Incidental Mutation 'R8980:Sema4g'
| ID |
683710 |
| 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 |
068813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44977540-44991836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44981583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 100
(M100L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026225]
[ENSMUST00000130549]
[ENSMUST00000179305]
|
| AlphaFold |
Q9WUH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026225
AA Change: M100L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000026225
Gene: ENSMUSG00000025207
AA Change: M100L
| 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 |
probably benign
Transcript: ENSMUST00000130549
AA Change: M100L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138321
Gene: ENSMUSG00000025207
AA Change: M100L
| 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 |
probably benign
Transcript: ENSMUST00000179305
AA Change: M100L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137395
Gene: ENSMUSG00000025207
AA Change: M100L
| 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 |
0.0756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
C |
16: 14,278,961 (GRCm39) |
M1090I |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,747,158 (GRCm39) |
V675E |
probably benign |
Het |
| Ano10 |
T |
A |
9: 122,090,558 (GRCm39) |
I252L |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,865,563 (GRCm39) |
Y828C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,873 (GRCm39) |
S40R |
probably damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,200 (GRCm39) |
I181N |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,173,625 (GRCm39) |
Y1621C |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,390 (GRCm39) |
N207K |
probably benign |
Het |
| Clock |
T |
C |
5: 76,402,286 (GRCm39) |
I125V |
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,127,734 (GRCm39) |
H614Q |
probably benign |
Het |
| Gm29106 |
G |
A |
1: 118,127,114 (GRCm39) |
G269R |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,330,689 (GRCm39) |
V108A |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,614,783 (GRCm39) |
C185* |
probably null |
Het |
| Josd2 |
A |
G |
7: 44,117,702 (GRCm39) |
|
probably benign |
Het |
| Krt76 |
C |
T |
15: 101,800,990 (GRCm39) |
G102D |
unknown |
Het |
| Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,423 (GRCm39) |
I46M |
probably damaging |
Het |
| Pramel38 |
T |
C |
5: 94,366,035 (GRCm39) |
L51P |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,360,470 (GRCm39) |
F46I |
probably benign |
Het |
| Prss16 |
C |
T |
13: 22,187,212 (GRCm39) |
V453I |
probably benign |
Het |
| Psd |
A |
G |
19: 46,310,657 (GRCm39) |
L464P |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,119,526 (GRCm39) |
L220P |
probably benign |
Het |
| Rab7 |
A |
T |
6: 87,977,502 (GRCm39) |
V180E |
probably benign |
Het |
| Rc3h1 |
A |
G |
1: 160,782,595 (GRCm39) |
I691M |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,717,087 (GRCm39) |
N198S |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,816,949 (GRCm39) |
S106P |
probably benign |
Het |
| Slc27a5 |
C |
A |
7: 12,725,090 (GRCm39) |
R452S |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,333,761 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
T |
17: 66,862,536 (GRCm39) |
I474N |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,216,157 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,144 (GRCm39) |
V244A |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,010,501 (GRCm39) |
Y580N |
|
Het |
| Zfp1006 |
G |
A |
8: 129,945,680 (GRCm39) |
P382S |
probably damaging |
Het |
| Zfp11 |
T |
A |
5: 129,737,843 (GRCm39) |
M1L |
probably benign |
Het |
| Zfp462 |
TACCACCACCACCACCACCACCA |
TACCACCACCACCACCACCA |
4: 55,009,681 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,803,092 (GRCm39) |
S555P |
probably benign |
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 |
|
R1346:Sema4g
|
UTSW |
19 |
44,986,091 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
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'- TCAATTACCTGGTGACCCGC -3'
(R):5'- AGTTGGAGTCCAAGGGTTACCC -3'
Sequencing Primer
(F):5'- TTCCCGACCTCTGGACAG -3'
(R):5'- GGTTACCCTAAGGCCAGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation