Incidental Mutation 'IGL02930:Ankef1'
| ID |
364059 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankef1
|
| Ensembl Gene |
ENSMUSG00000074771 |
| Gene Name |
ankyrin repeat and EF-hand domain containing 1 |
| Synonyms |
Ankrd5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
136374241-136397774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136392245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 478
(I478T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028726]
[ENSMUST00000121717]
[ENSMUST00000123214]
[ENSMUST00000149712]
[ENSMUST00000180246]
|
| AlphaFold |
Q9D2J7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028726
AA Change: I478T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: I478T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
6.92e-4 |
SMART |
|
ANK
|
80 |
109 |
5.21e1 |
SMART |
|
ANK
|
113 |
144 |
1.96e3 |
SMART |
|
ANK
|
148 |
179 |
1.07e2 |
SMART |
|
ANK
|
184 |
213 |
3.85e-2 |
SMART |
|
ANK
|
217 |
246 |
3.68e1 |
SMART |
|
ANK
|
250 |
279 |
2.28e-4 |
SMART |
|
Blast:ANK
|
283 |
312 |
9e-6 |
BLAST |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
ANK
|
524 |
553 |
1.19e-7 |
SMART |
|
ANK
|
557 |
586 |
4.63e-5 |
SMART |
|
ANK
|
590 |
619 |
1.54e-1 |
SMART |
|
Blast:ANK
|
623 |
652 |
4e-10 |
BLAST |
|
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121717
AA Change: I478T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: I478T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
6.92e-4 |
SMART |
|
ANK
|
80 |
109 |
5.21e1 |
SMART |
|
ANK
|
113 |
144 |
1.96e3 |
SMART |
|
ANK
|
148 |
179 |
1.07e2 |
SMART |
|
ANK
|
184 |
213 |
3.85e-2 |
SMART |
|
ANK
|
217 |
246 |
3.68e1 |
SMART |
|
ANK
|
250 |
279 |
2.28e-4 |
SMART |
|
Blast:ANK
|
283 |
312 |
9e-6 |
BLAST |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
ANK
|
524 |
553 |
1.19e-7 |
SMART |
|
ANK
|
557 |
586 |
4.63e-5 |
SMART |
|
ANK
|
590 |
619 |
1.54e-1 |
SMART |
|
Blast:ANK
|
623 |
652 |
4e-10 |
BLAST |
|
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123214
|
| SMART Domains |
Protein: ENSMUSP00000120000
Gene: ENSMUSG00000074771
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
6.92e-4 |
SMART |
|
ANK
|
80 |
109 |
5.21e1 |
SMART |
|
ANK
|
113 |
144 |
1.96e3 |
SMART |
|
ANK
|
148 |
179 |
1.07e2 |
SMART |
|
ANK
|
184 |
213 |
3.85e-2 |
SMART |
|
ANK
|
217 |
246 |
3.68e1 |
SMART |
|
ANK
|
250 |
279 |
2.28e-4 |
SMART |
|
Blast:ANK
|
283 |
312 |
4e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138967
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149712
|
| SMART Domains |
Protein: ENSMUSP00000114440
Gene: ENSMUSG00000074771
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
6.92e-4 |
SMART |
|
ANK
|
80 |
109 |
5.21e1 |
SMART |
|
ANK
|
113 |
144 |
1.96e3 |
SMART |
|
ANK
|
148 |
179 |
1.07e2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180246
AA Change: I478T
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: I478T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
6.92e-4 |
SMART |
|
ANK
|
80 |
109 |
5.21e1 |
SMART |
|
ANK
|
113 |
144 |
1.96e3 |
SMART |
|
ANK
|
148 |
179 |
1.07e2 |
SMART |
|
ANK
|
184 |
213 |
3.85e-2 |
SMART |
|
ANK
|
217 |
246 |
3.68e1 |
SMART |
|
ANK
|
250 |
279 |
2.28e-4 |
SMART |
|
Blast:ANK
|
283 |
312 |
9e-6 |
BLAST |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
ANK
|
524 |
553 |
1.19e-7 |
SMART |
|
ANK
|
557 |
586 |
4.63e-5 |
SMART |
|
ANK
|
590 |
619 |
1.54e-1 |
SMART |
|
Blast:ANK
|
623 |
652 |
4e-10 |
BLAST |
|
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
| Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
| Dnajc4 |
C |
A |
19: 6,966,801 (GRCm39) |
V176F |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,394,536 (GRCm39) |
N267D |
probably damaging |
Het |
| Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
| Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
| Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
| Gpc1 |
G |
T |
1: 92,785,021 (GRCm39) |
E355* |
probably null |
Het |
| Islr |
C |
T |
9: 58,065,483 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,548 (GRCm39) |
T39A |
probably benign |
Het |
| Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,990,865 (GRCm39) |
I271T |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
| Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
Het |
|
| Other mutations in Ankef1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01934:Ankef1
|
APN |
2 |
136,394,451 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02194:Ankef1
|
APN |
2 |
136,392,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02318:Ankef1
|
APN |
2 |
136,386,695 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02398:Ankef1
|
APN |
2 |
136,397,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1482:Ankef1
|
UTSW |
2 |
136,392,078 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1692:Ankef1
|
UTSW |
2 |
136,392,346 (GRCm39) |
missense |
probably benign |
|
|
R2045:Ankef1
|
UTSW |
2 |
136,396,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2074:Ankef1
|
UTSW |
2 |
136,387,658 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4952:Ankef1
|
UTSW |
2 |
136,392,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Ankef1
|
UTSW |
2 |
136,392,280 (GRCm39) |
splice site |
probably null |
|
|
R5113:Ankef1
|
UTSW |
2 |
136,394,361 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5743:Ankef1
|
UTSW |
2 |
136,391,629 (GRCm39) |
splice site |
probably null |
|
|
R6120:Ankef1
|
UTSW |
2 |
136,392,296 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6243:Ankef1
|
UTSW |
2 |
136,379,077 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7456:Ankef1
|
UTSW |
2 |
136,387,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7898:Ankef1
|
UTSW |
2 |
136,395,618 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8421:Ankef1
|
UTSW |
2 |
136,379,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Ankef1
|
UTSW |
2 |
136,395,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation