Incidental Mutation 'R0627:Ahi1'
| ID |
57629 |
| 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 |
038816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.911)
|
| Stock # |
R0627 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20841421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 236
(R236H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149010
(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: R236H
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: R236H
| 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: R236H
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.2%
|
| Validation Efficiency |
99% (111/112) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adm2 |
T |
A |
15: 89,208,508 (GRCm39) |
Y149* |
probably null |
Het |
| Armcx4 |
A |
G |
X: 133,596,572 (GRCm39) |
N2160S |
possibly damaging |
Het |
| Asns |
A |
T |
6: 7,675,516 (GRCm39) |
D495E |
probably benign |
Het |
| Atosb |
G |
T |
4: 43,036,242 (GRCm39) |
P163Q |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,112,789 (GRCm39) |
V1222A |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,774,494 (GRCm39) |
C14S |
probably benign |
Het |
| Cdk11b |
T |
A |
4: 155,725,229 (GRCm39) |
|
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,135 (GRCm39) |
Y115H |
probably damaging |
Het |
| Cep41 |
C |
A |
6: 30,656,630 (GRCm39) |
C274F |
probably damaging |
Het |
| Ces1a |
C |
A |
8: 93,768,671 (GRCm39) |
V108F |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,634,020 (GRCm39) |
Y132H |
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,686,781 (GRCm39) |
E1323G |
unknown |
Het |
| Cttnbp2 |
A |
G |
6: 18,367,372 (GRCm39) |
*1139Q |
probably null |
Het |
| Cyp2d9 |
T |
A |
15: 82,339,991 (GRCm39) |
I127N |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,008,957 (GRCm39) |
Y220C |
probably damaging |
Het |
| Desi2 |
T |
C |
1: 178,076,918 (GRCm39) |
S141P |
possibly damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,661,872 (GRCm39) |
S453P |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,620,138 (GRCm39) |
L1586P |
probably damaging |
Het |
| Dpep3 |
T |
C |
8: 106,705,363 (GRCm39) |
D129G |
possibly damaging |
Het |
| Eci3 |
C |
T |
13: 35,132,126 (GRCm39) |
V241I |
possibly damaging |
Het |
| Ecm2 |
A |
T |
13: 49,674,559 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
A |
G |
2: 160,750,096 (GRCm39) |
L551P |
probably damaging |
Het |
| Erap1 |
A |
C |
13: 74,823,933 (GRCm39) |
|
probably benign |
Het |
| Ern1 |
T |
C |
11: 106,289,519 (GRCm39) |
D928G |
probably benign |
Het |
| Fancc |
C |
A |
13: 63,465,292 (GRCm39) |
A472S |
probably damaging |
Het |
| Fkbp7 |
A |
T |
2: 76,503,188 (GRCm39) |
D57E |
probably damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,681,223 (GRCm39) |
I703F |
possibly damaging |
Het |
| Gabrg3 |
A |
T |
7: 56,374,343 (GRCm39) |
C408S |
probably damaging |
Het |
| Gm8674 |
T |
C |
13: 50,053,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
G |
A |
2: 174,139,928 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,279,992 (GRCm39) |
V354A |
probably benign |
Het |
| Gsdme |
G |
T |
6: 50,206,259 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
A |
G |
17: 35,484,898 (GRCm39) |
E253G |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,302,478 (GRCm39) |
T31A |
probably damaging |
Het |
| Ifrd1 |
A |
G |
12: 40,256,986 (GRCm39) |
|
probably null |
Het |
| Il20 |
A |
G |
1: 130,837,476 (GRCm39) |
|
probably benign |
Het |
| Isx |
A |
T |
8: 75,619,328 (GRCm39) |
I160F |
possibly damaging |
Het |
| Itgb2l |
T |
G |
16: 96,224,111 (GRCm39) |
|
probably benign |
Het |
| Kcnv1 |
T |
G |
15: 44,976,277 (GRCm39) |
|
probably benign |
Het |
| Kif17 |
T |
C |
4: 138,015,798 (GRCm39) |
|
probably null |
Het |
| Kirrel3 |
A |
C |
9: 34,946,470 (GRCm39) |
D743A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,032 (GRCm39) |
D263G |
probably damaging |
Het |
| Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
| Mark2 |
C |
T |
19: 7,259,325 (GRCm39) |
|
probably null |
Het |
| Med10 |
G |
A |
13: 69,963,720 (GRCm39) |
S107N |
possibly damaging |
Het |
| Med31 |
A |
G |
11: 72,104,601 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
A |
7: 135,309,987 (GRCm39) |
A155S |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,660,798 (GRCm39) |
L2193Q |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,820,799 (GRCm39) |
N126S |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,489,689 (GRCm39) |
I715V |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,946,700 (GRCm39) |
T1591A |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,437,482 (GRCm39) |
D64E |
probably benign |
Het |
| Ndufa10 |
A |
T |
1: 92,397,618 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nob1 |
A |
G |
8: 108,142,856 (GRCm39) |
F275S |
probably damaging |
Het |
| Nop2 |
T |
C |
6: 125,116,667 (GRCm39) |
V333A |
possibly damaging |
Het |
| Ogdh |
T |
A |
11: 6,297,216 (GRCm39) |
V545D |
possibly damaging |
Het |
| Or1l4b |
T |
G |
2: 37,036,342 (GRCm39) |
N39K |
probably damaging |
Het |
| Or4p21 |
A |
G |
2: 88,276,563 (GRCm39) |
S240P |
probably damaging |
Het |
| Or5b107 |
A |
G |
19: 13,142,614 (GRCm39) |
T79A |
probably benign |
Het |
| Or5t16 |
T |
C |
2: 86,819,358 (GRCm39) |
N54S |
probably benign |
Het |
| Or6d13 |
T |
A |
6: 116,517,949 (GRCm39) |
N178K |
possibly damaging |
Het |
| Or6n2 |
G |
T |
1: 173,897,643 (GRCm39) |
V260F |
probably damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,557 (GRCm39) |
F64S |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,774 (GRCm39) |
F242L |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,558,155 (GRCm39) |
Y278C |
probably damaging |
Het |
| Plxdc1 |
T |
A |
11: 97,823,030 (GRCm39) |
|
probably null |
Het |
| Ppp2r5b |
A |
G |
19: 6,282,664 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
C |
A |
4: 144,089,416 (GRCm39) |
L245I |
probably benign |
Het |
| Prelid2 |
T |
A |
18: 42,070,717 (GRCm39) |
T39S |
possibly damaging |
Het |
| Prkd1 |
A |
T |
12: 50,536,824 (GRCm39) |
F87I |
probably benign |
Het |
| Prl3d3 |
C |
T |
13: 27,340,830 (GRCm39) |
T4I |
probably damaging |
Het |
| Proser3 |
T |
A |
7: 30,240,208 (GRCm39) |
T299S |
probably benign |
Het |
| Ptprc |
G |
T |
1: 137,996,058 (GRCm39) |
H1095N |
probably damaging |
Het |
| Rab11fip5 |
G |
T |
6: 85,325,033 (GRCm39) |
P425T |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,449,168 (GRCm39) |
T115A |
probably damaging |
Het |
| Rtl9 |
C |
A |
X: 141,884,271 (GRCm39) |
T561K |
possibly damaging |
Het |
| Runx2 |
T |
C |
17: 44,969,392 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,555,518 (GRCm39) |
V613I |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,367,721 (GRCm39) |
K656R |
probably benign |
Het |
| Sec31b |
A |
G |
19: 44,514,046 (GRCm39) |
S406P |
probably benign |
Het |
| Septin5 |
T |
C |
16: 18,444,115 (GRCm39) |
D44G |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc35c2 |
T |
C |
2: 165,124,056 (GRCm39) |
T94A |
possibly damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,616 (GRCm39) |
D401V |
probably damaging |
Het |
| Slitrk1 |
A |
T |
14: 109,149,671 (GRCm39) |
C347S |
probably damaging |
Het |
| Smg1 |
G |
T |
7: 117,767,084 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,276,483 (GRCm39) |
K610E |
probably benign |
Het |
| Spata31e2 |
A |
G |
1: 26,724,970 (GRCm39) |
M70T |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,762,337 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
T |
A |
1: 46,068,851 (GRCm39) |
|
noncoding transcript |
Het |
| Sult3a1 |
T |
C |
10: 33,740,010 (GRCm39) |
M23T |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,548,682 (GRCm39) |
L50P |
possibly damaging |
Het |
| Tacr1 |
A |
G |
6: 82,532,012 (GRCm39) |
I303V |
possibly damaging |
Het |
| Trip12 |
C |
A |
1: 84,746,318 (GRCm39) |
V487F |
probably damaging |
Het |
| Vcp |
A |
G |
4: 42,983,011 (GRCm39) |
S612P |
possibly damaging |
Het |
| Vmn1r47 |
A |
G |
6: 89,999,788 (GRCm39) |
I307V |
probably null |
Het |
| Vmn1r83 |
T |
G |
7: 12,055,919 (GRCm39) |
D46A |
probably damaging |
Het |
| Vmn2r118 |
G |
T |
17: 55,917,772 (GRCm39) |
Q247K |
probably benign |
Het |
| Vmn2r94 |
C |
T |
17: 18,477,427 (GRCm39) |
C328Y |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,372,145 (GRCm39) |
Y13* |
probably null |
Het |
| Vps13d |
C |
T |
4: 144,813,754 (GRCm39) |
R3241H |
probably damaging |
Het |
| Wdr5b |
A |
G |
16: 35,862,840 (GRCm39) |
T320A |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,302,784 (GRCm39) |
D1733E |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,829,607 (GRCm39) |
|
probably benign |
Het |
| Zfp708 |
A |
T |
13: 67,218,781 (GRCm39) |
Y314* |
probably null |
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 |
|
|
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 |
|
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'- TCTCAGTTAAGCTTCTGAAGGAGTTGC -3'
(R):5'- TCATCTGGCTCCCATAGAGCATACTAC -3'
Sequencing Primer
(F):5'- ATGCAAGATTGTAAGAAGACACC -3'
(R):5'- CTCAAAGAACAGGATGACTTTTGGAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation