Incidental Mutation 'R9661:Septin9'
| ID |
727592 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9661 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
117090487-117253151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 117245751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 458
(R458G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019038]
[ENSMUST00000093907]
[ENSMUST00000100193]
[ENSMUST00000106349]
[ENSMUST00000106354]
[ENSMUST00000127383]
[ENSMUST00000153668]
|
| AlphaFold |
Q80UG5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019038
AA Change: R451G
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: R451G
| 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 |
possibly damaging
Transcript: ENSMUST00000093907
AA Change: R458G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: R458G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
293 |
572 |
1.6e-112 |
PFAM |
|
Pfam:MMR_HSR1
|
298 |
444 |
3e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100193
AA Change: R209G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097767
Gene: ENSMUSG00000059248
AA Change: R209G
| 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 |
possibly damaging
Transcript: ENSMUST00000106349
AA Change: R209G
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101956
Gene: ENSMUSG00000059248
AA Change: R209G
| 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 |
possibly damaging
Transcript: ENSMUST00000106354
AA Change: R440G
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: R440G
| 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 |
possibly damaging
Transcript: ENSMUST00000127383
AA Change: R228G
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120065
Gene: ENSMUSG00000059248
AA Change: R228G
| 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 benign
Transcript: ENSMUST00000153668
|
| SMART Domains |
Protein: ENSMUSP00000120382
Gene: ENSMUSG00000059248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
16 |
74 |
1.2e-7 |
PFAM |
|
Pfam:Septin
|
44 |
74 |
4e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,451 (GRCm39) |
H445Q |
possibly damaging |
Het |
| Aadacl4 |
C |
A |
4: 144,340,287 (GRCm39) |
P4Q |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,748,368 (GRCm39) |
T523A |
possibly damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,168,531 (GRCm39) |
E838G |
probably benign |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Card10 |
C |
T |
15: 78,683,318 (GRCm39) |
R275H |
probably damaging |
Het |
| Cdh16 |
A |
G |
8: 105,345,612 (GRCm39) |
V327A |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,429,151 (GRCm39) |
Q159L |
|
Het |
| D630003M21Rik |
A |
G |
2: 158,047,673 (GRCm39) |
L732P |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,098,579 (GRCm39) |
I308V |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,340,393 (GRCm39) |
F702L |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,386,730 (GRCm39) |
Y188C |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,862,742 (GRCm39) |
L888S |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,469,531 (GRCm39) |
|
probably null |
Het |
| Fam186a |
T |
A |
15: 99,842,492 (GRCm39) |
I1251F |
possibly damaging |
Het |
| Fer1l4 |
G |
A |
2: 155,862,336 (GRCm39) |
A1779V |
probably damaging |
Het |
| Fgfrl1 |
C |
T |
5: 108,853,841 (GRCm39) |
T407I |
probably benign |
Het |
| Gkn1 |
T |
C |
6: 87,325,173 (GRCm39) |
K79E |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,706,247 (GRCm39) |
R61H |
unknown |
Het |
| Gpr107 |
T |
C |
2: 31,057,075 (GRCm39) |
F56L |
probably benign |
Het |
| H2-T22 |
T |
C |
17: 36,353,371 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
T |
C |
12: 8,367,940 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,801,963 (GRCm39) |
I37T |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,836 (GRCm39) |
|
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,403,650 (GRCm39) |
I591T |
probably benign |
Het |
| Lrrc49 |
A |
T |
9: 60,573,582 (GRCm39) |
I300N |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,808,779 (GRCm39) |
T150A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,041,857 (GRCm39) |
Q722R |
|
Het |
| Nek9 |
T |
C |
12: 85,361,253 (GRCm39) |
Q484R |
possibly damaging |
Het |
| Nfs1 |
A |
T |
2: 155,970,473 (GRCm39) |
V280E |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,373,792 (GRCm39) |
D472V |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,450 (GRCm39) |
V273A |
probably damaging |
Het |
| Nudt12 |
T |
C |
17: 59,316,981 (GRCm39) |
D222G |
probably benign |
Het |
| Nup98 |
G |
A |
7: 101,782,019 (GRCm39) |
Q1204* |
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,780 (GRCm39) |
Y370F |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,904,230 (GRCm39) |
I548N |
unknown |
Het |
| Ogfr |
A |
T |
2: 180,233,431 (GRCm39) |
N78Y |
probably damaging |
Het |
| Or10ak11 |
A |
T |
4: 118,687,526 (GRCm39) |
L36Q |
probably benign |
Het |
| Prkcq |
A |
T |
2: 11,250,141 (GRCm39) |
K153* |
probably null |
Het |
| Ptpdc1 |
T |
A |
13: 48,739,610 (GRCm39) |
N607I |
probably benign |
Het |
| Rab5c |
G |
T |
11: 100,606,917 (GRCm39) |
Q221K |
probably benign |
Het |
| Ret |
G |
A |
6: 118,150,437 (GRCm39) |
T693I |
probably benign |
Het |
| Rnf20 |
A |
G |
4: 49,654,556 (GRCm39) |
E871G |
probably damaging |
Het |
| Rtl1 |
G |
T |
12: 109,557,346 (GRCm39) |
P1498T |
possibly damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,756,788 (GRCm39) |
|
probably null |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc16a4 |
T |
A |
3: 107,213,359 (GRCm39) |
D451E |
probably benign |
Het |
| Slc36a3 |
A |
G |
11: 55,015,984 (GRCm39) |
F390S |
probably benign |
Het |
| Slc4a2 |
T |
A |
5: 24,640,005 (GRCm39) |
M576K |
probably damaging |
Het |
| Smim14 |
T |
C |
5: 65,610,533 (GRCm39) |
H88R |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Sspo |
C |
T |
6: 48,455,272 (GRCm39) |
Q3045* |
probably null |
Het |
| Supt7l |
C |
A |
5: 31,680,403 (GRCm39) |
R3M |
probably damaging |
Het |
| Tjap1 |
A |
G |
17: 46,571,092 (GRCm39) |
W132R |
probably damaging |
Het |
| Tmem26 |
T |
A |
10: 68,559,838 (GRCm39) |
W37R |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,937,332 (GRCm39) |
D1155G |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,224 (GRCm39) |
V53M |
possibly damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,166 (GRCm39) |
N805K |
probably benign |
Het |
| Zfp638 |
T |
C |
6: 83,923,320 (GRCm39) |
V706A |
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 |
|
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 |
|
R9735:Septin9
|
UTSW |
11 |
117,245,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTGCTCACCCTACTAAGGC -3'
(R):5'- ACTGAGACGGCTGGATATGG -3'
Sequencing Primer
(F):5'- CCTTACCCCTCCATCAACATG -3'
(R):5'- CGGCTGGATATGGGGAGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation