Incidental Mutation 'IGL02584:Sema4b'
| ID |
299482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sema4b
|
| Ensembl Gene |
ENSMUSG00000030539 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B |
| Synonyms |
SemC, Semac |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
IGL02584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79836589-79876275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79874736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 709
(T709A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032754]
[ENSMUST00000065163]
[ENSMUST00000071457]
[ENSMUST00000123279]
[ENSMUST00000205822]
[ENSMUST00000206802]
[ENSMUST00000205996]
[ENSMUST00000206084]
|
| AlphaFold |
Q62179 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032754
AA Change: T709A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: T709A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Sema
|
57 |
494 |
8.07e-177 |
SMART |
|
PSI
|
512 |
582 |
4.7e-9 |
SMART |
|
low complexity region
|
626 |
639 |
N/A |
INTRINSIC |
|
transmembrane domain
|
701 |
723 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065163
|
| SMART Domains |
Protein: ENSMUSP00000070901
Gene: ENSMUSG00000030538
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
100 |
N/A |
INTRINSIC |
|
EFh
|
107 |
135 |
4.4e0 |
SMART |
|
EFh
|
152 |
180 |
1.17e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071457
|
| SMART Domains |
Protein: ENSMUSP00000071401
Gene: ENSMUSG00000030538
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
52 |
N/A |
INTRINSIC |
|
EFh
|
59 |
87 |
4.4e0 |
SMART |
|
EFh
|
104 |
132 |
1.17e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107383
|
| SMART Domains |
Protein: ENSMUSP00000103006
Gene: ENSMUSG00000030539
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Sema
|
57 |
494 |
8.07e-177 |
SMART |
|
PSI
|
512 |
550 |
2.68e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123279
|
| SMART Domains |
Protein: ENSMUSP00000118926
Gene: ENSMUSG00000030538
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
|
EFh
|
33 |
61 |
4.4e0 |
SMART |
|
EFh
|
78 |
106 |
1.17e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205822
AA Change: T709A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206211
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit normal cerebellar morphology. Mice homozygous for a knock-out allele exhibit enhanced memory response by way of increased IgE and IgG1 serum levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
T |
16: 88,971,744 (GRCm39) |
Y22F |
unknown |
Het |
| Adgrb3 |
A |
G |
1: 25,544,065 (GRCm39) |
L312P |
probably damaging |
Het |
| Anpep |
T |
C |
7: 79,475,141 (GRCm39) |
|
probably benign |
Het |
| Arhgef6 |
T |
G |
X: 56,291,738 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,146 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,833,185 (GRCm39) |
V121E |
probably benign |
Het |
| Cdyl |
T |
C |
13: 35,867,769 (GRCm39) |
L15P |
probably benign |
Het |
| Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
| Cryga |
T |
A |
1: 65,142,175 (GRCm39) |
S73C |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,758,580 (GRCm39) |
T240A |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,387 (GRCm39) |
S1789P |
probably damaging |
Het |
| Esr2 |
A |
T |
12: 76,192,036 (GRCm39) |
W331R |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,764,769 (GRCm39) |
L455H |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,391 (GRCm39) |
E65V |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,762,438 (GRCm39) |
F262L |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,323,602 (GRCm39) |
L336* |
probably null |
Het |
| Hfm1 |
A |
C |
5: 107,026,528 (GRCm39) |
|
probably null |
Het |
| Hgfac |
T |
C |
5: 35,201,305 (GRCm39) |
|
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,942 (GRCm39) |
E101G |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,085,374 (GRCm39) |
E1027G |
probably damaging |
Het |
| Lypd5 |
A |
T |
7: 24,052,993 (GRCm39) |
T217S |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,189,587 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,744 (GRCm39) |
W109R |
probably damaging |
Het |
| Ndufb4 |
A |
T |
16: 37,469,532 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,827 (GRCm39) |
K91R |
probably damaging |
Het |
| Or5m11b |
C |
T |
2: 85,806,219 (GRCm39) |
L211F |
probably damaging |
Het |
| Pdlim1 |
A |
G |
19: 40,231,844 (GRCm39) |
|
probably null |
Het |
| Ppp1r11 |
G |
A |
17: 37,260,781 (GRCm39) |
R61C |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,515 (GRCm39) |
D547G |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Supt5 |
T |
C |
7: 28,025,592 (GRCm39) |
H218R |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,582,063 (GRCm39) |
I426N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,677,097 (GRCm39) |
N696S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,566,506 (GRCm39) |
N26383S |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,495 (GRCm39) |
T73A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Sema4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01538:Sema4b
|
APN |
7 |
79,865,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Sema4b
|
APN |
7 |
79,866,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
false_flag
|
UTSW |
7 |
79,848,402 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0114:Sema4b
|
UTSW |
7 |
79,868,826 (GRCm39) |
splice site |
probably benign |
|
|
R0480:Sema4b
|
UTSW |
7 |
79,869,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Sema4b
|
UTSW |
7 |
79,874,388 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1545:Sema4b
|
UTSW |
7 |
79,868,771 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1687:Sema4b
|
UTSW |
7 |
79,869,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Sema4b
|
UTSW |
7 |
79,866,540 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1881:Sema4b
|
UTSW |
7 |
79,866,540 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2180:Sema4b
|
UTSW |
7 |
79,862,583 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2352:Sema4b
|
UTSW |
7 |
79,870,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2424:Sema4b
|
UTSW |
7 |
79,869,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3913:Sema4b
|
UTSW |
7 |
79,870,222 (GRCm39) |
missense |
probably benign |
|
|
R4353:Sema4b
|
UTSW |
7 |
79,865,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Sema4b
|
UTSW |
7 |
79,866,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Sema4b
|
UTSW |
7 |
79,848,504 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5004:Sema4b
|
UTSW |
7 |
79,866,093 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5399:Sema4b
|
UTSW |
7 |
79,874,634 (GRCm39) |
missense |
probably benign |
|
|
R5599:Sema4b
|
UTSW |
7 |
79,863,039 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5820:Sema4b
|
UTSW |
7 |
79,874,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5840:Sema4b
|
UTSW |
7 |
79,868,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Sema4b
|
UTSW |
7 |
79,874,715 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6600:Sema4b
|
UTSW |
7 |
79,862,676 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6749:Sema4b
|
UTSW |
7 |
79,869,949 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6992:Sema4b
|
UTSW |
7 |
79,869,900 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7175:Sema4b
|
UTSW |
7 |
79,848,402 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7660:Sema4b
|
UTSW |
7 |
79,869,995 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8345:Sema4b
|
UTSW |
7 |
79,870,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8819:Sema4b
|
UTSW |
7 |
79,870,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Sema4b
|
UTSW |
7 |
79,870,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Sema4b
|
UTSW |
7 |
79,875,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation