Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Scyl2'

418131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scyl2

Ensembl Gene

ENSMUSG00000069539

Gene Name

SCY1-like 2 (S. cerevisiae)

Synonyms

CVAK104, D10Ertd802e

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

89638721-89686285 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89652968 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 495 (A495D)

Ref Sequence

ENSEMBL: ENSMUSP00000133992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092227] [ENSMUST00000174252] [ENSMUST00000174492]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092227
AA Change: A495D

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089874
Gene: ENSMUSG00000069539
AA Change: A495D

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	32	324	9.7e-15	PFAM
Pfam:Pkinase	32	327	4.6e-24	PFAM
low complexity region	356	369	N/A	INTRINSIC
low complexity region	679	704	N/A	INTRINSIC
low complexity region	896	921	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173526

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174252
AA Change: A495D

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133992
Gene: ENSMUSG00000069539
AA Change: A495D

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	32	324	6.4e-15	PFAM
Pfam:Pkinase	32	327	2.9e-26	PFAM
low complexity region	356	369	N/A	INTRINSIC
low complexity region	680	705	N/A	INTRINSIC
low complexity region	897	922	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174492
AA Change: A220D

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134366
Gene: ENSMUSG00000069539
AA Change: A220D

Domain	Start	End	E-Value	Type
SCOP:d1b3ua_	66	259	1e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, absent gastric milk in neonates, postnatal growth retardation, sensory-motor deficits and limb grapsing. Mice homozygous for a conditional allele exhibit similar phenotypes with near complete loss of CA3 neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Scyl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Scyl2	APN	10	89657809	critical splice donor site	probably null
IGL01141:Scyl2	APN	10	89640635	missense	probably benign
IGL01597:Scyl2	APN	10	89652987	missense	probably damaging	0.99
IGL01713:Scyl2	APN	10	89654225	missense	probably damaging	1.00
IGL02349:Scyl2	APN	10	89657938	splice site	probably benign
IGL02466:Scyl2	APN	10	89653009	nonsense	probably null
IGL02511:Scyl2	APN	10	89640819	missense	probably benign
IGL02949:Scyl2	APN	10	89660301	missense	possibly damaging	0.82
IGL03117:Scyl2	APN	10	89657867	missense	possibly damaging	0.95
IGL03228:Scyl2	APN	10	89650080	missense	probably damaging	1.00
R0019:Scyl2	UTSW	10	89659321	missense	probably benign	0.44
R0827:Scyl2	UTSW	10	89657865	missense	possibly damaging	0.91
R1394:Scyl2	UTSW	10	89640965	missense	possibly damaging	0.59
R1460:Scyl2	UTSW	10	89657889	missense	possibly damaging	0.90
R1572:Scyl2	UTSW	10	89650956	missense	probably damaging	1.00
R1624:Scyl2	UTSW	10	89640736	missense	probably benign	0.19
R1909:Scyl2	UTSW	10	89640905	missense	probably benign	0.01
R3846:Scyl2	UTSW	10	89640541	missense	probably damaging	1.00
R4041:Scyl2	UTSW	10	89650052	missense	probably damaging	1.00
R4077:Scyl2	UTSW	10	89640596	missense	probably benign	0.01
R4079:Scyl2	UTSW	10	89640596	missense	probably benign	0.01
R4765:Scyl2	UTSW	10	89659298	missense	probably damaging	0.97
R4855:Scyl2	UTSW	10	89640463	utr 3 prime	probably benign
R5308:Scyl2	UTSW	10	89642007	missense	probably benign	0.01
R5894:Scyl2	UTSW	10	89640819	missense	probably benign
R5901:Scyl2	UTSW	10	89660262	missense	probably benign	0.03
R6048:Scyl2	UTSW	10	89645486	missense	probably benign	0.33
R6249:Scyl2	UTSW	10	89657857	missense	possibly damaging	0.93
R6658:Scyl2	UTSW	10	89640973	missense	probably benign	0.01
R6827:Scyl2	UTSW	10	89669804	critical splice acceptor site	probably null
R6909:Scyl2	UTSW	10	89645742	missense	probably benign	0.28
R7027:Scyl2	UTSW	10	89645461	critical splice donor site	probably null
R7095:Scyl2	UTSW	10	89669687	missense	probably damaging	1.00
R8062:Scyl2	UTSW	10	89654160	missense	probably damaging	0.97
R8095:Scyl2	UTSW	10	89641103	missense	probably damaging	1.00
R8197:Scyl2	UTSW	10	89662366	missense	probably benign	0.33
R8232:Scyl2	UTSW	10	89662447	missense	probably damaging	1.00
R8241:Scyl2	UTSW	10	89654109	missense	possibly damaging	0.80
R8263:Scyl2	UTSW	10	89640663	missense	possibly damaging	0.50
Z1177:Scyl2	UTSW	10	89669715	frame shift	probably null

Posted On

2016-08-02