Incidental Mutation 'IGL02194:Ankef1'
| ID |
283997 |
| 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 # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
136374241-136397774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136392429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 539
(D539E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028726]
[ENSMUST00000121717]
[ENSMUST00000123214]
[ENSMUST00000149712]
[ENSMUST00000180246]
|
| AlphaFold |
Q9D2J7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028726
AA Change: D539E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: D539E
| 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: ENSMUST00000121717
AA Change: D539E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: D539E
| 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 |
probably benign
Transcript: ENSMUST00000180246
AA Change: D539E
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: D539E
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
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 |
|
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 |
|
IGL02930:Ankef1
|
APN |
2 |
136,392,245 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
2015-04-16 |
Incidental Mutation