Incidental Mutation 'R2069:Ahi1'
| ID |
226959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ahi1
|
| Ensembl Gene |
ENSMUSG00000019986 |
| Gene Name |
Abelson helper integration site 1 |
| Synonyms |
Jouberin, Ahi-1, D10Bwg0629e, 1700015F03Rik |
| MMRRC Submission |
040074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R2069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20835895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 76
(T76I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000213104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105525
AA Change: T76I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: T76I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
|
WD40
|
448 |
490 |
4.3e-1 |
SMART |
|
WD40
|
493 |
532 |
9.3e-9 |
SMART |
|
WD40
|
537 |
576 |
2.48e-4 |
SMART |
|
WD40
|
583 |
622 |
6.09e-4 |
SMART |
|
WD40
|
641 |
678 |
1.9e2 |
SMART |
|
WD40
|
684 |
721 |
3.98e0 |
SMART |
|
WD40
|
724 |
769 |
9.51e1 |
SMART |
|
SH3
|
905 |
961 |
2.15e-21 |
SMART |
|
low complexity region
|
975 |
989 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213104
AA Change: T76I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (104/104) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mouse embryonic fibroblasts homozygous for one knock-out allele exhibit reduced and abnormal cilia. Mice homozygous for another knock-out allele exhibit premature death and abnormal kidney morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 104 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,012,341 (GRCm39) |
V86A |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,255,243 (GRCm39) |
I601N |
probably damaging |
Het |
| Abl2 |
T |
A |
1: 156,448,397 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Arhgap42 |
C |
T |
9: 9,035,601 (GRCm39) |
G247D |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,260,471 (GRCm39) |
L407F |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,423 (GRCm39) |
F606L |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,713,420 (GRCm39) |
|
probably benign |
Het |
| B3glct |
C |
T |
5: 149,632,845 (GRCm39) |
A65V |
probably damaging |
Het |
| Bcorl1 |
T |
C |
X: 47,490,794 (GRCm39) |
|
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,187,496 (GRCm39) |
T1624A |
probably benign |
Het |
| Bmp15 |
A |
G |
X: 6,228,075 (GRCm39) |
M263T |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,747,532 (GRCm39) |
K110E |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,848,041 (GRCm39) |
D1052G |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,332,450 (GRCm39) |
G430R |
possibly damaging |
Het |
| Ccdc113 |
G |
A |
8: 96,283,924 (GRCm39) |
E333K |
probably benign |
Het |
| Ccnl2 |
A |
T |
4: 155,896,938 (GRCm39) |
|
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,429 (GRCm39) |
F37S |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,889 (GRCm39) |
D721V |
probably damaging |
Het |
| Ceacam10 |
A |
T |
7: 24,477,797 (GRCm39) |
N104I |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,372,684 (GRCm39) |
|
probably benign |
Het |
| Cfi |
A |
G |
3: 129,652,453 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
C |
17: 15,962,556 (GRCm39) |
F771S |
probably damaging |
Het |
| Chil4 |
G |
A |
3: 106,126,771 (GRCm39) |
L4F |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,286,450 (GRCm39) |
G402R |
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,956,802 (GRCm39) |
E485G |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,783,412 (GRCm39) |
S733G |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,312,534 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
T |
C |
10: 77,888,566 (GRCm39) |
V156A |
probably damaging |
Het |
| Duox1 |
A |
T |
2: 122,163,543 (GRCm39) |
T792S |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,117,589 (GRCm39) |
D915G |
probably benign |
Het |
| Efcab5 |
A |
T |
11: 77,063,147 (GRCm39) |
M115K |
probably benign |
Het |
| Eif2s1 |
G |
A |
12: 78,923,959 (GRCm39) |
D139N |
probably benign |
Het |
| Erg |
A |
G |
16: 95,161,937 (GRCm39) |
F390L |
probably damaging |
Het |
| Fam193b |
A |
T |
13: 55,690,811 (GRCm39) |
S650R |
probably damaging |
Het |
| Fbp2 |
T |
A |
13: 63,001,875 (GRCm39) |
K113N |
possibly damaging |
Het |
| Fnbp4 |
T |
G |
2: 90,588,716 (GRCm39) |
S496A |
probably damaging |
Het |
| Gab3 |
C |
A |
X: 74,043,701 (GRCm39) |
R475L |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,431,837 (GRCm39) |
|
probably benign |
Het |
| Gucy1a2 |
C |
T |
9: 3,582,697 (GRCm39) |
L160F |
probably damaging |
Het |
| Hivep1 |
C |
T |
13: 42,337,262 (GRCm39) |
A2447V |
possibly damaging |
Het |
| Insc |
G |
T |
7: 114,403,828 (GRCm39) |
|
probably null |
Het |
| Jph2 |
A |
G |
2: 163,181,605 (GRCm39) |
S520P |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,037,005 (GRCm39) |
|
probably benign |
Het |
| Krtap29-1 |
A |
G |
11: 99,869,438 (GRCm39) |
S148P |
probably damaging |
Het |
| Ltbp2 |
A |
C |
12: 84,840,507 (GRCm39) |
C1000G |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,853 (GRCm39) |
F294S |
probably damaging |
Het |
| Map4k2 |
C |
A |
19: 6,392,768 (GRCm39) |
|
probably benign |
Het |
| Mboat2 |
T |
C |
12: 25,001,442 (GRCm39) |
V281A |
probably benign |
Het |
| Mdga2 |
G |
A |
12: 66,615,691 (GRCm39) |
R570* |
probably null |
Het |
| Mlxipl |
A |
G |
5: 135,135,859 (GRCm39) |
D28G |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,355,734 (GRCm39) |
I679M |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,192 (GRCm39) |
|
probably benign |
Het |
| Nfib |
A |
C |
4: 82,416,852 (GRCm39) |
L61R |
probably damaging |
Het |
| Noc2l |
C |
A |
4: 156,325,907 (GRCm39) |
Y227* |
probably null |
Het |
| Nrde2 |
A |
G |
12: 100,108,491 (GRCm39) |
S367P |
probably damaging |
Het |
| Nup93 |
C |
A |
8: 94,970,367 (GRCm39) |
P89T |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,826 (GRCm39) |
K264* |
probably null |
Het |
| Or11h4 |
T |
A |
14: 50,974,033 (GRCm39) |
E195D |
possibly damaging |
Het |
| Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
| Or4k77 |
A |
G |
2: 111,199,440 (GRCm39) |
I154M |
probably benign |
Het |
| Or6b9 |
A |
T |
7: 106,555,494 (GRCm39) |
Y216* |
probably null |
Het |
| Or9r7 |
A |
G |
10: 129,962,074 (GRCm39) |
I284T |
possibly damaging |
Het |
| Oxct1 |
G |
T |
15: 4,122,007 (GRCm39) |
A319S |
probably null |
Het |
| P2ry10 |
A |
G |
X: 106,146,859 (GRCm39) |
S265G |
probably benign |
Het |
| Peak1 |
A |
T |
9: 56,166,043 (GRCm39) |
N628K |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,432 (GRCm39) |
Q168L |
probably benign |
Het |
| Plaat5 |
T |
C |
19: 7,590,003 (GRCm39) |
S10P |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,073,126 (GRCm39) |
M604T |
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,258,735 (GRCm39) |
N680I |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,679,714 (GRCm39) |
W233R |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,683,726 (GRCm39) |
N186S |
probably benign |
Het |
| Rsad1 |
A |
C |
11: 94,439,951 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
A |
G |
17: 45,046,229 (GRCm39) |
I112T |
probably benign |
Het |
| S1pr2 |
A |
T |
9: 20,878,790 (GRCm39) |
L346Q |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 113,095,329 (GRCm39) |
I110T |
probably damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,638,276 (GRCm39) |
F234Y |
probably damaging |
Het |
| Slitrk2 |
T |
A |
X: 65,698,235 (GRCm39) |
V242D |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,608,863 (GRCm39) |
|
probably null |
Het |
| Spryd3 |
A |
C |
15: 102,026,616 (GRCm39) |
L352V |
probably benign |
Het |
| Ssc4d |
A |
C |
5: 135,999,171 (GRCm39) |
W11G |
possibly damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tlk2 |
A |
T |
11: 105,131,266 (GRCm39) |
Q204L |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,829 (GRCm39) |
H147L |
possibly damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,751,842 (GRCm39) |
D1154E |
unknown |
Het |
| Trap1 |
A |
G |
16: 3,886,200 (GRCm39) |
S86P |
probably benign |
Het |
| Trim32 |
T |
A |
4: 65,533,013 (GRCm39) |
C523* |
probably null |
Het |
| Ttc38 |
G |
T |
15: 85,722,989 (GRCm39) |
D146Y |
probably damaging |
Het |
| Ttc9 |
T |
A |
12: 81,678,570 (GRCm39) |
L131Q |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,557,192 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
| Ubash3b |
G |
A |
9: 40,954,869 (GRCm39) |
P92S |
possibly damaging |
Het |
| Ube4a |
T |
C |
9: 44,859,397 (GRCm39) |
N367S |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,206,851 (GRCm39) |
H4899Q |
possibly damaging |
Het |
| Ufl1 |
C |
T |
4: 25,269,036 (GRCm39) |
G265D |
possibly damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,201,442 (GRCm39) |
I172F |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,519 (GRCm39) |
H438Q |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,425 (GRCm39) |
D615G |
probably benign |
Het |
| Wdr24 |
T |
A |
17: 26,045,256 (GRCm39) |
D330E |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,985,719 (GRCm39) |
N444K |
probably benign |
Het |
| Zc3h7b |
A |
T |
15: 81,676,529 (GRCm39) |
Q757L |
probably damaging |
Het |
| Zpld2 |
T |
G |
4: 133,929,252 (GRCm39) |
N351T |
possibly damaging |
Het |
|
| Other mutations in Ahi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Ahi1
|
APN |
10 |
20,848,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00914:Ahi1
|
APN |
10 |
20,860,198 (GRCm39) |
splice site |
probably null |
|
|
IGL01075:Ahi1
|
APN |
10 |
20,862,924 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01094:Ahi1
|
APN |
10 |
20,847,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01128:Ahi1
|
APN |
10 |
20,950,332 (GRCm39) |
missense |
probably benign |
|
|
IGL01527:Ahi1
|
APN |
10 |
20,835,984 (GRCm39) |
splice site |
probably benign |
|
|
IGL01821:Ahi1
|
APN |
10 |
20,917,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02159:Ahi1
|
APN |
10 |
20,934,076 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02176:Ahi1
|
APN |
10 |
20,846,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02200:Ahi1
|
APN |
10 |
20,857,213 (GRCm39) |
splice site |
probably benign |
|
|
IGL02232:Ahi1
|
APN |
10 |
20,857,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02305:Ahi1
|
APN |
10 |
20,846,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02323:Ahi1
|
APN |
10 |
20,847,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Ahi1
|
APN |
10 |
20,931,012 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02958:Ahi1
|
APN |
10 |
20,839,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02971:Ahi1
|
APN |
10 |
20,876,450 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03109:Ahi1
|
APN |
10 |
20,846,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03192:Ahi1
|
APN |
10 |
20,841,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03377:Ahi1
|
APN |
10 |
20,893,903 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
arisen
|
UTSW |
10 |
20,883,667 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
urspringt
|
UTSW |
10 |
20,860,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4717OSA:Ahi1
|
UTSW |
10 |
20,848,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P4748:Ahi1
|
UTSW |
10 |
20,848,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Ahi1
|
UTSW |
10 |
20,847,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Ahi1
|
UTSW |
10 |
20,876,618 (GRCm39) |
splice site |
probably benign |
|
|
R0627:Ahi1
|
UTSW |
10 |
20,841,421 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0652:Ahi1
|
UTSW |
10 |
20,855,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Ahi1
|
UTSW |
10 |
20,846,742 (GRCm39) |
splice site |
probably benign |
|
|
R1209:Ahi1
|
UTSW |
10 |
20,839,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1364:Ahi1
|
UTSW |
10 |
20,848,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1510:Ahi1
|
UTSW |
10 |
20,835,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1634:Ahi1
|
UTSW |
10 |
20,841,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Ahi1
|
UTSW |
10 |
20,839,014 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1818:Ahi1
|
UTSW |
10 |
20,864,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Ahi1
|
UTSW |
10 |
20,846,875 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2566:Ahi1
|
UTSW |
10 |
20,846,810 (GRCm39) |
nonsense |
probably null |
|
|
R2850:Ahi1
|
UTSW |
10 |
20,876,492 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2862:Ahi1
|
UTSW |
10 |
20,857,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3969:Ahi1
|
UTSW |
10 |
20,835,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4430:Ahi1
|
UTSW |
10 |
20,847,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Ahi1
|
UTSW |
10 |
20,841,444 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4755:Ahi1
|
UTSW |
10 |
20,930,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4916:Ahi1
|
UTSW |
10 |
20,860,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5216:Ahi1
|
UTSW |
10 |
20,835,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5223:Ahi1
|
UTSW |
10 |
20,846,818 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5224:Ahi1
|
UTSW |
10 |
20,862,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Ahi1
|
UTSW |
10 |
20,862,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Ahi1
|
UTSW |
10 |
20,930,946 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5704:Ahi1
|
UTSW |
10 |
20,950,326 (GRCm39) |
missense |
probably benign |
|
|
R5769:Ahi1
|
UTSW |
10 |
20,835,981 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5899:Ahi1
|
UTSW |
10 |
20,876,465 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5936:Ahi1
|
UTSW |
10 |
20,841,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Ahi1
|
UTSW |
10 |
20,860,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Ahi1
|
UTSW |
10 |
20,835,825 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6122:Ahi1
|
UTSW |
10 |
20,934,064 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6135:Ahi1
|
UTSW |
10 |
20,845,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6240:Ahi1
|
UTSW |
10 |
20,852,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6387:Ahi1
|
UTSW |
10 |
20,844,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Ahi1
|
UTSW |
10 |
20,855,491 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6406:Ahi1
|
UTSW |
10 |
20,852,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Ahi1
|
UTSW |
10 |
20,835,981 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R6558:Ahi1
|
UTSW |
10 |
20,839,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Ahi1
|
UTSW |
10 |
20,841,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Ahi1
|
UTSW |
10 |
20,893,812 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6927:Ahi1
|
UTSW |
10 |
20,930,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Ahi1
|
UTSW |
10 |
20,839,590 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6967:Ahi1
|
UTSW |
10 |
20,864,524 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7168:Ahi1
|
UTSW |
10 |
20,893,831 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7169:Ahi1
|
UTSW |
10 |
20,930,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7327:Ahi1
|
UTSW |
10 |
20,862,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7351:Ahi1
|
UTSW |
10 |
20,841,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7489:Ahi1
|
UTSW |
10 |
20,839,649 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7680:Ahi1
|
UTSW |
10 |
20,883,667 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7878:Ahi1
|
UTSW |
10 |
20,857,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7999:Ahi1
|
UTSW |
10 |
20,841,580 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8219:Ahi1
|
UTSW |
10 |
20,950,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8248:Ahi1
|
UTSW |
10 |
20,847,991 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8560:Ahi1
|
UTSW |
10 |
20,835,814 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8926:Ahi1
|
UTSW |
10 |
20,930,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Ahi1
|
UTSW |
10 |
20,839,761 (GRCm39) |
missense |
probably benign |
|
|
R8987:Ahi1
|
UTSW |
10 |
20,839,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Ahi1
|
UTSW |
10 |
20,883,658 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9145:Ahi1
|
UTSW |
10 |
20,876,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9365:Ahi1
|
UTSW |
10 |
20,848,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9567:Ahi1
|
UTSW |
10 |
20,857,300 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0024:Ahi1
|
UTSW |
10 |
20,876,491 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Ahi1
|
UTSW |
10 |
20,916,906 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCGACAGCAGATGATTC -3'
(R):5'- TGTCGATGTGAAGACACTAGAG -3'
Sequencing Primer
(F):5'- CCCGACAGCAGATGATTCAGATG -3'
(R):5'- TGTCGATGTGAAGACACTAGAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation