Incidental Mutation 'R5963:Septin5'
| ID |
501706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin5
|
| Ensembl Gene |
ENSMUSG00000072214 |
| Gene Name |
septin 5 |
| Synonyms |
Cdcrel1, Pnutl1, Sept5 |
| MMRRC Submission |
044148-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.442)
|
| Stock # |
R5963 (G1)
|
| Quality Score |
167 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18440561-18448688 bp(-) (GRCm39) |
| Type of Mutation |
splice site (229 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 18442962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051160]
[ENSMUST00000096987]
[ENSMUST00000167388]
[ENSMUST00000231244]
[ENSMUST00000231335]
[ENSMUST00000232653]
[ENSMUST00000231956]
[ENSMUST00000231622]
|
| AlphaFold |
Q9Z2Q6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051160
|
| SMART Domains |
Protein: ENSMUSP00000059270
Gene: ENSMUSG00000050761
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
32 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
67 |
4.14e-11 |
SMART |
|
low complexity region
|
75 |
94 |
N/A |
INTRINSIC |
|
LRRCT
|
97 |
150 |
4.88e-14 |
SMART |
|
transmembrane domain
|
159 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096987
AA Change: I206V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: I206V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
41 |
321 |
1.2e-127 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
190 |
5.1e-7 |
PFAM |
|
low complexity region
|
355 |
369 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167388
|
| SMART Domains |
Protein: ENSMUSP00000126292
Gene: ENSMUSG00000050761
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
25 |
59 |
4.14e-11 |
SMART |
|
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
|
LRRCT
|
89 |
142 |
4.88e-14 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231244
AA Change: I206V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231335
AA Change: I215V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232653
AA Change: I215V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231956
AA Change: I206V
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232152
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231622
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231642
|
| Meta Mutation Damage Score |
0.4143 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.5%
|
| Validation Efficiency |
99% (68/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene show no gross phenotypic changes. Partial defects in synaptic transmission is reported for one allele, and platelet secretion and modest behavioral defects reported for a different allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg8 |
A |
G |
7: 97,029,037 (GRCm39) |
K131E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,823,056 (GRCm39) |
L575* |
probably null |
Het |
| Aqr |
T |
C |
2: 113,957,442 (GRCm39) |
T819A |
probably damaging |
Het |
| Bbs2 |
A |
T |
8: 94,807,659 (GRCm39) |
S407T |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,286,889 (GRCm39) |
C272S |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,553,192 (GRCm39) |
|
probably null |
Het |
| C5ar1 |
A |
G |
7: 15,982,747 (GRCm39) |
V91A |
possibly damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,411,579 (GRCm39) |
H649R |
possibly damaging |
Het |
| Cfap43 |
A |
T |
19: 47,734,013 (GRCm39) |
V1451E |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,231,511 (GRCm39) |
M901L |
probably damaging |
Het |
| Cherp |
G |
T |
8: 73,215,379 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
C |
T |
2: 104,078,630 (GRCm39) |
V1229I |
possibly damaging |
Het |
| Fat4 |
A |
C |
3: 39,064,696 (GRCm39) |
D4884A |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,480 (GRCm39) |
F243L |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,262,487 (GRCm39) |
I776F |
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,690 (GRCm39) |
R272* |
probably null |
Het |
| Gsdmc |
A |
T |
15: 63,651,965 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
A |
8: 111,220,926 (GRCm39) |
F1441I |
possibly damaging |
Het |
| Ints11 |
T |
A |
4: 155,957,369 (GRCm39) |
C63* |
probably null |
Het |
| Kdm4b |
A |
T |
17: 56,706,732 (GRCm39) |
T908S |
probably damaging |
Het |
| Lipn |
A |
G |
19: 34,058,700 (GRCm39) |
D304G |
probably damaging |
Het |
| Man2a1 |
T |
G |
17: 64,982,117 (GRCm39) |
N544K |
probably benign |
Het |
| Mapkapk5 |
G |
T |
5: 121,676,544 (GRCm39) |
H66N |
probably damaging |
Het |
| Mog |
G |
A |
17: 37,323,240 (GRCm39) |
R233* |
probably null |
Het |
| Mrps24 |
A |
T |
11: 5,657,481 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
C |
5: 29,642,768 (GRCm39) |
L423P |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,168 (GRCm39) |
V174E |
probably benign |
Het |
| Pcdha1 |
T |
A |
18: 37,064,224 (GRCm39) |
V296E |
probably damaging |
Het |
| Pdcd2 |
T |
C |
17: 15,746,656 (GRCm39) |
K168E |
possibly damaging |
Het |
| Pdcd2 |
G |
T |
17: 15,746,657 (GRCm39) |
H167Q |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,239,780 (GRCm39) |
V63D |
probably damaging |
Het |
| Pnn |
C |
T |
12: 59,114,617 (GRCm39) |
R56* |
probably null |
Het |
| Primpol |
T |
A |
8: 47,046,615 (GRCm39) |
E227V |
possibly damaging |
Het |
| Rad54l |
A |
T |
4: 115,967,584 (GRCm39) |
W233R |
probably damaging |
Het |
| Rims2 |
A |
T |
15: 39,300,578 (GRCm39) |
D103V |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,091,819 (GRCm39) |
S1511P |
probably benign |
Het |
| Simc1 |
T |
A |
13: 54,673,632 (GRCm39) |
I660K |
possibly damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,691 (GRCm39) |
L75P |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,721,196 (GRCm39) |
S55G |
possibly damaging |
Het |
| Slit3 |
C |
T |
11: 35,591,063 (GRCm39) |
R1292C |
probably damaging |
Het |
| Slitrk3 |
A |
G |
3: 72,958,046 (GRCm39) |
V242A |
probably benign |
Het |
| St14 |
A |
T |
9: 31,017,853 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
T |
C |
1: 135,771,600 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
G |
A |
1: 191,731,977 (GRCm39) |
T288I |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,625,263 (GRCm39) |
|
noncoding transcript |
Het |
| Vegfc |
A |
G |
8: 54,634,319 (GRCm39) |
N333D |
probably benign |
Het |
| Vmn1r65 |
T |
A |
7: 6,011,608 (GRCm39) |
I209F |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,118,320 (GRCm39) |
L725P |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,288,871 (GRCm39) |
I408T |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,052,310 (GRCm39) |
Y114H |
probably damaging |
Het |
| Ybx2 |
A |
G |
11: 69,831,918 (GRCm39) |
E164G |
probably damaging |
Het |
| Zcchc14 |
A |
T |
8: 122,355,362 (GRCm39) |
|
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,615,103 (GRCm39) |
T453A |
possibly damaging |
Het |
| Zfp84 |
G |
T |
7: 29,476,378 (GRCm39) |
G357C |
probably damaging |
Het |
| Zmynd11 |
G |
T |
13: 9,745,931 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Septin5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Septin5
|
APN |
16 |
18,443,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02124:Septin5
|
APN |
16 |
18,443,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02211:Septin5
|
APN |
16 |
18,443,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02934:Septin5
|
APN |
16 |
18,448,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0518:Septin5
|
UTSW |
16 |
18,443,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0521:Septin5
|
UTSW |
16 |
18,443,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0627:Septin5
|
UTSW |
16 |
18,444,115 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0746:Septin5
|
UTSW |
16 |
18,441,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0891:Septin5
|
UTSW |
16 |
18,443,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Septin5
|
UTSW |
16 |
18,441,844 (GRCm39) |
splice site |
probably benign |
|
|
R1850:Septin5
|
UTSW |
16 |
18,443,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:Septin5
|
UTSW |
16 |
18,441,762 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3872:Septin5
|
UTSW |
16 |
18,441,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4498:Septin5
|
UTSW |
16 |
18,442,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Septin5
|
UTSW |
16 |
18,442,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6286:Septin5
|
UTSW |
16 |
18,442,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7014:Septin5
|
UTSW |
16 |
18,443,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Septin5
|
UTSW |
16 |
18,443,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Septin5
|
UTSW |
16 |
18,443,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8888:Septin5
|
UTSW |
16 |
18,441,861 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8895:Septin5
|
UTSW |
16 |
18,441,861 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9210:Septin5
|
UTSW |
16 |
18,442,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGTTGCACCTCCTGGG -3'
(R):5'- TCATCGCCAAAGCTGACTGC -3'
Sequencing Primer
(F):5'- CCTCCTGGGTGCTCAGC -3'
(R):5'- AAAGCTGACTGCCTGGTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation