Mutagenetix > Incidental Mutation

Incidental Mutation 'R6159:Scyl1'

489783

Institutional Source

Beutler Lab

Gene Symbol

Scyl1

Ensembl Gene

ENSMUSG00000024941

Gene Name

SCY1-like 1 (S. cerevisiae)

Synonyms

2810011O19Rik, mfd, p105, mdf, Ntkl

MMRRC Submission

044306-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R6159 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

5808450-5821461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5814785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 381 (D381V)

Ref Sequence

ENSEMBL: ENSMUSP00000025890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025890]

AlphaFold

Q9EQC5

Predicted Effect

probably benign
Transcript: ENSMUST00000025890
AA Change: D381V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025890
Gene: ENSMUSG00000024941
AA Change: D381V

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
Pfam:Pkinase_Tyr	30	254	3.3e-11	PFAM
Pfam:Pkinase	31	252	2e-14	PFAM
SCOP:d1gw5a_	350	536	1e-18	SMART
low complexity region	556	577	N/A	INTRINSIC
low complexity region	608	620	N/A	INTRINSIC
coiled coil region	759	795	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.2%

Validation Efficiency

96% (54/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous mutation or a knock-out allele develop a motoneuron disease characterized by gait ataxia, reduced grip strength, tremors, progressive hindlimb paralysis, muscular atrophy, and motoneuron degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	C	6: 29,908,457 (GRCm39)	N609T	possibly damaging	Het
Ankzf1	G	A	1: 75,170,888 (GRCm39)	C98Y	probably damaging	Het
Atg101	T	A	15: 101,188,519 (GRCm39)	M208K	possibly damaging	Het
Baiap2l2	A	G	15: 79,143,930 (GRCm39)	I388T	probably benign	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Chrnd	T	A	1: 87,118,812 (GRCm39)	D56E	probably benign	Het
Col28a1	A	T	6: 8,162,247 (GRCm39)		probably null	Het
Col4a1	G	T	8: 11,270,007 (GRCm39)	P899Q	probably damaging	Het
Cts3	C	A	13: 61,714,655 (GRCm39)	A217S	probably damaging	Het
Dab2	A	G	15: 6,465,941 (GRCm39)	N495S	possibly damaging	Het
Dnah2	T	A	11: 69,349,368 (GRCm39)	I2423F	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock6	T	C	9: 21,733,041 (GRCm39)	H1053R	probably benign	Het
Eif1ad14	G	A	12: 87,886,521 (GRCm39)	A36V	probably damaging	Het
Fam184a	G	A	10: 53,574,869 (GRCm39)	L191F	probably damaging	Het
Fbxl9	T	C	8: 106,049,925 (GRCm39)	Y33C	probably damaging	Het
Fip1l1	C	T	5: 74,752,608 (GRCm39)	R472W	probably damaging	Het
Gbp2	T	C	3: 142,338,018 (GRCm39)	F378S	probably damaging	Het
Ggt1	A	T	10: 75,420,799 (GRCm39)	E388V	probably damaging	Het
Gm14496	A	G	2: 181,638,050 (GRCm39)	T375A	probably benign	Het
Gm43302	A	G	5: 105,436,894 (GRCm39)	S71P	probably benign	Het
Gnrhr	G	T	5: 86,330,216 (GRCm39)	T268K	probably damaging	Het
Htt	T	C	5: 34,962,020 (GRCm39)	V335A	probably benign	Het
Klhl20	A	T	1: 160,933,037 (GRCm39)	L257H	probably damaging	Het
Med27	C	A	2: 29,414,376 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,369,323 (GRCm39)	C2433S	possibly damaging	Het
Nasp	A	G	4: 116,461,086 (GRCm39)		probably null	Het
Nipal2	A	C	15: 34,600,172 (GRCm39)	V215G	probably damaging	Het
Or10al5	A	T	17: 38,063,038 (GRCm39)	I98F	probably damaging	Het
Or9i1b	C	T	19: 13,897,104 (GRCm39)	T240I	probably damaging	Het
Oxct2b	G	A	4: 123,011,244 (GRCm39)	R388H	probably damaging	Het
Pbrm1	A	G	14: 30,774,240 (GRCm39)	I469V	possibly damaging	Het
Phyhip	A	G	14: 70,704,294 (GRCm39)	H171R	possibly damaging	Het
Pigs	C	T	11: 78,219,326 (GRCm39)	T9M	probably benign	Het
Plek	T	C	11: 16,935,539 (GRCm39)	D256G	probably damaging	Het
Prss50	T	C	9: 110,693,371 (GRCm39)	V369A	probably benign	Het
Psmc5	A	G	11: 106,152,088 (GRCm39)	K82E	possibly damaging	Het
Qrsl1	A	T	10: 43,758,189 (GRCm39)	F301L	probably benign	Het
Rasal1	T	C	5: 120,797,673 (GRCm39)	L135P	probably damaging	Het
Rbm47	A	G	5: 66,184,159 (GRCm39)	V148A	probably damaging	Het
Selplg	G	T	5: 113,957,162 (GRCm39)	D381E	probably benign	Het
Sh3rf2	C	A	18: 42,289,200 (GRCm39)	Q674K	probably damaging	Het
Sned1	A	G	1: 93,210,659 (GRCm39)	T987A	probably benign	Het
Sntb1	A	G	15: 55,539,698 (GRCm39)		probably null	Het
Synj2	A	T	17: 6,036,327 (GRCm39)	I14F	probably damaging	Het
Taf2	A	T	15: 54,926,440 (GRCm39)	M170K	possibly damaging	Het
Tg	A	G	15: 66,607,096 (GRCm39)	E211G	possibly damaging	Het
Thnsl1	G	T	2: 21,217,016 (GRCm39)	E257*	probably null	Het
Tlr4	A	G	4: 66,758,070 (GRCm39)	R288G	possibly damaging	Het
Trbc1	T	C	6: 41,515,385 (GRCm39)		probably benign	Het
Trim37	G	A	11: 87,107,374 (GRCm39)		probably null	Het
Txnrd3	T	C	6: 89,640,176 (GRCm39)		probably null	Het
Tyk2	C	A	9: 21,021,800 (GRCm39)	Q875H	probably damaging	Het
Vmn2r55	A	G	7: 12,385,698 (GRCm39)	Y761H	probably damaging	Het
Zswim5	T	C	4: 116,836,876 (GRCm39)	L720P	probably damaging	Het

Other mutations in Scyl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02437:Scyl1	APN	19	5,816,224 (GRCm39)	missense	probably damaging	1.00
IGL02488:Scyl1	APN	19	5,820,341 (GRCm39)	nonsense	probably null
IGL02816:Scyl1	APN	19	5,820,410 (GRCm39)	missense	probably damaging	0.99
spartacus	UTSW	19	5,810,854 (GRCm39)	missense	probably damaging	1.00
R1957:Scyl1	UTSW	19	5,810,132 (GRCm39)	missense	probably benign	0.00
R2267:Scyl1	UTSW	19	5,811,749 (GRCm39)	missense	possibly damaging	0.78
R4598:Scyl1	UTSW	19	5,820,481 (GRCm39)	missense	probably damaging	1.00
R5034:Scyl1	UTSW	19	5,810,022 (GRCm39)	missense	probably benign	0.01
R5203:Scyl1	UTSW	19	5,821,395 (GRCm39)	start gained	probably benign
R6194:Scyl1	UTSW	19	5,820,334 (GRCm39)	missense	possibly damaging	0.96
R6360:Scyl1	UTSW	19	5,810,599 (GRCm39)	missense	probably damaging	1.00
R6625:Scyl1	UTSW	19	5,810,854 (GRCm39)	missense	probably damaging	1.00
R7214:Scyl1	UTSW	19	5,810,057 (GRCm39)	missense	probably benign
R8046:Scyl1	UTSW	19	5,810,620 (GRCm39)	missense	possibly damaging	0.70
R8068:Scyl1	UTSW	19	5,810,853 (GRCm39)	missense	probably damaging	1.00
R9377:Scyl1	UTSW	19	5,809,023 (GRCm39)	missense	probably benign	0.00
Z1177:Scyl1	UTSW	19	5,808,879 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCACACGTATGAACCCTCTC -3'
(R):5'- CAACTGTCAAATGCGCTTCCC -3'

Sequencing Primer
(F):5'- CTCATACCTTTAGGCTTAAACCAAGG -3'
(R):5'- AAATGCGCTTCCCTCCTGAG -3'

Posted On

2017-10-10