Incidental Mutation 'R5845:Septin2'
| ID |
453548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin2
|
| Ensembl Gene |
ENSMUSG00000026276 |
| Gene Name |
septin 2 |
| Synonyms |
Nedd5, Sept2 |
| MMRRC Submission |
044063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R5845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93406671-93437455 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 93426757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115536
(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 damaging
Transcript: ENSMUST00000027495
AA Change: I122N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: I122N
| 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 damaging
Transcript: ENSMUST00000112912
AA Change: I122N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: I122N
| 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 damaging
Transcript: ENSMUST00000129211
AA Change: I122N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: I122N
| 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 damaging
Transcript: ENSMUST00000131175
AA Change: I122N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: I122N
| 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 damaging
Transcript: ENSMUST00000136182
AA Change: I82N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276
AA Change: I82N
| 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 damaging
Transcript: ENSMUST00000142401
AA Change: I152N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276
AA Change: I152N
| 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 damaging
Transcript: ENSMUST00000150931
AA Change: I122N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: I122N
| 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 damaging
Transcript: ENSMUST00000168776
AA Change: I122N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: I122N
| 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 damaging
Transcript: ENSMUST00000172165
AA Change: I82N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: I82N
| 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 damaging
Transcript: ENSMUST00000179353
AA Change: I122N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: I122N
| 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 |
|
| Meta Mutation Damage Score |
0.9449 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,764,146 (GRCm39) |
Y928N |
probably benign |
Het |
| Amz2 |
T |
C |
11: 109,324,755 (GRCm39) |
F213S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,199,682 (GRCm39) |
S732C |
probably damaging |
Het |
| Ccnf |
C |
A |
17: 24,459,767 (GRCm39) |
D229Y |
possibly damaging |
Het |
| Cdon |
G |
T |
9: 35,368,762 (GRCm39) |
C332F |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,531,077 (GRCm39) |
R758C |
possibly damaging |
Het |
| Cyp2ab1 |
C |
T |
16: 20,131,082 (GRCm39) |
R349H |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,483,459 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,078,550 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,618 (GRCm39) |
R92K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,163,927 (GRCm39) |
S39G |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,916,582 (GRCm39) |
D701G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,186,840 (GRCm39) |
D1687G |
possibly damaging |
Het |
| Fcnb |
C |
T |
2: 27,969,633 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
T |
A |
1: 58,706,937 (GRCm39) |
E243D |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,519,558 (GRCm39) |
V636A |
unknown |
Het |
| Gm6124 |
A |
G |
7: 38,869,299 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
A |
5: 121,445,587 (GRCm39) |
|
probably null |
Het |
| Hrnr |
A |
T |
3: 93,239,944 (GRCm39) |
H3394L |
unknown |
Het |
| Hs1bp3 |
A |
G |
12: 8,386,275 (GRCm39) |
R226G |
probably benign |
Het |
| Ifngr2 |
T |
C |
16: 91,351,947 (GRCm39) |
V61A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,117,392 (GRCm39) |
M376I |
probably benign |
Het |
| Kcnk2 |
T |
C |
1: 189,009,918 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mgam |
T |
A |
6: 40,652,257 (GRCm39) |
N810K |
possibly damaging |
Het |
| Mis18a |
A |
G |
16: 90,518,522 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
G |
7: 64,521,936 (GRCm39) |
V244A |
possibly damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,406,367 (GRCm39) |
I313T |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,214,711 (GRCm39) |
V590D |
probably damaging |
Het |
| Prkab1 |
A |
T |
5: 116,162,219 (GRCm39) |
D30E |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,810,142 (GRCm39) |
N281Y |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Slc26a6 |
T |
G |
9: 108,739,282 (GRCm39) |
V609G |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,068,662 (GRCm39) |
M2154K |
probably damaging |
Het |
| Stoml2 |
T |
G |
4: 43,030,008 (GRCm39) |
|
probably benign |
Het |
| Sult6b1 |
A |
C |
17: 79,202,059 (GRCm39) |
S148A |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,847,860 (GRCm39) |
V335A |
probably damaging |
Het |
| Tmem221 |
T |
A |
8: 72,007,788 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,255,902 (GRCm39) |
Y186H |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,131,407 (GRCm39) |
I7T |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,929 (GRCm39) |
S961P |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,486 (GRCm39) |
D1138G |
probably benign |
Het |
| Ubr7 |
C |
T |
12: 102,732,571 (GRCm39) |
R188C |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,130,770 (GRCm39) |
P118S |
probably benign |
Het |
| Vdr |
C |
A |
15: 97,767,647 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zswim4 |
T |
A |
8: 84,943,871 (GRCm39) |
|
probably null |
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 |
|
R5898:Septin2
|
UTSW |
1 |
93,407,023 (GRCm39) |
missense |
probably benign |
|
|
R6122:Septin2
|
UTSW |
1 |
93,425,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Septin2
|
UTSW |
1 |
93,425,188 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- CCCCACGATTACTATTGAAATTTGT -3'
(R):5'- TGCCACACATTTAGGGAAAGC -3'
Sequencing Primer
(F):5'- AGATGACTGTGAGCATCCACTTCTG -3'
(R):5'- TTTAGGGAAAGCATAGAAACATACC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation