Incidental Mutation 'R4196:Septin4'
| ID |
318571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin4
|
| Ensembl Gene |
ENSMUSG00000020486 |
| Gene Name |
septin 4 |
| Synonyms |
Gm11492, ARTS, septin H5, cell division control-related protein 2b, Sept4, Bh5, Pnutl2 |
| MMRRC Submission |
041027-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.796)
|
| Stock # |
R4196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87457515-87481365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87479598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 239
(D239E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018544]
[ENSMUST00000063156]
[ENSMUST00000092802]
[ENSMUST00000103179]
[ENSMUST00000107960]
[ENSMUST00000107961]
[ENSMUST00000107962]
[ENSMUST00000133202]
[ENSMUST00000122067]
[ENSMUST00000123105]
[ENSMUST00000122945]
[ENSMUST00000119628]
[ENSMUST00000146871]
|
| AlphaFold |
P28661
Q5ND19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018544
AA Change: D239E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000018544
Gene: ENSMUSG00000020486
AA Change: D239E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
108 |
N/A |
INTRINSIC |
|
Pfam:Septin
|
141 |
421 |
1.8e-130 |
PFAM |
|
Pfam:MMR_HSR1
|
146 |
290 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063156
AA Change: D140E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000060127
Gene: ENSMUSG00000020486
AA Change: D140E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
26 |
142 |
7.5e-7 |
PFAM |
|
Pfam:Septin
|
42 |
322 |
7.5e-131 |
PFAM |
|
Pfam:MMR_HSR1
|
47 |
211 |
5.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092802
|
| SMART Domains |
Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
507 |
4.2e-137 |
PFAM |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
coiled coil region
|
961 |
991 |
N/A |
INTRINSIC |
|
FYVE
|
1044 |
1113 |
2.08e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103179
|
| SMART Domains |
Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
126 |
521 |
8.1e-149 |
PFAM |
|
low complexity region
|
990 |
1002 |
N/A |
INTRINSIC |
|
coiled coil region
|
1018 |
1048 |
N/A |
INTRINSIC |
|
FYVE
|
1101 |
1170 |
2.08e-31 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107960
AA Change: D239E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103594
Gene: ENSMUSG00000020486
AA Change: D239E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
108 |
N/A |
INTRINSIC |
|
Pfam:Septin
|
141 |
421 |
1.1e-130 |
PFAM |
|
Pfam:MMR_HSR1
|
146 |
293 |
7.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107961
AA Change: D133E
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103595
Gene: ENSMUSG00000020486
AA Change: D133E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
19 |
135 |
1e-7 |
PFAM |
|
Pfam:Septin
|
35 |
232 |
1.9e-89 |
PFAM |
|
Pfam:MMR_HSR1
|
40 |
204 |
1.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107962
AA Change: D220E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103596
Gene: ENSMUSG00000020486
AA Change: D220E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
89 |
N/A |
INTRINSIC |
|
Pfam:Septin
|
122 |
402 |
1.3e-130 |
PFAM |
|
Pfam:MMR_HSR1
|
127 |
273 |
8.3e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133202
AA Change: D229E
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115790
Gene: ENSMUSG00000020486
AA Change: D229E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
98 |
N/A |
INTRINSIC |
|
Pfam:DUF258
|
114 |
232 |
1.4e-7 |
PFAM |
|
Pfam:Septin
|
131 |
280 |
1.2e-72 |
PFAM |
|
Pfam:MMR_HSR1
|
136 |
279 |
2.2e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133638
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122067
AA Change: D121E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112960
Gene: ENSMUSG00000020486
AA Change: D121E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
8 |
124 |
5.3e-7 |
PFAM |
|
Pfam:Septin
|
23 |
303 |
3.9e-131 |
PFAM |
|
Pfam:MMR_HSR1
|
28 |
172 |
4e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122945
|
| SMART Domains |
Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
101 |
N/A |
INTRINSIC |
|
Pfam:DUF258
|
116 |
212 |
2.4e-7 |
PFAM |
|
Pfam:Septin
|
134 |
213 |
9.1e-31 |
PFAM |
|
Pfam:MMR_HSR1
|
139 |
213 |
5.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119628
|
| SMART Domains |
Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myotub-related
|
127 |
519 |
1.5e-135 |
PFAM |
|
low complexity region
|
990 |
1002 |
N/A |
INTRINSIC |
|
coiled coil region
|
1018 |
1048 |
N/A |
INTRINSIC |
|
FYVE
|
1101 |
1170 |
2.08e-31 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148216
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146871
|
| Meta Mutation Damage Score |
0.1868 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (39/39) |
| 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 of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null males are sterile and have immotile and structurally defective sperm that is bent and lacks the annulus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,676,931 (GRCm39) |
L152R |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,392,409 (GRCm39) |
K472E |
possibly damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,211 (GRCm39) |
V126A |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,958,200 (GRCm39) |
Y1014C |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,123,684 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,154,382 (GRCm39) |
|
probably benign |
Het |
| Cnot2 |
A |
T |
10: 116,337,209 (GRCm39) |
N221K |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,573,133 (GRCm39) |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,186 (GRCm39) |
V675A |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,755,353 (GRCm39) |
N1295K |
probably damaging |
Het |
| Elp3 |
A |
G |
14: 65,785,451 (GRCm39) |
L450P |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,383,014 (GRCm39) |
D328N |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,699 (GRCm39) |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,446,689 (GRCm39) |
F2360L |
possibly damaging |
Het |
| Gm2396 |
A |
G |
9: 88,799,715 (GRCm39) |
|
noncoding transcript |
Het |
| Gulo |
G |
T |
14: 66,225,702 (GRCm39) |
P375T |
possibly damaging |
Het |
| Hspd1 |
T |
C |
1: 55,126,068 (GRCm39) |
M11V |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,598,671 (GRCm39) |
T243A |
probably benign |
Het |
| Lipg |
C |
T |
18: 75,078,902 (GRCm39) |
R450H |
probably damaging |
Het |
| Lrp3 |
T |
A |
7: 34,902,835 (GRCm39) |
S504C |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,940,254 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,488,556 (GRCm39) |
V564A |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,138 (GRCm39) |
T110A |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,859,929 (GRCm39) |
I560F |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,582 (GRCm39) |
T174A |
probably benign |
Het |
| Ptprg |
A |
T |
14: 12,122,002 (GRCm38) |
T289S |
possibly damaging |
Het |
| Rab11fip2 |
T |
C |
19: 59,924,213 (GRCm39) |
T222A |
probably damaging |
Het |
| Rhbdd3 |
G |
T |
11: 5,049,460 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,083,604 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
A |
17: 85,368,306 (GRCm39) |
W525R |
probably damaging |
Het |
| Trim75 |
A |
G |
8: 65,435,416 (GRCm39) |
S345P |
probably damaging |
Het |
| Usp5 |
C |
T |
6: 124,801,901 (GRCm39) |
E72K |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,723,237 (GRCm39) |
M226K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,160,457 (GRCm39) |
V697E |
probably damaging |
Het |
| Zbtb9 |
C |
T |
17: 27,192,853 (GRCm39) |
T86I |
probably benign |
Het |
|
| Other mutations in Septin4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Septin4
|
APN |
11 |
87,480,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00963:Septin4
|
APN |
11 |
87,474,199 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01803:Septin4
|
APN |
11 |
87,459,075 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01993:Septin4
|
APN |
11 |
87,458,555 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02566:Septin4
|
APN |
11 |
87,458,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03087:Septin4
|
APN |
11 |
87,476,071 (GRCm39) |
splice site |
probably benign |
|
|
IGL03213:Septin4
|
APN |
11 |
87,458,184 (GRCm39) |
splice site |
probably null |
|
|
IGL03268:Septin4
|
APN |
11 |
87,480,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03388:Septin4
|
APN |
11 |
87,459,042 (GRCm39) |
nonsense |
probably null |
|
|
R0050:Septin4
|
UTSW |
11 |
87,458,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Septin4
|
UTSW |
11 |
87,472,022 (GRCm39) |
missense |
probably benign |
|
|
R1479:Septin4
|
UTSW |
11 |
87,458,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1730:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1739:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1762:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1783:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1784:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1785:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1851:Septin4
|
UTSW |
11 |
87,459,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Septin4
|
UTSW |
11 |
87,458,061 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1913:Septin4
|
UTSW |
11 |
87,457,838 (GRCm39) |
missense |
probably benign |
|
|
R1957:Septin4
|
UTSW |
11 |
87,481,193 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2131:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2133:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2140:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2141:Septin4
|
UTSW |
11 |
87,474,262 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2252:Septin4
|
UTSW |
11 |
87,480,637 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3149:Septin4
|
UTSW |
11 |
87,458,070 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3176:Septin4
|
UTSW |
11 |
87,458,070 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3276:Septin4
|
UTSW |
11 |
87,458,070 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3696:Septin4
|
UTSW |
11 |
87,476,060 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4018:Septin4
|
UTSW |
11 |
87,475,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Septin4
|
UTSW |
11 |
87,458,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4117:Septin4
|
UTSW |
11 |
87,459,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Septin4
|
UTSW |
11 |
87,474,142 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4332:Septin4
|
UTSW |
11 |
87,458,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4515:Septin4
|
UTSW |
11 |
87,458,883 (GRCm39) |
missense |
probably benign |
|
|
R4663:Septin4
|
UTSW |
11 |
87,458,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4952:Septin4
|
UTSW |
11 |
87,458,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5012:Septin4
|
UTSW |
11 |
87,475,230 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5015:Septin4
|
UTSW |
11 |
87,458,043 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5149:Septin4
|
UTSW |
11 |
87,480,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Septin4
|
UTSW |
11 |
87,458,358 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5711:Septin4
|
UTSW |
11 |
87,458,723 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5891:Septin4
|
UTSW |
11 |
87,479,750 (GRCm39) |
unclassified |
probably benign |
|
|
R6090:Septin4
|
UTSW |
11 |
87,480,343 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6145:Septin4
|
UTSW |
11 |
87,476,072 (GRCm39) |
splice site |
probably null |
|
|
R6257:Septin4
|
UTSW |
11 |
87,481,175 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6305:Septin4
|
UTSW |
11 |
87,458,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6704:Septin4
|
UTSW |
11 |
87,479,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7064:Septin4
|
UTSW |
11 |
87,481,193 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7090:Septin4
|
UTSW |
11 |
87,475,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Septin4
|
UTSW |
11 |
87,469,834 (GRCm39) |
missense |
probably benign |
|
|
R7790:Septin4
|
UTSW |
11 |
87,480,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Septin4
|
UTSW |
11 |
87,480,560 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9289:Septin4
|
UTSW |
11 |
87,459,792 (GRCm39) |
nonsense |
probably null |
|
|
R9613:Septin4
|
UTSW |
11 |
87,469,823 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
T0970:Septin4
|
UTSW |
11 |
87,458,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Septin4
|
UTSW |
11 |
87,458,748 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAAACTACCTGTGTACCTGTGTC -3'
(R):5'- AATCAGTGACCACCCGCTAG -3'
Sequencing Primer
(F):5'- GTCATTTTCTCTCAAGACCCGAAAC -3'
(R):5'- TAGTGGTAGCCCTGCCCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation