Incidental Mutation 'R5599:Sema4b'
| ID |
438943 |
| 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 |
043151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.771)
|
| Stock # |
R5599 (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 79863039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 104
(K104R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032754]
[ENSMUST00000205822]
|
| AlphaFold |
Q62179 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032754
AA Change: K104R
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539
AA Change: K104R
| 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 benign
Transcript: ENSMUST00000205822
AA Change: K104R
PolyPhen 2
Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206885
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
T |
A |
7: 78,946,746 (GRCm39) |
|
probably null |
Het |
| Agpat3 |
T |
C |
10: 78,110,103 (GRCm39) |
D282G |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,693,860 (GRCm39) |
A24T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,424 (GRCm39) |
N1128D |
possibly damaging |
Het |
| Cry1 |
A |
T |
10: 84,980,114 (GRCm39) |
M398K |
probably benign |
Het |
| Dpp10 |
A |
G |
1: 123,832,803 (GRCm39) |
I47T |
probably damaging |
Het |
| Fpr-rs6 |
C |
T |
17: 20,402,375 (GRCm39) |
D329N |
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gxylt1 |
CTCATCCGGGTCAT |
CTCAT |
15: 93,152,198 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul1 |
G |
A |
7: 25,454,097 (GRCm39) |
|
probably benign |
Het |
| Lbx1 |
T |
A |
19: 45,223,519 (GRCm39) |
S50C |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,090,324 (GRCm39) |
N183S |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,429,738 (GRCm39) |
N444S |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,987 (GRCm39) |
C1626S |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,732,269 (GRCm39) |
E553G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,733 (GRCm39) |
T704S |
probably benign |
Het |
| Or4c3d |
A |
G |
2: 89,882,563 (GRCm39) |
V35A |
probably benign |
Het |
| Or56a3 |
T |
C |
7: 104,735,757 (GRCm39) |
|
probably null |
Het |
| Or7g29 |
T |
G |
9: 19,286,925 (GRCm39) |
N84T |
possibly damaging |
Het |
| Or9m1b |
T |
G |
2: 87,836,349 (GRCm39) |
I258L |
probably benign |
Het |
| Plekha7 |
T |
A |
7: 115,776,117 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,944,346 (GRCm39) |
M1271T |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,323 (GRCm39) |
M595T |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,105,033 (GRCm39) |
V412D |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,793,645 (GRCm39) |
V573A |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,181,701 (GRCm39) |
Y430H |
probably benign |
Het |
| Psmd6 |
A |
C |
14: 14,120,144 (GRCm38) |
M65R |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,938,713 (GRCm39) |
R520* |
probably null |
Het |
| Rin3 |
T |
C |
12: 102,356,188 (GRCm39) |
F830L |
probably damaging |
Het |
| Slitrk1 |
T |
C |
14: 109,149,244 (GRCm39) |
D489G |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,729,789 (GRCm39) |
T110A |
possibly damaging |
Het |
| Sult2a6 |
T |
A |
7: 13,988,629 (GRCm39) |
K44* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,201,886 (GRCm39) |
N1427D |
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tcstv2c |
A |
C |
13: 120,616,458 (GRCm39) |
Q99P |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,909,176 (GRCm39) |
G1445V |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,909,179 (GRCm39) |
V1569A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,959,880 (GRCm39) |
D1163G |
probably damaging |
Het |
| Zfp365 |
C |
T |
10: 67,745,197 (GRCm39) |
E194K |
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 |
|
|
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'- AGCAACCTCAGCTTCTTGCC -3'
(R):5'- TGCTAACGCTAATGGGACAGG -3'
Sequencing Primer
(F):5'- TCAGCTTCTTGCCAGGCG -3'
(R):5'- TCCAGGGATATAGGCATACTATTCCC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation