Incidental Mutation 'R5901:Sema4b'
| ID |
456322 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
043239-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R5901 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79836589-79876275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79874715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 702
(N702D)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000032754
AA Change: N702D
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: N702D
| 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 |
possibly damaging
Transcript: ENSMUST00000205822
AA Change: N702D
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
T |
A |
11: 99,728,163 (GRCm39) |
S227C |
unknown |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamts15 |
C |
T |
9: 30,813,786 (GRCm39) |
R793H |
probably damaging |
Het |
| Ankra2 |
A |
G |
13: 98,407,644 (GRCm39) |
E38G |
probably damaging |
Het |
| Aqp8 |
G |
A |
7: 123,061,807 (GRCm39) |
C8Y |
probably damaging |
Het |
| Atg9b |
A |
G |
5: 24,597,017 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,735,339 (GRCm39) |
E469G |
possibly damaging |
Het |
| B4gat1 |
T |
A |
19: 5,089,241 (GRCm39) |
Y79* |
probably null |
Het |
| BB019430 |
T |
A |
10: 58,540,014 (GRCm39) |
|
noncoding transcript |
Het |
| Calhm3 |
T |
C |
19: 47,146,052 (GRCm39) |
Y51C |
probably damaging |
Het |
| Ccr2 |
C |
T |
9: 123,906,239 (GRCm39) |
T173I |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,885,538 (GRCm39) |
D359G |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,566,639 (GRCm39) |
E1022G |
possibly damaging |
Het |
| Drd2 |
T |
A |
9: 49,318,259 (GRCm39) |
C400* |
probably null |
Het |
| Efcab7 |
T |
A |
4: 99,766,941 (GRCm39) |
H495Q |
probably damaging |
Het |
| Faim |
T |
C |
9: 98,874,195 (GRCm39) |
V29A |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,526,326 (GRCm39) |
S350P |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,270,285 (GRCm39) |
E152G |
probably benign |
Het |
| Kif17 |
T |
C |
4: 138,025,643 (GRCm39) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,428,604 (GRCm39) |
S119T |
probably damaging |
Het |
| Ly6k |
A |
T |
15: 74,670,429 (GRCm39) |
S38T |
probably benign |
Het |
| Mapk10 |
A |
G |
5: 103,061,158 (GRCm39) |
S430P |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,410,180 (GRCm39) |
A654T |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,867,536 (GRCm39) |
L450P |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,532,323 (GRCm39) |
D1603G |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,116,771 (GRCm39) |
S1580P |
possibly damaging |
Het |
| Rad54b |
G |
A |
4: 11,595,919 (GRCm39) |
R232H |
possibly damaging |
Het |
| Sar1b |
C |
T |
11: 51,670,576 (GRCm39) |
T40I |
possibly damaging |
Het |
| Scyl2 |
C |
T |
10: 89,496,124 (GRCm39) |
S242N |
probably benign |
Het |
| Slc16a11 |
A |
G |
11: 70,107,172 (GRCm39) |
I394V |
probably benign |
Het |
| Stard9 |
A |
C |
2: 120,531,851 (GRCm39) |
T2703P |
probably damaging |
Het |
| Stat5b |
A |
T |
11: 100,695,733 (GRCm39) |
L83Q |
possibly damaging |
Het |
| Tas2r119 |
T |
A |
15: 32,177,932 (GRCm39) |
V166D |
possibly damaging |
Het |
| Tmem117 |
T |
A |
15: 94,612,839 (GRCm39) |
I125N |
probably benign |
Het |
| Tmem39a |
T |
C |
16: 38,393,568 (GRCm39) |
I89T |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,178,565 (GRCm39) |
H3272Q |
probably damaging |
Het |
| Vmn1r7 |
T |
C |
6: 57,001,591 (GRCm39) |
E223G |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,603,796 (GRCm39) |
V658A |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,343,410 (GRCm39) |
T1884S |
possibly damaging |
Het |
| Xkr4 |
A |
T |
1: 3,286,901 (GRCm39) |
F430I |
probably damaging |
Het |
| Yae1d1 |
A |
G |
13: 18,164,200 (GRCm39) |
M1T |
probably null |
Het |
| Zfand4 |
T |
C |
6: 116,265,084 (GRCm39) |
V183A |
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 |
|
IGL02584:Sema4b
|
APN |
7 |
79,874,736 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGAAGAAGGATTCCAGCAGCTTG -3'
(R):5'- TATCCGACAGAGCCTGGTAG -3'
Sequencing Primer
(F):5'- AGCTTGTGGCCAGCTACTG -3'
(R):5'- TAGGAGGGCCGACACCATTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation