Incidental Mutation 'IGL01878:Ankib1'
ID |
178971 |
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 # |
IGL01878
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3784152 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 275
(M275L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043551]
[ENSMUST00000200335]
|
AlphaFold |
Q6ZPS6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043551
AA Change: M275L
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000040946 Gene: ENSMUSG00000040351 AA Change: M275L
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: ENSMUST00000199763
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200335
AA Change: M275L
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142687 Gene: ENSMUSG00000040351 AA Change: M275L
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 |
Alox8 |
G |
T |
11: 69,087,864 (GRCm39) |
Q147K |
probably benign |
Het |
Asb2 |
G |
A |
12: 103,287,922 (GRCm39) |
P546S |
possibly damaging |
Het |
B9d1 |
T |
C |
11: 61,398,449 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,557,257 (GRCm39) |
D1957G |
possibly damaging |
Het |
Cryzl2 |
T |
C |
1: 157,299,970 (GRCm39) |
V44A |
possibly damaging |
Het |
Fbxw19 |
A |
C |
9: 109,312,347 (GRCm39) |
|
probably benign |
Het |
Gabrb3 |
T |
C |
7: 57,466,163 (GRCm39) |
F326L |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm11168 |
T |
C |
9: 3,005,204 (GRCm39) |
C16R |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm7808 |
T |
A |
9: 19,839,542 (GRCm39) |
|
probably benign |
Het |
Gpam |
T |
C |
19: 55,071,806 (GRCm39) |
I312V |
probably benign |
Het |
H2-M10.5 |
A |
G |
17: 37,084,708 (GRCm39) |
Y144C |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,952,424 (GRCm39) |
S247P |
possibly damaging |
Het |
Hs3st4 |
T |
G |
7: 123,996,536 (GRCm39) |
C401G |
probably damaging |
Het |
Klhl2 |
A |
G |
8: 65,212,858 (GRCm39) |
V227A |
probably damaging |
Het |
Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
Lipm |
T |
A |
19: 34,093,911 (GRCm39) |
L276Q |
possibly damaging |
Het |
Lmf2 |
T |
A |
15: 89,236,621 (GRCm39) |
H515L |
probably damaging |
Het |
Mccc1 |
G |
A |
3: 36,030,041 (GRCm39) |
S423L |
probably damaging |
Het |
Mettl21e |
G |
A |
1: 44,250,193 (GRCm39) |
S71L |
probably null |
Het |
Muc16 |
T |
A |
9: 18,406,839 (GRCm39) |
H251L |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,059,852 (GRCm39) |
|
probably benign |
Het |
Ntf5 |
T |
C |
7: 45,065,450 (GRCm39) |
I194T |
probably damaging |
Het |
Or10ag58 |
T |
C |
2: 87,265,314 (GRCm39) |
I161T |
possibly damaging |
Het |
Or1o4 |
A |
G |
17: 37,590,891 (GRCm39) |
V140A |
possibly damaging |
Het |
Or2w6 |
T |
C |
13: 21,842,953 (GRCm39) |
D180G |
possibly damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,478 (GRCm39) |
S72P |
probably damaging |
Het |
Or9m1 |
A |
T |
2: 87,733,675 (GRCm39) |
L115* |
probably null |
Het |
Pigv |
T |
C |
4: 133,392,428 (GRCm39) |
I247M |
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,383,356 (GRCm39) |
N392D |
probably benign |
Het |
Postn |
A |
G |
3: 54,290,901 (GRCm39) |
|
probably null |
Het |
Prl2c5 |
G |
A |
13: 13,360,402 (GRCm39) |
S23N |
probably benign |
Het |
Prpf40b |
T |
C |
15: 99,204,413 (GRCm39) |
C220R |
possibly damaging |
Het |
Pzp |
A |
G |
6: 128,472,261 (GRCm39) |
S843P |
probably damaging |
Het |
Rpl23 |
C |
A |
11: 97,669,177 (GRCm39) |
R85L |
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,799,721 (GRCm39) |
S252P |
probably damaging |
Het |
Slc26a7 |
C |
T |
4: 14,519,388 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,063,571 (GRCm39) |
E2285G |
probably damaging |
Het |
Telo2 |
G |
T |
17: 25,320,332 (GRCm39) |
T784K |
probably benign |
Het |
Tnfrsf19 |
C |
T |
14: 61,234,093 (GRCm39) |
V136M |
probably damaging |
Het |
Trpm5 |
T |
A |
7: 142,628,234 (GRCm39) |
I22F |
probably damaging |
Het |
Trpv6 |
G |
T |
6: 41,603,801 (GRCm39) |
|
probably benign |
Het |
Vmn1r173 |
T |
G |
7: 23,401,877 (GRCm39) |
H37Q |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Xpo6 |
T |
A |
7: 125,773,365 (GRCm39) |
H20L |
probably benign |
Het |
Zfp462 |
T |
C |
4: 55,010,613 (GRCm39) |
Y860H |
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 |
|
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 |
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 |
2014-05-07 |