Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Sclt1'

656386

Institutional Source

Beutler Lab

Gene Symbol

Sclt1

Ensembl Gene

ENSMUSG00000059834

Gene Name

sodium channel and clathrin linker 1

Synonyms

2610207F23Rik, 4931421F20Rik

MMRRC Submission

046029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41581155-41696949 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 41617889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Leucine at position 29 (*29L)

Gene Model

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

AlphaFold

G5E861

Predicted Effect

probably benign
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 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 null
Transcript: ENSMUST00000154773
AA Change: *29L

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,324,635 (GRCm39)	T56M	probably damaging	Het
Adamtsl5	C	T	10: 80,181,372 (GRCm39)	S36N	probably benign	Het
Adgrf5	A	T	17: 43,750,704 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,354,210 (GRCm39)	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,063,865 (GRCm39)	D108G	possibly damaging	Het
Aopep	A	G	13: 63,208,954 (GRCm39)	D357G	probably benign	Het
Arhgef3	A	T	14: 27,123,743 (GRCm39)	D468V	probably benign	Het
Aspn	T	C	13: 49,705,353 (GRCm39)	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,792,485 (GRCm39)	T548A	possibly damaging	Het
Birc6	G	A	17: 74,906,368 (GRCm39)		probably null	Het
Btnl2	A	T	17: 34,577,249 (GRCm39)	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,865,282 (GRCm39)	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,463,024 (GRCm39)		probably null	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap45	A	G	1: 172,357,501 (GRCm39)	D85G	probably damaging	Het
Cfap54	T	A	10: 92,737,941 (GRCm39)	D2319V	unknown	Het
Cma1	T	C	14: 56,181,989 (GRCm39)	M14V	possibly damaging	Het
Cmtm1	T	C	8: 105,036,774 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,249,559 (GRCm39)	H1738R	unknown	Het
Colq	T	A	14: 31,275,794 (GRCm39)	D41V	probably damaging	Het
Cubn	T	C	2: 13,337,166 (GRCm39)	T2437A	probably benign	Het
Dnah14	A	G	1: 181,611,139 (GRCm39)	D3755G	probably damaging	Het
Eprs1	A	G	1: 185,150,545 (GRCm39)	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fbf1	T	C	11: 116,043,594 (GRCm39)	D405G	probably benign	Het
Fen1	C	T	19: 10,177,674 (GRCm39)	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,834,271 (GRCm39)	M198K	possibly damaging	Het
Hook3	A	T	8: 26,563,675 (GRCm39)	S190T	probably benign	Het
Htra4	A	C	8: 25,520,526 (GRCm39)		probably null	Het
Ighv1-15	T	C	12: 114,621,116 (GRCm39)	I70V	probably benign	Het
Ikzf4	T	A	10: 128,470,324 (GRCm39)	N452Y	probably damaging	Het
Insyn2a	T	G	7: 134,519,427 (GRCm39)	K368Q	probably damaging	Het
Iqcf5	T	A	9: 106,393,020 (GRCm39)	N92K	possibly damaging	Het
Itk	A	G	11: 46,246,661 (GRCm39)	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,690 (GRCm39)	S282P	probably benign	Het
Klhl18	T	A	9: 110,305,577 (GRCm39)	E29V	possibly damaging	Het
Ky	T	C	9: 102,402,614 (GRCm39)	S140P	probably damaging	Het
Lmntd2	T	C	7: 140,793,550 (GRCm39)	E112G	unknown	Het
Lrrc36	C	A	8: 106,178,718 (GRCm39)	D304E	possibly damaging	Het
Macf1	A	T	4: 123,400,273 (GRCm39)	F674Y	probably damaging	Het
Notch1	C	T	2: 26,361,013 (GRCm39)	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,107,941 (GRCm39)	N312K	possibly damaging	Het
Otogl	C	T	10: 107,731,637 (GRCm39)	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,645,934 (GRCm39)	T171P	probably benign	Het
Ppef2	A	T	5: 92,386,841 (GRCm39)	F365L	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Ryr1	G	A	7: 28,795,596 (GRCm39)	T1105I	probably benign	Het
Scn11a	T	C	9: 119,594,503 (GRCm39)	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,262 (GRCm39)	Y288F	probably benign	Het
Setd1a	T	A	7: 127,385,366 (GRCm39)	M691K	probably benign	Het
Sftpc	T	C	14: 70,760,059 (GRCm39)	E66G	probably damaging	Het
Spata31h1	T	C	10: 82,131,934 (GRCm39)	I359V	probably benign	Het
Thnsl2	T	C	6: 71,118,303 (GRCm39)	T42A	probably benign	Het
Tram1	T	C	1: 13,640,199 (GRCm39)	D285G	probably benign	Het
Ttn	G	A	2: 76,675,374 (GRCm39)	P11137L	unknown	Het
Ttn	C	A	2: 76,727,103 (GRCm39)	V5821F	unknown	Het
Ttn	A	T	2: 76,566,584 (GRCm39)	I28103K	probably damaging	Het
Usp38	T	A	8: 81,740,945 (GRCm39)	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,815,753 (GRCm39)	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,577,525 (GRCm39)	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,712,970 (GRCm39)	S103T	possibly 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
R0359:Sclt1	UTSW	3	41,616,005 (GRCm39)	critical splice donor site	probably null
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
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'- CAGCACTTTAAACATGGTAAGTGC -3'
(R):5'- TGGTGGTAATAGGTATAGACAACC -3'

Sequencing Primer
(F):5'- AACTGAACACAGGTCTCTGG -3'
(R):5'- GCATAGAGACCAGAGGTTG -3'

Posted On

2020-11-02