Incidental Mutation 'R5618:Sema7a'
| ID |
439647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema7a
|
| Ensembl Gene |
ENSMUSG00000038264 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A |
| Synonyms |
Semal, Semaphorin K1, CDw108, 2900057C09Rik |
| MMRRC Submission |
043277-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R5618 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57847395-57870148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57867566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 439
(E439D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043059]
|
| AlphaFold |
Q9QUR8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043059
AA Change: E439D
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: E439D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
44 |
N/A |
INTRINSIC |
|
Sema
|
72 |
472 |
4.11e-119 |
SMART |
|
PSI
|
490 |
540 |
7.64e-9 |
SMART |
|
IG
|
549 |
630 |
3.63e-1 |
SMART |
|
transmembrane domain
|
644 |
663 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: The development of the olfactory tract is impaired in homozygous null mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
G |
A |
5: 107,696,065 (GRCm39) |
W167* |
probably null |
Het |
| Acvr1 |
C |
T |
2: 58,352,955 (GRCm39) |
R335Q |
probably damaging |
Het |
| Atg7 |
A |
G |
6: 114,650,660 (GRCm39) |
D67G |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,846,446 (GRCm39) |
F417S |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,502,000 (GRCm39) |
L702Q |
probably damaging |
Het |
| Bcl7a |
A |
T |
5: 123,499,265 (GRCm39) |
N95Y |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,973,031 (GRCm39) |
D454G |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,887,249 (GRCm39) |
Q1226H |
probably benign |
Het |
| Cct5 |
A |
G |
15: 31,598,161 (GRCm39) |
S13P |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,710,738 (GRCm39) |
E822K |
probably benign |
Het |
| Csgalnact2 |
A |
T |
6: 118,103,277 (GRCm39) |
D228E |
probably damaging |
Het |
| Defb12 |
A |
T |
8: 19,164,814 (GRCm39) |
M8K |
possibly damaging |
Het |
| Dipk1b |
T |
C |
2: 26,524,887 (GRCm39) |
S96P |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,083,806 (GRCm39) |
D736G |
probably benign |
Het |
| Exog |
G |
T |
9: 119,291,817 (GRCm39) |
D365Y |
probably damaging |
Het |
| Fam222b |
T |
G |
11: 78,045,066 (GRCm39) |
V81G |
probably benign |
Het |
| Fbl |
A |
G |
7: 27,878,411 (GRCm39) |
E301G |
probably damaging |
Het |
| Fez1 |
A |
T |
9: 36,755,228 (GRCm39) |
N76Y |
probably damaging |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,598,901 (GRCm39) |
F57Y |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,718,965 (GRCm39) |
I650T |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,354,346 (GRCm39) |
D231E |
possibly damaging |
Het |
| Lig4 |
A |
T |
8: 10,022,021 (GRCm39) |
D586E |
probably benign |
Het |
| Mlc1 |
C |
A |
15: 88,858,769 (GRCm39) |
L126F |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,253 (GRCm38) |
T1376A |
probably benign |
Het |
| Ncoa6 |
A |
T |
2: 155,279,817 (GRCm39) |
D66E |
possibly damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,742,185 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8b44 |
C |
T |
9: 38,410,036 (GRCm39) |
Q24* |
probably null |
Het |
| Pard6a |
T |
C |
8: 106,429,546 (GRCm39) |
V168A |
probably damaging |
Het |
| Pmpcb |
A |
G |
5: 21,947,786 (GRCm39) |
N163S |
possibly damaging |
Het |
| Pramel27 |
A |
T |
4: 143,577,263 (GRCm39) |
E15V |
possibly damaging |
Het |
| Prdm2 |
C |
T |
4: 142,860,107 (GRCm39) |
C1061Y |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,627,476 (GRCm39) |
Y3378C |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,415,015 (GRCm39) |
V425E |
probably damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,301,010 (GRCm39) |
T402S |
possibly damaging |
Het |
| Sf3a2 |
T |
C |
10: 80,640,410 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,321,545 (GRCm39) |
S1346T |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,762,722 (GRCm39) |
D172E |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,194,906 (GRCm39) |
I71S |
probably benign |
Het |
| Spata31d1d |
G |
A |
13: 59,874,214 (GRCm39) |
A1107V |
probably benign |
Het |
| Svep1 |
A |
C |
4: 58,070,537 (GRCm39) |
S2416R |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,969,221 (GRCm39) |
Y503C |
probably damaging |
Het |
| Tlr9 |
A |
T |
9: 106,101,938 (GRCm39) |
I410F |
possibly damaging |
Het |
| Tmem87a |
C |
A |
2: 120,199,787 (GRCm39) |
L452F |
probably benign |
Het |
| Tmprss11d |
A |
T |
5: 86,454,154 (GRCm39) |
M217K |
probably benign |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,755 (GRCm39) |
Y36H |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,315,817 (GRCm39) |
F83Y |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,554,388 (GRCm39) |
R75H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,863 (GRCm39) |
Y242N |
possibly damaging |
Het |
| Zfp473 |
T |
A |
7: 44,391,156 (GRCm39) |
D6V |
probably benign |
Het |
|
| Other mutations in Sema7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Sema7a
|
APN |
9 |
57,863,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01967:Sema7a
|
APN |
9 |
57,863,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02030:Sema7a
|
APN |
9 |
57,862,423 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02031:Sema7a
|
APN |
9 |
57,862,423 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02115:Sema7a
|
APN |
9 |
57,868,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Sema7a
|
APN |
9 |
57,864,889 (GRCm39) |
missense |
probably benign |
|
|
IGL02808:Sema7a
|
APN |
9 |
57,867,631 (GRCm39) |
missense |
probably benign |
0.25 |
|
G1citation:Sema7a
|
UTSW |
9 |
57,867,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Sema7a
|
UTSW |
9 |
57,867,876 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1603:Sema7a
|
UTSW |
9 |
57,867,959 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1845:Sema7a
|
UTSW |
9 |
57,862,182 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4598:Sema7a
|
UTSW |
9 |
57,860,834 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4903:Sema7a
|
UTSW |
9 |
57,862,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4954:Sema7a
|
UTSW |
9 |
57,863,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5172:Sema7a
|
UTSW |
9 |
57,864,961 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5514:Sema7a
|
UTSW |
9 |
57,863,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Sema7a
|
UTSW |
9 |
57,867,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Sema7a
|
UTSW |
9 |
57,867,540 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6365:Sema7a
|
UTSW |
9 |
57,862,188 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6736:Sema7a
|
UTSW |
9 |
57,867,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6822:Sema7a
|
UTSW |
9 |
57,867,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6829:Sema7a
|
UTSW |
9 |
57,868,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7380:Sema7a
|
UTSW |
9 |
57,868,847 (GRCm39) |
missense |
unknown |
|
|
R7381:Sema7a
|
UTSW |
9 |
57,860,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7467:Sema7a
|
UTSW |
9 |
57,868,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Sema7a
|
UTSW |
9 |
57,867,858 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7601:Sema7a
|
UTSW |
9 |
57,847,560 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7879:Sema7a
|
UTSW |
9 |
57,862,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8360:Sema7a
|
UTSW |
9 |
57,862,974 (GRCm39) |
unclassified |
probably benign |
|
|
R9236:Sema7a
|
UTSW |
9 |
57,862,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9467:Sema7a
|
UTSW |
9 |
57,864,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Sema7a
|
UTSW |
9 |
57,862,188 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGTCAGCTGTCCTCAC -3'
(R):5'- AGAAGGAACTCTGCCACCCTAG -3'
Sequencing Primer
(F):5'- GTCAGCTGTCCTCACCCCAC -3'
(R):5'- CTTGAAAGGACATGCAAACTGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation