Incidental Mutation 'IGL01728:Ankib1'
| ID |
105382 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankib1
|
| Ensembl Gene |
ENSMUSG00000040351 |
| Gene Name |
ankyrin repeat and IBR domain containing 1 |
| Synonyms |
2310061P20Rik, 4631416I11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01728
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 3751992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043551]
[ENSMUST00000200335]
|
| AlphaFold |
Q6ZPS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043551
|
| SMART Domains |
Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
45 |
75 |
7.08e-1 |
SMART |
|
ANK
|
145 |
174 |
2.32e-5 |
SMART |
|
low complexity region
|
209 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
RING
|
334 |
382 |
9.73e-2 |
SMART |
|
IBR
|
403 |
479 |
8.72e-12 |
SMART |
|
IBR
|
502 |
566 |
2.59e-5 |
SMART |
|
RING
|
520 |
644 |
2.36e0 |
SMART |
|
low complexity region
|
764 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
|
UIM
|
846 |
865 |
3.62e-1 |
SMART |
|
low complexity region
|
905 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199043
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200335
|
| SMART Domains |
Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
45 |
75 |
4.5e-3 |
SMART |
|
ANK
|
145 |
174 |
1.4e-7 |
SMART |
|
low complexity region
|
209 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
RING
|
334 |
382 |
4.6e-4 |
SMART |
|
IBR
|
403 |
479 |
2.9e-14 |
SMART |
|
IBR
|
502 |
566 |
8.3e-8 |
SMART |
|
RING
|
520 |
644 |
1.1e-2 |
SMART |
|
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,029,074 (GRCm39) |
I71T |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,759,092 (GRCm39) |
M1T |
probably null |
Het |
| Brinp3 |
T |
G |
1: 146,707,289 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,087,085 (GRCm39) |
N138S |
possibly damaging |
Het |
| Dock7 |
G |
A |
4: 98,850,568 (GRCm39) |
T1588M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,051,115 (GRCm39) |
T479I |
probably damaging |
Het |
| Gpn2 |
T |
C |
4: 133,311,813 (GRCm39) |
I15T |
possibly damaging |
Het |
| H3c2 |
G |
A |
13: 23,936,712 (GRCm39) |
R117H |
probably benign |
Het |
| Haao |
A |
G |
17: 84,142,658 (GRCm39) |
F149S |
probably damaging |
Het |
| Iqsec3 |
T |
A |
6: 121,389,623 (GRCm39) |
|
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,373,149 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,837,783 (GRCm39) |
S1199I |
probably damaging |
Het |
| Mageb3 |
G |
T |
2: 121,784,941 (GRCm39) |
P254T |
probably damaging |
Het |
| Mapkbp1 |
C |
T |
2: 119,854,302 (GRCm39) |
P1300S |
probably damaging |
Het |
| Mtfmt |
T |
A |
9: 65,343,100 (GRCm39) |
L2H |
probably damaging |
Het |
| Myo18a |
G |
T |
11: 77,668,682 (GRCm39) |
G181W |
probably damaging |
Het |
| Mzf1 |
T |
C |
7: 12,785,654 (GRCm39) |
|
probably benign |
Het |
| Nfatc2 |
A |
T |
2: 168,378,162 (GRCm39) |
L280Q |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,760,736 (GRCm39) |
|
probably null |
Het |
| Or51k2 |
T |
C |
7: 103,595,959 (GRCm39) |
F62S |
probably damaging |
Het |
| Or8b53 |
A |
G |
9: 38,667,391 (GRCm39) |
M136V |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,677,805 (GRCm39) |
V721A |
probably damaging |
Het |
| Pbp2 |
G |
T |
6: 135,287,073 (GRCm39) |
N91K |
probably damaging |
Het |
| Pde7b |
C |
A |
10: 20,310,210 (GRCm39) |
|
probably null |
Het |
| Pramel7 |
C |
A |
2: 87,321,674 (GRCm39) |
E120D |
possibly damaging |
Het |
| Rbbp5 |
C |
T |
1: 132,425,818 (GRCm39) |
T516M |
probably benign |
Het |
| Slc16a12 |
A |
G |
19: 34,668,071 (GRCm39) |
V28A |
possibly damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,721,802 (GRCm39) |
F276S |
probably damaging |
Het |
| Spata9 |
A |
T |
13: 76,141,193 (GRCm39) |
I147L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,545,271 (GRCm39) |
Y2429F |
probably damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,312,564 (GRCm39) |
S212P |
probably benign |
Het |
| Unc5cl |
A |
T |
17: 48,766,991 (GRCm39) |
I122F |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,131,943 (GRCm39) |
F2350I |
probably damaging |
Het |
|
| Other mutations in Ankib1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Ankib1
|
APN |
5 |
3,777,573 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01329:Ankib1
|
APN |
5 |
3,784,194 (GRCm39) |
splice site |
probably benign |
|
|
IGL01372:Ankib1
|
APN |
5 |
3,822,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01593:Ankib1
|
APN |
5 |
3,782,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01613:Ankib1
|
APN |
5 |
3,763,146 (GRCm39) |
nonsense |
probably null |
|
|
IGL01782:Ankib1
|
APN |
5 |
3,777,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01878:Ankib1
|
APN |
5 |
3,784,152 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02730:Ankib1
|
APN |
5 |
3,752,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02742:Ankib1
|
APN |
5 |
3,743,479 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02873:Ankib1
|
APN |
5 |
3,822,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Ankib1
|
UTSW |
5 |
3,819,588 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0242:Ankib1
|
UTSW |
5 |
3,750,344 (GRCm39) |
splice site |
probably benign |
|
|
R0564:Ankib1
|
UTSW |
5 |
3,779,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0632:Ankib1
|
UTSW |
5 |
3,822,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0732:Ankib1
|
UTSW |
5 |
3,763,163 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1678:Ankib1
|
UTSW |
5 |
3,756,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1816:Ankib1
|
UTSW |
5 |
3,784,028 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2165:Ankib1
|
UTSW |
5 |
3,763,210 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3434:Ankib1
|
UTSW |
5 |
3,742,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Ankib1
|
UTSW |
5 |
3,784,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4745:Ankib1
|
UTSW |
5 |
3,782,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Ankib1
|
UTSW |
5 |
3,751,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Ankib1
|
UTSW |
5 |
3,819,652 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4989:Ankib1
|
UTSW |
5 |
3,763,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5022:Ankib1
|
UTSW |
5 |
3,784,011 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5057:Ankib1
|
UTSW |
5 |
3,784,011 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5510:Ankib1
|
UTSW |
5 |
3,779,693 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5606:Ankib1
|
UTSW |
5 |
3,751,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Ankib1
|
UTSW |
5 |
3,743,217 (GRCm39) |
missense |
probably benign |
|
|
R5929:Ankib1
|
UTSW |
5 |
3,819,633 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5986:Ankib1
|
UTSW |
5 |
3,797,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6281:Ankib1
|
UTSW |
5 |
3,751,965 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6336:Ankib1
|
UTSW |
5 |
3,750,377 (GRCm39) |
nonsense |
probably null |
|
|
R6377:Ankib1
|
UTSW |
5 |
3,743,855 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7001:Ankib1
|
UTSW |
5 |
3,744,781 (GRCm39) |
missense |
probably benign |
|
|
R7264:Ankib1
|
UTSW |
5 |
3,805,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Ankib1
|
UTSW |
5 |
3,772,576 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7402:Ankib1
|
UTSW |
5 |
3,819,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7491:Ankib1
|
UTSW |
5 |
3,751,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Ankib1
|
UTSW |
5 |
3,805,734 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7562:Ankib1
|
UTSW |
5 |
3,797,021 (GRCm39) |
missense |
probably null |
1.00 |
|
R8116:Ankib1
|
UTSW |
5 |
3,752,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Ankib1
|
UTSW |
5 |
3,797,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Ankib1
|
UTSW |
5 |
3,822,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8750:Ankib1
|
UTSW |
5 |
3,752,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8854:Ankib1
|
UTSW |
5 |
3,777,489 (GRCm39) |
missense |
probably null |
0.97 |
|
R9032:Ankib1
|
UTSW |
5 |
3,819,641 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9180:Ankib1
|
UTSW |
5 |
3,756,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:Ankib1
|
UTSW |
5 |
3,822,523 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9474:Ankib1
|
UTSW |
5 |
3,805,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9504:Ankib1
|
UTSW |
5 |
3,763,235 (GRCm39) |
missense |
probably benign |
|
|
R9564:Ankib1
|
UTSW |
5 |
3,805,733 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1088:Ankib1
|
UTSW |
5 |
3,763,137 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Ankib1
|
UTSW |
5 |
3,763,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ankib1
|
UTSW |
5 |
3,742,763 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation