Incidental Mutation 'R5338:Slit3'
ID |
423644 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slit3
|
Ensembl Gene |
ENSMUSG00000056427 |
Gene Name |
slit guidance ligand 3 |
Synonyms |
Slit1, b2b2362.1Clo |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.871)
|
Stock # |
R5338 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
35012283-35599334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35512975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 534
(T534A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069837]
|
AlphaFold |
Q9WVB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069837
AA Change: T534A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066857 Gene: ENSMUSG00000056427 AA Change: T534A
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
T |
A |
9: 99,502,597 (GRCm39) |
N252K |
probably damaging |
Het |
Abhd16a |
A |
G |
17: 35,313,278 (GRCm39) |
E132G |
probably damaging |
Het |
Adgrv1 |
G |
A |
13: 81,677,165 (GRCm39) |
R1889W |
possibly damaging |
Het |
Aftph |
A |
T |
11: 20,677,203 (GRCm39) |
D135E |
probably benign |
Het |
Arf1 |
A |
C |
11: 59,104,041 (GRCm39) |
F63V |
probably damaging |
Het |
Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
B3gnt7 |
T |
A |
1: 86,233,366 (GRCm39) |
F87Y |
probably damaging |
Het |
Bcat1 |
A |
G |
6: 144,953,353 (GRCm39) |
Y345H |
possibly damaging |
Het |
Birc2 |
G |
T |
9: 7,857,360 (GRCm39) |
T371K |
probably benign |
Het |
Ccdc175 |
A |
T |
12: 72,231,745 (GRCm39) |
S5T |
probably damaging |
Het |
Ccdc186 |
A |
T |
19: 56,801,689 (GRCm39) |
S143T |
possibly damaging |
Het |
Cct6b |
A |
T |
11: 82,653,015 (GRCm39) |
M28K |
possibly damaging |
Het |
Cers4 |
C |
A |
8: 4,565,680 (GRCm39) |
A42D |
probably damaging |
Het |
Crmp1 |
G |
T |
5: 37,437,018 (GRCm39) |
V236L |
probably benign |
Het |
Ctdspl2 |
T |
A |
2: 121,811,793 (GRCm39) |
N212K |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,298,127 (GRCm39) |
V557A |
possibly damaging |
Het |
Dnmt1 |
A |
T |
9: 20,864,015 (GRCm39) |
H23Q |
probably benign |
Het |
Dpp8 |
G |
T |
9: 64,971,206 (GRCm39) |
E609* |
probably null |
Het |
Dtx3 |
C |
A |
10: 127,028,919 (GRCm39) |
M106I |
probably benign |
Het |
Ero1b |
A |
C |
13: 12,589,732 (GRCm39) |
D45A |
probably damaging |
Het |
Fcho2 |
T |
A |
13: 98,867,399 (GRCm39) |
D688V |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 25,161,138 (GRCm39) |
S557C |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,444,063 (GRCm39) |
S626P |
possibly damaging |
Het |
Foxi3 |
G |
T |
6: 70,937,602 (GRCm39) |
G278V |
probably damaging |
Het |
Gbp10 |
A |
G |
5: 105,372,166 (GRCm39) |
L198P |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,721,462 (GRCm39) |
T458A |
probably benign |
Het |
Gigyf1 |
C |
T |
5: 137,521,422 (GRCm39) |
|
probably benign |
Het |
Gtpbp2 |
A |
C |
17: 46,478,760 (GRCm39) |
T526P |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,400,239 (GRCm39) |
L324S |
probably damaging |
Het |
Hpn |
C |
A |
7: 30,802,781 (GRCm39) |
V119L |
probably benign |
Het |
Ino80d |
C |
A |
1: 63,098,098 (GRCm39) |
V599L |
probably benign |
Het |
Kcnh3 |
G |
T |
15: 99,140,275 (GRCm39) |
G1054* |
probably null |
Het |
Maml1 |
A |
T |
11: 50,157,778 (GRCm39) |
D132E |
probably benign |
Het |
Mastl |
A |
T |
2: 23,023,503 (GRCm39) |
S407T |
probably benign |
Het |
Mettl1 |
T |
C |
10: 126,878,954 (GRCm39) |
W3R |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,651,399 (GRCm39) |
Y1701C |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,069,350 (GRCm39) |
N484D |
probably damaging |
Het |
Nod2 |
G |
A |
8: 89,399,413 (GRCm39) |
|
probably null |
Het |
Nrde2 |
A |
T |
12: 100,097,037 (GRCm39) |
F921Y |
probably damaging |
Het |
Nup88 |
G |
T |
11: 70,835,734 (GRCm39) |
T575N |
probably damaging |
Het |
Nxpe3 |
T |
C |
16: 55,686,706 (GRCm39) |
T101A |
possibly damaging |
Het |
Or1o3 |
T |
A |
17: 37,574,532 (GRCm39) |
T8S |
probably benign |
Het |
Or2r11 |
A |
G |
6: 42,437,908 (GRCm39) |
M15T |
probably benign |
Het |
Or4c109 |
C |
T |
2: 88,817,809 (GRCm39) |
V246I |
possibly damaging |
Het |
Or52e15 |
A |
G |
7: 104,645,514 (GRCm39) |
L199S |
possibly damaging |
Het |
Or8g32 |
A |
T |
9: 39,305,371 (GRCm39) |
I92F |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,722,624 (GRCm39) |
L1356Q |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,813,510 (GRCm39) |
M4017L |
probably benign |
Het |
Polg2 |
A |
G |
11: 106,670,064 (GRCm39) |
C69R |
possibly damaging |
Het |
Prr5l |
T |
G |
2: 101,547,452 (GRCm39) |
S358R |
probably benign |
Het |
Ptprg |
A |
G |
14: 12,154,111 (GRCm38) |
T611A |
probably benign |
Het |
Ryk |
G |
T |
9: 102,774,516 (GRCm39) |
E417* |
probably null |
Het |
Sbp |
T |
C |
17: 24,161,396 (GRCm39) |
|
probably benign |
Het |
Sema4a |
T |
C |
3: 88,358,804 (GRCm39) |
T155A |
probably benign |
Het |
Shank3 |
A |
G |
15: 89,415,914 (GRCm39) |
|
probably null |
Het |
Slc35d2 |
A |
T |
13: 64,245,496 (GRCm39) |
M294K |
possibly damaging |
Het |
Slc41a3 |
A |
T |
6: 90,589,153 (GRCm39) |
N88I |
possibly damaging |
Het |
Ssx2ip |
A |
G |
3: 146,142,296 (GRCm39) |
|
probably null |
Het |
Stard13 |
T |
C |
5: 150,983,063 (GRCm39) |
K648R |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,626,178 (GRCm39) |
T512S |
probably damaging |
Het |
Tbcc |
T |
C |
17: 47,202,082 (GRCm39) |
V156A |
probably benign |
Het |
Terf1 |
T |
G |
1: 15,901,787 (GRCm39) |
I273R |
possibly damaging |
Het |
Tesc |
A |
G |
5: 118,197,523 (GRCm39) |
Y179C |
probably damaging |
Het |
Ttc3 |
T |
G |
16: 94,184,900 (GRCm39) |
V40G |
probably damaging |
Het |
Tysnd1 |
T |
A |
10: 61,532,028 (GRCm39) |
F227I |
probably damaging |
Het |
Vps53 |
T |
C |
11: 75,972,034 (GRCm39) |
E271G |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,812,823 (GRCm39) |
R1650H |
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 |
|
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 |
R7418:Slit3
|
UTSW |
11 |
35,577,255 (GRCm39) |
missense |
possibly damaging |
0.64 |
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'- GAACCTTGTGCCTGAAAACCG -3'
(R):5'- GAGCAACGCCTGGTTTTATAG -3'
Sequencing Primer
(F):5'- CTTGTGCCTGAAAACCGAAATG -3'
(R):5'- TAGTGAGTGTCCAGAAAGCATTC -3'
|
Posted On |
2016-08-04 |