Incidental Mutation 'R0172:Sclt1'
| ID |
24259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sclt1
|
| Ensembl Gene |
ENSMUSG00000059834 |
| Gene Name |
sodium channel and clathrin linker 1 |
| Synonyms |
2610207F23Rik, 4931421F20Rik |
| MMRRC Submission |
038444-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R0172 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
41581155-41696949 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41672222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 123
(I123N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026866]
[ENSMUST00000146125]
[ENSMUST00000148769]
|
| AlphaFold |
G5E861 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026866
AA Change: I123N
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
AA Change: I123N
| 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 |
possibly damaging
Transcript: ENSMUST00000148769
AA Change: I123N
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834
AA Change: I123N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
59 |
105 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156279
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
82% (40/49) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,578 (GRCm39) |
C488S |
probably damaging |
Het |
| Abca12 |
T |
G |
1: 71,318,561 (GRCm39) |
D1814A |
probably damaging |
Het |
| Acp7 |
T |
C |
7: 28,314,549 (GRCm39) |
N272S |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,811,888 (GRCm39) |
V1145A |
probably damaging |
Het |
| Ap1m2 |
A |
T |
9: 21,209,628 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,610,301 (GRCm39) |
V224A |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,155,411 (GRCm39) |
E2253G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,193 (GRCm39) |
N237S |
probably benign |
Het |
| Crispld2 |
T |
C |
8: 120,752,810 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2c65 |
G |
T |
19: 39,076,100 (GRCm39) |
V351L |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,056,389 (GRCm39) |
F574L |
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,086,031 (GRCm39) |
T370M |
possibly damaging |
Het |
| Dmwd |
C |
T |
7: 18,814,267 (GRCm39) |
R306C |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,188 (GRCm39) |
Y3040C |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,309,935 (GRCm39) |
H1536Q |
probably damaging |
Het |
| Eif3j1 |
A |
G |
2: 121,882,246 (GRCm39) |
I202V |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,070,574 (GRCm39) |
V2283D |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,938,328 (GRCm39) |
N625S |
probably benign |
Het |
| Exosc10 |
T |
C |
4: 148,649,814 (GRCm39) |
S415P |
probably benign |
Het |
| F830016B08Rik |
G |
T |
18: 60,433,036 (GRCm39) |
D40Y |
possibly damaging |
Het |
| Fam118a |
A |
G |
15: 84,929,951 (GRCm39) |
I60V |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,852,768 (GRCm39) |
M150K |
unknown |
Het |
| Fam193a |
C |
T |
5: 34,622,957 (GRCm39) |
R1182W |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,771,187 (GRCm39) |
I181K |
possibly damaging |
Het |
| Hip1r |
T |
A |
5: 124,135,003 (GRCm39) |
Y380N |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,015,218 (GRCm39) |
P1795Q |
probably damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,494 (GRCm39) |
E238G |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,853,234 (GRCm39) |
A172T |
probably damaging |
Het |
| Lipg |
G |
T |
18: 75,081,245 (GRCm39) |
H279N |
possibly damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,510,260 (GRCm39) |
D453G |
possibly damaging |
Het |
| Map1s |
T |
A |
8: 71,367,612 (GRCm39) |
M839K |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Myo1h |
T |
A |
5: 114,467,225 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
T |
C |
13: 36,914,544 (GRCm39) |
R19G |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,712 (GRCm39) |
Y1099H |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,231,209 (GRCm39) |
R387C |
possibly damaging |
Het |
| Or2a25 |
T |
C |
6: 42,888,913 (GRCm39) |
V152A |
probably benign |
Het |
| Pappa2 |
C |
T |
1: 158,682,419 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
A |
T |
18: 37,575,990 (GRCm39) |
I123L |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,306,521 (GRCm39) |
T292A |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,358,111 (GRCm39) |
V469D |
probably damaging |
Het |
| Pop4 |
T |
C |
7: 37,962,679 (GRCm39) |
Y195C |
probably damaging |
Het |
| Rbsn |
A |
T |
6: 92,188,588 (GRCm39) |
D42E |
probably damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,843,201 (GRCm39) |
G393* |
probably null |
Het |
| Smu1 |
C |
T |
4: 40,738,439 (GRCm39) |
V432I |
probably benign |
Het |
| Sohlh1 |
A |
G |
2: 25,736,215 (GRCm39) |
|
probably null |
Het |
| Spta1 |
T |
A |
1: 174,058,352 (GRCm39) |
I1940K |
probably damaging |
Het |
| Sufu |
G |
T |
19: 46,385,563 (GRCm39) |
V8F |
possibly damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem184b |
A |
G |
15: 79,262,740 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,694 (GRCm39) |
D161G |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,280,685 (GRCm39) |
K54R |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
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 |
|
|
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 |
|
R9729:Sclt1
|
UTSW |
3 |
41,629,837 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGGACAGAGTCACAGCAATTTCAA -3'
(R):5'- AGGGCAAACTGAACTCTACCTGAGTTAT -3'
Sequencing Primer
(F):5'- agagcaagaaagggtattggag -3'
(R):5'- ACTCTACCTGAGTTATCATCAGTTTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation