Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Sclt1'

633349

Institutional Source

Beutler Lab

Gene Symbol

Sclt1

Ensembl Gene

ENSMUSG00000059834

Gene Name

sodium channel and clathrin linker 1

Synonyms

2610207F23Rik, 4931421F20Rik

MMRRC Submission

067584-MU

Accession Numbers

Essential gene?

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

Stock #

R8158 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41581155-41696949 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41625917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 350 (I350T)

Ref Sequence

ENSEMBL: ENSMUSP00000026866 (fasta)

Gene Model

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

AlphaFold

G5E861

Predicted Effect

probably benign
Transcript: ENSMUST00000026866
AA Change: I350T

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
AA Change: I350T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,469,639 (GRCm39)	S968T	probably benign	Het
Adcy8	T	C	15: 64,655,655 (GRCm39)	D608G	probably benign	Het
Adgb	C	T	10: 10,254,478 (GRCm39)	V1162M	probably benign	Het
Agrn	A	G	4: 156,258,346 (GRCm39)	V1040A	probably benign	Het
Amer3	A	T	1: 34,626,741 (GRCm39)	T327S	possibly damaging	Het
Apaf1	C	T	10: 90,895,520 (GRCm39)	C426Y	probably benign	Het
Bsn	T	C	9: 107,987,232 (GRCm39)	D2840G	unknown	Het
Camsap1	A	T	2: 25,834,440 (GRCm39)	C406*	probably null	Het
Cbr2	A	T	11: 120,621,123 (GRCm39)	M158K	probably damaging	Het
Cgrrf1	T	C	14: 47,091,192 (GRCm39)	S239P	probably benign	Het
Clnk	C	A	5: 38,952,254 (GRCm39)		probably null	Het
Csad	T	C	15: 102,086,197 (GRCm39)	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,291,600 (GRCm39)	N246Y	probably damaging	Het
Dok6	T	C	18: 89,492,071 (GRCm39)	I169V	probably benign	Het
H2bc14	T	C	13: 21,906,631 (GRCm39)	Y122H	probably benign	Het
Il1f10	T	G	2: 24,181,267 (GRCm39)	I11R	possibly damaging	Het
Irs1	C	T	1: 82,267,254 (GRCm39)	V321M	probably damaging	Het
Itga9	T	C	9: 118,706,211 (GRCm39)	F938L	probably damaging	Het
Kif7	T	C	7: 79,354,442 (GRCm39)	D781G	probably damaging	Het
Klhl41	A	T	2: 69,501,505 (GRCm39)	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,798,901 (GRCm39)	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,824,824 (GRCm39)	D234E	probably benign	Het
Med6	T	C	12: 81,620,677 (GRCm39)	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,798,064 (GRCm39)	T97I	probably benign	Het
Mrgpra1	A	T	7: 46,985,204 (GRCm39)	C158*	probably null	Het
Nr2e1	T	C	10: 42,458,881 (GRCm39)	T8A	probably benign	Het
Oas2	T	C	5: 120,887,838 (GRCm39)	M1V	probably null	Het
Or13a27	T	C	7: 139,925,162 (GRCm39)	I247V	probably benign	Het
Or14a260	T	A	7: 85,984,885 (GRCm39)	I240F	probably benign	Het
Or1e33	T	A	11: 73,738,697 (GRCm39)	M85L	probably benign	Het
Or8k17	T	C	2: 86,066,504 (GRCm39)	Y218C	probably damaging	Het
Or8w1	T	A	2: 87,465,233 (GRCm39)	N286I	probably damaging	Het
Otof	C	T	5: 30,537,538 (GRCm39)	G1257D	probably benign	Het
Phf2	T	C	13: 48,971,236 (GRCm39)	T479A	probably benign	Het
Pik3c2a	T	C	7: 115,942,232 (GRCm39)	N1516S	probably benign	Het
Qrich1	C	A	9: 108,433,236 (GRCm39)	T622K	probably damaging	Het
Rasip1	A	G	7: 45,281,943 (GRCm39)	K482R	probably damaging	Het
Rgl2	T	C	17: 34,155,918 (GRCm39)	F698L	probably benign	Het
Scarb1	T	C	5: 125,380,201 (GRCm39)	D124G	probably benign	Het
Sec23ip	T	G	7: 128,369,364 (GRCm39)	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,917,354 (GRCm39)	T105K	probably benign	Het
Sin3a	A	G	9: 57,020,828 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,218,182 (GRCm39)	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,303,241 (GRCm39)	L178P	probably damaging	Het
Smarca2	A	C	19: 26,659,448 (GRCm39)	I913L	probably benign	Het
Spaca7b	T	A	8: 11,715,056 (GRCm39)	D46V	probably damaging	Het
Tcea3	G	A	4: 136,001,027 (GRCm39)		probably null	Het
Tektl1	G	C	10: 78,584,509 (GRCm39)	Q338E	probably benign	Het
Tmcc1	T	A	6: 116,020,435 (GRCm39)	H339L		Het
Trpm2	G	T	10: 77,783,731 (GRCm39)	H247Q	probably damaging	Het
Tyr	T	A	7: 87,121,724 (GRCm39)	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,349,888 (GRCm39)	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,213,636 (GRCm39)	N74T	probably benign	Het
Zcchc4	T	C	5: 52,973,260 (GRCm39)	Y375H	probably damaging	Het
Zfhx3	T	A	8: 109,675,353 (GRCm39)	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,464,010 (GRCm39)	Y1414*	probably null	Het
Zfp282	A	T	6: 47,867,626 (GRCm39)	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,251,096 (GRCm39)	C269S	possibly damaging	Het
Zp3	T	A	5: 136,014,418 (GRCm39)	S246T	probably benign	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
R7988:Sclt1	UTSW	3	41,617,889 (GRCm39)	makesense	probably null
R8040:Sclt1	UTSW	3	41,611,811 (GRCm39)	missense	probably damaging	1.00
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'- ACCCCACTGTTTATGAAGCC -3'
(R):5'- CCTGGGACTTTGAGTTGTCAAG -3'

Sequencing Primer
(F):5'- CCACTGTTTATGAAGCCAAAGAC -3'
(R):5'- CTGGGACTTTGAGTTGTCAAGATAAG -3'

Posted On

2020-06-30