Incidental Mutation 'IGL00157:Septin9'
ID |
2017 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Septin9
|
Ensembl Gene |
ENSMUSG00000059248 |
Gene Name |
septin 9 |
Synonyms |
Msf, Sept9, MSF1, PNUTL4, SL3-3 integration site 1, Sint1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00157
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
117090487-117253151 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117243010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 66
(T66A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120382
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019038]
[ENSMUST00000093907]
[ENSMUST00000100193]
[ENSMUST00000106349]
[ENSMUST00000106354]
[ENSMUST00000127383]
[ENSMUST00000153668]
|
AlphaFold |
Q80UG5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019038
AA Change: T308A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019038 Gene: ENSMUSG00000059248 AA Change: T308A
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: T315A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091435 Gene: ENSMUSG00000059248 AA Change: T315A
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: T66A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097767 Gene: ENSMUSG00000059248 AA Change: T66A
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: T66A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101956 Gene: ENSMUSG00000059248 AA Change: T66A
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: T297A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101961 Gene: ENSMUSG00000059248 AA Change: T297A
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 damaging
Transcript: ENSMUST00000127383
AA Change: T85A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120065 Gene: ENSMUSG00000059248 AA Change: T85A
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 |
probably damaging
Transcript: ENSMUST00000153668
AA Change: T66A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120382 Gene: ENSMUSG00000059248 AA Change: T66A
Domain | Start | End | E-Value | Type |
Pfam:DUF258
|
16 |
74 |
1.2e-7 |
PFAM |
Pfam:Septin
|
44 |
74 |
4e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134852
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
A |
G |
7: 43,902,875 (GRCm39) |
V331A |
possibly damaging |
Het |
Casr |
C |
A |
16: 36,316,172 (GRCm39) |
V633F |
probably damaging |
Het |
Cblb |
T |
G |
16: 52,003,670 (GRCm39) |
V716G |
probably benign |
Het |
Cbln2 |
C |
T |
18: 86,734,509 (GRCm39) |
Q156* |
probably null |
Het |
Cnn1 |
G |
T |
9: 22,010,693 (GRCm39) |
L14F |
possibly damaging |
Het |
D830013O20Rik |
T |
C |
12: 73,411,021 (GRCm39) |
|
noncoding transcript |
Het |
Drd1 |
A |
G |
13: 54,207,897 (GRCm39) |
S99P |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,404,707 (GRCm39) |
V486A |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
Gm10735 |
T |
C |
13: 113,178,018 (GRCm39) |
|
probably benign |
Het |
H2-T5 |
A |
T |
17: 36,476,246 (GRCm39) |
|
probably null |
Het |
Jag2 |
T |
C |
12: 112,876,338 (GRCm39) |
T790A |
probably benign |
Het |
Klhdc1 |
T |
A |
12: 69,288,782 (GRCm39) |
Y31N |
possibly damaging |
Het |
Lama1 |
A |
T |
17: 68,122,923 (GRCm39) |
M2769L |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,933,896 (GRCm39) |
|
probably null |
Het |
Msrb2 |
C |
A |
2: 19,399,152 (GRCm39) |
P172T |
probably damaging |
Het |
Or8g35 |
A |
G |
9: 39,381,539 (GRCm39) |
V161A |
probably benign |
Het |
Or8k41 |
T |
C |
2: 86,313,562 (GRCm39) |
S175G |
probably benign |
Het |
Pcdhb9 |
T |
A |
18: 37,536,332 (GRCm39) |
D775E |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,637,098 (GRCm39) |
|
probably null |
Het |
Preb |
A |
T |
5: 31,113,308 (GRCm39) |
D375E |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,515,090 (GRCm39) |
I1010T |
probably damaging |
Het |
Rbp2 |
A |
G |
9: 98,380,950 (GRCm39) |
|
probably null |
Het |
Serpinb9b |
A |
T |
13: 33,219,608 (GRCm39) |
E178D |
probably benign |
Het |
Shld2 |
A |
G |
14: 33,990,582 (GRCm39) |
V108A |
probably benign |
Het |
Tg |
A |
G |
15: 66,719,015 (GRCm39) |
Y258C |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,483,731 (GRCm39) |
R548G |
probably benign |
Het |
Uba7 |
G |
A |
9: 107,856,310 (GRCm39) |
A536T |
probably benign |
Het |
Vmn2r114 |
G |
A |
17: 23,510,639 (GRCm39) |
P614S |
probably damaging |
Het |
Xpc |
A |
G |
6: 91,469,246 (GRCm39) |
|
probably benign |
Het |
Yrdc |
T |
C |
4: 124,747,754 (GRCm39) |
S86P |
probably damaging |
Het |
Zbed6 |
G |
T |
1: 133,585,114 (GRCm39) |
A741D |
probably damaging |
Het |
|
Other mutations in Septin9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R2409:Septin9
|
UTSW |
11 |
117,251,287 (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 |
|
Posted On |
2011-07-12 |