Incidental Mutation 'R2352:Sema4b'
| ID |
246200 |
| 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 |
040334-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R2352 (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 79870627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 525
(A525D)
|
| 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: A525D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: A525D
| 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 |
probably damaging
Transcript: ENSMUST00000205822
AA Change: A525D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| 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 |
|---|
| Ankrd28 |
C |
T |
14: 31,432,904 (GRCm39) |
V548I |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,385,300 (GRCm39) |
S315P |
probably benign |
Het |
| Caln1 |
G |
T |
5: 130,534,993 (GRCm39) |
E70* |
probably null |
Het |
| Cd69 |
A |
T |
6: 129,246,567 (GRCm39) |
W114R |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,177,275 (GRCm39) |
Y90H |
probably damaging |
Het |
| Crebrf |
C |
T |
17: 26,961,320 (GRCm39) |
S147F |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,500,586 (GRCm39) |
C320* |
probably null |
Het |
| Dgat1 |
T |
C |
15: 76,386,513 (GRCm39) |
I474V |
possibly damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,301,146 (GRCm39) |
I2322F |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,892,065 (GRCm39) |
F3703I |
probably damaging |
Het |
| Foxb2 |
A |
G |
19: 16,850,433 (GRCm39) |
L191P |
unknown |
Het |
| Gli3 |
A |
T |
13: 15,836,977 (GRCm39) |
E453D |
probably benign |
Het |
| Gnl3 |
C |
T |
14: 30,738,783 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
T |
16: 36,718,921 (GRCm39) |
T276S |
probably damaging |
Het |
| Grk4 |
T |
C |
5: 34,826,520 (GRCm39) |
M40T |
probably benign |
Het |
| Hoxb1 |
A |
G |
11: 96,257,203 (GRCm39) |
N184S |
possibly damaging |
Het |
| Insr |
G |
T |
8: 3,242,593 (GRCm39) |
T42N |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,011,815 (GRCm39) |
K836E |
possibly damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Leng9 |
T |
A |
7: 4,152,409 (GRCm39) |
E89V |
probably damaging |
Het |
| Lhcgr |
C |
T |
17: 89,049,727 (GRCm39) |
V600I |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,692,396 (GRCm39) |
N183S |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,110,729 (GRCm39) |
D483G |
probably benign |
Het |
| Lpcat2b |
T |
G |
5: 107,581,307 (GRCm39) |
L212R |
probably damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,545,806 (GRCm39) |
I210F |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,502,934 (GRCm39) |
Q72* |
probably null |
Het |
| Lypd8l |
A |
T |
11: 58,503,676 (GRCm39) |
L10H |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,148,113 (GRCm39) |
L977F |
probably damaging |
Het |
| Mical1 |
A |
T |
10: 41,358,229 (GRCm39) |
D414V |
probably benign |
Het |
| Mmp14 |
C |
T |
14: 54,678,002 (GRCm39) |
A541V |
probably benign |
Het |
| Mtmr10 |
A |
G |
7: 63,947,328 (GRCm39) |
D81G |
possibly damaging |
Het |
| Myh1 |
G |
A |
11: 67,111,363 (GRCm39) |
V1601M |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,177,348 (GRCm39) |
Y1331C |
probably damaging |
Het |
| Otop2 |
T |
C |
11: 115,219,927 (GRCm39) |
S256P |
probably damaging |
Het |
| Prl8a1 |
A |
G |
13: 27,759,572 (GRCm39) |
L155P |
probably damaging |
Het |
| Rrp1b |
A |
T |
17: 32,278,302 (GRCm39) |
M658L |
possibly damaging |
Het |
| Slc13a5 |
T |
A |
11: 72,143,147 (GRCm39) |
I369F |
probably benign |
Het |
| Slc22a18 |
T |
C |
7: 143,051,152 (GRCm39) |
S344P |
probably benign |
Het |
| Slc25a4 |
A |
C |
8: 46,662,212 (GRCm39) |
S149A |
probably benign |
Het |
| Smc2 |
A |
T |
4: 52,460,266 (GRCm39) |
E547D |
probably benign |
Het |
| Stx8 |
A |
G |
11: 67,864,077 (GRCm39) |
T46A |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,560,631 (GRCm39) |
V190A |
probably benign |
Het |
| Tdrkh |
A |
T |
3: 94,336,467 (GRCm39) |
K468M |
possibly damaging |
Het |
| Tmem145 |
T |
C |
7: 25,005,598 (GRCm39) |
S4P |
probably benign |
Het |
| Tmem74 |
A |
G |
15: 43,730,506 (GRCm39) |
I179T |
probably damaging |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,683 (GRCm39) |
W177G |
probably benign |
Het |
| Zfp426 |
T |
C |
9: 20,381,401 (GRCm39) |
I529V |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,008,313 (GRCm39) |
Y93C |
probably null |
Het |
| Zfyve26 |
G |
A |
12: 79,330,890 (GRCm39) |
T443I |
probably damaging |
Het |
| Zkscan16 |
A |
C |
4: 58,951,869 (GRCm39) |
R181S |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGCAGAACTTGTCAGGG -3'
(R):5'- GGCAAACCCTGTCTATCTGG -3'
Sequencing Primer
(F):5'- AGAACTTGTCAGGGGTGCC -3'
(R):5'- AAACCCTGTCTATCTGGTCCATATAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation