Incidental Mutation 'R5606:Ankib1'
ID |
439287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankib1
|
Ensembl Gene |
ENSMUSG00000040351 |
Gene Name |
ankyrin repeat and IBR domain containing 1 |
Synonyms |
2310061P20Rik, 4631416I11Rik |
MMRRC Submission |
043157-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5606 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3751907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 711
(I711N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142687
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043551]
[ENSMUST00000200335]
|
AlphaFold |
Q6ZPS6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043551
AA Change: I711N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040946 Gene: ENSMUSG00000040351 AA Change: I711N
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 damaging
Transcript: ENSMUST00000200335
AA Change: I711N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142687 Gene: ENSMUSG00000040351 AA Change: I711N
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a7 |
A |
G |
19: 20,699,731 (GRCm39) |
S75P |
probably damaging |
Het |
Ankmy2 |
A |
G |
12: 36,215,920 (GRCm39) |
N40S |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,418,315 (GRCm39) |
K80E |
probably benign |
Het |
Blm |
C |
A |
7: 80,110,580 (GRCm39) |
|
probably null |
Het |
Cand1 |
C |
A |
10: 119,047,359 (GRCm39) |
Q710H |
possibly damaging |
Het |
Ckap2l |
A |
T |
2: 129,127,959 (GRCm39) |
I73N |
probably damaging |
Het |
Ddx27 |
T |
A |
2: 166,861,886 (GRCm39) |
D129E |
probably benign |
Het |
Dnm3 |
T |
C |
1: 162,113,587 (GRCm39) |
E491G |
probably damaging |
Het |
Fgd6 |
C |
A |
10: 93,974,190 (GRCm39) |
Y1310* |
probably null |
Het |
Hnrnph3 |
C |
T |
10: 62,855,222 (GRCm39) |
R21H |
possibly damaging |
Het |
Hs3st4 |
C |
A |
7: 123,996,365 (GRCm39) |
Q344K |
probably damaging |
Het |
Hyal3 |
T |
C |
9: 107,462,265 (GRCm39) |
S100P |
probably benign |
Het |
Map3k19 |
G |
A |
1: 127,750,694 (GRCm39) |
R886C |
probably benign |
Het |
Mmrn2 |
G |
A |
14: 34,119,581 (GRCm39) |
D187N |
probably damaging |
Het |
Myo5c |
G |
A |
9: 75,182,790 (GRCm39) |
A810T |
probably damaging |
Het |
Noxa1 |
T |
A |
2: 24,976,292 (GRCm39) |
E332V |
possibly damaging |
Het |
Or10al7 |
T |
C |
17: 38,365,693 (GRCm39) |
T264A |
probably damaging |
Het |
Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
Or7c70 |
A |
G |
10: 78,683,395 (GRCm39) |
M118T |
probably benign |
Het |
Parg |
T |
A |
14: 31,984,693 (GRCm39) |
V241E |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,610,101 (GRCm39) |
V391D |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,648,108 (GRCm39) |
V421E |
probably benign |
Het |
Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,047,468 (GRCm39) |
H1704L |
probably damaging |
Het |
Tbpl2 |
G |
A |
2: 23,977,245 (GRCm39) |
P258S |
possibly damaging |
Het |
Thoc2l |
T |
C |
5: 104,669,744 (GRCm39) |
I1422T |
probably benign |
Het |
Tlr11 |
T |
C |
14: 50,599,717 (GRCm39) |
C568R |
probably benign |
Het |
Tmem260 |
T |
A |
14: 48,722,437 (GRCm39) |
M324K |
probably damaging |
Het |
Tmprss11g |
T |
A |
5: 86,635,269 (GRCm39) |
T402S |
probably damaging |
Het |
Trim21 |
C |
G |
7: 102,208,813 (GRCm39) |
R302P |
probably damaging |
Het |
Uox |
T |
A |
3: 146,316,057 (GRCm39) |
Y21* |
probably null |
Het |
Vmn1r74 |
A |
G |
7: 11,580,822 (GRCm39) |
M41V |
probably benign |
Het |
Vmn2r59 |
A |
C |
7: 41,695,318 (GRCm39) |
S365A |
probably benign |
Het |
Zfp345 |
A |
T |
2: 150,316,788 (GRCm39) |
Y6* |
probably null |
Het |
Zpld2 |
A |
C |
4: 133,927,523 (GRCm39) |
V410G |
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 |
|
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 |
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'- CTGGAGAGTTACACAGTGACAGAC -3'
(R):5'- TGCATTCATGATGACTTAACCTACC -3'
Sequencing Primer
(F):5'- TCAGCTATCCATATTGTAGGTGTAAG -3'
(R):5'- ATGATGACTTAACCTACCATCTTTTC -3'
|
Posted On |
2016-10-26 |