Incidental Mutation 'IGL01613:Ankib1'
ID |
92257 |
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 # |
IGL01613
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 3763146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 528
(Q528*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043551]
[ENSMUST00000200335]
|
AlphaFold |
Q6ZPS6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043551
AA Change: Q528*
|
SMART Domains |
Protein: ENSMUSP00000040946 Gene: ENSMUSG00000040351 AA Change: Q528*
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 |
probably null
Transcript: ENSMUST00000200335
AA Change: Q528*
|
SMART Domains |
Protein: ENSMUSP00000142687 Gene: ENSMUSG00000040351 AA Change: Q528*
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
G |
5: 125,589,716 (GRCm39) |
M446R |
possibly damaging |
Het |
Abca16 |
A |
G |
7: 120,140,500 (GRCm39) |
N1599S |
probably benign |
Het |
Ano10 |
A |
T |
9: 122,088,606 (GRCm39) |
L347M |
possibly damaging |
Het |
Bag6 |
T |
C |
17: 35,361,992 (GRCm39) |
|
probably benign |
Het |
Bpnt1 |
T |
C |
1: 185,086,191 (GRCm39) |
V182A |
possibly damaging |
Het |
Capn13 |
G |
T |
17: 73,638,053 (GRCm39) |
T450N |
probably benign |
Het |
Cbr3 |
A |
T |
16: 93,480,331 (GRCm39) |
E40V |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,955,126 (GRCm39) |
I159T |
probably damaging |
Het |
Cela3b |
T |
C |
4: 137,152,382 (GRCm39) |
D65G |
possibly damaging |
Het |
Csf2rb |
T |
G |
15: 78,219,502 (GRCm39) |
|
probably benign |
Het |
Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
Dpp9 |
T |
C |
17: 56,497,713 (GRCm39) |
H687R |
probably benign |
Het |
Elovl1 |
T |
C |
4: 118,288,467 (GRCm39) |
V108A |
probably benign |
Het |
Emb |
T |
A |
13: 117,408,614 (GRCm39) |
N318K |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,617,339 (GRCm39) |
L36P |
probably damaging |
Het |
Esco2 |
T |
G |
14: 66,064,044 (GRCm39) |
H380P |
possibly damaging |
Het |
Gm9747 |
G |
A |
1: 82,211,809 (GRCm39) |
|
probably benign |
Het |
Golga1 |
A |
G |
2: 38,910,138 (GRCm39) |
M603T |
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,550,743 (GRCm39) |
V411A |
probably benign |
Het |
Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
Ints11 |
T |
C |
4: 155,969,655 (GRCm39) |
|
probably null |
Het |
Jakmip1 |
G |
T |
5: 37,258,112 (GRCm39) |
A253S |
probably damaging |
Het |
Met |
A |
G |
6: 17,540,576 (GRCm39) |
Y834C |
probably damaging |
Het |
Mgl2 |
A |
G |
11: 70,024,984 (GRCm39) |
T2A |
probably benign |
Het |
Myh2 |
G |
T |
11: 67,088,170 (GRCm39) |
V1929L |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,192,536 (GRCm39) |
S1472P |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,248,555 (GRCm39) |
|
probably benign |
Het |
Ndufaf7 |
A |
G |
17: 79,244,931 (GRCm39) |
I17V |
probably benign |
Het |
Or4a47 |
T |
C |
2: 89,666,152 (GRCm39) |
T46A |
probably damaging |
Het |
Or5ak22 |
C |
T |
2: 85,230,515 (GRCm39) |
D121N |
probably damaging |
Het |
Or5h25 |
A |
T |
16: 58,930,284 (GRCm39) |
S230T |
probably damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,492 (GRCm39) |
I248M |
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,786,617 (GRCm39) |
|
probably benign |
Het |
Or8b50 |
A |
G |
9: 38,517,850 (GRCm39) |
I30V |
probably null |
Het |
Or8k1 |
T |
G |
2: 86,047,505 (GRCm39) |
D183A |
probably damaging |
Het |
Ppef2 |
T |
C |
5: 92,383,679 (GRCm39) |
E477G |
probably benign |
Het |
Scmh1 |
T |
A |
4: 120,387,097 (GRCm39) |
|
probably benign |
Het |
Scn1a |
C |
A |
2: 66,116,281 (GRCm39) |
D1473Y |
probably damaging |
Het |
Sdr42e1 |
C |
T |
8: 118,389,676 (GRCm39) |
V322I |
probably benign |
Het |
Slco1a7 |
G |
T |
6: 141,658,940 (GRCm39) |
T552K |
possibly damaging |
Het |
Spta1 |
G |
A |
1: 174,035,960 (GRCm39) |
A1089T |
probably damaging |
Het |
Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
Tgs1 |
T |
C |
4: 3,585,183 (GRCm39) |
F108L |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,805,308 (GRCm39) |
N177S |
probably benign |
Het |
Tyk2 |
T |
C |
9: 21,031,872 (GRCm39) |
D401G |
probably damaging |
Het |
Vav1 |
T |
C |
17: 57,614,067 (GRCm39) |
F650L |
possibly damaging |
Het |
Wdr12 |
T |
C |
1: 60,119,718 (GRCm39) |
H385R |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,660,880 (GRCm39) |
M745V |
probably benign |
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 |
IGL01728:Ankib1
|
APN |
5 |
3,751,992 (GRCm39) |
splice site |
probably benign |
|
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 |
2013-12-09 |