Incidental Mutation 'R7169:Ahi1'
ID 558135
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 045229-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.866) question?
Stock # R7169 (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 G at 20930918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 919 (D919E)
Ref Sequence ENSEMBL: ENSMUSP00000101164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105525] [ENSMUST00000163505] [ENSMUST00000213104]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000105525
AA Change: D919E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: D919E

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 damaging
Transcript: ENSMUST00000163505
AA Change: D14E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127043
Gene: ENSMUSG00000019986
AA Change: D14E

DomainStartEndE-ValueType
SH3 1 56 2.36e-18 SMART
low complexity region 70 84 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213104
AA Change: D919E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,040,707 (GRCm39) V870A probably damaging Het
Angptl6 T A 9: 20,786,475 (GRCm39) R390S probably damaging Het
Arhgef11 A G 3: 87,634,755 (GRCm39) I873V possibly damaging Het
BC024063 T C 10: 81,946,293 (GRCm39) Y638H possibly damaging Het
Brsk1 T C 7: 4,718,403 (GRCm39) S751P probably benign Het
Calhm5 T A 10: 33,968,160 (GRCm39) T298S probably damaging Het
Cdh20 G A 1: 104,875,078 (GRCm39) A287T possibly damaging Het
Clic3 G A 2: 25,348,731 (GRCm39) R237H probably benign Het
Cog6 G T 3: 52,897,387 (GRCm39) P562H possibly damaging Het
Csnk2a2 A G 8: 96,215,006 (GRCm39) Y24H Het
Ctif T C 18: 75,605,087 (GRCm39) D484G probably damaging Het
Cyria A G 12: 12,409,233 (GRCm39) D71G possibly damaging Het
Dennd6b A T 15: 89,073,055 (GRCm39) F161I possibly damaging Het
Dnah14 G T 1: 181,529,930 (GRCm39) V2235L probably benign Het
Dnah6 A T 6: 73,015,729 (GRCm39) V3636D probably damaging Het
Dpm1 A T 2: 168,053,343 (GRCm39) Y207* probably null Het
Eml3 A G 19: 8,910,828 (GRCm39) T227A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eppk1 C A 15: 75,990,114 (GRCm39) A2256S probably benign Het
Etnppl A T 3: 130,414,345 (GRCm39) N80I probably damaging Het
Eya4 A T 10: 23,031,845 (GRCm39) N236K probably benign Het
Gm12886 T G 4: 121,273,948 (GRCm39) Q89H probably damaging Het
Gsdme T C 6: 50,204,358 (GRCm39) T200A probably benign Het
Hipk1 C T 3: 103,651,533 (GRCm39) A1122T probably benign Het
Icos A G 1: 61,034,705 (GRCm39) D176G probably damaging Het
Igkv5-43 T A 6: 69,800,519 (GRCm39) Y56F probably damaging Het
Il1r1 T C 1: 40,332,519 (GRCm39) probably null Het
Ildr2 G A 1: 166,135,503 (GRCm39) probably null Het
Ilf3 T A 9: 21,306,722 (GRCm39) H305Q probably damaging Het
Insrr A G 3: 87,715,901 (GRCm39) H532R probably benign Het
Lmbr1l CACTACATACTACATACTACATACTACATACTACATACTACATAC CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC 15: 98,807,039 (GRCm39) probably null Het
Lmbr1l ACTACAT ACTACATGCTACAT 15: 98,807,075 (GRCm39) probably benign Het
Lratd1 A G 12: 14,200,619 (GRCm39) F36S probably damaging Het
Lrrc25 T G 8: 71,070,437 (GRCm39) S73A probably benign Het
Lrrn1 T C 6: 107,544,565 (GRCm39) L121P probably damaging Het
Ly6c1 C A 15: 74,916,495 (GRCm39) V116L probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Mroh7 T A 4: 106,548,836 (GRCm39) D1009V probably damaging Het
Mybpc3 T C 2: 90,948,524 (GRCm39) V4A possibly damaging Het
Mycbp2 A G 14: 103,497,636 (GRCm39) S979P possibly damaging Het
Ntn5 C T 7: 45,336,198 (GRCm39) R210* probably null Het
Nuak1 T C 10: 84,210,609 (GRCm39) D493G probably damaging Het
Oprk1 T A 1: 5,659,304 (GRCm39) D11E probably benign Het
Or13a1 G T 6: 116,471,025 (GRCm39) A152S probably benign Het
Or4f14 A G 2: 111,742,939 (GRCm39) M112T possibly damaging Het
Or4k37 T A 2: 111,158,943 (GRCm39) Y60N probably damaging Het
Or56a41 T C 7: 104,740,397 (GRCm39) I150V possibly damaging Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pkm A G 9: 59,578,908 (GRCm39) D296G possibly damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pop5 T A 5: 115,378,287 (GRCm39) V77E possibly damaging Het
Ppp1r10 T C 17: 36,240,365 (GRCm39) S552P probably damaging Het
Rabggta C G 14: 55,958,358 (GRCm39) R101P probably damaging Het
Rorc A T 3: 94,296,487 (GRCm39) E243V probably benign Het
Setmar C A 6: 108,042,049 (GRCm39) A3E possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc12a7 G A 13: 73,932,679 (GRCm39) V56M probably benign Het
Snph T A 2: 151,436,307 (GRCm39) N207I probably damaging Het
Snx14 A G 9: 88,280,362 (GRCm39) V531A probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tlr3 A T 8: 45,850,056 (GRCm39) M871K probably damaging Het
Tnfrsf11a A T 1: 105,772,421 (GRCm39) R569S possibly damaging Het
Trim66 A G 7: 109,054,328 (GRCm39) V1294A probably benign Het
Vldlr G A 19: 27,221,728 (GRCm39) V698I probably benign Het
Vmn2r73 G A 7: 85,507,663 (GRCm39) Q550* probably null Het
Zdhhc5 A T 2: 84,532,675 (GRCm39) probably null Het
Zfhx3 T A 8: 109,678,030 (GRCm39) Y3027N possibly damaging Het
Zfp663 C T 2: 165,194,359 (GRCm39) S620N 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
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
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'- TAGCCATTTCTCAATCCCACAG -3'
(R):5'- TGGGCTCCGTTCTATCATAGTG -3'

Sequencing Primer
(F):5'- TGATCCTATTAGCAACCCCTGAG -3'
(R):5'- CCGTTCTATCATAGTGTACCAGGAAG -3'
Posted On 2019-06-26