Incidental Mutation 'R6377:Ankib1'
| ID |
515038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankib1
|
| Ensembl Gene |
ENSMUSG00000040351 |
| Gene Name |
ankyrin repeat and IBR domain containing 1 |
| Synonyms |
2310061P20Rik, 4631416I11Rik |
| MMRRC Submission |
044527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6377 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3743855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 812
(S812P)
|
| 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: S812P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: S812P
| 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: ENSMUST00000174957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199043
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200335
|
| SMART Domains |
Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
94% (59/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
A |
G |
8: 120,453,093 (GRCm39) |
E159G |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,821,889 (GRCm39) |
I861V |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,741,717 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 95,975,608 (GRCm39) |
G629C |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,743,657 (GRCm39) |
F540Y |
probably damaging |
Het |
| Cpb1 |
A |
C |
3: 20,329,748 (GRCm39) |
|
probably null |
Het |
| Cyp4a14 |
A |
G |
4: 115,353,280 (GRCm39) |
Y11H |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
| Dcstamp |
A |
T |
15: 39,618,317 (GRCm39) |
Y242F |
probably benign |
Het |
| Drd3 |
G |
T |
16: 43,641,670 (GRCm39) |
G329* |
probably null |
Het |
| Duxf1 |
T |
C |
10: 58,059,494 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 83,985,945 (GRCm39) |
S17T |
probably benign |
Het |
| Eno1 |
A |
T |
4: 150,333,009 (GRCm39) |
K366N |
possibly damaging |
Het |
| Ffar2 |
C |
T |
7: 30,518,971 (GRCm39) |
V190I |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,429 (GRCm39) |
T508A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,988,567 (GRCm39) |
V1165A |
unknown |
Het |
| Foxj3 |
A |
T |
4: 119,430,945 (GRCm39) |
|
probably null |
Het |
| Gabarap |
T |
C |
11: 69,882,630 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
T |
A |
8: 36,270,736 (GRCm39) |
L1221* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,850,998 (GRCm39) |
Y931F |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,636 (GRCm39) |
S565T |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,717,995 (GRCm39) |
Y209* |
probably null |
Het |
| Jph2 |
C |
T |
2: 163,181,632 (GRCm39) |
G511R |
probably benign |
Het |
| Khdrbs1 |
C |
A |
4: 129,635,890 (GRCm39) |
D22Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,212,562 (GRCm39) |
L754Q |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,927,320 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 69,084,918 (GRCm39) |
V610F |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,283,825 (GRCm39) |
T698A |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,928,961 (GRCm39) |
V267A |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,468,128 (GRCm39) |
D925E |
probably damaging |
Het |
| Lsg1 |
A |
G |
16: 30,393,386 (GRCm39) |
L187P |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,298,050 (GRCm39) |
V2328E |
possibly damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,271 (GRCm39) |
I305T |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,421,016 (GRCm39) |
M1V |
probably null |
Het |
| Myadml2 |
C |
A |
11: 120,538,538 (GRCm39) |
C99F |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,150,703 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ndufaf7 |
A |
T |
17: 79,250,739 (GRCm39) |
Q222L |
probably null |
Het |
| Nlrp4b |
A |
T |
7: 10,449,339 (GRCm39) |
Y147F |
probably benign |
Het |
| Or4c11c |
C |
T |
2: 88,661,613 (GRCm39) |
R51* |
probably null |
Het |
| Pet100 |
T |
C |
8: 3,672,370 (GRCm39) |
V15A |
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,778,869 (GRCm39) |
V75A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,725,935 (GRCm39) |
M1043K |
probably damaging |
Het |
| Rnf31 |
A |
G |
14: 55,832,984 (GRCm39) |
T413A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,287,635 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,462,530 (GRCm39) |
C4839S |
probably damaging |
Het |
| Scai |
A |
C |
2: 38,992,340 (GRCm39) |
D379E |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,288,198 (GRCm39) |
G197* |
probably null |
Het |
| Sdr39u1 |
A |
C |
14: 56,135,166 (GRCm39) |
I259S |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,187,906 (GRCm39) |
|
probably null |
Het |
| Sp1 |
A |
T |
15: 102,339,318 (GRCm39) |
T733S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,255,051 (GRCm39) |
S1711P |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,124,975 (GRCm39) |
W240L |
probably damaging |
Het |
| Trarg1 |
T |
C |
11: 76,571,355 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,454 (GRCm39) |
K102R |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,619,827 (GRCm39) |
Y278H |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,878,731 (GRCm39) |
D1065V |
unknown |
Het |
| Vmn2r109 |
A |
C |
17: 20,784,796 (GRCm39) |
|
probably null |
Het |
| Zbed5 |
T |
C |
5: 129,932,210 (GRCm39) |
S720P |
possibly damaging |
Het |
| Zc3h3 |
A |
G |
15: 75,711,304 (GRCm39) |
S386P |
probably damaging |
Het |
| Zscan4-ps1 |
C |
T |
7: 10,802,418 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AAGAACCCCTCTGTACCCTATTG -3'
(R):5'- ACACTGGATATCTGTTACTGCTCC -3'
Sequencing Primer
(F):5'- TCTGTACCCTATTGACCACTGAAAC -3'
(R):5'- GGATATCTGTTACTGCTCCCCATCAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation