Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01368:Sclt1'

76018

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sclt1

Ensembl Gene

ENSMUSG00000059834

Gene Name

sodium channel and clathrin linker 1

Synonyms

2610207F23Rik, 4931421F20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

41626720-41742514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41711175 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 153 (T153A)

Ref Sequence

ENSEMBL: ENSMUSP00000123392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026866] [ENSMUST00000146125] [ENSMUST00000148769]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026866
AA Change: T153A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
AA Change: T153A

Domain	Start	End	E-Value	Type
coiled coil region	59	105	N/A	INTRINSIC
internal_repeat_1	166	179	6.29e-5	PROSPERO
coiled coil region	372	543	N/A	INTRINSIC
internal_repeat_1	555	568	6.29e-5	PROSPERO
coiled coil region	571	675	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146125

Predicted Effect

probably damaging
Transcript: ENSMUST00000148769
AA Change: T153A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834
AA Change: T153A

Domain	Start	End	E-Value	Type
coiled coil region	59	105	N/A	INTRINSIC
coiled coil region	178	333	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156279

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous knockout causes polycystic kidney disease, impaired postnatal weight gain and premature death (before 1 month of age). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,051,334	D93E	probably damaging	Het
Adam22	T	C	5: 8,127,411	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,534,229		probably benign	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,957,447	W133R	probably damaging	Het
Ckm	C	T	7: 19,416,787	Q184*	probably null	Het
Clk4	T	A	11: 51,281,172	Y246*	probably null	Het
Cyp3a57	T	C	5: 145,369,068	S121P	probably damaging	Het
Gm5039	C	T	12: 88,321,088	D132N	unknown	Het
Gm5771	A	G	6: 41,396,686	D161G	possibly damaging	Het
Gm8011	T	C	14: 42,465,874		probably benign	Het
Gpr153	T	C	4: 152,282,994	F434S	probably benign	Het
Gpr158	G	T	2: 21,827,098	W1003L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,736,390	E34G	probably damaging	Het
Igkv16-104	G	T	6: 68,425,610	R2S	possibly damaging	Het
Map3k3	T	C	11: 106,150,389	F395L	probably benign	Het
Myof	T	A	19: 37,936,457	T1161S	probably damaging	Het
Nlrp9a	T	C	7: 26,557,874	S217P	probably damaging	Het
Nol9	T	A	4: 152,058,391	N687K	probably benign	Het
Olfr287	T	C	15: 98,207,500	I295V	probably damaging	Het
Olfr697	T	C	7: 106,741,622	E104G	probably benign	Het
Olfr748	T	C	14: 50,710,993	V221A	possibly damaging	Het
Olfr952	A	T	9: 39,426,180	V297D	probably damaging	Het
Rrh	T	C	3: 129,808,969	D229G	probably benign	Het
Slc41a1	G	A	1: 131,839,124	V127I	probably damaging	Het
Smarca2	C	T	19: 26,774,294	S214L	possibly damaging	Het
Tmem63a	T	C	1: 180,970,232	V616A	possibly damaging	Het
Ubr1	A	G	2: 120,941,131		probably benign	Het
Vmn1r228	A	G	17: 20,776,512	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,941,506		probably null	Het

Other mutations in Sclt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Sclt1	APN	3	41741991	unclassified	probably benign
IGL01106:Sclt1	APN	3	41675319	splice site	probably benign
IGL02001:Sclt1	APN	3	41681721	missense	possibly damaging	0.63
IGL02897:Sclt1	APN	3	41675387	missense	probably benign	0.01
IGL03066:Sclt1	APN	3	41717843	missense	probably benign	0.00
R0038:Sclt1	UTSW	3	41629508	splice site	probably benign
R0038:Sclt1	UTSW	3	41629508	splice site	probably benign
R0172:Sclt1	UTSW	3	41717787	missense	possibly damaging	0.84
R0359:Sclt1	UTSW	3	41661570	critical splice donor site	probably null
R1281:Sclt1	UTSW	3	41647620	missense	probably benign	0.01
R1831:Sclt1	UTSW	3	41727111	missense	probably damaging	0.99
R1832:Sclt1	UTSW	3	41727111	missense	probably damaging	0.99
R1833:Sclt1	UTSW	3	41727111	missense	probably damaging	0.99
R2027:Sclt1	UTSW	3	41730888	missense	probably benign	0.00
R4578:Sclt1	UTSW	3	41671465	nonsense	probably null
R5502:Sclt1	UTSW	3	41657275	missense	probably benign	0.28
R5558:Sclt1	UTSW	3	41661590	missense	probably benign	0.14
R5601:Sclt1	UTSW	3	41730919	missense	probably benign
R5710:Sclt1	UTSW	3	41663963	nonsense	probably null
R6041:Sclt1	UTSW	3	41627177	missense	probably damaging	0.99
R6274:Sclt1	UTSW	3	41629516	critical splice donor site	probably null
R6765:Sclt1	UTSW	3	41730902	missense	unknown
R7171:Sclt1	UTSW	3	41717760	missense	probably benign	0.00
R7489:Sclt1	UTSW	3	41629597	missense	probably damaging	0.99
R7988:Sclt1	UTSW	3	41663454	makesense	probably null
R8040:Sclt1	UTSW	3	41657376	missense	probably damaging	1.00
R8158:Sclt1	UTSW	3	41671482	missense	probably benign	0.36
R8383:Sclt1	UTSW	3	41742015	missense	probably benign	0.13
R8956:Sclt1	UTSW	3	41681774	missense	probably benign	0.01

Posted On

2013-10-07