source

Beutler Lab

Gene Symbol

Scyl3

Ensembl Gene

ENSMUSG00000026584

Gene Name

SCY1-like 3 (S. cerevisiae)

Synonyms

1200016D23Rik, Pace1

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

163756669-163782695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 163778145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 428 (M428L)

Ref Sequence

ENSEMBL: ENSMUSP00000132109 (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
AA Change: M441L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
AA Change: M441L

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 benign
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
AA Change: M428L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
AA Change: M428L

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
AA Change: M428L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
AA Change: M428L

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

noncoding transcript
Transcript: ENSMUST00000162920

Meta Mutation Damage Score

0.0998

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,636,909 (GRCm39)	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,498,023 (GRCm39)	R255C	probably damaging	Het
Bbs12	A	G	3: 37,374,700 (GRCm39)	I383V	probably benign	Het
Cacna1h	G	A	17: 25,604,668 (GRCm39)	P1215L	probably benign	Het
Calm5	A	T	13: 3,904,491 (GRCm39)	K62*	probably null	Het
Chd8	T	A	14: 52,444,491 (GRCm39)	H398L	probably benign	Het
Cspg4b	A	G	13: 113,454,217 (GRCm39)	T88A	probably benign	Het
Dlgap2	A	T	8: 14,777,193 (GRCm39)	H146L	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dusp29	C	A	14: 21,736,758 (GRCm39)	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706 (GRCm39)	N369S	probably damaging	Het
Fer1l4	A	C	2: 155,888,907 (GRCm39)	V422G	probably damaging	Het
Fstl4	T	C	11: 53,077,130 (GRCm39)	M629T	probably benign	Het
Galnt18	A	G	7: 111,084,400 (GRCm39)	Y507H	probably damaging	Het
Gar1	C	A	3: 129,624,399 (GRCm39)		probably benign	Het
Gm19402	T	C	10: 77,526,507 (GRCm39)	T29A	probably damaging	Het
Gm826	A	G	2: 160,169,034 (GRCm39)	F92L	unknown	Het
H1f0	T	A	15: 78,913,070 (GRCm39)	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,376,439 (GRCm39)	Y186C	probably damaging	Het
Hgf	A	G	5: 16,803,159 (GRCm39)	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsf2	T	C	10: 57,388,101 (GRCm39)	V415A	probably benign	Het
Ins2	C	A	7: 142,233,430 (GRCm39)		probably null	Het
Kel	A	T	6: 41,667,720 (GRCm39)	F89L	probably damaging	Het
Lratd2	T	C	15: 60,695,146 (GRCm39)	N200S	probably damaging	Het
Lrrc37a	T	C	11: 103,392,386 (GRCm39)	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,027,180 (GRCm39)	G397C	probably damaging	Het
Madd	A	G	2: 90,982,797 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,043,125 (GRCm39)	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,922,248 (GRCm39)	T298I	possibly damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mpdz	A	T	4: 81,215,764 (GRCm39)	C1487S	probably benign	Het
Mtus1	A	G	8: 41,537,576 (GRCm39)	S47P	probably damaging	Het
Nek1	T	C	8: 61,481,735 (GRCm39)	S217P	probably damaging	Het
Or10ag59	T	C	2: 87,405,590 (GRCm39)	I54T	probably benign	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Perm1	A	G	4: 156,302,176 (GRCm39)	E240G	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,354,772 (GRCm39)	T644M	possibly damaging	Het
Rgs2	T	C	1: 143,879,763 (GRCm39)	K32E	probably damaging	Het
Slc30a8	A	G	15: 52,198,530 (GRCm39)	D325G	probably benign	Het
Slc5a9	G	T	4: 111,741,002 (GRCm39)	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,036,457 (GRCm39)		probably null	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slit3	T	C	11: 35,461,560 (GRCm39)		probably null	Het
Stk39	C	A	2: 68,222,468 (GRCm39)	G199C	probably damaging	Het
Tbx1	A	G	16: 18,402,216 (GRCm39)	F263L	probably damaging	Het
Tcf21	G	T	10: 22,695,665 (GRCm39)	N46K	probably benign	Het
Tdrd9	T	A	12: 112,034,632 (GRCm39)	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,504,521 (GRCm39)	L625P	probably damaging	Het
Tmem131	G	A	1: 36,847,387 (GRCm39)	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,386,298 (GRCm39)	K56E	possibly damaging	Het
Triml2	G	A	8: 43,640,659 (GRCm39)	V172I	probably benign	Het
Trmt44	C	A	5: 35,722,842 (GRCm39)	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,432,204 (GRCm39)	A921T	probably damaging	Het
Ube2o	T	C	11: 116,435,576 (GRCm39)	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,483,203 (GRCm39)	T22A	probably benign	Het
Ugp2	A	T	11: 21,279,815 (GRCm39)	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172 (GRCm39)	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,990,836 (GRCm39)	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,463,871 (GRCm39)	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,429,208 (GRCm39)	*646R	probably null	Het
Zranb3	T	A	1: 127,887,482 (GRCm39)	N982Y	probably benign	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
R6268:Scyl3	UTSW	1	163,773,786 (GRCm39)	nonsense	probably null
R6374:Scyl3	UTSW	1	163,776,783 (GRCm39)	missense	probably benign	0.12
R7397:Scyl3	UTSW	1	163,778,487 (GRCm39)	splice site	probably null
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'- TAGTTCTGTCCCATCACCAAGTG -3'
(R):5'- ACTTACCATTCTCAGGAACAGCTC -3'

Sequencing Primer
(F):5'- TGGCAACAGAACCTGTCTTTAAC -3'
(R):5'- TTCTCAGGAACAGCTCAGAGC -3'

Posted On

2017-10-10