Incidental Mutation 'R1510:Ahi1'
ID 167861
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 039557-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # R1510 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 20828446-20956328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 20835699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 11 (S11A)
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: S11A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: S11A

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: S11A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (79/79)
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
Abcd2 A G 15: 91,073,181 (GRCm39) L326S probably damaging Het
Adam18 T A 8: 25,115,847 (GRCm39) T616S probably benign Het
Adam22 T C 5: 8,202,408 (GRCm39) K215E probably benign Het
Asb18 T C 1: 89,923,976 (GRCm39) M96V possibly damaging Het
Baz2b T C 2: 59,752,553 (GRCm39) D1149G probably damaging Het
C1qtnf3 A G 15: 10,975,722 (GRCm39) E176G probably benign Het
Cd151 T A 7: 141,050,280 (GRCm39) S172T probably benign Het
Cdh2 G T 18: 16,781,651 (GRCm39) L90I probably benign Het
Cdkl3 T C 11: 51,924,341 (GRCm39) V55A possibly damaging Het
Cfap90 T A 13: 68,745,596 (GRCm39) M1K probably null Het
Chst8 T A 7: 34,374,693 (GRCm39) H382L probably benign Het
Cyb5r4 T C 9: 86,948,696 (GRCm39) probably benign Het
Cyp2j13 T C 4: 95,950,209 (GRCm39) D264G possibly damaging Het
Daam1 A G 12: 72,024,500 (GRCm39) M814V probably damaging Het
Ddx19b A G 8: 111,742,285 (GRCm39) I150T probably damaging Het
Dync1li1 T G 9: 114,518,278 (GRCm39) S50A possibly damaging Het
Fat3 A T 9: 15,871,351 (GRCm39) L3680Q probably damaging Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Gm21286 T G 4: 60,794,931 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,060 (GRCm39) Y126H probably damaging Het
Inhba G T 13: 16,201,607 (GRCm39) V390L probably damaging Het
Ino80 C T 2: 119,280,530 (GRCm39) R278H probably damaging Het
Jade3 T G X: 20,384,057 (GRCm39) N799K probably benign Het
Kcnn1 G A 8: 71,316,714 (GRCm39) probably benign Het
Klhl6 T C 16: 19,765,848 (GRCm39) T585A probably damaging Het
Kmt2d T A 15: 98,754,258 (GRCm39) probably benign Het
Krt17 C T 11: 100,148,365 (GRCm39) E359K possibly damaging Het
Lce1b T G 3: 92,563,283 (GRCm39) R83S unknown Het
Lck T C 4: 129,449,461 (GRCm39) S290G possibly damaging Het
Ltbp3 T C 19: 5,798,915 (GRCm39) S544P probably benign Het
Lypd6b T A 2: 49,824,831 (GRCm39) S4R probably damaging Het
Macf1 T C 4: 123,328,555 (GRCm39) D4724G probably null Het
Mcoln2 A G 3: 145,882,365 (GRCm39) T255A probably benign Het
Mcph1 T A 8: 18,682,703 (GRCm39) probably null Het
Mki67 C A 7: 135,297,900 (GRCm39) R2378L probably benign Het
Mxd1 A G 6: 86,630,137 (GRCm39) V27A possibly damaging Het
Myo5a T C 9: 75,078,833 (GRCm39) Y864H probably benign Het
Ndel1 A T 11: 68,713,482 (GRCm39) N318K possibly damaging Het
Oasl1 A G 5: 115,066,167 (GRCm39) Q95R probably benign Het
Or5ac16 A T 16: 59,022,546 (GRCm39) M81K probably damaging Het
Or5j3 T C 2: 86,128,715 (GRCm39) L185P probably damaging Het
Or5p57 T C 7: 107,665,735 (GRCm39) Y60C probably damaging Het
Or6b2b A T 1: 92,419,339 (GRCm39) I46N probably damaging Het
Parp10 T A 15: 76,125,617 (GRCm39) Q487L probably damaging Het
Pcdh10 C T 3: 45,333,838 (GRCm39) R51C probably damaging Het
Pdpr A T 8: 111,851,107 (GRCm39) probably benign Het
Pfpl A T 19: 12,407,060 (GRCm39) D437V probably benign Het
Pik3c2a G A 7: 115,987,280 (GRCm39) T547I probably benign Het
Pkdrej A C 15: 85,700,963 (GRCm39) S1658A possibly damaging Het
Pkn3 T C 2: 29,969,776 (GRCm39) probably null Het
Plekhh2 A G 17: 84,867,004 (GRCm39) probably null Het
Plxdc1 A T 11: 97,823,150 (GRCm39) C357S probably damaging Het
Pnp A G 14: 51,188,042 (GRCm39) T132A possibly damaging Het
Prorp A T 12: 55,350,997 (GRCm39) Q102L probably benign Het
Rcan2 A G 17: 44,147,315 (GRCm39) D51G probably damaging Het
Rcn1 T C 2: 105,219,434 (GRCm39) N253S probably damaging Het
Rreb1 T A 13: 38,115,860 (GRCm39) I1073N probably benign Het
Scaf4 G T 16: 90,042,282 (GRCm39) D686E unknown Het
Sfxn5 A C 6: 85,213,907 (GRCm39) M221R probably damaging Het
Slc38a1 A G 15: 96,507,741 (GRCm39) F104L probably damaging Het
Slc8a1 A T 17: 81,955,547 (GRCm39) V497D probably damaging Het
Spryd3 C A 15: 102,027,396 (GRCm39) G290C probably damaging Het
Stc2 A T 11: 31,315,418 (GRCm39) Y140* probably null Het
Stfa2 A T 16: 36,228,673 (GRCm39) I8K possibly damaging Het
Sult3a2 A T 10: 33,658,026 (GRCm39) M29K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Triobp G A 15: 78,887,967 (GRCm39) R1908Q probably damaging Het
Trpm2 T A 10: 77,802,828 (GRCm39) R7* probably null Het
Ttn T C 2: 76,782,501 (GRCm39) I912V probably benign Het
Tusc2 T A 9: 107,442,080 (GRCm39) V93E probably damaging Het
Uhrf2 T A 19: 30,016,461 (GRCm39) probably benign Het
Umodl1 G A 17: 31,178,203 (GRCm39) V60M probably damaging Het
Ush2a A T 1: 188,380,501 (GRCm39) D2270V probably damaging Het
Vmn2r80 A G 10: 79,005,553 (GRCm39) T397A possibly damaging Het
Wbp2 A G 11: 115,977,708 (GRCm39) V15A probably benign Het
Zfp182 T A X: 20,896,446 (GRCm39) R617W probably damaging Het
Zfp82 C A 7: 29,756,047 (GRCm39) R345L probably damaging Het
Zfp85 T C 13: 67,903,084 (GRCm39) probably benign 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
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'- TCCTAGCCTGTTACCCTCAAAGTAACC -3'
(R):5'- AGCTTGTCGTCATGCAATAGAGTGTC -3'

Sequencing Primer
(F):5'- AGTAACCTTCTGGCTACCTTAGAAC -3'
(R):5'- TCATGCAATAGAGTGTCTGGAG -3'
Posted On 2014-04-13