Incidental Mutation 'R6122:Septin2'
| ID |
485749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin2
|
| Ensembl Gene |
ENSMUSG00000026276 |
| Gene Name |
septin 2 |
| Synonyms |
Nedd5, Sept2 |
| MMRRC Submission |
044269-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R6122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93406671-93437455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93425098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 45
(T45A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127276
(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: T85A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027495
Gene: ENSMUSG00000026276
AA Change: T85A
| 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: T85A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108534
Gene: ENSMUSG00000026276
AA Change: T85A
| 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: T85A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120511
Gene: ENSMUSG00000026276
AA Change: T85A
| 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: T85A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120694
Gene: ENSMUSG00000026276
AA Change: T85A
| 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 |
possibly damaging
Transcript: ENSMUST00000136182
AA Change: T45A
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118621
Gene: ENSMUSG00000026276
AA Change: T45A
| 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: T115A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121974
Gene: ENSMUSG00000026276
AA Change: T115A
| 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 damaging
Transcript: ENSMUST00000149532
AA Change: T85A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115536
Gene: ENSMUSG00000026276
AA Change: T85A
| 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: T85A
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117517
Gene: ENSMUSG00000026276
AA Change: T85A
| 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: T85A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132850
Gene: ENSMUSG00000116048
AA Change: T85A
| 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: T45A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127276
Gene: ENSMUSG00000116048
AA Change: T45A
| 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: T85A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136366
Gene: ENSMUSG00000116048
AA Change: T85A
| 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 |
0.2234 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,750 (GRCm39) |
*301W |
probably null |
Het |
| Abat |
A |
G |
16: 8,423,414 (GRCm39) |
I236V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,961,249 (GRCm39) |
T558A |
probably benign |
Het |
| Ace3 |
A |
C |
11: 105,885,764 (GRCm39) |
M57L |
probably benign |
Het |
| Adgrg1 |
T |
C |
8: 95,729,129 (GRCm39) |
S18P |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,934,064 (GRCm39) |
D60G |
probably benign |
Het |
| Ap4e1 |
T |
A |
2: 126,870,080 (GRCm39) |
|
probably null |
Het |
| Arnt2 |
C |
A |
7: 84,010,773 (GRCm39) |
K34N |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,494,021 (GRCm39) |
M152K |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,051 (GRCm39) |
F480L |
probably benign |
Het |
| Blvrb |
G |
A |
7: 27,158,773 (GRCm39) |
A58T |
possibly damaging |
Het |
| Bpifa1 |
C |
T |
2: 153,985,892 (GRCm39) |
T69I |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,320,997 (GRCm39) |
M1366L |
probably benign |
Het |
| Ccdc82 |
A |
G |
9: 13,266,880 (GRCm39) |
I361V |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,631,927 (GRCm39) |
I193F |
possibly damaging |
Het |
| Crb1 |
A |
T |
1: 139,176,686 (GRCm39) |
Y371* |
probably null |
Het |
| Cul9 |
T |
C |
17: 46,832,854 (GRCm39) |
D1363G |
possibly damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,877 (GRCm39) |
A490T |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,086,637 (GRCm39) |
S780T |
probably benign |
Het |
| Fzd5 |
G |
T |
1: 64,774,815 (GRCm39) |
C315* |
probably null |
Het |
| Gabrr1 |
T |
C |
4: 33,161,695 (GRCm39) |
S340P |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 57,979,200 (GRCm39) |
D641G |
probably damaging |
Het |
| Gm7133 |
A |
G |
1: 97,110,948 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5b |
A |
G |
17: 79,120,602 (GRCm39) |
L774P |
possibly damaging |
Het |
| Itch |
T |
A |
2: 155,015,985 (GRCm39) |
S157T |
probably benign |
Het |
| Itgam |
A |
C |
7: 127,684,824 (GRCm39) |
D398A |
probably damaging |
Het |
| Kalrn |
G |
T |
16: 33,805,561 (GRCm39) |
L2659M |
possibly damaging |
Het |
| Kcnj14 |
C |
A |
7: 45,468,875 (GRCm39) |
R210L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,758,573 (GRCm39) |
|
probably benign |
Het |
| Krt1c |
G |
C |
15: 101,724,349 (GRCm39) |
T305S |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,342,441 (GRCm39) |
N1645D |
probably damaging |
Het |
| Naf1 |
T |
A |
8: 67,336,096 (GRCm39) |
I341K |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,937,317 (GRCm39) |
H765N |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,975,278 (GRCm39) |
I776V |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,824,291 (GRCm39) |
D712E |
probably benign |
Het |
| Neu1 |
G |
A |
17: 35,153,730 (GRCm39) |
V385I |
probably benign |
Het |
| Or14j3 |
C |
A |
17: 37,900,817 (GRCm39) |
R142S |
probably benign |
Het |
| Or51a6 |
C |
A |
7: 102,604,011 (GRCm39) |
G273C |
probably damaging |
Het |
| Or51a6 |
A |
G |
7: 102,604,737 (GRCm39) |
Y24H |
probably benign |
Het |
| Pgghg |
A |
C |
7: 140,523,308 (GRCm39) |
T196P |
possibly damaging |
Het |
| Pira2 |
A |
T |
7: 3,845,445 (GRCm39) |
V313E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,809,107 (GRCm39) |
R28G |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,509 (GRCm39) |
N21K |
probably damaging |
Het |
| Prune1 |
T |
C |
3: 95,169,554 (GRCm39) |
D216G |
probably benign |
Het |
| Ptpn23 |
G |
T |
9: 110,216,893 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,301,351 (GRCm39) |
M668K |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpsa |
G |
T |
9: 119,960,102 (GRCm39) |
V222L |
probably benign |
Het |
| Slc12a8 |
A |
T |
16: 33,445,384 (GRCm39) |
D260V |
probably damaging |
Het |
| Srrm2 |
G |
T |
17: 24,039,330 (GRCm39) |
M2087I |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,700,306 (GRCm39) |
L88P |
probably damaging |
Het |
| Tns1 |
A |
G |
1: 73,991,578 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
T |
9: 103,224,160 (GRCm39) |
D1429V |
probably benign |
Het |
| Tprg1 |
A |
G |
16: 25,241,151 (GRCm39) |
|
probably null |
Het |
| Trit1 |
T |
C |
4: 122,933,261 (GRCm39) |
I66T |
possibly damaging |
Het |
| Usf3 |
A |
T |
16: 44,037,670 (GRCm39) |
I717L |
probably damaging |
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 |
|
R5845:Septin2
|
UTSW |
1 |
93,426,757 (GRCm39) |
splice site |
probably null |
|
|
R5898:Septin2
|
UTSW |
1 |
93,407,023 (GRCm39) |
missense |
probably benign |
|
|
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'- ACTTTCTGAGACCTTCCAAGTCATC -3'
(R):5'- GATCCGGCAACTTTAAGTGTTG -3'
Sequencing Primer
(F):5'- TTGAACTCAGAAATCTGCCTGC -3'
(R):5'- CAACTTTAAGTGTTGCTAACATTGTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation