Incidental Mutation 'R7805:Sema6b'
| ID |
600743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema6b
|
| Ensembl Gene |
ENSMUSG00000001227 |
| Gene Name |
sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B |
| Synonyms |
semaZ, Seman, VIb, Sema |
| MMRRC Submission |
045860-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R7805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56430085-56447343 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56438555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 114
(I114F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001256]
[ENSMUST00000167545]
|
| AlphaFold |
O54951 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001256
AA Change: I114F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: I114F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
21 |
N/A |
INTRINSIC |
|
Sema
|
66 |
496 |
2.48e-177 |
SMART |
|
PSI
|
527 |
581 |
4.09e-1 |
SMART |
|
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
866 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167545
AA Change: I114F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: I114F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
21 |
N/A |
INTRINSIC |
|
Sema
|
66 |
496 |
2.48e-177 |
SMART |
|
PSI
|
527 |
581 |
4.09e-1 |
SMART |
|
transmembrane domain
|
604 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
866 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mossy fiber and mossy cell axon projections, thickened suprapyramidal bundles, and elongated infrapyramydal bundles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,624,128 (GRCm39) |
|
probably null |
Het |
| Aida |
A |
G |
1: 183,085,633 (GRCm39) |
K44R |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,187,548 (GRCm39) |
V79M |
probably damaging |
Het |
| Armc9 |
G |
A |
1: 86,124,041 (GRCm39) |
G405D |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,490,327 (GRCm39) |
R252S |
probably benign |
Het |
| C9orf72 |
G |
T |
4: 35,194,170 (GRCm39) |
H372Q |
|
Het |
| Camkk2 |
G |
T |
5: 122,880,275 (GRCm39) |
T447K |
possibly damaging |
Het |
| Car2 |
A |
G |
3: 14,965,130 (GRCm39) |
I255V |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,803,502 (GRCm39) |
S525T |
probably benign |
Het |
| Col24a1 |
T |
C |
3: 145,019,901 (GRCm39) |
Y91H |
probably benign |
Het |
| Cryba1 |
C |
A |
11: 77,613,434 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,313,366 (GRCm39) |
E1348K |
|
Het |
| Dcst1 |
A |
G |
3: 89,260,068 (GRCm39) |
L592P |
probably damaging |
Het |
| Ddx17 |
A |
G |
15: 79,421,723 (GRCm39) |
I334T |
probably damaging |
Het |
| Dspp |
A |
T |
5: 104,323,259 (GRCm39) |
N134I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,873,665 (GRCm39) |
V535A |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,690,732 (GRCm39) |
E847G |
possibly damaging |
Het |
| Fancc |
A |
G |
13: 63,508,056 (GRCm39) |
S160P |
possibly damaging |
Het |
| Fndc9 |
C |
T |
11: 46,129,138 (GRCm39) |
A219V |
probably damaging |
Het |
| Ifitm1 |
G |
A |
7: 140,548,282 (GRCm39) |
W38* |
probably null |
Het |
| Iqch |
A |
G |
9: 63,329,002 (GRCm39) |
|
probably null |
Het |
| Krt9 |
T |
C |
11: 100,083,522 (GRCm39) |
R170G |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,902,747 (GRCm39) |
|
probably null |
Het |
| Lrrc18 |
A |
G |
14: 32,730,973 (GRCm39) |
K171E |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,659,927 (GRCm39) |
S1007P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,549,789 (GRCm39) |
L5501F |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,581,736 (GRCm39) |
N1557S |
probably benign |
Het |
| Or5g25 |
A |
T |
2: 85,477,794 (GRCm39) |
Y290* |
probably null |
Het |
| Ovgp1 |
A |
G |
3: 105,894,110 (GRCm39) |
T628A |
unknown |
Het |
| Pld5 |
A |
T |
1: 175,872,480 (GRCm39) |
L219Q |
probably damaging |
Het |
| Rabggta |
G |
A |
14: 55,956,969 (GRCm39) |
T273I |
probably benign |
Het |
| Rnf208 |
A |
G |
2: 25,133,912 (GRCm39) |
D202G |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,441,040 (GRCm39) |
N1029D |
not run |
Het |
| Sgpp1 |
A |
G |
12: 75,769,451 (GRCm39) |
I239T |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,071,515 (GRCm39) |
N638S |
probably damaging |
Het |
| Slc39a11 |
T |
C |
11: 113,482,781 (GRCm39) |
|
probably null |
Het |
| Smc3 |
T |
C |
19: 53,629,390 (GRCm39) |
S948P |
probably benign |
Het |
| Snx24 |
T |
A |
18: 53,522,623 (GRCm39) |
H159Q |
probably benign |
Het |
| Sycp2 |
G |
T |
2: 178,022,651 (GRCm39) |
N493K |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,685 (GRCm39) |
D1242G |
probably damaging |
Het |
| Triobp |
G |
T |
15: 78,858,204 (GRCm39) |
R1268S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,136,753 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,340,325 (GRCm39) |
S855R |
probably benign |
Het |
| Zscan20 |
T |
A |
4: 128,479,599 (GRCm39) |
H964L |
probably damaging |
Het |
|
| Other mutations in Sema6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Sema6b
|
APN |
17 |
56,437,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01102:Sema6b
|
APN |
17 |
56,439,761 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01533:Sema6b
|
APN |
17 |
56,436,499 (GRCm39) |
splice site |
probably benign |
|
|
IGL01611:Sema6b
|
APN |
17 |
56,436,969 (GRCm39) |
splice site |
probably null |
|
|
IGL01996:Sema6b
|
APN |
17 |
56,438,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02118:Sema6b
|
APN |
17 |
56,439,821 (GRCm39) |
missense |
probably benign |
|
|
R0010:Sema6b
|
UTSW |
17 |
56,431,105 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0066:Sema6b
|
UTSW |
17 |
56,435,271 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0066:Sema6b
|
UTSW |
17 |
56,435,271 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0525:Sema6b
|
UTSW |
17 |
56,433,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0635:Sema6b
|
UTSW |
17 |
56,436,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1129:Sema6b
|
UTSW |
17 |
56,431,347 (GRCm39) |
missense |
probably benign |
|
|
R1927:Sema6b
|
UTSW |
17 |
56,439,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2211:Sema6b
|
UTSW |
17 |
56,431,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4081:Sema6b
|
UTSW |
17 |
56,435,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5013:Sema6b
|
UTSW |
17 |
56,439,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5296:Sema6b
|
UTSW |
17 |
56,434,091 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5314:Sema6b
|
UTSW |
17 |
56,435,413 (GRCm39) |
nonsense |
probably null |
|
|
R6317:Sema6b
|
UTSW |
17 |
56,431,047 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6419:Sema6b
|
UTSW |
17 |
56,439,784 (GRCm39) |
nonsense |
probably null |
|
|
R7255:Sema6b
|
UTSW |
17 |
56,432,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7289:Sema6b
|
UTSW |
17 |
56,432,573 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8157:Sema6b
|
UTSW |
17 |
56,435,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Sema6b
|
UTSW |
17 |
56,431,803 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8305:Sema6b
|
UTSW |
17 |
56,434,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Sema6b
|
UTSW |
17 |
56,439,500 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATAACGGCTTGGAGCTC -3'
(R):5'- CAAGTAGAACTGGAGCCATCC -3'
Sequencing Primer
(F):5'- CAGCTAGGAACATGGCTA -3'
(R):5'- AGGATGATGAGGGCTACAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation