Incidental Mutation 'R2409:Septin9'
| ID |
248140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin9
|
| Ensembl Gene |
ENSMUSG00000059248 |
| Gene Name |
septin 9 |
| Synonyms |
Msf, Sept9, MSF1, PNUTL4, SL3-3 integration site 1, Sint1 |
| MMRRC Submission |
040375-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2409 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117090487-117253151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 117251287 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 535
(I535N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019038]
[ENSMUST00000093907]
[ENSMUST00000100193]
[ENSMUST00000106349]
[ENSMUST00000106354]
[ENSMUST00000127383]
|
| AlphaFold |
Q80UG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019038
AA Change: I546N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: I546N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
265 |
379 |
5.3e-8 |
PFAM |
|
Pfam:Septin
|
286 |
565 |
1.2e-112 |
PFAM |
|
Pfam:GTP_EFTU
|
289 |
365 |
1.5e-5 |
PFAM |
|
Pfam:AIG1
|
290 |
379 |
3.1e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
291 |
481 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093907
AA Change: I553N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: I553N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
293 |
572 |
1.6e-112 |
PFAM |
|
Pfam:MMR_HSR1
|
298 |
444 |
3e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100193
AA Change: I304N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097767
Gene: ENSMUSG00000059248
AA Change: I304N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
23 |
138 |
1.1e-8 |
PFAM |
|
Pfam:Septin
|
44 |
323 |
3.4e-113 |
PFAM |
|
Pfam:GTP_EFTU
|
47 |
123 |
6.2e-6 |
PFAM |
|
Pfam:AIG1
|
48 |
138 |
2.4e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
49 |
194 |
4.6e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106349
AA Change: I304N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101956
Gene: ENSMUSG00000059248
AA Change: I304N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
23 |
138 |
1.1e-8 |
PFAM |
|
Pfam:Septin
|
44 |
323 |
3.4e-113 |
PFAM |
|
Pfam:GTP_EFTU
|
47 |
123 |
6.2e-6 |
PFAM |
|
Pfam:AIG1
|
48 |
138 |
2.4e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
49 |
194 |
4.6e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106354
AA Change: I535N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: I535N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
254 |
368 |
4.2e-8 |
PFAM |
|
Pfam:Septin
|
275 |
554 |
3.4e-113 |
PFAM |
|
Pfam:GTP_EFTU
|
278 |
354 |
3.7e-6 |
PFAM |
|
Pfam:AIG1
|
279 |
368 |
1.9e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
280 |
378 |
7.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127383
|
| SMART Domains |
Protein: ENSMUSP00000120065
Gene: ENSMUSG00000059248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
43 |
158 |
1.2e-8 |
PFAM |
|
Pfam:Septin
|
63 |
242 |
6.2e-79 |
PFAM |
|
Pfam:GTP_EFTU
|
66 |
142 |
9.2e-7 |
PFAM |
|
Pfam:AIG1
|
67 |
161 |
4.2e-8 |
PFAM |
|
Pfam:MMR_HSR1
|
68 |
222 |
8.9e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134852
|
| Meta Mutation Damage Score |
0.7600 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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 family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality around E10 with generalized apoptotic degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
C |
T |
5: 8,788,747 (GRCm39) |
T1042I |
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,868,374 (GRCm39) |
T162A |
probably benign |
Het |
| Adamts7 |
T |
A |
9: 90,062,740 (GRCm39) |
I398N |
probably damaging |
Het |
| Cib2 |
A |
G |
9: 54,452,751 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
T |
C |
5: 145,377,177 (GRCm39) |
K470R |
probably benign |
Het |
| Dpy19l2 |
A |
G |
9: 24,569,924 (GRCm39) |
M343T |
probably benign |
Het |
| Dyrk2 |
A |
G |
10: 118,696,532 (GRCm39) |
V242A |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,315,017 (GRCm39) |
D55G |
probably benign |
Het |
| Fabp7 |
A |
G |
10: 57,661,772 (GRCm39) |
K82E |
possibly damaging |
Het |
| Fat1 |
G |
T |
8: 45,493,567 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
A |
G |
12: 11,299,165 (GRCm39) |
I280T |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1b2 |
CCGTGTTT |
C |
14: 62,643,628 (GRCm39) |
|
probably null |
Het |
| Il3ra |
G |
A |
14: 14,349,377 (GRCm38) |
|
probably null |
Het |
| Myo1f |
A |
G |
17: 33,795,641 (GRCm39) |
N66D |
probably damaging |
Het |
| Nfkb1 |
C |
T |
3: 135,319,704 (GRCm39) |
E264K |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,072 (GRCm39) |
R189L |
probably benign |
Het |
| Or7d10 |
G |
C |
9: 19,832,077 (GRCm39) |
D191H |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,260,418 (GRCm39) |
H624R |
possibly damaging |
Het |
| Rgs5 |
G |
T |
1: 169,504,451 (GRCm39) |
V34F |
possibly damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,990,048 (GRCm39) |
S116P |
probably benign |
Het |
| Septin1 |
T |
C |
7: 126,815,143 (GRCm39) |
|
probably null |
Het |
| Sh2b1 |
C |
T |
7: 126,070,651 (GRCm39) |
G350D |
probably damaging |
Het |
| Slc6a21 |
T |
C |
7: 44,929,750 (GRCm39) |
V107A |
probably benign |
Het |
| Trim26 |
C |
A |
17: 37,161,895 (GRCm39) |
H105N |
probably damaging |
Het |
| Trim71 |
A |
T |
9: 114,342,781 (GRCm39) |
D500E |
possibly damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,953 (GRCm39) |
|
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,227,940 (GRCm39) |
S99P |
probably damaging |
Het |
|
| Other mutations in Septin9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Septin9
|
APN |
11 |
117,243,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00230:Septin9
|
APN |
11 |
117,245,630 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01520:Septin9
|
APN |
11 |
117,243,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01905:Septin9
|
APN |
11 |
117,109,715 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02502:Septin9
|
APN |
11 |
117,181,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Septin9
|
UTSW |
11 |
117,247,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0825:Septin9
|
UTSW |
11 |
117,250,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Septin9
|
UTSW |
11 |
117,247,151 (GRCm39) |
unclassified |
probably benign |
|
|
R1581:Septin9
|
UTSW |
11 |
117,181,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Septin9
|
UTSW |
11 |
117,181,254 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1848:Septin9
|
UTSW |
11 |
117,243,909 (GRCm39) |
unclassified |
probably benign |
|
|
R2039:Septin9
|
UTSW |
11 |
117,242,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2763:Septin9
|
UTSW |
11 |
117,217,327 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3545:Septin9
|
UTSW |
11 |
117,243,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Septin9
|
UTSW |
11 |
117,243,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Septin9
|
UTSW |
11 |
117,251,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5139:Septin9
|
UTSW |
11 |
117,247,511 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5759:Septin9
|
UTSW |
11 |
117,243,094 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6062:Septin9
|
UTSW |
11 |
117,181,626 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6134:Septin9
|
UTSW |
11 |
117,242,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6509:Septin9
|
UTSW |
11 |
117,181,253 (GRCm39) |
missense |
probably benign |
|
|
R7562:Septin9
|
UTSW |
11 |
117,217,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7573:Septin9
|
UTSW |
11 |
117,090,571 (GRCm39) |
start gained |
probably benign |
|
|
R7592:Septin9
|
UTSW |
11 |
117,181,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Septin9
|
UTSW |
11 |
117,250,264 (GRCm39) |
nonsense |
probably null |
|
|
R8200:Septin9
|
UTSW |
11 |
117,123,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9118:Septin9
|
UTSW |
11 |
117,157,398 (GRCm39) |
missense |
probably benign |
|
|
R9131:Septin9
|
UTSW |
11 |
117,181,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9220:Septin9
|
UTSW |
11 |
117,242,396 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9241:Septin9
|
UTSW |
11 |
117,109,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9661:Septin9
|
UTSW |
11 |
117,245,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9735:Septin9
|
UTSW |
11 |
117,245,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACGCCACCTGGTTTTG -3'
(R):5'- CTTGTTACCTGGCAAAGTGTGG -3'
Sequencing Primer
(F):5'- CCACCTGGTTTTGCTGGG -3'
(R):5'- TTACCTGGCAAAGTGTGGGAAGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation