Incidental Mutation 'R8277:Septin2'
| ID |
638005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin2
|
| Ensembl Gene |
ENSMUSG00000026276 |
| Gene Name |
septin 2 |
| Synonyms |
Nedd5, Sept2 |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93406671-93437455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93427030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 171
(I171K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027495]
[ENSMUST00000112912]
[ENSMUST00000129211]
[ENSMUST00000131175]
[ENSMUST00000136182]
[ENSMUST00000142401]
[ENSMUST00000149532]
[ENSMUST00000150931]
[ENSMUST00000153826]
[ENSMUST00000168776]
[ENSMUST00000172165]
[ENSMUST00000179353]
|
| AlphaFold |
P42208 |
| PDB Structure |
Crystal structure of Septin 2 in complex with GppNHp and Mg2+ [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027495
AA Change: I171K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: I171K
| 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: I171K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: I171K
| 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: I171K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: I171K
| 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: I171K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: I171K
| 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: ENSMUST00000150931
AA Change: I171K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: I171K
| 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: ENSMUST00000153826
|
| SMART Domains |
Protein: ENSMUSP00000114614
Gene: ENSMUSG00000026276
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
34 |
77 |
4.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168776
AA Change: I171K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: I171K
| 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: I131K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: I131K
| 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: ENSMUST00000179353
AA Change: I171K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: I171K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
| Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
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 |
|
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 |
|
R9154:Septin2
|
UTSW |
1 |
93,429,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGTACATTGTTGCTTCTAC -3'
(R):5'- GAATTCTATAGTCCTGCCTCTGG -3'
Sequencing Primer
(F):5'- CATTTCACCTTTTGGACATGGG -3'
(R):5'- CCTCTGGCAACTCAGTTTAAATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation