Incidental Mutation 'IGL02873:Ankib1'
| ID |
362613 |
| 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 # |
IGL02873
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3822619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 29
(Q29L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043551]
[ENSMUST00000200335]
|
| AlphaFold |
Q6ZPS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043551
AA Change: Q29L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: Q29L
| 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: Q29L
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: Q29L
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
T |
7: 50,249,431 (GRCm39) |
H155L |
probably damaging |
Het |
| 5830462I19Rik |
G |
A |
9: 110,203,446 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
T |
10: 67,937,780 (GRCm39) |
M449K |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,483,894 (GRCm39) |
V1017A |
probably benign |
Het |
| Cfap52 |
G |
T |
11: 67,822,608 (GRCm39) |
T421K |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,459,970 (GRCm39) |
I780N |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,299,181 (GRCm39) |
D3164G |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,142 (GRCm39) |
Q82L |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,830,700 (GRCm39) |
D265V |
probably benign |
Het |
| Gm14393 |
T |
C |
2: 174,903,595 (GRCm39) |
D104G |
possibly damaging |
Het |
| Gpat2 |
T |
C |
2: 127,273,675 (GRCm39) |
V271A |
probably benign |
Het |
| Ifna4 |
T |
C |
4: 88,760,423 (GRCm39) |
F109S |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,164 (GRCm39) |
S529G |
probably benign |
Het |
| Jag2 |
A |
G |
12: 112,874,122 (GRCm39) |
L1011P |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,356,507 (GRCm39) |
L728P |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,817 (GRCm39) |
V509A |
probably benign |
Het |
| Map2k4 |
T |
A |
11: 65,610,400 (GRCm39) |
N92I |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,374,308 (GRCm39) |
D1288V |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,217 (GRCm39) |
V151A |
probably benign |
Het |
| Or5g25 |
C |
A |
2: 85,478,096 (GRCm39) |
A190S |
possibly damaging |
Het |
| Paip1 |
T |
A |
13: 119,582,348 (GRCm39) |
F275L |
possibly damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,936,937 (GRCm39) |
D1624G |
probably damaging |
Het |
| Ppwd1 |
C |
A |
13: 104,346,261 (GRCm39) |
D465Y |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,538 (GRCm39) |
L528P |
probably damaging |
Het |
| Rftn1 |
A |
C |
17: 50,476,180 (GRCm39) |
|
probably benign |
Het |
| Scn1b |
T |
A |
7: 30,817,182 (GRCm39) |
Y180F |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,111 (GRCm39) |
D207G |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,717,373 (GRCm39) |
T28A |
probably damaging |
Het |
| Slc47a1 |
G |
A |
11: 61,253,643 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
A |
T |
3: 146,193,122 (GRCm39) |
V123D |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,544,288 (GRCm39) |
V4469A |
probably damaging |
Het |
| Trmu |
T |
A |
15: 85,781,033 (GRCm39) |
|
probably null |
Het |
| Trrap |
T |
A |
5: 144,777,889 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,726,475 (GRCm39) |
|
probably benign |
Het |
| Tubgcp6 |
T |
C |
15: 88,988,027 (GRCm39) |
D974G |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,364,171 (GRCm39) |
R621C |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,513,058 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,848 (GRCm39) |
K305E |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,199,765 (GRCm39) |
T118M |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation