Incidental Mutation 'R7403:Sema3d'
| ID |
574336 |
| 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 |
045485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R7403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
12433352-12638915 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12547551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 158
(I158F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030868]
[ENSMUST00000197927]
|
| AlphaFold |
Q8BH34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030868
AA Change: I158F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030868
Gene: ENSMUSG00000040254
AA Change: I158F
| 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 |
possibly damaging
Transcript: ENSMUST00000197927
AA Change: I158F
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142453
Gene: ENSMUSG00000040254
AA Change: I158F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
G |
A |
10: 83,450,059 (GRCm39) |
A271V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,040,330 (GRCm39) |
T917I |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,537,752 (GRCm39) |
Q143* |
probably null |
Het |
| Cd3e |
C |
A |
9: 44,913,590 (GRCm39) |
E48D |
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,529,259 (GRCm39) |
L805P |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,817,820 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ddx43 |
T |
G |
9: 78,321,133 (GRCm39) |
N380K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,295,285 (GRCm39) |
V155E |
probably damaging |
Het |
| Eif1ad19 |
G |
T |
12: 87,740,314 (GRCm39) |
Q82K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,778,994 (GRCm39) |
C608S |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,959,627 (GRCm39) |
N161S |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,060,475 (GRCm39) |
I276T |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,342,774 (GRCm39) |
L1689P |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,761,401 (GRCm39) |
K210R |
probably benign |
Het |
| Gna14 |
G |
T |
19: 16,576,445 (GRCm39) |
D151Y |
|
Het |
| Hdhd2 |
A |
G |
18: 77,042,736 (GRCm39) |
D55G |
probably benign |
Het |
| Hycc2 |
A |
T |
1: 58,587,861 (GRCm39) |
D117E |
possibly damaging |
Het |
| Ifna5 |
A |
G |
4: 88,754,110 (GRCm39) |
N117D |
probably benign |
Het |
| Il16 |
T |
A |
7: 83,319,343 (GRCm39) |
T383S |
probably damaging |
Het |
| Il36rn |
T |
C |
2: 24,171,214 (GRCm39) |
F101L |
probably damaging |
Het |
| Ino80d |
A |
G |
1: 63,101,378 (GRCm39) |
V416A |
possibly damaging |
Het |
| Ints6 |
T |
C |
14: 62,945,104 (GRCm39) |
R409G |
possibly damaging |
Het |
| Itgb5 |
G |
T |
16: 33,723,163 (GRCm39) |
|
probably null |
Het |
| Itprid1 |
T |
A |
6: 55,953,399 (GRCm39) |
L905* |
probably null |
Het |
| Kcnq3 |
T |
A |
15: 65,874,066 (GRCm39) |
R561W |
probably damaging |
Het |
| Lipo4 |
C |
T |
19: 33,480,679 (GRCm39) |
E230K |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 157,854,311 (GRCm39) |
L1299* |
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,318,657 (GRCm39) |
|
probably null |
Het |
| Mok |
A |
T |
12: 110,781,563 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
A |
2: 152,759,261 (GRCm39) |
V344E |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,870,966 (GRCm39) |
V389A |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
| Or1j8 |
T |
C |
2: 36,192,342 (GRCm39) |
F264L |
probably benign |
Het |
| Or8s5 |
T |
C |
15: 98,238,000 (GRCm39) |
Y290C |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,527,430 (GRCm39) |
N124D |
probably benign |
Het |
| Parp3 |
T |
C |
9: 106,352,052 (GRCm39) |
S107G |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,624,950 (GRCm39) |
G760D |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,087,351 (GRCm39) |
W13* |
probably null |
Het |
| Poglut3 |
T |
A |
9: 53,301,741 (GRCm39) |
V131E |
probably damaging |
Het |
| Pou2f1 |
C |
T |
1: 165,738,955 (GRCm39) |
A166T |
unknown |
Het |
| Ppp1r10 |
C |
T |
17: 36,240,326 (GRCm39) |
P539S |
probably benign |
Het |
| Prdm11 |
T |
C |
2: 92,817,036 (GRCm39) |
T310A |
probably benign |
Het |
| Rbm25 |
A |
G |
12: 83,722,908 (GRCm39) |
Y777C |
probably damaging |
Het |
| Relt |
A |
T |
7: 100,500,655 (GRCm39) |
C72S |
probably damaging |
Het |
| Rhag |
T |
A |
17: 41,145,549 (GRCm39) |
I334N |
probably damaging |
Het |
| Rhbdf2 |
A |
C |
11: 116,491,245 (GRCm39) |
L630R |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,644,061 (GRCm39) |
S274P |
unknown |
Het |
| Rtkn2 |
A |
G |
10: 67,841,466 (GRCm39) |
I205V |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,713,292 (GRCm39) |
V4690E |
probably benign |
Het |
| Secisbp2l |
T |
C |
2: 125,602,199 (GRCm39) |
Y387C |
possibly damaging |
Het |
| Slc17a1 |
A |
G |
13: 24,058,690 (GRCm39) |
N48S |
probably benign |
Het |
| Slc2a1 |
G |
A |
4: 118,989,752 (GRCm39) |
G130S |
probably damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,710,546 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
T |
3: 94,436,233 (GRCm39) |
S261T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,846,691 (GRCm39) |
I72F |
possibly damaging |
Het |
| Spink6 |
T |
G |
18: 44,204,564 (GRCm39) |
L10R |
unknown |
Het |
| Swt1 |
G |
A |
1: 151,264,444 (GRCm39) |
T690I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,962,020 (GRCm39) |
E729K |
not run |
Het |
| Synj2 |
C |
T |
17: 6,088,005 (GRCm39) |
T1352M |
possibly damaging |
Het |
| Taar4 |
G |
A |
10: 23,836,957 (GRCm39) |
G189D |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,964,170 (GRCm39) |
N441D |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,378,640 (GRCm39) |
D248G |
probably benign |
Het |
| Tmem69 |
A |
T |
4: 116,410,664 (GRCm39) |
L102Q |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,464,548 (GRCm39) |
Y98C |
probably damaging |
Het |
| Tspan1 |
A |
G |
4: 116,020,219 (GRCm39) |
V230A |
probably benign |
Het |
| Upk3a |
T |
C |
15: 84,903,709 (GRCm39) |
V136A |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,365,924 (GRCm39) |
N2259K |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,264,232 (GRCm39) |
D1721G |
possibly damaging |
Het |
| Vldlr |
T |
A |
19: 27,213,674 (GRCm39) |
C120* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,538 (GRCm39) |
I149L |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,253,722 (GRCm39) |
E21V |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,062,685 (GRCm39) |
I635V |
probably damaging |
Het |
| Zfp955a |
T |
C |
17: 33,462,720 (GRCm39) |
D58G |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,155,403 (GRCm39) |
Q358R |
probably benign |
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 |
|
|
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 |
|
|
R8155:Sema3d
|
UTSW |
5 |
12,498,148 (GRCm39) |
critical splice donor site |
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'- AATCACCCCTTTAACCACTGTG -3'
(R):5'- AGTGAGTGTCTACATAGAGTCAAG -3'
Sequencing Primer
(F):5'- CGTGCTTTTTAAGTCAAGTGTTC -3'
(R):5'- CACATATCACTAAAAGGGAATGTAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation