Incidental Mutation 'R1789:Ahi1'
| ID |
201635 |
| 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 |
039820-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R1789 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20839014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 121
(G121D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000213104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105525
AA Change: G121D
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: G121D
| 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 benign
Transcript: ENSMUST00000213104
AA Change: G121D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.1%
|
| Validation Efficiency |
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,184,701 (GRCm39) |
P986L |
probably damaging |
Het |
| Acad10 |
A |
T |
5: 121,769,456 (GRCm39) |
Y667N |
possibly damaging |
Het |
| Ampd1 |
T |
A |
3: 103,006,442 (GRCm39) |
I690N |
possibly damaging |
Het |
| Amy1 |
C |
A |
3: 113,351,814 (GRCm39) |
W425L |
possibly damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,223,831 (GRCm39) |
V823E |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,579,077 (GRCm39) |
S624P |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 68,021,897 (GRCm39) |
H231R |
probably damaging |
Het |
| Aspscr1 |
C |
A |
11: 120,579,386 (GRCm39) |
T78N |
probably damaging |
Het |
| Auts2 |
T |
A |
5: 131,501,288 (GRCm39) |
T42S |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,473,045 (GRCm39) |
D158G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,781,913 (GRCm39) |
|
probably null |
Het |
| Chrna5 |
T |
C |
9: 54,911,935 (GRCm39) |
V245A |
possibly damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,320,916 (GRCm39) |
G163R |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,417,465 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
T |
C |
1: 45,433,936 (GRCm39) |
Q759R |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,829,796 (GRCm39) |
D340G |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,576,143 (GRCm39) |
D1104E |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,002,515 (GRCm39) |
S308T |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,270,572 (GRCm39) |
H958R |
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,785,368 (GRCm39) |
Y478H |
probably damaging |
Het |
| Fam237b |
A |
T |
5: 5,625,652 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,281 (GRCm39) |
Y414C |
probably benign |
Het |
| Fbxo10 |
C |
A |
4: 45,046,389 (GRCm39) |
A574S |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,807,906 (GRCm39) |
L1408F |
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,501,747 (GRCm39) |
V425A |
possibly damaging |
Het |
| Gm7168 |
A |
T |
17: 14,169,846 (GRCm39) |
R404S |
probably benign |
Het |
| Gpd1 |
T |
G |
15: 99,621,083 (GRCm39) |
F299C |
probably damaging |
Het |
| Gpr137 |
C |
T |
19: 6,919,425 (GRCm39) |
|
probably benign |
Het |
| Grin3b |
T |
C |
10: 79,809,242 (GRCm39) |
S331P |
probably benign |
Het |
| Grk3 |
T |
A |
5: 113,089,584 (GRCm39) |
I281F |
probably damaging |
Het |
| Hoxb7 |
T |
A |
11: 96,177,607 (GRCm39) |
S18R |
probably damaging |
Het |
| Igf1r |
C |
T |
7: 67,864,681 (GRCm39) |
R1160* |
probably null |
Het |
| Itfg1 |
A |
G |
8: 86,452,141 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
| Kcnk1 |
A |
G |
8: 126,752,123 (GRCm39) |
E243G |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,491,822 (GRCm39) |
L439P |
probably damaging |
Het |
| Kif2c |
T |
A |
4: 117,024,558 (GRCm39) |
Q279L |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,749,955 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
G |
2: 162,816,422 (GRCm39) |
T821A |
probably benign |
Het |
| Lrrc24 |
A |
T |
15: 76,606,778 (GRCm39) |
M206K |
probably benign |
Het |
| Mamdc4 |
T |
G |
2: 25,457,634 (GRCm39) |
K460Q |
possibly damaging |
Het |
| Maml2 |
C |
G |
9: 13,608,641 (GRCm39) |
L30V |
probably damaging |
Het |
| Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
G |
15: 25,726,611 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,246,066 (GRCm39) |
L419Q |
probably damaging |
Het |
| Myo6 |
C |
A |
9: 80,207,854 (GRCm39) |
H1115Q |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,756,302 (GRCm39) |
V10A |
probably damaging |
Het |
| Myoz2 |
C |
T |
3: 122,819,776 (GRCm39) |
R61H |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,645,796 (GRCm39) |
R38C |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,350,900 (GRCm39) |
T736S |
probably benign |
Het |
| Ncor2 |
G |
A |
5: 125,096,954 (GRCm39) |
A2325V |
probably damaging |
Het |
| Nid2 |
T |
A |
14: 19,802,499 (GRCm39) |
V140E |
possibly damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,079,915 (GRCm39) |
D704Y |
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,377,699 (GRCm39) |
S126C |
probably damaging |
Het |
| Or2g7 |
T |
C |
17: 38,378,839 (GRCm39) |
I259T |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,122 (GRCm39) |
F116S |
probably benign |
Het |
| Or5w10 |
A |
T |
2: 87,375,327 (GRCm39) |
L187H |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,451 (GRCm39) |
L160* |
probably null |
Het |
| Or6c6c |
T |
C |
10: 129,541,476 (GRCm39) |
M243T |
possibly damaging |
Het |
| Or6d15 |
A |
C |
6: 116,559,658 (GRCm39) |
F83C |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,027,667 (GRCm39) |
I269T |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,845,287 (GRCm39) |
D1299E |
probably damaging |
Het |
| Pitx2 |
T |
A |
3: 129,012,403 (GRCm39) |
Y271N |
probably damaging |
Het |
| Polk |
T |
C |
13: 96,633,140 (GRCm39) |
E301G |
probably damaging |
Het |
| Prkdc |
C |
A |
16: 15,557,388 (GRCm39) |
N2230K |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,322,622 (GRCm39) |
E170G |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,179 (GRCm39) |
I235T |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,413,217 (GRCm39) |
I724V |
probably benign |
Het |
| Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
| Rbm26 |
T |
A |
14: 105,354,509 (GRCm39) |
K949N |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,331,047 (GRCm39) |
D2085E |
probably damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,378,003 (GRCm39) |
H232L |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,336,069 (GRCm39) |
Q484R |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,745,021 (GRCm39) |
S3044P |
possibly damaging |
Het |
| Snrnp48 |
A |
G |
13: 38,405,336 (GRCm39) |
D248G |
possibly damaging |
Het |
| Snrpc |
C |
A |
17: 28,064,193 (GRCm39) |
P66Q |
unknown |
Het |
| Snrpn |
T |
A |
7: 59,633,207 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,846,672 (GRCm39) |
S65R |
possibly damaging |
Het |
| Srsf6 |
C |
A |
2: 162,776,408 (GRCm39) |
|
probably benign |
Het |
| Stil |
T |
A |
4: 114,898,979 (GRCm39) |
M1203K |
probably benign |
Het |
| Syt17 |
T |
C |
7: 118,036,061 (GRCm39) |
T106A |
probably benign |
Het |
| Tbx15 |
C |
T |
3: 99,259,562 (GRCm39) |
Q478* |
probably null |
Het |
| Tg |
A |
T |
15: 66,609,397 (GRCm39) |
Q319L |
probably benign |
Het |
| Thada |
A |
G |
17: 84,755,461 (GRCm39) |
L243P |
probably damaging |
Het |
| Thada |
G |
T |
17: 84,755,462 (GRCm39) |
L243I |
probably damaging |
Het |
| Tnnt3 |
A |
G |
7: 142,066,101 (GRCm39) |
R211G |
probably damaging |
Het |
| Togaram1 |
A |
T |
12: 65,049,409 (GRCm39) |
Q1282L |
possibly damaging |
Het |
| Tpm3-rs7 |
T |
G |
14: 113,552,379 (GRCm39) |
M91R |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ttll7 |
T |
G |
3: 146,621,535 (GRCm39) |
L378R |
probably damaging |
Het |
| Tyw1 |
T |
G |
5: 130,287,834 (GRCm39) |
I22R |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,846,711 (GRCm39) |
S1645P |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,120,364 (GRCm39) |
L263P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,663,621 (GRCm39) |
E1071G |
possibly damaging |
Het |
| Vmn2r44 |
G |
T |
7: 8,383,122 (GRCm39) |
D157E |
possibly damaging |
Het |
| Vps16 |
C |
T |
2: 130,285,520 (GRCm39) |
T821I |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,415,389 (GRCm39) |
V793A |
possibly damaging |
Het |
| Wdr35 |
G |
T |
12: 9,027,435 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
A |
G |
12: 40,414,084 (GRCm39) |
F254L |
probably benign |
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 |
|
R1818:Ahi1
|
UTSW |
10 |
20,864,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Ahi1
|
UTSW |
10 |
20,835,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TGTGACTCCTAGTTTGACAGGC -3'
(R):5'- TTTCTAGACTCCCATTATCCCACAAAG -3'
Sequencing Primer
(F):5'- CTCCTAGTTTGACAGGCATTTTATTG -3'
(R):5'- CCCACAAAGGCACATAATTTTTATTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation