Incidental Mutation 'R6395:Ahi1'
ID 514728
Institutional Source Beutler Lab
Gene Symbol Ahi1
Ensembl Gene ENSMUSG00000019986
Gene Name Abelson helper integration site 1
Synonyms Jouberin, Ahi-1, D10Bwg0629e, 1700015F03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # R6395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 20828446-20956328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20855491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 600 (I600T)
Ref Sequence ENSEMBL: ENSMUSP00000101164 (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: I600T

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: I600T

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 benign
Transcript: ENSMUST00000213104
AA Change: I600T

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Cct8 G T 16: 87,283,364 (GRCm39) Y292* probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Msto1 C T 3: 88,812,781 (GRCm39) A1854V possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pdlim5 G T 3: 142,020,183 (GRCm39) P92Q probably damaging Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rb1 A T 14: 73,436,636 (GRCm39) D876E probably damaging Het
Rnasel T C 1: 153,637,867 (GRCm39) M680T probably damaging Het
Rnf111 G T 9: 70,383,692 (GRCm39) N80K possibly damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Uri1 C A 7: 37,661,974 (GRCm39) V446L probably benign Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G possibly damaging 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
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
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'- ACGTTCAGAGTCTTACCTCAC -3'
(R):5'- CTTAGAGCAAAGGACGCGAC -3'

Sequencing Primer
(F):5'- AGAGTCTTACCTCACCCCTC -3'
(R):5'- TTTACAGTTAACAGAGCACGCC -3'
Posted On 2018-05-04