Incidental Mutation 'R9325:Ankib1'
| ID |
706448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankib1
|
| Ensembl Gene |
ENSMUSG00000040351 |
| Gene Name |
ankyrin repeat and IBR domain containing 1 |
| Synonyms |
2310061P20Rik, 4631416I11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3822523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 61
(I61T)
|
| 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: I61T
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: I61T
| 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 |
possibly damaging
Transcript: ENSMUST00000200335
AA Change: I61T
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: I61T
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,646,578 (GRCm39) |
D1076G |
possibly damaging |
Het |
| Aadacl2fm1 |
T |
A |
3: 59,843,862 (GRCm39) |
N185K |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,279 (GRCm39) |
D1060G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,775,504 (GRCm39) |
F42V |
probably damaging |
Het |
| Arhgap9 |
T |
C |
10: 127,161,722 (GRCm39) |
S238P |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,975,600 (GRCm39) |
I57F |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,810,319 (GRCm39) |
Y670C |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,720,607 (GRCm39) |
R515S |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,637,338 (GRCm39) |
V274E |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,186 (GRCm39) |
D865G |
|
Het |
| Cnih3 |
G |
A |
1: 181,181,072 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,609 (GRCm39) |
H44N |
probably benign |
Het |
| Cuta |
A |
G |
17: 27,158,289 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,415,402 (GRCm39) |
I625V |
possibly damaging |
Het |
| Ddx4 |
A |
T |
13: 112,736,441 (GRCm39) |
F643Y |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,038,518 (GRCm39) |
V1020E |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 30,998,160 (GRCm39) |
T2559K |
possibly damaging |
Het |
| Eng |
C |
T |
2: 32,561,445 (GRCm39) |
A152V |
probably damaging |
Het |
| F7 |
G |
T |
8: 13,083,430 (GRCm39) |
R190L |
probably benign |
Het |
| Fcgr4 |
T |
C |
1: 170,847,711 (GRCm39) |
V103A |
probably damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,934 (GRCm39) |
V1005I |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,371 (GRCm39) |
H137L |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,790,834 (GRCm39) |
D64G |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,743,992 (GRCm39) |
C202* |
probably null |
Het |
| Hspg2 |
C |
T |
4: 137,265,552 (GRCm39) |
R1783W |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,455 (GRCm39) |
S384T |
probably damaging |
Het |
| Igsf21 |
T |
A |
4: 139,794,466 (GRCm39) |
I136F |
probably damaging |
Het |
| Isl1 |
A |
G |
13: 116,436,105 (GRCm39) |
S321P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,639,378 (GRCm39) |
K813R |
probably benign |
Het |
| Klk7 |
A |
G |
7: 43,461,437 (GRCm39) |
E18G |
possibly damaging |
Het |
| Lox |
T |
C |
18: 52,661,400 (GRCm39) |
M225V |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 110,990,429 (GRCm39) |
M50K |
possibly damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,241 (GRCm39) |
Q102L |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,562 (GRCm39) |
R692G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,676,248 (GRCm39) |
V326A |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,298,559 (GRCm39) |
M70I |
|
Het |
| Nefl |
T |
C |
14: 68,322,460 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,271 (GRCm39) |
L586Q |
probably damaging |
Het |
| Or10ag58 |
G |
A |
2: 87,265,290 (GRCm39) |
G153D |
possibly damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,327 (GRCm39) |
D264G |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,990,558 (GRCm39) |
D467E |
probably damaging |
Het |
| Polr2g |
T |
A |
19: 8,774,669 (GRCm39) |
K71N |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,093 (GRCm39) |
H137R |
probably benign |
Het |
| Prkci |
A |
G |
3: 31,085,333 (GRCm39) |
K184R |
probably damaging |
Het |
| Prr15 |
G |
A |
6: 54,306,137 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,727,819 (GRCm39) |
N896K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,479,640 (GRCm39) |
E4414G |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,756 (GRCm39) |
D994E |
probably damaging |
Het |
| Slc6a4 |
C |
A |
11: 76,909,999 (GRCm39) |
P418Q |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,324,076 (GRCm39) |
M1138K |
unknown |
Het |
| Snph |
C |
T |
2: 151,436,208 (GRCm39) |
R240Q |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,647,095 (GRCm39) |
T122S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,768 (GRCm39) |
D1244G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,583,253 (GRCm39) |
I543V |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,291,762 (GRCm39) |
S77P |
probably damaging |
Het |
| Usp36 |
T |
G |
11: 118,160,031 (GRCm39) |
D471A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,558 (GRCm39) |
Y191C |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,433 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,380 (GRCm39) |
I316N |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,227 (GRCm39) |
F62L |
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 |
|
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 |
|
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'- GTTTTCTACAGTACAGTGTGGACAG -3'
(R):5'- AGAACGTGCCACTGCCTATC -3'
Sequencing Primer
(F):5'- GTACAGTGTGGACAGAAATGTATTC -3'
(R):5'- GTGCCACTGCCTATCAGAAAATAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation