Mutagenetix > Incidental Mutation

Incidental Mutation 'R5203:Scyl1'

398301

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

042778-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R5203 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

5808450-5821461 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 5821395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025890 (fasta)

Gene Model

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

AlphaFold

Q9EQC5

Predicted Effect

probably benign
Transcript: ENSMUST00000025890

SMART Domains

Protein: ENSMUSP00000025890
Gene: ENSMUSG00000024941

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	G	16: 4,653,462 (GRCm39)	S4A	unknown	Het
Adgrv1	A	T	13: 81,659,024 (GRCm39)	N2053K	possibly damaging	Het
Akr1c13	C	T	13: 4,247,896 (GRCm39)	R223*	probably null	Het
Arhgef11	A	G	3: 87,642,664 (GRCm39)	Y1370C	probably damaging	Het
Arid1a	T	C	4: 133,409,314 (GRCm39)	E1731G	unknown	Het
Cyp2c54	A	T	19: 40,060,918 (GRCm39)	V75E	probably damaging	Het
Fa2h	A	G	8: 112,075,996 (GRCm39)	M209T	probably benign	Het
Fam171a1	T	C	2: 3,224,582 (GRCm39)	I311T	probably damaging	Het
Fat3	C	A	9: 16,289,438 (GRCm39)	L28F	possibly damaging	Het
Fntb	C	A	12: 76,884,346 (GRCm39)	P22Q	probably benign	Het
Gmeb1	T	C	4: 131,959,320 (GRCm39)		probably null	Het
Gpr22	A	G	12: 31,759,787 (GRCm39)	S112P	probably damaging	Het
Htr7	A	G	19: 35,941,792 (GRCm39)	S464P	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Krt79	A	G	15: 101,838,175 (GRCm39)	S527P	unknown	Het
Lnpep	A	T	17: 17,757,325 (GRCm39)	D858E	probably damaging	Het
Ly9	C	A	1: 171,427,347 (GRCm39)	V403F	probably damaging	Het
Mindy4	A	G	6: 55,232,646 (GRCm39)	Q363R	probably benign	Het
Mtmr10	G	A	7: 63,967,909 (GRCm39)	V273I	probably benign	Het
Mup2	T	A	4: 60,139,728 (GRCm39)	E20V	probably damaging	Het
Myo16	A	G	8: 10,410,995 (GRCm39)	N151S	probably damaging	Het
Nod2	A	C	8: 89,391,079 (GRCm39)	D462A	probably damaging	Het
Nt5c2	A	G	19: 46,878,247 (GRCm39)	Y497H	probably damaging	Het
Or12d2	A	T	17: 37,625,092 (GRCm39)	L61Q	probably damaging	Het
Or4k44	A	C	2: 111,367,981 (GRCm39)	Y218D	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhac1	A	T	18: 37,224,243 (GRCm39)	D352V	probably damaging	Het
Psap	A	G	10: 60,130,755 (GRCm39)	D195G	probably damaging	Het
Sh3bgr	A	G	16: 96,025,720 (GRCm39)		probably benign	Het
Slc2a12	G	T	10: 22,521,213 (GRCm39)		probably null	Het
Slc2a12	G	C	10: 22,568,117 (GRCm39)	V515L	probably benign	Het
Ttc17	T	C	2: 94,209,061 (GRCm39)	Y131C	probably damaging	Het
Ttc27	A	G	17: 75,084,649 (GRCm39)	D419G	probably damaging	Het
Ubxn8	T	C	8: 34,123,639 (GRCm39)	E100G	probably damaging	Het
Zpbp	T	C	11: 11,358,451 (GRCm39)	E272G	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
R6159:Scyl1	UTSW	19	5,814,785 (GRCm39)	missense	probably benign	0.03
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

Posted On

2016-07-06