Incidental Mutation 'IGL00417:Septin2'
ID |
7409 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Septin2
|
Ensembl Gene |
ENSMUSG00000026276 |
Gene Name |
septin 2 |
Synonyms |
Nedd5, Sept2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.908)
|
Stock # |
IGL00417
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93406671-93437455 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93426864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 158
(H158Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136366
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027495]
[ENSMUST00000112912]
[ENSMUST00000129211]
[ENSMUST00000131175]
[ENSMUST00000136182]
[ENSMUST00000142401]
[ENSMUST00000149532]
[ENSMUST00000168776]
[ENSMUST00000172165]
[ENSMUST00000150931]
[ENSMUST00000179353]
[ENSMUST00000153826]
|
AlphaFold |
P42208 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027495
AA Change: H158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027495 Gene: ENSMUSG00000026276 AA Change: H158Y
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
313 |
1.1e-129 |
PFAM |
Pfam:MMR_HSR1
|
39 |
242 |
3.2e-8 |
PFAM |
low complexity region
|
330 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112912
AA Change: H158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108534 Gene: ENSMUSG00000026276 AA Change: H158Y
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
221 |
4.8e-87 |
PFAM |
Pfam:AIG1
|
38 |
130 |
1.1e-6 |
PFAM |
Pfam:MMR_HSR1
|
39 |
213 |
1.2e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129211
AA Change: H158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120511 Gene: ENSMUSG00000026276 AA Change: H158Y
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
213 |
4.9e-85 |
PFAM |
Pfam:AIG1
|
38 |
131 |
9.9e-7 |
PFAM |
Pfam:MMR_HSR1
|
39 |
211 |
1.2e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131175
AA Change: H158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120694 Gene: ENSMUSG00000026276 AA Change: H158Y
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
212 |
6.5e-85 |
PFAM |
Pfam:AIG1
|
38 |
131 |
9.8e-7 |
PFAM |
Pfam:MMR_HSR1
|
39 |
211 |
1.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136182
|
SMART Domains |
Protein: ENSMUSP00000118621 Gene: ENSMUSG00000026276
Domain | Start | End | E-Value | Type |
Pfam:AIG1
|
1 |
96 |
1.4e-6 |
PFAM |
Pfam:MMR_HSR1
|
1 |
103 |
1.3e-8 |
PFAM |
Pfam:Septin
|
1 |
107 |
6.4e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142401
|
SMART Domains |
Protein: ENSMUSP00000121974 Gene: ENSMUSG00000026276
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
64 |
177 |
4.9e-49 |
PFAM |
Pfam:AIG1
|
68 |
159 |
2.3e-7 |
PFAM |
Pfam:MMR_HSR1
|
69 |
172 |
1.1e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149532
|
SMART Domains |
Protein: ENSMUSP00000115536 Gene: ENSMUSG00000026276
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
120 |
7e-35 |
PFAM |
Pfam:GTP_EFTU
|
37 |
110 |
9.5e-6 |
PFAM |
Pfam:AIG1
|
38 |
120 |
3.4e-7 |
PFAM |
Pfam:Ras
|
39 |
115 |
1.2e-5 |
PFAM |
Pfam:MMR_HSR1
|
39 |
118 |
2.1e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168776
AA Change: H158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132850 Gene: ENSMUSG00000116048 AA Change: H158Y
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
313 |
1.4e-129 |
PFAM |
Pfam:MMR_HSR1
|
39 |
240 |
1.2e-8 |
PFAM |
low complexity region
|
330 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172165
AA Change: H118Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127276 Gene: ENSMUSG00000116048 AA Change: H118Y
Domain | Start | End | E-Value | Type |
Pfam:MMR_HSR1
|
1 |
203 |
5.8e-8 |
PFAM |
Pfam:Septin
|
1 |
273 |
1.5e-125 |
PFAM |
coiled coil region
|
277 |
308 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150931
AA Change: H158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117517 Gene: ENSMUSG00000026276 AA Change: H158Y
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
221 |
4.8e-87 |
PFAM |
Pfam:AIG1
|
38 |
130 |
1.1e-6 |
PFAM |
Pfam:MMR_HSR1
|
39 |
213 |
1.2e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179353
AA Change: H158Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136366 Gene: ENSMUSG00000116048 AA Change: H158Y
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
313 |
1.1e-129 |
PFAM |
Pfam:MMR_HSR1
|
39 |
242 |
3.2e-8 |
PFAM |
low complexity region
|
330 |
348 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152778
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153826
|
SMART Domains |
Protein: ENSMUSP00000114614 Gene: ENSMUSG00000026276
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
34 |
77 |
4.7e-14 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,022,982 (GRCm39) |
I39M |
probably benign |
Het |
Acoxl |
G |
A |
2: 127,820,724 (GRCm39) |
C92Y |
probably damaging |
Het |
Actl6b |
G |
T |
5: 137,552,899 (GRCm39) |
R76L |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,505,951 (GRCm39) |
I677V |
possibly damaging |
Het |
Ank |
T |
C |
15: 27,544,437 (GRCm39) |
M66T |
possibly damaging |
Het |
C6 |
C |
T |
15: 4,789,449 (GRCm39) |
A298V |
possibly damaging |
Het |
Clip4 |
A |
T |
17: 72,156,937 (GRCm39) |
N591Y |
probably damaging |
Het |
Cntnap5b |
T |
C |
1: 99,978,479 (GRCm39) |
I165T |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,678 (GRCm39) |
R214H |
probably damaging |
Het |
Eri2 |
G |
A |
7: 119,386,964 (GRCm39) |
T185I |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,249,456 (GRCm39) |
V476A |
probably damaging |
Het |
Fer1l4 |
G |
A |
2: 155,861,840 (GRCm39) |
R1826* |
probably null |
Het |
Fyb1 |
A |
T |
15: 6,610,258 (GRCm39) |
K277I |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,818,884 (GRCm39) |
H229N |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,553,029 (GRCm39) |
I2554V |
probably benign |
Het |
Maml2 |
A |
T |
9: 13,532,900 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,053,692 (GRCm39) |
F930L |
possibly damaging |
Het |
Mmadhc |
T |
C |
2: 50,179,043 (GRCm39) |
D125G |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,396,157 (GRCm39) |
S139P |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,897,614 (GRCm39) |
L6647P |
unknown |
Het |
Ppara |
C |
A |
15: 85,685,268 (GRCm39) |
H406N |
probably benign |
Het |
Psg27 |
T |
A |
7: 18,295,842 (GRCm39) |
H201L |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,617,248 (GRCm39) |
I1188N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,783,551 (GRCm39) |
|
probably null |
Het |
Snx9 |
C |
A |
17: 5,942,172 (GRCm39) |
Q100K |
probably benign |
Het |
Thnsl2 |
G |
A |
6: 71,108,884 (GRCm39) |
T309I |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,523,571 (GRCm39) |
R125G |
probably damaging |
Het |
Tmem62 |
T |
G |
2: 120,837,445 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
T |
6: 29,578,460 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,680,439 (GRCm39) |
D889V |
probably damaging |
Het |
Tubgcp6 |
C |
A |
15: 88,988,211 (GRCm39) |
V913L |
probably benign |
Het |
Uox |
A |
T |
3: 146,333,565 (GRCm39) |
M255L |
probably benign |
Het |
|
Other mutations in Septin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01909:Septin2
|
APN |
1 |
93,426,823 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02504:Septin2
|
APN |
1 |
93,428,203 (GRCm39) |
missense |
probably benign |
0.06 |
R0136:Septin2
|
UTSW |
1 |
93,434,772 (GRCm39) |
missense |
possibly damaging |
0.57 |
R0140:Septin2
|
UTSW |
1 |
93,429,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R0335:Septin2
|
UTSW |
1 |
93,423,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Septin2
|
UTSW |
1 |
93,429,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R1370:Septin2
|
UTSW |
1 |
93,426,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R1463:Septin2
|
UTSW |
1 |
93,427,037 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4832:Septin2
|
UTSW |
1 |
93,426,849 (GRCm39) |
missense |
probably damaging |
0.98 |
R5443:Septin2
|
UTSW |
1 |
93,425,174 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5845:Septin2
|
UTSW |
1 |
93,426,757 (GRCm39) |
splice site |
probably null |
|
R5898:Septin2
|
UTSW |
1 |
93,407,023 (GRCm39) |
missense |
probably benign |
|
R6122:Septin2
|
UTSW |
1 |
93,425,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R6542:Septin2
|
UTSW |
1 |
93,425,188 (GRCm39) |
critical splice donor site |
probably null |
|
R7784:Septin2
|
UTSW |
1 |
93,425,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R8074:Septin2
|
UTSW |
1 |
93,433,283 (GRCm39) |
missense |
probably benign |
|
R8266:Septin2
|
UTSW |
1 |
93,429,248 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8277:Septin2
|
UTSW |
1 |
93,427,030 (GRCm39) |
missense |
probably benign |
0.20 |
R9154:Septin2
|
UTSW |
1 |
93,429,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |