Incidental Mutation 'R0564:Ankib1'
| ID |
46059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankib1
|
| Ensembl Gene |
ENSMUSG00000040351 |
| Gene Name |
ankyrin repeat and IBR domain containing 1 |
| Synonyms |
2310061P20Rik, 4631416I11Rik |
| MMRRC Submission |
038755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3779655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 405
(Y405H)
|
| 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: Y405H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: Y405H
| 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: Y405H
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: Y405H
| 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 |
|
| Meta Mutation Damage Score |
0.9109 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,180,681 (GRCm39) |
V127A |
probably damaging |
Het |
| Alox12 |
T |
A |
11: 70,143,662 (GRCm39) |
D202V |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,609,593 (GRCm39) |
M18K |
probably damaging |
Het |
| Atad2 |
C |
A |
15: 57,989,229 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,932,238 (GRCm39) |
|
probably benign |
Het |
| Ccdc126 |
T |
C |
6: 49,311,076 (GRCm39) |
M28T |
possibly damaging |
Het |
| Cdc16 |
A |
T |
8: 13,831,618 (GRCm39) |
D617V |
probably damaging |
Het |
| Cep135 |
G |
A |
5: 76,763,557 (GRCm39) |
E516K |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,786,796 (GRCm39) |
M1081I |
probably benign |
Het |
| Col6a3 |
A |
C |
1: 90,735,456 (GRCm39) |
V731G |
probably damaging |
Het |
| Cstdc6 |
A |
T |
16: 36,143,346 (GRCm39) |
Y34* |
probably null |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Dip2b |
C |
A |
15: 100,060,600 (GRCm39) |
Y258* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,973,807 (GRCm39) |
V1900A |
probably damaging |
Het |
| Dpysl2 |
A |
T |
14: 67,042,895 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,139,432 (GRCm39) |
L1401Q |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 140,000,506 (GRCm39) |
Y427N |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,308 (GRCm39) |
V154D |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,563,530 (GRCm39) |
F326L |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,813 (GRCm39) |
N303I |
possibly damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Iigp1 |
G |
A |
18: 60,523,523 (GRCm39) |
V214M |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,485,710 (GRCm39) |
K2E |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,601,574 (GRCm39) |
L410P |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,967,712 (GRCm39) |
F452S |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,156,831 (GRCm39) |
F335L |
possibly damaging |
Het |
| Mpp3 |
T |
G |
11: 101,896,173 (GRCm39) |
K450T |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,489,714 (GRCm39) |
V79E |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,585 (GRCm39) |
I263V |
probably benign |
Het |
| Or52p2 |
T |
C |
7: 102,237,738 (GRCm39) |
I71V |
probably benign |
Het |
| Or6c76 |
T |
G |
10: 129,612,005 (GRCm39) |
V74G |
probably damaging |
Het |
| Pdk1 |
G |
A |
2: 71,710,383 (GRCm39) |
W113* |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,966,603 (GRCm39) |
|
probably benign |
Het |
| Phxr4 |
A |
T |
9: 13,342,993 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,897 (GRCm39) |
H606Q |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,829,670 (GRCm39) |
I187K |
possibly damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,230 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,286,099 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
G |
A |
2: 32,643,064 (GRCm39) |
C749Y |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,656 (GRCm39) |
D210G |
probably benign |
Het |
| Smap2 |
G |
A |
4: 120,834,174 (GRCm39) |
P155S |
probably benign |
Het |
| Snrk |
C |
T |
9: 121,995,610 (GRCm39) |
T463M |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,233,964 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
C |
T |
5: 127,861,842 (GRCm39) |
E760K |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,332,789 (GRCm39) |
|
probably null |
Het |
| Tmem235 |
A |
T |
11: 117,751,674 (GRCm39) |
I33F |
possibly damaging |
Het |
| Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
| Top1 |
G |
A |
2: 160,556,185 (GRCm39) |
R548Q |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,805,908 (GRCm39) |
N527D |
probably damaging |
Het |
| Upf3a |
A |
G |
8: 13,845,656 (GRCm39) |
K252E |
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 |
|
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- tcctggcaGTTTGCCAACGTTT -3'
(R):5'- GCAGTGTCTGGCAGTGTAAGAGAG -3'
Sequencing Primer
(F):5'- TCAGTTATAAAAAAGGGACAACAGC -3'
(R):5'- TAAGCCCAGGTCTTGGTGAATAC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation