Incidental Mutation 'IGL02988:Slit3'
ID |
453503 |
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: 0.897)
|
Stock # |
IGL02988 (G1)
|
Quality Score |
170 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
35012283-35599334 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35598890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1498
(V1498D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069837]
|
AlphaFold |
Q9WVB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069837
AA Change: V1498D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066857 Gene: ENSMUSG00000056427 AA Change: V1498D
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 |
|
Meta Mutation Damage Score |
0.0910 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
99% (71/72) |
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 |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl4fm5 |
T |
A |
4: 144,513,100 (GRCm39) |
|
probably benign |
Het |
Adgrd1 |
G |
A |
5: 129,221,074 (GRCm39) |
A488T |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,605,355 (GRCm39) |
S284G |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,376,509 (GRCm39) |
V897L |
probably benign |
Het |
Arl6 |
T |
A |
16: 59,434,209 (GRCm39) |
|
probably null |
Het |
Blnk |
G |
A |
19: 40,917,660 (GRCm39) |
T441M |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,644,590 (GRCm39) |
T1221I |
probably benign |
Het |
Cbll1 |
A |
T |
12: 31,542,171 (GRCm39) |
F63L |
possibly damaging |
Het |
Cdk14 |
A |
G |
5: 5,086,484 (GRCm39) |
Y279H |
probably damaging |
Het |
Cflar |
A |
T |
1: 58,780,190 (GRCm39) |
I265F |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
A |
T |
5: 137,897,272 (GRCm39) |
Y347* |
probably null |
Het |
Defa27 |
T |
C |
8: 21,805,583 (GRCm39) |
S8P |
probably damaging |
Het |
Depdc5 |
A |
C |
5: 33,113,511 (GRCm39) |
|
probably null |
Het |
Dlg5 |
A |
G |
14: 24,216,323 (GRCm39) |
F573S |
probably damaging |
Het |
Fam20c |
A |
T |
5: 138,741,749 (GRCm39) |
E120V |
probably benign |
Het |
Fam53a |
T |
C |
5: 33,764,819 (GRCm39) |
K296E |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,972,355 (GRCm39) |
T1526A |
possibly damaging |
Het |
Gm14325 |
A |
C |
2: 177,476,042 (GRCm39) |
|
probably null |
Het |
Gm7582 |
G |
A |
1: 85,019,588 (GRCm39) |
|
noncoding transcript |
Het |
Golga7b |
A |
C |
19: 42,255,239 (GRCm39) |
Y63S |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,334,729 (GRCm39) |
L14P |
unknown |
Het |
Hsd17b3 |
A |
C |
13: 64,236,914 (GRCm39) |
L10R |
probably damaging |
Het |
Il6st |
T |
C |
13: 112,635,420 (GRCm39) |
F611L |
probably damaging |
Het |
Ints13 |
T |
A |
6: 146,457,646 (GRCm39) |
T411S |
possibly damaging |
Het |
Kif18b |
C |
A |
11: 102,799,146 (GRCm39) |
C685F |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,509,729 (GRCm39) |
N19S |
probably damaging |
Het |
Lmbr1 |
G |
T |
5: 29,497,221 (GRCm39) |
|
probably null |
Het |
Minar1 |
A |
G |
9: 89,484,792 (GRCm39) |
S202P |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrc2 |
G |
A |
11: 105,216,397 (GRCm39) |
R62Q |
probably benign |
Het |
Myo1g |
T |
C |
11: 6,458,183 (GRCm39) |
|
probably benign |
Het |
Myo5a |
A |
T |
9: 75,037,423 (GRCm39) |
|
probably benign |
Het |
Nobox |
G |
A |
6: 43,282,095 (GRCm39) |
S326L |
possibly damaging |
Het |
Nsl1 |
C |
A |
1: 190,795,300 (GRCm39) |
S22* |
probably null |
Het |
Or5b3 |
A |
C |
19: 13,388,826 (GRCm39) |
K298Q |
possibly damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,823 (GRCm39) |
I221T |
probably damaging |
Het |
Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
Pkd2 |
A |
T |
5: 104,651,471 (GRCm39) |
R940* |
probably null |
Het |
Plcd3 |
T |
A |
11: 102,967,568 (GRCm39) |
Q458L |
probably benign |
Het |
Polm |
T |
A |
11: 5,786,343 (GRCm39) |
T75S |
probably benign |
Het |
Pon3 |
T |
A |
6: 5,232,330 (GRCm39) |
D230V |
possibly damaging |
Het |
Pxdn |
A |
T |
12: 30,053,113 (GRCm39) |
K917* |
probably null |
Het |
Rad54l2 |
A |
G |
9: 106,577,784 (GRCm39) |
S1046P |
probably benign |
Het |
Rb1cc1 |
T |
C |
1: 6,318,035 (GRCm39) |
|
probably null |
Het |
Rnf215 |
A |
G |
11: 4,086,785 (GRCm39) |
E194G |
probably damaging |
Het |
Rorb |
A |
T |
19: 18,915,336 (GRCm39) |
F441I |
probably damaging |
Het |
Sel1l2 |
C |
A |
2: 140,090,508 (GRCm39) |
G378V |
probably damaging |
Het |
Sema6a |
G |
T |
18: 47,431,281 (GRCm39) |
A139D |
probably damaging |
Het |
Serpinb3d |
A |
T |
1: 107,006,266 (GRCm39) |
M274K |
probably benign |
Het |
Siglec15 |
A |
C |
18: 78,092,462 (GRCm39) |
L32R |
probably damaging |
Het |
Siglecg |
A |
T |
7: 43,067,476 (GRCm39) |
D681V |
probably damaging |
Het |
Slc6a13 |
G |
T |
6: 121,303,066 (GRCm39) |
|
probably benign |
Het |
Slc9b2 |
G |
T |
3: 135,024,179 (GRCm39) |
A77S |
probably benign |
Het |
Snorc |
A |
G |
1: 87,402,926 (GRCm39) |
|
probably null |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,683,267 (GRCm39) |
|
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,042,773 (GRCm39) |
S482P |
possibly damaging |
Het |
Tec |
A |
G |
5: 72,926,090 (GRCm39) |
S321P |
possibly damaging |
Het |
Tenm3 |
A |
G |
8: 48,688,381 (GRCm39) |
M2402T |
probably damaging |
Het |
Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
Tm4sf1 |
A |
T |
3: 57,200,537 (GRCm39) |
|
probably null |
Het |
Tmcc1 |
T |
C |
6: 116,019,889 (GRCm39) |
E306G |
probably damaging |
Het |
Traf3ip3 |
A |
T |
1: 192,877,182 (GRCm39) |
|
probably null |
Het |
Utf1 |
C |
T |
7: 139,523,875 (GRCm39) |
P30L |
possibly damaging |
Het |
Wdfy3 |
A |
T |
5: 102,077,847 (GRCm39) |
C880S |
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 |
|
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 |
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'- ACAGTTATCTCCTGGGAGCC -3'
(R):5'- CCTTCGTTCTGAATCTCAAAGAGG -3'
Sequencing Primer
(F):5'- TTACCACCAGAGTCCTAACATTATC -3'
(R):5'- ATCTCAAAGAGGTTCCATGTGGC -3'
|
Posted On |
2017-02-08 |