Incidental Mutation 'R4353:Sema4b'
| ID |
327415 |
| 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 |
040866-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R4353 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79836589-79876275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79865399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 125
(L125I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032754]
[ENSMUST00000205822]
|
| AlphaFold |
Q62179 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032754
AA Change: L125I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: L125I
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000123023
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205822
AA Change: L125I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206885
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alpk2 |
C |
T |
18: 65,424,523 (GRCm39) |
R1888H |
possibly damaging |
Het |
| Arhgap33 |
C |
A |
7: 30,223,561 (GRCm39) |
V823L |
possibly damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,742,745 (GRCm39) |
I736V |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,926,451 (GRCm39) |
T260A |
probably damaging |
Het |
| B4galnt3 |
T |
C |
6: 120,192,437 (GRCm39) |
E433G |
possibly damaging |
Het |
| Bzw2 |
A |
T |
12: 36,173,978 (GRCm39) |
F99I |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,143,868 (GRCm39) |
A519S |
probably benign |
Het |
| Coq6 |
G |
A |
12: 84,414,923 (GRCm39) |
G110D |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,316,708 (GRCm39) |
T281A |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,514,703 (GRCm39) |
D11G |
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,988,989 (GRCm39) |
Y316C |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,474 (GRCm39) |
I74N |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,347,535 (GRCm39) |
L391P |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,183,125 (GRCm39) |
L98I |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 63,000,210 (GRCm39) |
S511T |
probably benign |
Het |
| Dusp2 |
A |
G |
2: 127,179,256 (GRCm39) |
T204A |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,199 (GRCm39) |
V37A |
probably benign |
Het |
| Etv1 |
A |
G |
12: 38,907,105 (GRCm39) |
E369G |
probably damaging |
Het |
| Gem |
G |
A |
4: 11,705,939 (GRCm39) |
R9H |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,530,847 (GRCm39) |
T108A |
probably benign |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,807,904 (GRCm39) |
V788M |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,437,054 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Meis2 |
A |
G |
2: 115,890,044 (GRCm39) |
M146T |
probably damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Nt5el |
T |
C |
13: 105,255,253 (GRCm39) |
Y445H |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,867,929 (GRCm39) |
|
probably null |
Het |
| Or2h1b |
T |
A |
17: 37,462,228 (GRCm39) |
I58F |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,184,060 (GRCm39) |
T191I |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Poln |
C |
T |
5: 34,286,796 (GRCm39) |
C124Y |
probably benign |
Het |
| Ppp2r2a |
T |
A |
14: 67,266,386 (GRCm39) |
I92L |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rnf130 |
T |
C |
11: 49,978,267 (GRCm39) |
V276A |
possibly damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Scn7a |
T |
A |
2: 66,506,780 (GRCm39) |
M1370L |
probably benign |
Het |
| Slc12a7 |
C |
T |
13: 73,938,853 (GRCm39) |
T210I |
possibly damaging |
Het |
| Sox8 |
A |
C |
17: 25,786,309 (GRCm39) |
*465G |
probably null |
Het |
| Spg11 |
G |
T |
2: 121,943,675 (GRCm39) |
T159K |
possibly damaging |
Het |
| Stk36 |
A |
G |
1: 74,671,966 (GRCm39) |
R889G |
possibly damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,796 (GRCm39) |
S14G |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,267,242 (GRCm39) |
N211D |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,979,677 (GRCm39) |
A113V |
possibly damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,730,219 (GRCm39) |
N92D |
possibly damaging |
Het |
| Zfp638 |
T |
C |
6: 83,961,041 (GRCm39) |
S1206P |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCCAATCTGGAAGCTAACTGAG -3'
(R):5'- GCCTACTGCTACCTAGAAGC -3'
Sequencing Primer
(F):5'- TGAGCCCCAGTGCAGAC -3'
(R):5'- TGCTACCTAGAAGCCTGCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation