Incidental Mutation 'R0334:Slit3'
ID |
26140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slit3
|
Ensembl Gene |
ENSMUSG00000056427 |
Gene Name |
slit guidance ligand 3 |
Synonyms |
Slit1, b2b2362.1Clo |
MMRRC Submission |
038543-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.871)
|
Stock # |
R0334 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
35012283-35599334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35469928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 310
(V310E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069837]
|
AlphaFold |
Q9WVB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069837
AA Change: V310E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000066857 Gene: ENSMUSG00000056427 AA Change: V310E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124438
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.6%
|
Validation Efficiency |
99% (68/69) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aggf1 |
T |
C |
13: 95,508,105 (GRCm39) |
N87S |
probably benign |
Het |
Ap2b1 |
T |
C |
11: 83,258,700 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,468,029 (GRCm39) |
Y1724H |
probably damaging |
Het |
Arhgef10l |
G |
A |
4: 140,311,237 (GRCm39) |
Q243* |
probably null |
Het |
Atp8a2 |
A |
T |
14: 59,928,961 (GRCm39) |
F1031Y |
probably damaging |
Het |
Bmp8b |
A |
G |
4: 123,008,553 (GRCm39) |
|
probably null |
Het |
Brinp2 |
G |
T |
1: 158,123,155 (GRCm39) |
T37K |
probably benign |
Het |
Bsph1 |
T |
A |
7: 13,184,864 (GRCm39) |
L9* |
probably null |
Het |
C6 |
T |
G |
15: 4,784,849 (GRCm39) |
N238K |
probably benign |
Het |
Cbs |
T |
C |
17: 31,838,130 (GRCm39) |
D373G |
probably damaging |
Het |
Clec4a3 |
T |
C |
6: 122,946,329 (GRCm39) |
F191S |
possibly damaging |
Het |
Cpz |
A |
G |
5: 35,661,025 (GRCm39) |
V530A |
probably damaging |
Het |
Ctsc |
G |
T |
7: 87,927,550 (GRCm39) |
S47I |
possibly damaging |
Het |
Cyp7b1 |
T |
G |
3: 18,157,960 (GRCm39) |
Y53S |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Defb4 |
T |
C |
8: 19,251,220 (GRCm39) |
I29T |
probably benign |
Het |
Disc1 |
A |
T |
8: 125,987,836 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
G |
11: 69,327,662 (GRCm39) |
M3429T |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,472,213 (GRCm39) |
I3518N |
possibly damaging |
Het |
Dnah8 |
A |
T |
17: 31,090,325 (GRCm39) |
H4609L |
probably damaging |
Het |
Evi5 |
C |
A |
5: 107,968,401 (GRCm39) |
C182F |
probably damaging |
Het |
Fam149b |
G |
A |
14: 20,413,492 (GRCm39) |
R237H |
probably damaging |
Het |
Fut8 |
T |
A |
12: 77,440,536 (GRCm39) |
D174E |
possibly damaging |
Het |
Ghr |
T |
C |
15: 3,370,580 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Gpr176 |
T |
C |
2: 118,110,189 (GRCm39) |
S357G |
probably benign |
Het |
Grwd1 |
A |
T |
7: 45,476,601 (GRCm39) |
|
probably null |
Het |
H2-T24 |
A |
G |
17: 36,325,772 (GRCm39) |
V273A |
possibly damaging |
Het |
Hdac4 |
A |
C |
1: 91,883,760 (GRCm39) |
|
probably benign |
Het |
Herc3 |
A |
G |
6: 58,895,802 (GRCm39) |
T1017A |
probably damaging |
Het |
Hsd11b1 |
T |
C |
1: 192,924,476 (GRCm39) |
|
probably benign |
Het |
Igsf23 |
T |
C |
7: 19,675,678 (GRCm39) |
S143G |
probably benign |
Het |
Kbtbd12 |
T |
A |
6: 88,594,888 (GRCm39) |
Y314F |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,508 (GRCm39) |
|
probably null |
Het |
Kdm5b |
A |
G |
1: 134,532,260 (GRCm39) |
I479M |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,058,068 (GRCm39) |
T600A |
probably damaging |
Het |
Mrgprb2 |
A |
C |
7: 48,202,077 (GRCm39) |
I216S |
probably damaging |
Het |
Muc21 |
A |
G |
17: 35,933,614 (GRCm39) |
|
probably benign |
Het |
Myo1g |
A |
G |
11: 6,461,084 (GRCm39) |
|
probably benign |
Het |
Nrxn3 |
T |
C |
12: 89,780,412 (GRCm39) |
|
probably null |
Het |
Or2ag2 |
A |
G |
7: 106,485,622 (GRCm39) |
V134A |
probably benign |
Het |
Or8b54 |
A |
T |
9: 38,686,535 (GRCm39) |
|
probably null |
Het |
Or8g26 |
A |
G |
9: 39,095,980 (GRCm39) |
I169V |
probably benign |
Het |
Pdia5 |
A |
T |
16: 35,284,760 (GRCm39) |
S66T |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,062,206 (GRCm39) |
E2604G |
probably damaging |
Het |
Plekha6 |
G |
T |
1: 133,209,918 (GRCm39) |
A654S |
probably benign |
Het |
Pnpla2 |
G |
A |
7: 141,039,433 (GRCm39) |
|
probably null |
Het |
Pramel19 |
T |
C |
4: 101,798,781 (GRCm39) |
F251L |
probably benign |
Het |
Prb1c |
T |
A |
6: 132,341,021 (GRCm39) |
Q17L |
unknown |
Het |
Prkdc |
A |
G |
16: 15,554,663 (GRCm39) |
D2128G |
probably benign |
Het |
Rabggta |
A |
T |
14: 55,958,268 (GRCm39) |
L131Q |
probably damaging |
Het |
Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
Rnf139 |
A |
G |
15: 58,771,322 (GRCm39) |
Y449C |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,567,129 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,524,931 (GRCm39) |
V1058A |
possibly damaging |
Het |
Sema3a |
A |
T |
5: 13,607,268 (GRCm39) |
N321I |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,918,256 (GRCm39) |
S627P |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,113,736 (GRCm39) |
F172I |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,352,923 (GRCm39) |
R788S |
unknown |
Het |
Tnks |
T |
A |
8: 35,320,413 (GRCm39) |
K753* |
probably null |
Het |
Trank1 |
T |
A |
9: 111,194,421 (GRCm39) |
V815D |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,222,008 (GRCm39) |
I2915N |
probably damaging |
Het |
Trpc6 |
T |
C |
9: 8,610,344 (GRCm39) |
S271P |
probably damaging |
Het |
Trpm5 |
T |
C |
7: 142,640,613 (GRCm39) |
Q213R |
probably benign |
Het |
Ulk3 |
C |
T |
9: 57,501,510 (GRCm39) |
|
probably benign |
Het |
Usp31 |
T |
C |
7: 121,258,185 (GRCm39) |
D694G |
probably damaging |
Het |
Wnt3a |
A |
G |
11: 59,147,144 (GRCm39) |
S181P |
probably damaging |
Het |
Yipf3 |
T |
C |
17: 46,559,238 (GRCm39) |
F22S |
possibly damaging |
Het |
Zbtb40 |
A |
T |
4: 136,713,867 (GRCm39) |
H1094Q |
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 |
|
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 |
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'- CGTTATGTTCTGGCTCCACAGGTC -3'
(R):5'- TCCTGCCCTGAGGGATGAGTTAAAG -3'
Sequencing Primer
(F):5'- TCCACAGGTCCCCACTCG -3'
(R):5'- tgagttaaagtatcaacaaacaggg -3'
|
Posted On |
2013-04-16 |