Incidental Mutation 'R7067:Slit3'
| ID |
548647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slit3
|
| Ensembl Gene |
ENSMUSG00000056427 |
| Gene Name |
slit guidance ligand 3 |
| Synonyms |
Slit1, b2b2362.1Clo |
| MMRRC Submission |
045163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R7067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
35012283-35599334 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35399057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 141
(S141G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069837]
|
| AlphaFold |
Q9WVB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069837
AA Change: S141G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: S141G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,921 (GRCm39) |
S72C |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,845 (GRCm39) |
D1236G |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,668,114 (GRCm39) |
N165D |
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,816,431 (GRCm39) |
|
probably null |
Het |
| Afg2a |
C |
T |
3: 37,485,847 (GRCm39) |
Q190* |
probably null |
Het |
| Anapc4 |
A |
G |
5: 53,019,577 (GRCm39) |
T580A |
probably benign |
Het |
| Apob |
T |
C |
12: 8,059,423 (GRCm39) |
I2602T |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,811,387 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,968,673 (GRCm39) |
|
probably null |
Het |
| Bend4 |
A |
G |
5: 67,557,611 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,873 (GRCm39) |
Y261C |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,167,489 (GRCm39) |
N271S |
probably benign |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,694 (GRCm39) |
W233R |
probably damaging |
Het |
| Cyp2u1 |
G |
A |
3: 131,087,202 (GRCm39) |
L460F |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 162,148,540 (GRCm39) |
L277P |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,817,926 (GRCm39) |
N135I |
probably damaging |
Het |
| Elapor2 |
G |
T |
5: 9,316,295 (GRCm39) |
A9S |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,078 (GRCm39) |
S2466T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,802,447 (GRCm39) |
A276V |
possibly damaging |
Het |
| Gm47985 |
A |
T |
1: 151,059,241 (GRCm39) |
D294V |
unknown |
Het |
| Golga1 |
A |
T |
2: 38,937,731 (GRCm39) |
D104E |
probably benign |
Het |
| Hnrnpr |
C |
T |
4: 136,054,704 (GRCm39) |
A219V |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,399,888 (GRCm39) |
|
probably null |
Het |
| Hspa8 |
T |
C |
9: 40,715,921 (GRCm39) |
I562T |
probably damaging |
Het |
| Htra4 |
C |
T |
8: 25,523,717 (GRCm39) |
V283M |
probably damaging |
Het |
| Il36rn |
C |
T |
2: 24,167,541 (GRCm39) |
R11* |
probably null |
Het |
| Iqcd |
A |
G |
5: 120,743,212 (GRCm39) |
T325A |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,832,271 (GRCm39) |
M624K |
probably benign |
Het |
| Krt25 |
G |
T |
11: 99,208,209 (GRCm39) |
Q340K |
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,518,413 (GRCm39) |
N275Y |
probably damaging |
Het |
| Lpin2 |
A |
C |
17: 71,551,853 (GRCm39) |
K789T |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,929,986 (GRCm39) |
I24T |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,569,547 (GRCm39) |
I991F |
unknown |
Het |
| Ntf5 |
T |
A |
7: 45,065,048 (GRCm39) |
L60Q |
probably damaging |
Het |
| Nuak1 |
A |
G |
10: 84,276,158 (GRCm39) |
S22P |
possibly damaging |
Het |
| Obox8 |
T |
C |
7: 14,066,979 (GRCm39) |
T22A |
possibly damaging |
Het |
| Or8k21 |
T |
A |
2: 86,144,911 (GRCm39) |
T240S |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,967,074 (GRCm39) |
V405A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,640,934 (GRCm39) |
S147P |
probably benign |
Het |
| Pole |
G |
T |
5: 110,482,084 (GRCm39) |
G142V |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,488 (GRCm39) |
Q508* |
probably null |
Het |
| Repin1 |
T |
A |
6: 48,574,850 (GRCm39) |
L537* |
probably null |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,529 (GRCm39) |
|
probably null |
Het |
| Spon2 |
A |
G |
5: 33,371,958 (GRCm39) |
S283P |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,734,266 (GRCm39) |
|
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,694,019 (GRCm39) |
D89G |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,184,586 (GRCm39) |
I4099T |
probably damaging |
Het |
| Syt5 |
T |
C |
7: 4,546,075 (GRCm39) |
D105G |
probably benign |
Het |
| Tlx3 |
C |
T |
11: 33,153,204 (GRCm39) |
G86S |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,775 (GRCm39) |
|
probably null |
Het |
| Umodl1 |
G |
A |
17: 31,201,246 (GRCm39) |
V392I |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,685,731 (GRCm39) |
T2285K |
possibly damaging |
Het |
| Vars1 |
G |
A |
17: 35,230,455 (GRCm39) |
V513I |
probably damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,849 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,302 (GRCm39) |
I714V |
probably benign |
Het |
| Xbp1 |
T |
A |
11: 5,474,275 (GRCm39) |
S159T |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,851,565 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zc3h4 |
A |
T |
7: 16,162,976 (GRCm39) |
K459* |
probably null |
Het |
| Zdhhc6 |
G |
A |
19: 55,292,871 (GRCm39) |
R292* |
probably null |
Het |
| Zfp383 |
T |
A |
7: 29,608,071 (GRCm39) |
M1K |
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
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 |
|
|
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'- TGTGCAGGCTTGTAACAGC -3'
(R):5'- ACCCTTGGAGAAGCTAGCTG -3'
Sequencing Primer
(F):5'- CAGGCTTGTAACAGCCAGGG -3'
(R):5'- TTGGAGAAGCTAGCTGGCACC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation