Incidental Mutation 'R2566:Ahi1'
ID 254482
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 040425-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R2566 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 20828446-20956328 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 20846810 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 413 (C413*)
Ref Sequence ENSEMBL: ENSMUSP00000149010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105525] [ENSMUST00000213104]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000105525
AA Change: C413*
SMART Domains Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: C413*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000213104
AA Change: C413*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,055,701 (GRCm39) K408E probably damaging Het
2010315B03Rik T A 9: 124,055,783 (GRCm39) K380N probably damaging Het
9230104M06Rik C T 12: 112,964,359 (GRCm39) probably benign Het
Alms1 T A 6: 85,599,464 (GRCm39) M1430K possibly damaging Het
Ankrd52 G T 10: 128,225,220 (GRCm39) A894S probably benign Het
Arhgap33 C A 7: 30,226,654 (GRCm39) V494L probably damaging Het
Atic G T 1: 71,608,130 (GRCm39) V275F probably damaging Het
Atoh1 T A 6: 64,706,668 (GRCm39) V121E probably damaging Het
Atp5pd T A 11: 115,306,864 (GRCm39) probably null Het
Baiap2l2 A T 15: 79,146,174 (GRCm39) probably null Het
Brca2 A T 5: 150,465,227 (GRCm39) T1664S probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Celf3 ACAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCA 3: 94,395,537 (GRCm39) probably benign Het
Cep350 A T 1: 155,835,464 (GRCm39) probably null Het
Ces2g T C 8: 105,692,621 (GRCm39) probably null Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,500,368 (GRCm39) F457S probably damaging Het
Disp3 T A 4: 148,325,880 (GRCm39) T1293S probably damaging Het
Dock10 T A 1: 80,517,970 (GRCm39) I1348F possibly damaging Het
Dsp A T 13: 38,380,380 (GRCm39) H1776L probably damaging Het
Efhd1 A T 1: 87,237,477 (GRCm39) Q228L possibly damaging Het
Entpd2 T A 2: 25,289,295 (GRCm39) I259N probably benign Het
Fam149b A T 14: 20,425,578 (GRCm39) M138L probably damaging Het
Fastkd5 T C 2: 130,458,285 (GRCm39) K102E probably benign Het
Fzd7 C A 1: 59,523,695 (GRCm39) T526K possibly damaging Het
G6pd2 T A 5: 61,966,330 (GRCm39) I35N probably damaging Het
Gars1 T A 6: 55,042,548 (GRCm39) M427K probably damaging Het
Gimap4 C T 6: 48,667,799 (GRCm39) R57C probably damaging Het
Gm11232 C A 4: 71,676,022 (GRCm39) W41L probably benign Het
Gm15737 T A 6: 92,856,701 (GRCm39) C43* probably null Het
Gpr180 T C 14: 118,377,185 (GRCm39) V62A probably benign Het
H2-M11 C T 17: 36,859,042 (GRCm39) T194I possibly damaging Het
Jakmip3 A T 7: 138,591,197 (GRCm39) E27V possibly damaging Het
Kcnq3 T C 15: 65,903,276 (GRCm39) T145A probably damaging Het
Krt8 A G 15: 101,906,459 (GRCm39) M350T probably benign Het
Krtap4-9 T A 11: 99,676,492 (GRCm39) probably benign Het
Lbr G T 1: 181,663,692 (GRCm39) D109E probably damaging Het
Ldc1 A T 4: 130,103,681 (GRCm39) L420Q probably benign Het
Med23 A G 10: 24,764,473 (GRCm39) H42R probably damaging Het
Mgat5 A T 1: 127,234,741 (GRCm39) M77L probably benign Het
Mlf1 A T 3: 67,291,919 (GRCm39) N28I possibly damaging Het
Mroh3 A C 1: 136,125,864 (GRCm39) L343R probably damaging Het
Mrpl37 T A 4: 106,921,690 (GRCm39) I180F possibly damaging Het
Mrps27 T A 13: 99,536,836 (GRCm39) C116* probably null Het
Muc6 A G 7: 141,226,651 (GRCm39) S1354P possibly damaging Het
Myh7 A T 14: 55,220,699 (GRCm39) D1033E probably damaging Het
Myo16 A T 8: 10,644,820 (GRCm39) E1717D probably benign Het
Myo1g T A 11: 6,462,539 (GRCm39) probably null Het
Or51ag1 A G 7: 103,155,367 (GRCm39) M262T probably benign Het
Or6c217 A C 10: 129,737,964 (GRCm39) L205R probably damaging Het
Pan2 T C 10: 128,149,766 (GRCm39) L576P probably damaging Het
Parp8 A G 13: 117,032,223 (GRCm39) S278P possibly damaging Het
Pdk2 A G 11: 94,918,028 (GRCm39) probably null Het
Phf1 T C 17: 27,156,062 (GRCm39) S450P probably damaging Het
Pkd1l2 T C 8: 117,746,233 (GRCm39) Y1919C probably damaging Het
Postn T A 3: 54,284,374 (GRCm39) S614T probably damaging Het
Psmg1 A T 16: 95,783,395 (GRCm39) Y213* probably null Het
Rab11b T A 17: 33,966,692 (GRCm39) T203S probably benign Het
Rad54l2 T A 9: 106,580,825 (GRCm39) T899S possibly damaging Het
Ramp2 TTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 11: 101,137,371 (GRCm39) probably benign Het
Rapgef6 A G 11: 54,578,537 (GRCm39) T1028A possibly damaging Het
Rbm6 A G 9: 107,669,197 (GRCm39) S58P possibly damaging Het
Rreb1 G T 13: 38,113,768 (GRCm39) A376S possibly damaging Het
Rsbn1l T A 5: 21,124,767 (GRCm39) N345I probably benign Het
Sf3b2 A T 19: 5,325,118 (GRCm39) S785T possibly damaging Het
Sh2b1 C T 7: 126,068,098 (GRCm39) D519N probably damaging Het
Slitrk6 T C 14: 110,987,704 (GRCm39) T668A probably benign Het
Stkld1 T A 2: 26,840,650 (GRCm39) I444N probably damaging Het
Sucla2 A T 14: 73,790,244 (GRCm39) probably benign Het
Tmem67 T A 4: 12,079,918 (GRCm39) L190F probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trem2 G A 17: 48,658,863 (GRCm39) W191* probably null Het
Ube2d4 A T 15: 58,718,528 (GRCm39) noncoding transcript Het
Uimc1 G T 13: 55,223,617 (GRCm39) D218E probably damaging Het
Wdr62 A T 7: 29,973,424 (GRCm39) V95E probably damaging Het
Zfhx4 T C 3: 5,310,203 (GRCm39) V862A probably damaging Het
Zfp462 T A 4: 55,008,522 (GRCm39) S163T probably benign Het
Zfp704 T C 3: 9,674,553 (GRCm39) D76G unknown Het
Other mutations in Ahi1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TTGACCCCATGACAGGAGTG -3'
(R):5'- GCCGACAGTAAGCAGCATTAAC -3'

Sequencing Primer
(F):5'- AGTGAGCCAGTTCCCACAAGTG -3'
(R):5'- CCCAGCTAAATAAAGAGTACTCAGAG -3'
Posted On 2014-12-04