Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Sclt1'

29974

Institutional Source

Beutler Lab

Gene Symbol

Sclt1

Ensembl Gene

ENSMUSG00000059834

Gene Name

sodium channel and clathrin linker 1

Synonyms

2610207F23Rik, 4931421F20Rik

MMRRC Submission

038565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R0359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41581155-41696949 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 41616005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026866 (fasta)

Gene Model

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

AlphaFold

G5E861

Predicted Effect

probably null
Transcript: ENSMUST00000026866

SMART Domains

Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834

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 null
Transcript: ENSMUST00000026866

SMART Domains

Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834

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

noncoding transcript
Transcript: ENSMUST00000140373

Predicted Effect

probably benign
Transcript: ENSMUST00000146125

Predicted Effect

probably benign
Transcript: ENSMUST00000148769

SMART Domains

Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154773

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
2310003L06Rik	A	T	5: 88,112,455 (GRCm39)		probably benign	Het
Abcb5	A	G	12: 118,904,067 (GRCm39)	S213P	probably damaging	Het
Agpat1	A	G	17: 34,829,551 (GRCm39)	I42V	probably benign	Het
Apoh	A	T	11: 108,288,199 (GRCm39)	I106F	probably damaging	Het
BB014433	G	T	8: 15,092,540 (GRCm39)	C104*	probably null	Het
Bsn	C	T	9: 107,989,045 (GRCm39)	G2236S	possibly damaging	Het
Casp9	A	G	4: 141,521,221 (GRCm39)	E19G	probably damaging	Het
Ces1g	T	C	8: 94,055,163 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,959,760 (GRCm39)	M797L	probably benign	Het
Col14a1	A	G	15: 55,271,264 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,232,964 (GRCm39)		probably null	Het
Col6a4	T	A	9: 105,874,345 (GRCm39)	H2214L	probably benign	Het
Ctu2	T	G	8: 123,204,932 (GRCm39)	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,333,619 (GRCm39)	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Diaph3	T	C	14: 87,206,938 (GRCm39)	R501G	probably benign	Het
Dip2b	A	G	15: 100,109,874 (GRCm39)	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,420,357 (GRCm39)	T119M	probably benign	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Farp1	A	T	14: 121,492,808 (GRCm39)		probably benign	Het
Fcsk	T	C	8: 111,619,891 (GRCm39)		probably null	Het
Foxf1	T	C	8: 121,811,742 (GRCm39)	V202A	possibly damaging	Het
Fras1	G	A	5: 96,910,449 (GRCm39)	V3293I	probably damaging	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Gclm	T	C	3: 122,049,269 (GRCm39)		probably benign	Het
Gemin4	G	A	11: 76,102,988 (GRCm39)	T591M	probably benign	Het
Glrx3	T	C	7: 137,055,214 (GRCm39)	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,437 (GRCm39)		probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Kpna2	A	G	11: 106,882,148 (GRCm39)	L226S	probably damaging	Het
Myom3	G	A	4: 135,505,454 (GRCm39)	V448M	probably damaging	Het
Nalcn	A	G	14: 123,536,580 (GRCm39)	S1224P	probably damaging	Het
Or52n2	A	T	7: 104,542,521 (GRCm39)	F105I	probably damaging	Het
Or56b1b	C	T	7: 108,164,721 (GRCm39)	D94N	probably benign	Het
Or7a38	A	G	10: 78,753,177 (GRCm39)	T168A	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,679 (GRCm39)		probably benign	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Ppp1r1a	T	A	15: 103,441,915 (GRCm39)	D51V	probably damaging	Het
Ptprz1	T	A	6: 22,973,175 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,911,704 (GRCm39)	V61D	probably damaging	Het
Reln	G	A	5: 22,253,798 (GRCm39)	L605F	probably damaging	Het
Riok3	T	C	18: 12,282,006 (GRCm39)	I325T	probably damaging	Het
Slc25a39	A	G	11: 102,297,395 (GRCm39)	V24A	possibly damaging	Het
Slc9a3	T	G	13: 74,305,726 (GRCm39)	S248A	probably damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Spen	T	C	4: 141,244,181 (GRCm39)	S285G	unknown	Het
Stxbp5l	A	G	16: 37,036,440 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,352,030 (GRCm39)	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,581,842 (GRCm39)	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,652,062 (GRCm39)		noncoding transcript	Het
Triml1	A	T	8: 43,583,542 (GRCm39)	V353E	probably damaging	Het
Ttn	G	A	2: 76,549,401 (GRCm39)	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,398,443 (GRCm39)	Q331R	probably benign	Het
Urb1	A	G	16: 90,588,048 (GRCm39)	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,261,201 (GRCm39)	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 11,993,877 (GRCm39)	T244S	probably damaging	Het
Vps13a	A	G	19: 16,618,941 (GRCm39)	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,657,692 (GRCm39)	M166V	probably damaging	Het
Zfp296	T	C	7: 19,313,864 (GRCm39)	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het

Other mutations in Sclt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Sclt1	APN	3	41,696,426 (GRCm39)	unclassified	probably benign
IGL01106:Sclt1	APN	3	41,629,754 (GRCm39)	splice site	probably benign
IGL01368:Sclt1	APN	3	41,665,610 (GRCm39)	missense	probably damaging	0.96
IGL02001:Sclt1	APN	3	41,636,156 (GRCm39)	missense	possibly damaging	0.63
IGL02897:Sclt1	APN	3	41,629,822 (GRCm39)	missense	probably benign	0.01
IGL03066:Sclt1	APN	3	41,672,278 (GRCm39)	missense	probably benign	0.00
R0038:Sclt1	UTSW	3	41,583,943 (GRCm39)	splice site	probably benign
R0038:Sclt1	UTSW	3	41,583,943 (GRCm39)	splice site	probably benign
R0172:Sclt1	UTSW	3	41,672,222 (GRCm39)	missense	possibly damaging	0.84
R1281:Sclt1	UTSW	3	41,602,055 (GRCm39)	missense	probably benign	0.01
R1831:Sclt1	UTSW	3	41,681,546 (GRCm39)	missense	probably damaging	0.99
R1832:Sclt1	UTSW	3	41,681,546 (GRCm39)	missense	probably damaging	0.99
R1833:Sclt1	UTSW	3	41,681,546 (GRCm39)	missense	probably damaging	0.99
R2027:Sclt1	UTSW	3	41,685,323 (GRCm39)	missense	probably benign	0.00
R4578:Sclt1	UTSW	3	41,625,900 (GRCm39)	nonsense	probably null
R5502:Sclt1	UTSW	3	41,611,710 (GRCm39)	missense	probably benign	0.28
R5558:Sclt1	UTSW	3	41,616,025 (GRCm39)	missense	probably benign	0.14
R5601:Sclt1	UTSW	3	41,685,354 (GRCm39)	missense	probably benign
R5710:Sclt1	UTSW	3	41,618,398 (GRCm39)	nonsense	probably null
R6041:Sclt1	UTSW	3	41,581,612 (GRCm39)	missense	probably damaging	0.99
R6274:Sclt1	UTSW	3	41,583,951 (GRCm39)	critical splice donor site	probably null
R6765:Sclt1	UTSW	3	41,685,337 (GRCm39)	missense	unknown
R7171:Sclt1	UTSW	3	41,672,195 (GRCm39)	missense	probably benign	0.00
R7489:Sclt1	UTSW	3	41,584,032 (GRCm39)	missense	probably damaging	0.99
R7988:Sclt1	UTSW	3	41,617,889 (GRCm39)	makesense	probably null
R8040:Sclt1	UTSW	3	41,611,811 (GRCm39)	missense	probably damaging	1.00
R8158:Sclt1	UTSW	3	41,625,917 (GRCm39)	missense	probably benign	0.36
R8383:Sclt1	UTSW	3	41,696,450 (GRCm39)	missense	probably benign	0.13
R8956:Sclt1	UTSW	3	41,636,209 (GRCm39)	missense	probably benign	0.01
R8971:Sclt1	UTSW	3	41,681,541 (GRCm39)	missense	probably benign	0.01
R9227:Sclt1	UTSW	3	41,665,631 (GRCm39)	missense	probably benign	0.01
R9230:Sclt1	UTSW	3	41,665,631 (GRCm39)	missense	probably benign	0.01
R9463:Sclt1	UTSW	3	41,601,931 (GRCm39)	missense	probably damaging	1.00
R9729:Sclt1	UTSW	3	41,629,837 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCGTGTGTTGGAAACAGAATTCCAAG -3'
(R):5'- TCAGATTTACCGTGAAGGCAAACAGG -3'

Sequencing Primer
(F):5'- TTATGAGTACGAAAACGCTCTCAC -3'
(R):5'- CGTGAAGGCAAACAGGATGAAAG -3'

Posted On

2013-04-24