Incidental Mutation 'R8155:Sema3d'
ID |
633249 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sema3d
|
Ensembl Gene |
ENSMUSG00000040254 |
Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D |
Synonyms |
4631426B19Rik |
MMRRC Submission |
067581-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.188)
|
Stock # |
R8155 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
12433352-12638915 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 12498148 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030868
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030868]
[ENSMUST00000197927]
|
AlphaFold |
Q8BH34 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030868
|
SMART Domains |
Protein: ENSMUSP00000030868 Gene: ENSMUSG00000040254
Domain | Start | End | E-Value | Type |
transmembrane domain
|
16 |
35 |
N/A |
INTRINSIC |
Sema
|
70 |
515 |
2.97e-207 |
SMART |
PSI
|
533 |
585 |
2.03e-13 |
SMART |
IG
|
598 |
682 |
1.39e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000197927
|
SMART Domains |
Protein: ENSMUSP00000142453 Gene: ENSMUSG00000040254
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
Sema
|
70 |
515 |
1e-209 |
SMART |
PSI
|
533 |
585 |
8.5e-16 |
SMART |
Blast:Sema
|
590 |
622 |
1e-9 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
Validation Efficiency |
100% (62/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit pulmonary vein connection to the right atrium and atrial septal defect. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,330,497 (GRCm39) |
T1386I |
probably damaging |
Het |
Abcb6 |
A |
T |
1: 75,151,413 (GRCm39) |
V504E |
probably damaging |
Het |
Abtb3 |
G |
A |
10: 85,476,473 (GRCm39) |
|
probably null |
Het |
Adprhl1 |
C |
T |
8: 13,271,764 (GRCm39) |
A1665T |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,093,196 (GRCm39) |
L183H |
probably damaging |
Het |
Arhgef12 |
A |
G |
9: 42,953,958 (GRCm39) |
L24S |
probably damaging |
Het |
B3gnt4 |
C |
T |
5: 123,649,426 (GRCm39) |
H264Y |
possibly damaging |
Het |
Cfi |
A |
G |
3: 129,648,739 (GRCm39) |
T208A |
probably benign |
Het |
Chd4 |
T |
A |
6: 125,082,287 (GRCm39) |
F605Y |
probably benign |
Het |
Cimap1d |
A |
T |
10: 79,481,466 (GRCm39) |
V21E |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,751,699 (GRCm39) |
L694P |
|
Het |
Crybb3 |
A |
T |
5: 113,225,466 (GRCm39) |
D135E |
probably damaging |
Het |
Ddx60 |
T |
A |
8: 62,470,205 (GRCm39) |
S1398T |
possibly damaging |
Het |
Dusp5 |
T |
A |
19: 53,529,537 (GRCm39) |
Y313* |
probably null |
Het |
Eloa |
A |
G |
4: 135,734,438 (GRCm39) |
V689A |
probably benign |
Het |
Ep300 |
T |
A |
15: 81,505,269 (GRCm39) |
Y630N |
unknown |
Het |
Galnt5 |
A |
T |
2: 57,889,427 (GRCm39) |
K342N |
probably benign |
Het |
Gm4841 |
A |
G |
18: 60,403,409 (GRCm39) |
V228A |
probably damaging |
Het |
Gna14 |
A |
T |
19: 16,576,338 (GRCm39) |
D115V |
probably benign |
Het |
Gpx5 |
T |
C |
13: 21,472,917 (GRCm39) |
D139G |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,480,705 (GRCm39) |
N4490K |
probably damaging |
Het |
Hsp90aa1 |
T |
C |
12: 110,661,828 (GRCm39) |
S63G |
unknown |
Het |
Itpkb |
T |
C |
1: 180,159,913 (GRCm39) |
I13T |
possibly damaging |
Het |
Itprid2 |
T |
C |
2: 79,475,177 (GRCm39) |
S379P |
probably benign |
Het |
Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
Ldha |
A |
G |
7: 46,503,508 (GRCm39) |
H300R |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,313,342 (GRCm39) |
L2463P |
possibly damaging |
Het |
Morf4l1 |
A |
G |
9: 89,977,225 (GRCm39) |
I232T |
probably damaging |
Het |
Mtg1 |
A |
G |
7: 139,724,622 (GRCm39) |
H166R |
probably benign |
Het |
Or14a260 |
A |
G |
7: 85,985,386 (GRCm39) |
S73P |
probably damaging |
Het |
Or2ad1 |
A |
G |
13: 21,327,062 (GRCm39) |
L55P |
probably damaging |
Het |
Or52r1 |
C |
T |
7: 102,536,452 (GRCm39) |
D303N |
probably benign |
Het |
Or5d46 |
A |
G |
2: 88,170,296 (GRCm39) |
N129S |
probably damaging |
Het |
Or6d12 |
T |
A |
6: 116,492,813 (GRCm39) |
V25E |
probably benign |
Het |
Or7g32 |
A |
T |
9: 19,389,453 (GRCm39) |
V31D |
probably benign |
Het |
Papss2 |
A |
G |
19: 32,618,742 (GRCm39) |
T267A |
probably benign |
Het |
Park7 |
G |
A |
4: 150,991,547 (GRCm39) |
R48C |
possibly damaging |
Het |
Pecr |
A |
G |
1: 72,309,443 (GRCm39) |
V199A |
probably damaging |
Het |
Pla2g10 |
G |
A |
16: 13,543,048 (GRCm39) |
R80W |
probably damaging |
Het |
Plek2 |
G |
A |
12: 78,943,066 (GRCm39) |
R77* |
probably null |
Het |
Psg23 |
A |
G |
7: 18,346,179 (GRCm39) |
L172P |
probably damaging |
Het |
Psg25 |
A |
C |
7: 18,260,445 (GRCm39) |
F151C |
probably benign |
Het |
Ptpn3 |
G |
T |
4: 57,232,336 (GRCm39) |
H433Q |
probably benign |
Het |
Rasal3 |
A |
G |
17: 32,616,381 (GRCm39) |
V294A |
possibly damaging |
Het |
Rnf6 |
T |
C |
5: 146,147,815 (GRCm39) |
D401G |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Serpinb1c |
A |
T |
13: 33,081,038 (GRCm39) |
L15Q |
probably damaging |
Het |
Slfn3 |
T |
A |
11: 83,103,611 (GRCm39) |
Y161N |
probably damaging |
Het |
Spns2 |
T |
C |
11: 72,347,394 (GRCm39) |
M404V |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,097,410 (GRCm39) |
I479L |
probably damaging |
Het |
Tbx15 |
C |
A |
3: 99,259,886 (GRCm39) |
Q586K |
possibly damaging |
Het |
Thap11 |
C |
T |
8: 106,582,854 (GRCm39) |
R288* |
probably null |
Het |
Tm7sf2 |
T |
A |
19: 6,114,125 (GRCm39) |
D236V |
probably damaging |
Het |
Tmem214 |
T |
C |
5: 31,029,136 (GRCm39) |
S192P |
possibly damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,880,439 (GRCm39) |
S543P |
possibly damaging |
Het |
Traf3ip3 |
A |
G |
1: 192,860,524 (GRCm39) |
L466P |
probably damaging |
Het |
Tspan18 |
C |
T |
2: 93,040,357 (GRCm39) |
|
probably null |
Het |
Vmn1r229 |
T |
A |
17: 21,035,472 (GRCm39) |
L239Q |
probably damaging |
Het |
Vsig2 |
T |
C |
9: 37,455,329 (GRCm39) |
V293A |
possibly damaging |
Het |
Wdfy4 |
A |
T |
14: 32,884,776 (GRCm39) |
V42D |
|
Het |
Wnk2 |
G |
A |
13: 49,192,577 (GRCm39) |
P2055S |
unknown |
Het |
Zfp953 |
C |
A |
13: 67,491,535 (GRCm39) |
C139F |
probably damaging |
Het |
|
Other mutations in Sema3d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00559:Sema3d
|
APN |
5 |
12,613,189 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00582:Sema3d
|
APN |
5 |
12,635,162 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00661:Sema3d
|
APN |
5 |
12,555,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00780:Sema3d
|
APN |
5 |
12,574,293 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01531:Sema3d
|
APN |
5 |
12,591,047 (GRCm39) |
missense |
probably benign |
|
IGL01957:Sema3d
|
APN |
5 |
12,613,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Sema3d
|
APN |
5 |
12,634,958 (GRCm39) |
missense |
probably benign |
0.29 |
IGL02676:Sema3d
|
APN |
5 |
12,620,945 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02749:Sema3d
|
APN |
5 |
12,613,112 (GRCm39) |
splice site |
probably benign |
|
IGL02827:Sema3d
|
APN |
5 |
12,635,085 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03325:Sema3d
|
APN |
5 |
12,513,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:Sema3d
|
UTSW |
5 |
12,634,920 (GRCm39) |
missense |
probably benign |
0.00 |
R0085:Sema3d
|
UTSW |
5 |
12,620,953 (GRCm39) |
missense |
probably benign |
0.00 |
R0095:Sema3d
|
UTSW |
5 |
12,613,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R0157:Sema3d
|
UTSW |
5 |
12,558,104 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0328:Sema3d
|
UTSW |
5 |
12,498,042 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0924:Sema3d
|
UTSW |
5 |
12,513,183 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0930:Sema3d
|
UTSW |
5 |
12,513,183 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1609:Sema3d
|
UTSW |
5 |
12,591,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R1657:Sema3d
|
UTSW |
5 |
12,634,941 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1669:Sema3d
|
UTSW |
5 |
12,558,051 (GRCm39) |
splice site |
probably benign |
|
R1795:Sema3d
|
UTSW |
5 |
12,634,854 (GRCm39) |
missense |
probably benign |
0.02 |
R1861:Sema3d
|
UTSW |
5 |
12,547,570 (GRCm39) |
missense |
probably benign |
0.00 |
R1889:Sema3d
|
UTSW |
5 |
12,534,988 (GRCm39) |
splice site |
probably null |
|
R1895:Sema3d
|
UTSW |
5 |
12,623,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R1946:Sema3d
|
UTSW |
5 |
12,623,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R1975:Sema3d
|
UTSW |
5 |
12,634,965 (GRCm39) |
missense |
probably benign |
|
R1975:Sema3d
|
UTSW |
5 |
12,613,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R2117:Sema3d
|
UTSW |
5 |
12,613,240 (GRCm39) |
missense |
probably benign |
|
R2148:Sema3d
|
UTSW |
5 |
12,534,926 (GRCm39) |
missense |
probably damaging |
0.99 |
R2276:Sema3d
|
UTSW |
5 |
12,592,549 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3761:Sema3d
|
UTSW |
5 |
12,621,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R4063:Sema3d
|
UTSW |
5 |
12,635,091 (GRCm39) |
missense |
probably benign |
0.25 |
R4428:Sema3d
|
UTSW |
5 |
12,498,087 (GRCm39) |
missense |
probably benign |
0.32 |
R4903:Sema3d
|
UTSW |
5 |
12,613,125 (GRCm39) |
missense |
probably benign |
0.00 |
R4999:Sema3d
|
UTSW |
5 |
12,558,054 (GRCm39) |
splice site |
probably null |
|
R5000:Sema3d
|
UTSW |
5 |
12,498,005 (GRCm39) |
missense |
probably benign |
0.01 |
R5022:Sema3d
|
UTSW |
5 |
12,634,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Sema3d
|
UTSW |
5 |
12,634,875 (GRCm39) |
missense |
probably benign |
|
R5584:Sema3d
|
UTSW |
5 |
12,620,954 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5584:Sema3d
|
UTSW |
5 |
12,615,975 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6270:Sema3d
|
UTSW |
5 |
12,498,074 (GRCm39) |
missense |
probably benign |
|
R6368:Sema3d
|
UTSW |
5 |
12,620,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R6426:Sema3d
|
UTSW |
5 |
12,613,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Sema3d
|
UTSW |
5 |
12,635,067 (GRCm39) |
nonsense |
probably null |
|
R7403:Sema3d
|
UTSW |
5 |
12,547,551 (GRCm39) |
missense |
probably damaging |
0.97 |
R7450:Sema3d
|
UTSW |
5 |
12,634,901 (GRCm39) |
nonsense |
probably null |
|
R7470:Sema3d
|
UTSW |
5 |
12,558,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R7548:Sema3d
|
UTSW |
5 |
12,627,783 (GRCm39) |
missense |
unknown |
|
R7593:Sema3d
|
UTSW |
5 |
12,558,112 (GRCm39) |
missense |
probably benign |
0.02 |
R7683:Sema3d
|
UTSW |
5 |
12,623,823 (GRCm39) |
nonsense |
probably null |
|
R8442:Sema3d
|
UTSW |
5 |
12,592,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R8725:Sema3d
|
UTSW |
5 |
12,555,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R8754:Sema3d
|
UTSW |
5 |
12,603,191 (GRCm39) |
critical splice donor site |
probably null |
|
R9293:Sema3d
|
UTSW |
5 |
12,603,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R9771:Sema3d
|
UTSW |
5 |
12,613,207 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Sema3d
|
UTSW |
5 |
12,635,026 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCATTAAGGGTGAACTAACAG -3'
(R):5'- TCTCAGCTATTGTAGACTGTGAAAC -3'
Sequencing Primer
(F):5'- CATTAAGGGTGAACTAACAGTGTTTG -3'
(R):5'- GACTGTGAAACATTTTAGGTT -3'
|
Posted On |
2020-06-30 |