Incidental Mutation 'IGL02504:Septin2'
| ID |
296233 |
| 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 # |
IGL02504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93406671-93437455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93428203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 166
(H166Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127276
(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 benign
Transcript: ENSMUST00000027495
AA Change: H206Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: H206Q
| 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 benign
Transcript: ENSMUST00000112912
AA Change: H206Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: H206Q
| 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 benign
Transcript: ENSMUST00000129211
AA Change: H206Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: H206Q
| 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 benign
Transcript: ENSMUST00000131175
AA Change: H206Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: H206Q
| 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 benign
Transcript: ENSMUST00000168776
AA Change: H206Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: H206Q
| 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 benign
Transcript: ENSMUST00000172165
AA Change: H166Q
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: H166Q
| 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 benign
Transcript: ENSMUST00000150931
AA Change: H206Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: H206Q
| 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 benign
Transcript: ENSMUST00000179353
AA Change: H206Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: H206Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000152476
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
A |
4: 126,411,232 (GRCm39) |
N142I |
probably benign |
Het |
| Asf1b |
A |
G |
8: 84,682,458 (GRCm39) |
M1V |
probably null |
Het |
| Astn1 |
T |
C |
1: 158,329,978 (GRCm39) |
C278R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,428,384 (GRCm39) |
L692Q |
probably damaging |
Het |
| Cd207 |
T |
A |
6: 83,654,788 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,447,779 (GRCm39) |
N548K |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,809,743 (GRCm39) |
G2659D |
unknown |
Het |
| Cpa6 |
A |
T |
1: 10,559,144 (GRCm39) |
Y75N |
probably benign |
Het |
| Cspg4 |
G |
T |
9: 56,793,056 (GRCm39) |
V264L |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,930,141 (GRCm39) |
I155L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,757,951 (GRCm39) |
I51T |
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,796 (GRCm39) |
Q765K |
probably benign |
Het |
| Fam219b |
A |
T |
9: 57,445,351 (GRCm39) |
M87L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,094 (GRCm39) |
R3766C |
probably damaging |
Het |
| Fcnb |
A |
C |
2: 27,966,606 (GRCm39) |
M309R |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,598,887 (GRCm39) |
N670K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,809,199 (GRCm39) |
N1839K |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,939 (GRCm39) |
H195R |
probably damaging |
Het |
| Gm14179 |
A |
T |
11: 99,634,003 (GRCm39) |
|
|
Het |
| Grm5 |
A |
G |
7: 87,779,980 (GRCm39) |
N1172S |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,205,799 (GRCm39) |
T64A |
possibly damaging |
Het |
| Hspb7 |
G |
T |
4: 141,149,131 (GRCm39) |
E12D |
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,406,799 (GRCm39) |
N155D |
possibly damaging |
Het |
| Klhl24 |
A |
T |
16: 19,934,693 (GRCm39) |
R389* |
probably null |
Het |
| Kmt2b |
A |
G |
7: 30,285,968 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,827,727 (GRCm39) |
I469F |
unknown |
Het |
| Mto1 |
A |
T |
9: 78,368,209 (GRCm39) |
D451V |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,400,177 (GRCm39) |
D477V |
unknown |
Het |
| Pcsk5 |
A |
G |
19: 17,455,236 (GRCm39) |
|
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,696,748 (GRCm39) |
Y420* |
probably null |
Het |
| Ppp2r5d |
A |
T |
17: 47,011,019 (GRCm39) |
D27E |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,591,757 (GRCm39) |
L596P |
probably damaging |
Het |
| Prr30 |
T |
C |
14: 101,436,056 (GRCm39) |
I169V |
probably benign |
Het |
| Rtl9 |
A |
T |
X: 141,885,287 (GRCm39) |
T900S |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,676 (GRCm39) |
S905P |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,228 (GRCm39) |
G304D |
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,665,877 (GRCm39) |
L72P |
probably damaging |
Het |
| Sgcb |
A |
G |
5: 73,801,718 (GRCm39) |
I49T |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,507 (GRCm39) |
W327R |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,092,293 (GRCm39) |
E491K |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,656,213 (GRCm39) |
H254Q |
probably benign |
Het |
| Tll1 |
A |
C |
8: 64,523,271 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,847,476 (GRCm39) |
C929* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,628,494 (GRCm39) |
W12809* |
probably null |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,400 (GRCm39) |
M217K |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,263,031 (GRCm39) |
V4261A |
probably damaging |
Het |
| Uqcrc2 |
T |
C |
7: 120,242,254 (GRCm39) |
I82T |
probably benign |
Het |
| Usp21 |
A |
G |
1: 171,112,596 (GRCm39) |
I266T |
probably benign |
Het |
| Veph1 |
A |
T |
3: 66,079,551 (GRCm39) |
H321Q |
probably damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,655 (GRCm39) |
Y125S |
probably benign |
Het |
|
| Other mutations in Septin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Septin2
|
APN |
1 |
93,426,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01909:Septin2
|
APN |
1 |
93,426,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation