Incidental Mutation 'R2148:Ahi1'
ID 234027
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 040151-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.911) question?
Stock # R2148 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 20828446-20956328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 20846875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 435 (V435G)
Ref Sequence ENSEMBL: ENSMUSP00000149010 (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: V435G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: V435G

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 possibly damaging
Transcript: ENSMUST00000213104
AA Change: V435G

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Abca13 A G 11: 9,565,764 (GRCm39) Y4796C probably damaging Het
Actn2 A T 13: 12,315,835 (GRCm39) M228K probably damaging Het
Agbl1 T G 7: 76,064,465 (GRCm39) probably null Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
Bop1 A G 15: 76,339,487 (GRCm39) V286A probably damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cacna1a A T 8: 85,356,304 (GRCm39) Q1887L possibly damaging Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Cnot2 A G 10: 116,342,185 (GRCm39) I173T probably benign Het
Cntnap5b T A 1: 100,311,199 (GRCm39) I564N probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dgkd T G 1: 87,809,643 (GRCm39) N110K probably damaging Het
Dhx8 A T 11: 101,629,203 (GRCm39) R198* probably null Het
Dnah8 A T 17: 30,956,232 (GRCm39) I2071F probably damaging Het
Dsc3 C T 18: 20,098,695 (GRCm39) R828Q probably damaging Het
Fbxl4 T C 4: 22,427,333 (GRCm39) F525L possibly damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gpatch1 A G 7: 34,998,701 (GRCm39) V343A probably benign Het
Gpr139 A G 7: 118,744,192 (GRCm39) V131A probably benign Het
Hamp T C 7: 30,642,137 (GRCm39) T34A possibly damaging Het
Homer2 T G 7: 81,274,043 (GRCm39) D51A possibly damaging Het
Hspa1l C T 17: 35,196,366 (GRCm39) A135V probably damaging Het
Igsf10 A G 3: 59,243,998 (GRCm39) M112T possibly damaging Het
Ikbkb A T 8: 23,172,761 (GRCm39) L153Q probably damaging Het
Kif19a A T 11: 114,671,594 (GRCm39) I158F probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Llcfc1 G A 6: 41,662,155 (GRCm39) G53D possibly damaging Het
Loxl4 A G 19: 42,592,631 (GRCm39) probably null Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Mak T C 13: 41,195,513 (GRCm39) K400R probably benign Het
Mgat4c T C 10: 102,224,790 (GRCm39) F335L probably benign Het
Mgat4f T A 1: 134,318,251 (GRCm39) M341K probably damaging Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mtor T C 4: 148,540,469 (GRCm39) F245L possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo5a T A 9: 75,087,429 (GRCm39) L1095H probably damaging Het
Nlrp1a T A 11: 71,013,733 (GRCm39) K506* probably null Het
Or5d18 C A 2: 87,864,943 (GRCm39) C180F probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Phkb A G 8: 86,744,115 (GRCm39) D588G probably damaging Het
Pkd1l2 A T 8: 117,783,064 (GRCm39) I752N probably damaging Het
Pkhd1 C A 1: 20,484,444 (GRCm39) probably null Het
Plod3 C T 5: 137,016,627 (GRCm39) R30* probably null Het
Ppfia4 T C 1: 134,240,372 (GRCm39) I591V probably benign Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Ptgs2 G T 1: 149,981,465 (GRCm39) A583S probably benign Het
Pycr2 T C 1: 180,734,413 (GRCm39) V231A probably damaging Het
Ralgapa2 T C 2: 146,273,807 (GRCm39) D540G probably benign Het
Rasal1 T A 5: 120,800,096 (GRCm39) I150N probably damaging Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Sacs T C 14: 61,410,827 (GRCm39) L34P probably damaging Het
Sema3d A G 5: 12,534,926 (GRCm39) Y106C probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Slc19a2 T C 1: 164,089,657 (GRCm39) W158R probably damaging Het
Sorbs1 A T 19: 40,365,268 (GRCm39) F172I possibly damaging Het
Spaca7 A T 8: 12,636,447 (GRCm39) D91V probably damaging Het
Tead3 A G 17: 28,552,638 (GRCm39) F187L probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem132c T A 5: 127,540,026 (GRCm39) W351R probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Trap1 T C 16: 3,878,624 (GRCm39) D236G probably damaging Het
Trim45 T A 3: 100,839,360 (GRCm39) L754* probably null Het
Tubgcp5 A G 7: 55,449,259 (GRCm39) E152G probably damaging Het
Uaca A T 9: 60,776,961 (GRCm39) L447F probably damaging Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Wdr11 A G 7: 129,230,807 (GRCm39) probably null Het
Zfp462 T A 4: 55,013,670 (GRCm39) S1879T probably benign Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G 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
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'- CAAGTGTGCCATGGCTTGTG -3'
(R):5'- TCATCACGATAGCCCTGTGG -3'

Sequencing Primer
(F):5'- GTGTTTGTGCACATGTTTAATTTAAC -3'
(R):5'- CCTGTGGATAATTATTGTCAGCCGAC -3'
Posted On 2014-10-01