Mutagenetix > Incidental Mutation

Incidental Mutation 'R9729:Sclt1'

731205

Institutional Source

Beutler Lab

Gene Symbol

Sclt1

Ensembl Gene

ENSMUSG00000059834

Gene Name

sodium channel and clathrin linker 1

Synonyms

2610207F23Rik, 4931421F20Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41581155-41696949 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 41629837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 325 (E325*)

Ref Sequence

ENSEMBL: ENSMUSP00000026866 (fasta)

Gene Model

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

AlphaFold

G5E861

Predicted Effect

probably null
Transcript: ENSMUST00000026866
AA Change: E325*

SMART Domains

Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
AA Change: E325*

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 null
Transcript: ENSMUST00000148769
AA Change: E325*

SMART Domains

Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834
AA Change: E325*

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: 99.7%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,519 (GRCm39)	M273K	probably benign	Het
Aar2	A	G	2: 156,393,361 (GRCm39)	D250G	probably benign	Het
Acly	T	A	11: 100,407,711 (GRCm39)	Y213F	probably benign	Het
Adgrg5	G	A	8: 95,668,133 (GRCm39)	M399I		Het
Adhfe1	T	C	1: 9,623,634 (GRCm39)	L95P	probably damaging	Het
Ano7	G	A	1: 93,322,180 (GRCm39)	C396Y	probably damaging	Het
Apob	T	A	12: 8,066,125 (GRCm39)	Y4365N	probably damaging	Het
Arfgap3	C	T	15: 83,192,366 (GRCm39)	R411H	probably damaging	Het
Bbs7	T	C	3: 36,661,818 (GRCm39)	Y127C	probably damaging	Het
Cadps2	T	C	6: 23,382,982 (GRCm39)	T793A	probably benign	Het
Casp8ap2	T	A	4: 32,643,807 (GRCm39)	V960E	possibly damaging	Het
Cd200l1	G	T	16: 45,264,237 (GRCm39)	T107N	possibly damaging	Het
Cdkl3	A	G	11: 51,895,770 (GRCm39)	T6A	probably benign	Het
Cdkn2aip	T	C	8: 48,166,654 (GRCm39)	D51G	probably benign	Het
Cdpf1	G	T	15: 85,692,527 (GRCm39)	S52*	probably null	Het
Celf5	T	A	10: 81,303,925 (GRCm39)	D177V	probably damaging	Het
Cep164	A	G	9: 45,682,897 (GRCm39)	V931A	probably damaging	Het
Cog6	T	C	3: 52,900,907 (GRCm39)	D457G	probably damaging	Het
Col4a2	G	T	8: 11,496,157 (GRCm39)	V1593L	probably benign	Het
Dlg5	C	G	14: 24,204,681 (GRCm39)	M1287I	probably benign	Het
Dmrt1	T	C	19: 25,523,362 (GRCm39)	S238P	probably benign	Het
Dpysl2	A	G	14: 67,099,927 (GRCm39)	M103T	probably benign	Het
Emsy	C	A	7: 98,262,256 (GRCm39)	A608S	probably benign	Het
Entr1	A	G	2: 26,278,645 (GRCm39)	F21S	unknown	Het
Entrep2	C	T	7: 64,806,056 (GRCm39)	G6S	probably benign	Het
Exoc5	A	T	14: 49,253,086 (GRCm39)	C576S	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,558 (GRCm39)	V214M	possibly damaging	Het
Fignl1	A	G	11: 11,752,219 (GRCm39)	S279P	probably benign	Het
Gimap1	A	G	6: 48,719,386 (GRCm39)	R71G	unknown	Het
Gm26727	A	T	2: 67,263,263 (GRCm39)	M88K	probably damaging	Het
Gm45861	T	A	8: 28,045,436 (GRCm39)	W1066R	unknown	Het
Gpr15	A	G	16: 58,538,249 (GRCm39)	L280S	possibly damaging	Het
Grin1	C	T	2: 25,187,422 (GRCm39)	W629*	probably null	Het
Grk5	C	T	19: 61,078,467 (GRCm39)	P508L	possibly damaging	Het
Hgf	A	T	5: 16,766,029 (GRCm39)	D55V	probably damaging	Het
Hipk1	T	A	3: 103,668,890 (GRCm39)	D502V	probably damaging	Het
Kmt2c	T	C	5: 25,489,758 (GRCm39)	K4394E	probably damaging	Het
Llgl2	A	G	11: 115,740,467 (GRCm39)	T388A	probably damaging	Het
Lsm14a	G	T	7: 34,088,898 (GRCm39)	S2R	probably damaging	Het
Madd	A	T	2: 91,000,544 (GRCm39)	M507K	possibly damaging	Het
Map2k3	G	T	11: 60,837,472 (GRCm39)	V191L		Het
Mapk8ip1	A	G	2: 92,217,060 (GRCm39)	S421P	probably damaging	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Myc	T	G	15: 61,859,935 (GRCm39)	C204G	probably damaging	Het
Nampt	A	G	12: 32,900,528 (GRCm39)	H491R	possibly damaging	Het
Noct	C	T	3: 51,157,267 (GRCm39)	Q202*	probably null	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or10b1	T	A	10: 78,355,949 (GRCm39)	F169Y	probably damaging	Het
Osbpl10	G	A	9: 115,052,804 (GRCm39)	V451M	probably damaging	Het
Osr2	T	A	15: 35,303,061 (GRCm39)	F312Y	probably benign	Het
Parp16	A	T	9: 65,137,097 (GRCm39)	I108F	possibly damaging	Het
Parp4	A	G	14: 56,885,888 (GRCm39)	T1656A	unknown	Het
Pnpla8	A	G	12: 44,330,657 (GRCm39)	I374V	probably benign	Het
Prss23	T	C	7: 89,159,931 (GRCm39)	N46S	probably benign	Het
Ptger2	T	C	14: 45,226,476 (GRCm39)	W19R	possibly damaging	Het
Rbl2	T	C	8: 91,805,527 (GRCm39)	S195P	probably damaging	Het
Rnf169	C	T	7: 99,575,477 (GRCm39)	V373I	probably damaging	Het
Sergef	C	T	7: 46,284,913 (GRCm39)	S43N	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc3a2	T	C	19: 8,685,370 (GRCm39)	D472G	probably damaging	Het
Slc43a3	T	C	2: 84,780,800 (GRCm39)	F342L	probably benign	Het
Slc44a4	A	T	17: 35,140,670 (GRCm39)	I288F	probably benign	Het
Snupn	T	A	9: 56,877,915 (GRCm39)	N151K	possibly damaging	Het
Srbd1	A	T	17: 86,437,550 (GRCm39)	D264E	probably benign	Het
Srpra	A	T	9: 35,125,569 (GRCm39)	T378S	probably benign	Het
Stat4	A	G	1: 52,141,762 (GRCm39)	D613G	possibly damaging	Het
Sycp2l	C	T	13: 41,326,132 (GRCm39)	P246L		Het
Tcf20	T	C	15: 82,736,037 (GRCm39)	R1805G	probably benign	Het
Tob1	T	A	11: 94,104,880 (GRCm39)	F139I	probably damaging	Het
Traj9	A	G	14: 54,446,871 (GRCm39)	T8A	unknown	Het
Trank1	G	T	9: 111,220,537 (GRCm39)	D2425Y	probably damaging	Het
Ttn	G	A	2: 76,738,071 (GRCm39)	S4202L	unknown	Het
Ttn	A	T	2: 76,577,267 (GRCm39)	M24542K	probably damaging	Het
Vcam1	T	C	3: 115,911,105 (GRCm39)	Y431C	probably damaging	Het
Vcpkmt	G	A	12: 69,627,936 (GRCm39)	R175C	probably damaging	Het
Vmn2r51	A	T	7: 9,839,479 (GRCm39)	D36E	probably benign	Het
Vmn2r61	A	G	7: 41,949,917 (GRCm39)	E779G	probably damaging	Het
Zfp831	T	C	2: 174,487,938 (GRCm39)	L871P	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
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

Predicted Primers

PCR Primer
(F):5'- CCTACATTTATTCAGTAGCTGCTGATC -3'
(R):5'- AGCTGACCATGGTATGATTTTGTTCAG -3'

Sequencing Primer
(F):5'- AGTAGCTGCTGATCCTTTCATTG -3'
(R):5'- TGGTATGATTTTGTTCAGAATACCC -3'

Posted On

2022-10-06