Mutagenetix > Incidental Mutations

Incidental Mutation 'R1831:Sclt1'

207302

Institutional Source

Beutler Lab

Gene Symbol

Sclt1

Ensembl Gene

ENSMUSG00000059834

Gene Name

sodium channel and clathrin linker 1

Synonyms

2610207F23Rik, 4931421F20Rik

MMRRC Submission

039858-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41626720-41742514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41727111 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000123392 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000026866
AA Change: V91A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
AA Change: V91A

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: V91A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834
AA Change: V91A

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

Meta Mutation Damage Score

0.2278

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,577,255	D77G	probably damaging	Het
Adam1b	A	G	5: 121,502,937	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,204,890	I312M	probably benign	Het
Capn8	G	A	1: 182,611,101		probably null	Het
Carmil1	A	T	13: 24,164,879	V15E	probably benign	Het
Ccdc42	T	A	11: 68,590,979	M133K	probably benign	Het
Cd5	T	C	19: 10,719,569	D485G	probably damaging	Het
Cep104	T	A	4: 154,002,546	V842E	probably benign	Het
Cep162	T	A	9: 87,206,932	I966L	probably damaging	Het
Cklf	T	C	8: 104,251,055	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,348,253	P587S	probably benign	Het
Cyp21a1	A	T	17: 34,804,035		probably benign	Het
Cyp26a1	A	T	19: 37,700,623	L335F	probably damaging	Het
Dcst1	A	G	3: 89,352,750	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,606,954	L44H	probably damaging	Het
Dnah6	G	A	6: 73,181,797	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333	T311S	probably benign	Het
Dthd1	A	G	5: 62,827,229	T426A	probably benign	Het
Dync1h1	A	G	12: 110,614,059	K118R	probably damaging	Het
Efemp1	A	T	11: 28,921,442	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,354,415	Y87N	probably damaging	Het
Ern1	A	T	11: 106,399,842		probably null	Het
Fam184a	A	T	10: 53,647,084	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,423,219	E351G	probably damaging	Het
Fmn2	A	G	1: 174,609,945	S1161G	probably benign	Het
Frem1	A	G	4: 83,020,837	S3P	possibly damaging	Het
Gm10260	A	G	13: 97,760,545	V15A	probably benign	Het
Gm281	A	G	14: 13,899,619	I101T	probably damaging	Het
Gpr3	C	T	4: 133,211,143	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,615,806	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,168,369	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,439,699	S104R	probably benign	Het
Hacd2	T	C	16: 35,102,064	Y208H	probably damaging	Het
Hid1	C	T	11: 115,348,903	G734R	probably damaging	Het
Ifi207	A	G	1: 173,732,426	I160T	unknown	Het
Itga11	T	A	9: 62,782,018	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,855,343	S157P	probably damaging	Het
Lamb3	A	G	1: 193,334,879	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc66	G	A	5: 73,607,426	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,400,146	S1213N	possibly damaging	Het
Med1	T	C	11: 98,156,611		probably benign	Het
Megf6	C	T	4: 154,270,677	T1483M	probably benign	Het
Micall2	A	G	5: 139,716,753	V245A	probably benign	Het
Mipep	T	G	14: 60,872,063	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,601,478	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789	M165L	probably benign	Het
Nmbr	C	A	10: 14,766,865	T56K	probably benign	Het
Nxpe2	T	A	9: 48,326,152	M268L	probably benign	Het
Oasl2	A	G	5: 114,901,306	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,337,527	V377E	probably damaging	Het
Olfr115	G	A	17: 37,609,839	S304L	possibly damaging	Het
Olfr738	T	A	14: 50,414,201		probably null	Het
Ovgp1	A	G	3: 105,985,068	R346G	probably benign	Het
Parp14	T	A	16: 35,858,588	N337Y	possibly damaging	Het
Pask	A	C	1: 93,320,769		probably null	Het
Pax3	G	T	1: 78,132,340	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,544,034	M594K	probably benign	Het
Pms1	A	G	1: 53,207,211	F390L	probably benign	Het
Polg	G	A	7: 79,459,770	T433I	probably benign	Het
Prex1	T	C	2: 166,585,101	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,479,222	C1921*	probably null	Het
Rif1	T	A	2: 52,078,495	L230*	probably null	Het
Rnf148	A	G	6: 23,654,773	F75L	probably damaging	Het
Sirt1	T	C	10: 63,320,646	D735G	probably benign	Het
Spag5	T	A	11: 78,314,256	N622K	probably benign	Het
Sspo	T	G	6: 48,489,786	C3935W	probably damaging	Het
Strbp	A	G	2: 37,625,265	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 116,090,536	T541A	possibly damaging	Het
Thada	A	C	17: 84,231,114	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,860,294	S685T	probably benign	Het
Tldc1	T	C	8: 119,771,253	M171V	probably null	Het
Tpsb2	T	A	17: 25,366,520		probably null	Het
Trip4	C	A	9: 65,858,340	G359V	probably damaging	Het
Tsr1	T	C	11: 74,900,356	F254L	probably benign	Het
Vmn1r120	T	C	7: 21,053,631	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,307,707	Y137*	probably null	Het
Vmn2r52	T	C	7: 10,159,488	K575E	probably damaging	Het
Wdr95	A	G	5: 149,552,426	Y63C	probably damaging	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
IGL01368:Sclt1	APN	3	41711175	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- GCTATCCAATACCATGTTGTCAG -3'
(R):5'- AACTATCCGTATGTGATATGGCTTG -3'

Sequencing Primer
(F):5'- CCATGTTGTCAGTCCTAAAAATAGAC -3'
(R):5'- CCGTATGTGATATGGCTTGTTAAAAG -3'

Posted On

2014-06-23