Incidental Mutation 'R1346:Sema4g'
| ID |
156526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema4g
|
| Ensembl Gene |
ENSMUSG00000025207 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G |
| Synonyms |
|
| MMRRC Submission |
039411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44977540-44991836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44986091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 311
(S311T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026225]
[ENSMUST00000130549]
[ENSMUST00000179305]
|
| AlphaFold |
Q9WUH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026225
AA Change: S311T
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: S311T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130549
AA Change: S311T
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: S311T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179305
AA Change: S311T
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: S311T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Sema
|
56 |
487 |
2.38e-165 |
SMART |
|
PSI
|
505 |
556 |
6.59e-13 |
SMART |
|
IG
|
567 |
649 |
6.26e-5 |
SMART |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
677 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
713 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
774 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1192 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit normal cerebellar morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
| Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
| Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
| Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
| Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
| Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
| Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
| Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
| Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
| Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
| Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
| Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
| Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
Het |
|
| Other mutations in Sema4g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01414:Sema4g
|
APN |
19 |
44,986,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01419:Sema4g
|
APN |
19 |
44,985,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02033:Sema4g
|
APN |
19 |
44,985,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02092:Sema4g
|
APN |
19 |
44,981,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02148:Sema4g
|
APN |
19 |
44,984,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02829:Sema4g
|
APN |
19 |
44,981,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02837:Sema4g
|
UTSW |
19 |
44,985,150 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0550:Sema4g
|
UTSW |
19 |
44,986,104 (GRCm39) |
missense |
probably benign |
|
|
R0675:Sema4g
|
UTSW |
19 |
44,986,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Sema4g
|
UTSW |
19 |
44,986,696 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1533:Sema4g
|
UTSW |
19 |
44,981,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Sema4g
|
UTSW |
19 |
44,990,044 (GRCm39) |
nonsense |
probably null |
|
|
R1775:Sema4g
|
UTSW |
19 |
44,987,681 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1803:Sema4g
|
UTSW |
19 |
44,986,459 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1832:Sema4g
|
UTSW |
19 |
44,987,456 (GRCm39) |
missense |
probably benign |
|
|
R1909:Sema4g
|
UTSW |
19 |
44,986,061 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4035:Sema4g
|
UTSW |
19 |
44,989,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4131:Sema4g
|
UTSW |
19 |
44,987,358 (GRCm39) |
missense |
probably benign |
|
|
R4611:Sema4g
|
UTSW |
19 |
44,990,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Sema4g
|
UTSW |
19 |
44,985,010 (GRCm39) |
splice site |
probably null |
|
|
R5921:Sema4g
|
UTSW |
19 |
44,987,143 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7573:Sema4g
|
UTSW |
19 |
44,986,010 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8099:Sema4g
|
UTSW |
19 |
44,980,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Sema4g
|
UTSW |
19 |
44,987,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Sema4g
|
UTSW |
19 |
44,986,866 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8980:Sema4g
|
UTSW |
19 |
44,981,583 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9158:Sema4g
|
UTSW |
19 |
44,986,846 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9487:Sema4g
|
UTSW |
19 |
44,981,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0011:Sema4g
|
UTSW |
19 |
44,987,308 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Sema4g
|
UTSW |
19 |
44,990,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sema4g
|
UTSW |
19 |
44,986,486 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGGTGCATATGATGCAGTCAG -3'
(R):5'- TGGAACCACTTTACCACGGTCCAG -3'
Sequencing Primer
(F):5'- CATATGATGCAGTCAGGGTATGG -3'
(R):5'- AGTGGACCACAATGTCCTCTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation