Incidental Mutation 'R5704:Ahi1'
| ID |
451867 |
| 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 |
043329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.866)
|
| Stock # |
R5704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
20828446-20956328 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 20950326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 126
(M126L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105525]
[ENSMUST00000163505]
[ENSMUST00000213104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105525
AA Change: M1031L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: M1031L
| 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: ENSMUST00000163505
AA Change: M126L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127043
Gene: ENSMUSG00000019986
AA Change: M126L
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
56 |
2.36e-18 |
SMART |
|
low complexity region
|
70 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215543
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (85/87) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,769,606 (GRCm39) |
S617P |
probably benign |
Het |
| Alk |
T |
C |
17: 72,910,115 (GRCm39) |
E197G |
probably damaging |
Het |
| Alyref2 |
A |
T |
1: 171,331,547 (GRCm39) |
Y108F |
probably damaging |
Het |
| Ankrd26 |
T |
G |
6: 118,500,843 (GRCm39) |
H876P |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,808 (GRCm39) |
T1298A |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,219,045 (GRCm39) |
|
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,050 (GRCm39) |
V1819E |
unknown |
Het |
| Asprv1 |
A |
G |
6: 86,605,532 (GRCm39) |
N126S |
probably damaging |
Het |
| Atg16l2 |
T |
C |
7: 100,949,418 (GRCm39) |
Y43C |
probably damaging |
Het |
| Atp13a3 |
G |
T |
16: 30,140,697 (GRCm39) |
T1160K |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,696,736 (GRCm39) |
T272A |
probably damaging |
Het |
| Bpifa3 |
G |
T |
2: 153,979,562 (GRCm39) |
|
probably null |
Het |
| Bri3 |
T |
C |
5: 144,192,716 (GRCm39) |
V80A |
probably damaging |
Het |
| Ccdc28a |
T |
A |
10: 18,106,320 (GRCm39) |
E2V |
probably damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,706,577 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
G |
A |
2: 132,135,249 (GRCm39) |
V47I |
probably benign |
Het |
| Cela2a |
G |
A |
4: 141,553,299 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
A |
G |
2: 91,406,548 (GRCm39) |
Y783C |
probably damaging |
Het |
| Cmtr1 |
G |
C |
17: 29,882,217 (GRCm39) |
A23P |
possibly damaging |
Het |
| Crym |
C |
A |
7: 119,801,163 (GRCm39) |
|
probably null |
Het |
| Def6 |
T |
G |
17: 28,447,200 (GRCm39) |
D610E |
probably benign |
Het |
| Dnajc15 |
T |
C |
14: 78,063,898 (GRCm39) |
Y130C |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,151,586 (GRCm39) |
V1560I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,918,003 (GRCm39) |
V1501A |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,347,379 (GRCm39) |
S1049P |
probably damaging |
Het |
| Gm4952 |
G |
T |
19: 12,604,275 (GRCm39) |
R229L |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,455,707 (GRCm39) |
H548Q |
probably benign |
Het |
| Gspt1 |
A |
T |
16: 11,046,057 (GRCm39) |
D449E |
possibly damaging |
Het |
| Gtf3c2 |
T |
A |
5: 31,316,454 (GRCm39) |
D732V |
probably damaging |
Het |
| Hax1 |
T |
A |
3: 89,903,403 (GRCm39) |
Q168L |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,576,291 (GRCm39) |
S91T |
possibly damaging |
Het |
| Igfbp2 |
T |
A |
1: 72,891,303 (GRCm39) |
H300Q |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,269,197 (GRCm39) |
N538S |
possibly damaging |
Het |
| Insr |
G |
A |
8: 3,235,122 (GRCm39) |
P124L |
possibly damaging |
Het |
| Irak3 |
C |
A |
10: 119,981,594 (GRCm39) |
R437L |
probably benign |
Het |
| Jhy |
C |
T |
9: 40,808,734 (GRCm39) |
V676I |
probably damaging |
Het |
| Kcns3 |
G |
A |
12: 11,142,328 (GRCm39) |
R124C |
probably benign |
Het |
| Lactb |
G |
A |
9: 66,863,058 (GRCm39) |
R519* |
probably null |
Het |
| Mdfic |
G |
A |
6: 15,770,291 (GRCm39) |
G94D |
probably damaging |
Het |
| Mospd3 |
A |
G |
5: 137,598,613 (GRCm39) |
V42A |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,706,912 (GRCm39) |
V666A |
probably benign |
Het |
| Mucl1 |
T |
C |
15: 103,785,663 (GRCm39) |
I15V |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,828,392 (GRCm39) |
V268D |
possibly damaging |
Het |
| Myo5c |
T |
A |
9: 75,180,185 (GRCm39) |
S709T |
probably benign |
Het |
| Nol11 |
T |
A |
11: 107,064,195 (GRCm39) |
E519V |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,824,267 (GRCm39) |
I791L |
probably benign |
Het |
| Nudt19 |
A |
G |
7: 35,250,972 (GRCm39) |
Y256H |
probably benign |
Het |
| Nudt8 |
C |
T |
19: 4,050,777 (GRCm39) |
R42C |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,369 (GRCm39) |
L140P |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,685 (GRCm39) |
I34F |
probably benign |
Het |
| Pcdhga12 |
A |
G |
18: 37,900,422 (GRCm39) |
Y418C |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Pdzd2 |
T |
C |
15: 12,385,761 (GRCm39) |
D1003G |
probably benign |
Het |
| Pglyrp4 |
T |
A |
3: 90,647,581 (GRCm39) |
|
probably null |
Het |
| Phip |
T |
C |
9: 82,753,408 (GRCm39) |
N1779D |
probably damaging |
Het |
| Postn |
G |
T |
3: 54,279,527 (GRCm39) |
C335F |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,049,619 (GRCm39) |
|
probably benign |
Het |
| Prrt2 |
C |
T |
7: 126,618,590 (GRCm39) |
V292M |
probably damaging |
Het |
| Rpl18 |
T |
C |
7: 45,370,146 (GRCm39) |
V138A |
possibly damaging |
Het |
| Rps14 |
G |
A |
18: 60,910,205 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,533,956 (GRCm39) |
|
probably null |
Het |
| Siah2 |
T |
G |
3: 58,583,821 (GRCm39) |
K155T |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc25a39 |
T |
A |
11: 102,294,220 (GRCm39) |
|
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,658,980 (GRCm39) |
M539V |
probably benign |
Het |
| Smok2b |
T |
A |
17: 13,455,231 (GRCm39) |
C464S |
probably damaging |
Het |
| Spata31 |
G |
A |
13: 65,069,855 (GRCm39) |
V668I |
probably benign |
Het |
| Tbxas1 |
C |
A |
6: 38,998,067 (GRCm39) |
H212N |
probably benign |
Het |
| Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
| Thada |
C |
T |
17: 84,538,329 (GRCm39) |
A1560T |
probably benign |
Het |
| Tmem241 |
G |
C |
18: 12,197,263 (GRCm39) |
F65L |
probably damaging |
Het |
| Ttc16 |
C |
G |
2: 32,659,137 (GRCm39) |
E321Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,748,929 (GRCm39) |
L4040H |
possibly damaging |
Het |
| Tyw1 |
G |
A |
5: 130,310,863 (GRCm39) |
W437* |
probably null |
Het |
| Unc79 |
T |
A |
12: 102,968,202 (GRCm39) |
Y143N |
probably damaging |
Het |
| Urb2 |
C |
T |
8: 124,764,921 (GRCm39) |
R1310W |
probably damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,317,370 (GRCm39) |
I34V |
probably benign |
Het |
| Zfp513 |
C |
T |
5: 31,358,010 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Zfp606 |
T |
G |
7: 12,227,456 (GRCm39) |
W468G |
probably damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,640,979 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
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'- TCCAGTGGTTTCCTCAGACC -3'
(R):5'- CTACCAACACTTCCTGCAGG -3'
Sequencing Primer
(F):5'- AGACCCTCCCACCTGTCG -3'
(R):5'- GCAGGCCACTAATAGCTTCTTGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation