Incidental Mutation 'R7418:Slit3'
ID |
575468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slit3
|
Ensembl Gene |
ENSMUSG00000056427 |
Gene Name |
slit guidance ligand 3 |
Synonyms |
Slit1, b2b2362.1Clo |
MMRRC Submission |
045496-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.897)
|
Stock # |
R7418 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
35012283-35599334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 35577255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1163
(V1163M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069837]
|
AlphaFold |
Q9WVB4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069837
AA Change: V1163M
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000066857 Gene: ENSMUSG00000056427 AA Change: V1163M
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
LRRNT
|
33 |
65 |
2.12e-8 |
SMART |
LRR
|
59 |
83 |
1.37e2 |
SMART |
LRR_TYP
|
84 |
107 |
1.12e-3 |
SMART |
LRR_TYP
|
108 |
131 |
7.78e-3 |
SMART |
LRR_TYP
|
132 |
155 |
5.42e-2 |
SMART |
LRR
|
156 |
179 |
5.88e0 |
SMART |
LRR
|
180 |
203 |
7.55e-1 |
SMART |
LRRCT
|
215 |
264 |
1.33e-6 |
SMART |
LRRNT
|
279 |
311 |
6.79e-7 |
SMART |
LRR
|
305 |
329 |
1.16e2 |
SMART |
LRR
|
330 |
353 |
1.26e1 |
SMART |
LRR_TYP
|
354 |
377 |
2.79e-4 |
SMART |
LRR
|
378 |
401 |
4.05e-1 |
SMART |
LRR
|
402 |
425 |
4.05e-1 |
SMART |
LRRCT
|
437 |
486 |
7.75e-8 |
SMART |
LRRNT
|
504 |
536 |
1.95e-7 |
SMART |
LRR_TYP
|
556 |
579 |
7.49e-5 |
SMART |
LRR
|
581 |
603 |
6.41e1 |
SMART |
LRR_TYP
|
604 |
627 |
2.53e-2 |
SMART |
LRR
|
628 |
651 |
1.76e-1 |
SMART |
LRRCT
|
663 |
712 |
2.52e-7 |
SMART |
LRRNT
|
724 |
756 |
3e-8 |
SMART |
LRR
|
774 |
797 |
2.14e0 |
SMART |
LRR_TYP
|
798 |
821 |
2.95e-3 |
SMART |
LRR_TYP
|
822 |
845 |
2.43e-4 |
SMART |
LRRCT
|
857 |
906 |
1.12e-13 |
SMART |
EGF
|
919 |
953 |
6.86e-4 |
SMART |
EGF
|
958 |
994 |
8.84e-7 |
SMART |
EGF
|
999 |
1032 |
1.13e-4 |
SMART |
EGF
|
1037 |
1072 |
2.3e-5 |
SMART |
EGF_CA
|
1074 |
1110 |
5.92e-8 |
SMART |
EGF
|
1122 |
1155 |
3.79e-6 |
SMART |
LamG
|
1178 |
1314 |
3.16e-34 |
SMART |
EGF
|
1331 |
1365 |
2.19e-2 |
SMART |
EGF
|
1371 |
1403 |
1.13e-4 |
SMART |
EGF
|
1411 |
1444 |
5.57e-4 |
SMART |
CT
|
1455 |
1523 |
4.56e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
96% (66/69) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] PHENOTYPE: Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apaf1 |
T |
G |
10: 90,859,697 (GRCm39) |
H827P |
probably benign |
Het |
Atp8b3 |
A |
T |
10: 80,365,926 (GRCm39) |
L308Q |
probably damaging |
Het |
Ccdc180 |
T |
C |
4: 45,904,616 (GRCm39) |
L404P |
probably damaging |
Het |
Cdh13 |
G |
A |
8: 120,039,264 (GRCm39) |
G569R |
probably damaging |
Het |
Clec14a |
G |
A |
12: 58,315,433 (GRCm39) |
T63I |
probably damaging |
Het |
Cngb1 |
G |
T |
8: 96,004,887 (GRCm39) |
S487* |
probably null |
Het |
Cog5 |
A |
T |
12: 31,883,240 (GRCm39) |
N390Y |
probably damaging |
Het |
Col6a4 |
C |
T |
9: 105,900,114 (GRCm39) |
G1670S |
probably damaging |
Het |
Daxx |
T |
A |
17: 34,129,579 (GRCm39) |
D53E |
probably benign |
Het |
Dnah14 |
C |
T |
1: 181,444,307 (GRCm39) |
T539I |
possibly damaging |
Het |
Dnajc2 |
A |
G |
5: 21,965,622 (GRCm39) |
|
probably null |
Het |
Ehmt1 |
C |
T |
2: 24,774,646 (GRCm39) |
G53R |
probably benign |
Het |
Eif2b1 |
T |
A |
5: 124,714,893 (GRCm39) |
N113Y |
probably benign |
Het |
Eya3 |
A |
G |
4: 132,408,159 (GRCm39) |
T152A |
possibly damaging |
Het |
Fam234b |
G |
A |
6: 135,194,009 (GRCm39) |
V221M |
probably benign |
Het |
Fbxl13 |
T |
A |
5: 21,786,981 (GRCm39) |
T319S |
probably benign |
Het |
Fchsd2 |
G |
T |
7: 100,920,831 (GRCm39) |
V479F |
possibly damaging |
Het |
Fgd5 |
T |
C |
6: 92,001,519 (GRCm39) |
S905P |
probably benign |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
Fxn |
C |
T |
19: 24,257,860 (GRCm39) |
V24I |
probably benign |
Het |
Gapvd1 |
C |
T |
2: 34,615,130 (GRCm39) |
D456N |
probably benign |
Het |
Gm128 |
C |
T |
3: 95,147,878 (GRCm39) |
V139M |
possibly damaging |
Het |
Gm973 |
A |
G |
1: 59,565,972 (GRCm39) |
T64A |
probably damaging |
Het |
Gtf2h5 |
T |
A |
17: 6,134,903 (GRCm39) |
N64K |
probably damaging |
Het |
H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
Haus6 |
A |
G |
4: 86,513,010 (GRCm39) |
S386P |
possibly damaging |
Het |
Hsh2d |
A |
G |
8: 72,950,638 (GRCm39) |
|
probably null |
Het |
Htt |
T |
C |
5: 34,947,697 (GRCm39) |
M125T |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,635,933 (GRCm39) |
|
probably null |
Het |
Ints4 |
G |
A |
7: 97,140,179 (GRCm39) |
A137T |
probably benign |
Het |
Isl2 |
A |
G |
9: 55,451,636 (GRCm39) |
D263G |
probably benign |
Het |
Itgb5 |
T |
G |
16: 33,705,464 (GRCm39) |
D251E |
probably damaging |
Het |
Jpt1 |
A |
T |
11: 115,389,095 (GRCm39) |
L116Q |
probably damaging |
Het |
Kansl2 |
A |
G |
15: 98,429,775 (GRCm39) |
S86P |
possibly damaging |
Het |
Kat2b |
G |
T |
17: 53,917,953 (GRCm39) |
R104I |
possibly damaging |
Het |
Kcna10 |
C |
A |
3: 107,102,362 (GRCm39) |
A331D |
probably benign |
Het |
Kcnk3 |
G |
A |
5: 30,779,675 (GRCm39) |
V242M |
possibly damaging |
Het |
Kdm4a |
A |
G |
4: 118,017,440 (GRCm39) |
L542P |
probably damaging |
Het |
Kif20b |
T |
C |
19: 34,907,087 (GRCm39) |
F119L |
probably damaging |
Het |
Krtcap3 |
A |
T |
5: 31,409,881 (GRCm39) |
H149L |
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,586,005 (GRCm39) |
V102A |
probably damaging |
Het |
Luc7l |
T |
A |
17: 26,472,156 (GRCm39) |
|
probably benign |
Het |
Myh15 |
G |
T |
16: 48,975,900 (GRCm39) |
A1323S |
possibly damaging |
Het |
Myl1 |
T |
A |
1: 66,965,338 (GRCm39) |
R151S |
unknown |
Het |
Naif1 |
A |
G |
2: 32,342,583 (GRCm39) |
S45G |
probably benign |
Het |
Ndst4 |
C |
T |
3: 125,501,800 (GRCm39) |
T121I |
probably damaging |
Het |
Neurod6 |
C |
T |
6: 55,656,283 (GRCm39) |
R118Q |
probably damaging |
Het |
Npl |
A |
T |
1: 153,413,257 (GRCm39) |
|
probably null |
Het |
Nr4a3 |
T |
C |
4: 48,051,476 (GRCm39) |
Y77H |
probably damaging |
Het |
Or4a81 |
A |
T |
2: 89,619,320 (GRCm39) |
C125* |
probably null |
Het |
Or4b1 |
T |
G |
2: 89,979,831 (GRCm39) |
D173A |
probably damaging |
Het |
Pex11a |
G |
A |
7: 79,392,735 (GRCm39) |
|
probably benign |
Het |
Rab44 |
T |
A |
17: 29,359,470 (GRCm39) |
F553I |
unknown |
Het |
Sbf2 |
C |
T |
7: 109,965,028 (GRCm39) |
R1002H |
probably damaging |
Het |
Sectm1a |
C |
A |
11: 120,960,119 (GRCm39) |
|
probably null |
Het |
Sphk2 |
G |
A |
7: 45,361,180 (GRCm39) |
R275C |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,466 (GRCm39) |
S96G |
probably benign |
Het |
Tg |
A |
G |
15: 66,568,432 (GRCm39) |
E1373G |
probably damaging |
Het |
Traf3ip1 |
T |
A |
1: 91,435,458 (GRCm39) |
|
probably null |
Het |
Trp53 |
T |
C |
11: 69,479,214 (GRCm39) |
F131L |
probably damaging |
Het |
Ttc21a |
A |
T |
9: 119,788,117 (GRCm39) |
E847D |
probably benign |
Het |
Ttn |
A |
G |
2: 76,602,791 (GRCm39) |
F18477S |
probably damaging |
Het |
Usp25 |
A |
T |
16: 76,910,730 (GRCm39) |
R929* |
probably null |
Het |
Usp49 |
G |
T |
17: 47,983,093 (GRCm39) |
E33* |
probably null |
Het |
Vmn1r63 |
A |
G |
7: 5,806,554 (GRCm39) |
V26A |
possibly damaging |
Het |
Vmn1r74 |
A |
T |
7: 11,581,081 (GRCm39) |
Y127F |
possibly damaging |
Het |
Wdfy3 |
C |
T |
5: 102,105,366 (GRCm39) |
V154I |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,799 (GRCm39) |
K446E |
probably damaging |
Het |
|
Other mutations in Slit3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00731:Slit3
|
APN |
11 |
35,512,981 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01324:Slit3
|
APN |
11 |
35,501,529 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01612:Slit3
|
APN |
11 |
35,591,211 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02145:Slit3
|
APN |
11 |
35,520,569 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02146:Slit3
|
APN |
11 |
35,125,675 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02430:Slit3
|
APN |
11 |
35,068,601 (GRCm39) |
splice site |
probably null |
|
IGL02528:Slit3
|
APN |
11 |
35,469,801 (GRCm39) |
missense |
probably benign |
|
IGL02530:Slit3
|
APN |
11 |
35,598,969 (GRCm39) |
makesense |
probably null |
|
IGL02640:Slit3
|
APN |
11 |
35,591,172 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02819:Slit3
|
APN |
11 |
35,062,417 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02839:Slit3
|
APN |
11 |
35,539,874 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03150:Slit3
|
APN |
11 |
35,399,084 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03161:Slit3
|
APN |
11 |
35,591,241 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03336:Slit3
|
APN |
11 |
35,560,928 (GRCm39) |
missense |
probably damaging |
0.97 |
Bloated
|
UTSW |
11 |
35,524,779 (GRCm39) |
missense |
possibly damaging |
0.55 |
Quellung
|
UTSW |
11 |
35,542,647 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02988:Slit3
|
UTSW |
11 |
35,598,890 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4791001:Slit3
|
UTSW |
11 |
35,552,072 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0013:Slit3
|
UTSW |
11 |
35,598,745 (GRCm39) |
missense |
probably benign |
|
R0013:Slit3
|
UTSW |
11 |
35,598,745 (GRCm39) |
missense |
probably benign |
|
R0334:Slit3
|
UTSW |
11 |
35,469,928 (GRCm39) |
missense |
probably damaging |
0.97 |
R0385:Slit3
|
UTSW |
11 |
35,591,109 (GRCm39) |
missense |
probably damaging |
0.98 |
R0840:Slit3
|
UTSW |
11 |
35,514,263 (GRCm39) |
splice site |
probably benign |
|
R1065:Slit3
|
UTSW |
11 |
35,012,462 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1364:Slit3
|
UTSW |
11 |
35,560,934 (GRCm39) |
missense |
probably benign |
|
R1476:Slit3
|
UTSW |
11 |
35,577,126 (GRCm39) |
missense |
probably damaging |
0.97 |
R1508:Slit3
|
UTSW |
11 |
35,461,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Slit3
|
UTSW |
11 |
35,125,733 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1692:Slit3
|
UTSW |
11 |
35,550,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Slit3
|
UTSW |
11 |
35,566,750 (GRCm39) |
missense |
probably damaging |
0.99 |
R1727:Slit3
|
UTSW |
11 |
35,520,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R1752:Slit3
|
UTSW |
11 |
35,455,480 (GRCm39) |
missense |
probably damaging |
0.98 |
R1970:Slit3
|
UTSW |
11 |
35,521,668 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2077:Slit3
|
UTSW |
11 |
35,435,575 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2126:Slit3
|
UTSW |
11 |
35,579,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Slit3
|
UTSW |
11 |
35,503,088 (GRCm39) |
splice site |
probably null |
|
R2162:Slit3
|
UTSW |
11 |
35,579,509 (GRCm39) |
missense |
probably null |
1.00 |
R2873:Slit3
|
UTSW |
11 |
35,435,620 (GRCm39) |
nonsense |
probably null |
|
R3813:Slit3
|
UTSW |
11 |
35,566,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Slit3
|
UTSW |
11 |
35,579,509 (GRCm39) |
missense |
probably null |
1.00 |
R3832:Slit3
|
UTSW |
11 |
35,579,509 (GRCm39) |
missense |
probably null |
1.00 |
R3833:Slit3
|
UTSW |
11 |
35,579,509 (GRCm39) |
missense |
probably null |
1.00 |
R3839:Slit3
|
UTSW |
11 |
35,399,064 (GRCm39) |
missense |
probably benign |
0.10 |
R4152:Slit3
|
UTSW |
11 |
35,589,147 (GRCm39) |
missense |
probably damaging |
0.98 |
R4387:Slit3
|
UTSW |
11 |
35,574,875 (GRCm39) |
missense |
probably benign |
0.12 |
R4795:Slit3
|
UTSW |
11 |
35,542,647 (GRCm39) |
critical splice donor site |
probably null |
|
R4910:Slit3
|
UTSW |
11 |
35,523,549 (GRCm39) |
missense |
probably damaging |
0.99 |
R4933:Slit3
|
UTSW |
11 |
35,579,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R5048:Slit3
|
UTSW |
11 |
35,479,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R5106:Slit3
|
UTSW |
11 |
35,503,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R5138:Slit3
|
UTSW |
11 |
35,479,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R5218:Slit3
|
UTSW |
11 |
35,575,002 (GRCm39) |
critical splice donor site |
probably null |
|
R5338:Slit3
|
UTSW |
11 |
35,512,975 (GRCm39) |
missense |
probably benign |
|
R5354:Slit3
|
UTSW |
11 |
35,566,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Slit3
|
UTSW |
11 |
35,598,738 (GRCm39) |
missense |
probably benign |
0.05 |
R5896:Slit3
|
UTSW |
11 |
35,598,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R5933:Slit3
|
UTSW |
11 |
35,520,578 (GRCm39) |
missense |
probably benign |
0.04 |
R5963:Slit3
|
UTSW |
11 |
35,591,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R5964:Slit3
|
UTSW |
11 |
35,591,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R6125:Slit3
|
UTSW |
11 |
35,461,560 (GRCm39) |
critical splice donor site |
probably null |
|
R6153:Slit3
|
UTSW |
11 |
35,591,310 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6484:Slit3
|
UTSW |
11 |
35,552,125 (GRCm39) |
missense |
probably benign |
|
R6526:Slit3
|
UTSW |
11 |
35,552,119 (GRCm39) |
missense |
probably benign |
0.33 |
R6797:Slit3
|
UTSW |
11 |
35,524,779 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6887:Slit3
|
UTSW |
11 |
35,435,633 (GRCm39) |
splice site |
probably null |
|
R7067:Slit3
|
UTSW |
11 |
35,399,057 (GRCm39) |
missense |
probably benign |
0.04 |
R7150:Slit3
|
UTSW |
11 |
35,461,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R7228:Slit3
|
UTSW |
11 |
35,490,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R7232:Slit3
|
UTSW |
11 |
35,501,516 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7545:Slit3
|
UTSW |
11 |
35,591,139 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7727:Slit3
|
UTSW |
11 |
35,574,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R7820:Slit3
|
UTSW |
11 |
35,591,235 (GRCm39) |
missense |
probably benign |
0.23 |
R8177:Slit3
|
UTSW |
11 |
35,469,919 (GRCm39) |
missense |
probably damaging |
0.99 |
R8179:Slit3
|
UTSW |
11 |
35,554,903 (GRCm39) |
missense |
probably benign |
0.31 |
R8416:Slit3
|
UTSW |
11 |
35,399,062 (GRCm39) |
missense |
probably benign |
0.08 |
R8417:Slit3
|
UTSW |
11 |
35,501,438 (GRCm39) |
missense |
probably damaging |
0.99 |
R8476:Slit3
|
UTSW |
11 |
35,520,596 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8785:Slit3
|
UTSW |
11 |
35,560,968 (GRCm39) |
missense |
probably damaging |
0.98 |
R8955:Slit3
|
UTSW |
11 |
35,589,207 (GRCm39) |
missense |
probably damaging |
0.97 |
R9040:Slit3
|
UTSW |
11 |
35,594,136 (GRCm39) |
missense |
probably damaging |
0.98 |
R9068:Slit3
|
UTSW |
11 |
35,574,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Slit3
|
UTSW |
11 |
35,012,463 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9266:Slit3
|
UTSW |
11 |
35,598,808 (GRCm39) |
missense |
probably damaging |
0.98 |
R9539:Slit3
|
UTSW |
11 |
35,589,155 (GRCm39) |
nonsense |
probably null |
|
R9636:Slit3
|
UTSW |
11 |
35,594,088 (GRCm39) |
missense |
probably damaging |
0.97 |
X0028:Slit3
|
UTSW |
11 |
35,455,464 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Slit3
|
UTSW |
11 |
35,598,751 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTGATGACTATGGCTGTCTCCTC -3'
(R):5'- CCTGCAAAGCTCATATTCTGGG -3'
Sequencing Primer
(F):5'- CCCTCTCTCCAGTGGGC -3'
(R):5'- CTCATATTCTGGGAAGAGTCAGGC -3'
|
Posted On |
2019-10-07 |