Incidental Mutation 'R6542:Septin2'
| ID |
520803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin2
|
| Ensembl Gene |
ENSMUSG00000026276 |
| Gene Name |
septin 2 |
| Synonyms |
Nedd5, Sept2 |
| MMRRC Submission |
044668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R6542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93406671-93437455 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 93425188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027495]
[ENSMUST00000112912]
[ENSMUST00000129211]
[ENSMUST00000131175]
[ENSMUST00000136182]
[ENSMUST00000142401]
[ENSMUST00000149532]
[ENSMUST00000150931]
[ENSMUST00000168776]
[ENSMUST00000172165]
[ENSMUST00000179353]
[ENSMUST00000153826]
|
| AlphaFold |
P42208 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027495
|
| SMART Domains |
Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
| 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 null
Transcript: ENSMUST00000112912
|
| SMART Domains |
Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
| 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 null
Transcript: ENSMUST00000129211
|
| SMART Domains |
Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
| 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 null
Transcript: ENSMUST00000131175
|
| SMART Domains |
Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
| 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000150931
|
| SMART Domains |
Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
| 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 null
Transcript: ENSMUST00000168776
|
| SMART Domains |
Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
| 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 null
Transcript: ENSMUST00000172165
|
| SMART Domains |
Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
| 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 null
Transcript: ENSMUST00000179353
|
| SMART Domains |
Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,030,902 (GRCm39) |
L566Q |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,764,972 (GRCm39) |
T551I |
probably benign |
Het |
| Aqp5 |
A |
G |
15: 99,492,143 (GRCm39) |
E247G |
probably damaging |
Het |
| Bdkrb1 |
T |
C |
12: 105,571,352 (GRCm39) |
F306S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,465,021 (GRCm39) |
V71I |
probably benign |
Het |
| Cog4 |
A |
G |
8: 111,577,994 (GRCm39) |
D36G |
probably damaging |
Het |
| Ctbp1 |
A |
G |
5: 33,426,915 (GRCm39) |
|
probably benign |
Het |
| Dync1li2 |
C |
T |
8: 105,169,396 (GRCm39) |
G13D |
probably benign |
Het |
| F5 |
T |
C |
1: 164,022,037 (GRCm39) |
V1504A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,144,203 (GRCm39) |
L555P |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,802,853 (GRCm39) |
S152T |
probably benign |
Het |
| Fign |
A |
T |
2: 63,810,639 (GRCm39) |
H210Q |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,180,516 (GRCm39) |
N66S |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,435 (GRCm39) |
M20K |
probably benign |
Het |
| Isoc2b |
T |
C |
7: 4,854,454 (GRCm39) |
K26E |
probably damaging |
Het |
| Katnal1 |
C |
T |
5: 148,813,016 (GRCm39) |
A467T |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,025,147 (GRCm39) |
T292A |
probably benign |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mcur1 |
A |
T |
13: 43,705,134 (GRCm39) |
V174D |
probably damaging |
Het |
| Metrnl |
A |
C |
11: 121,593,704 (GRCm39) |
|
probably null |
Het |
| Midn |
A |
G |
10: 79,992,418 (GRCm39) |
D490G |
probably damaging |
Het |
| Mmp10 |
G |
A |
9: 7,506,513 (GRCm39) |
A330T |
probably benign |
Het |
| Mto1 |
T |
A |
9: 78,364,510 (GRCm39) |
C281S |
possibly damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,108 (GRCm38) |
I1036V |
probably benign |
Het |
| Odad1 |
G |
T |
7: 45,597,814 (GRCm39) |
A575S |
probably benign |
Het |
| Or13c7c |
A |
C |
4: 43,835,686 (GRCm39) |
L268R |
probably benign |
Het |
| Or1ab2 |
T |
C |
8: 72,863,715 (GRCm39) |
F102L |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,739,677 (GRCm39) |
T172A |
probably damaging |
Het |
| Or8b48 |
C |
A |
9: 38,450,733 (GRCm39) |
L181I |
probably benign |
Het |
| Parp4 |
A |
C |
14: 56,885,339 (GRCm39) |
I1473L |
unknown |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,642 (GRCm39) |
Y212C |
probably damaging |
Het |
| Pilra |
G |
T |
5: 137,820,237 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,655,927 (GRCm39) |
I202T |
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,671,586 (GRCm39) |
E432D |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,194,851 (GRCm39) |
D298G |
possibly damaging |
Het |
| Prr22 |
T |
A |
17: 57,077,527 (GRCm39) |
|
probably null |
Het |
| Setdb1 |
C |
A |
3: 95,247,618 (GRCm39) |
V426L |
probably damaging |
Het |
| Slc8b1 |
C |
T |
5: 120,667,582 (GRCm39) |
A405V |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,068,237 (GRCm39) |
R279* |
probably null |
Het |
| Ssh2 |
C |
G |
11: 77,340,976 (GRCm39) |
D709E |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,724,389 (GRCm39) |
D373G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,903,477 (GRCm39) |
L921S |
probably benign |
Het |
| Ubqln3 |
T |
C |
7: 103,790,824 (GRCm39) |
N422S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,448,803 (GRCm39) |
V125I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,060,413 (GRCm39) |
Y390* |
probably null |
Het |
| Zcwpw1 |
T |
C |
5: 137,810,282 (GRCm39) |
F353L |
probably damaging |
Het |
| Zfp462 |
G |
A |
4: 55,023,433 (GRCm39) |
C987Y |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,508 (GRCm39) |
S320G |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATATCTCTCCTTCTAGCATGCTG -3'
(R):5'- GGCTGCAGTCTGTATTACAGTG -3'
Sequencing Primer
(F):5'- GCATGCTGCCTTGATTTTTAAGTAC -3'
(R):5'- ATTCTGAGTTCAAGGCCAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation