Incidental Mutation 'IGL03377:Ahi1'
ID420545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ahi1
Ensembl Gene ENSMUSG00000019986
Gene NameAbelson helper integration site 1
Synonyms1700015F03Rik, Jouberin, D10Bwg0629e, Ahi-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.809) question?
Stock #IGL03377
Quality Score
Status
Chromosome10
Chromosomal Location20952547-21080429 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 21018004 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 878 (I878S)
Ref Sequence ENSEMBL: ENSMUSP00000101164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105525] [ENSMUST00000213104]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105525
AA Change: I878S

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: I878S

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: I878S

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214893
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 104,948,390 I489L probably benign Het
Acox3 T C 5: 35,594,332 L237P probably damaging Het
Alox15 T A 11: 70,349,662 Y231F probably damaging Het
Asxl1 A T 2: 153,396,780 K342M probably damaging Het
Atl2 T C 17: 79,865,090 I150M probably damaging Het
Bag6 T C 17: 35,144,982 Y822H probably damaging Het
Ccdc171 T C 4: 83,663,517 Y628H probably damaging Het
Ceacam5 T A 7: 17,715,131 Y141N probably benign Het
Ces1a A G 8: 93,039,488 V166A probably damaging Het
Chrdl2 G A 7: 100,022,052 A126T probably benign Het
Cyp2d26 T C 15: 82,790,554 E409G possibly damaging Het
Dicer1 T C 12: 104,712,197 I621V probably damaging Het
Enpp1 T A 10: 24,660,283 probably null Het
Epha2 T A 4: 141,322,412 S776R probably benign Het
Fam107b A T 2: 3,778,444 E52V probably damaging Het
Fam169a A G 13: 97,091,873 N18S probably benign Het
Fbxw21 A T 9: 109,139,529 F460I probably benign Het
Fgfr2 A T 7: 130,198,517 I329N probably damaging Het
Fndc7 T C 3: 108,876,532 S254G probably benign Het
Glis1 T G 4: 107,632,281 H688Q probably damaging Het
Grip1 A G 10: 120,055,032 E898G probably damaging Het
Gtf2a1l T A 17: 88,711,593 D368E probably benign Het
Gucy1a1 T A 3: 82,106,015 H440L probably damaging Het
H2-M10.5 A T 17: 36,773,485 D113V probably benign Het
Hook2 G T 8: 85,001,335 E554* probably null Het
Itpr2 T A 6: 146,329,758 T1135S probably benign Het
Itpr2 A C 6: 146,329,715 V1182G probably damaging Het
Kdm4c T C 4: 74,271,255 I69T possibly damaging Het
Klhl31 A T 9: 77,651,063 K354* probably null Het
Krt222 T A 11: 99,236,513 K159* probably null Het
Loxhd1 A G 18: 77,441,673 E2004G possibly damaging Het
Man2a2 A T 7: 80,359,052 probably null Het
Med24 A G 11: 98,705,136 F963L possibly damaging Het
Mphosph8 A G 14: 56,693,486 E744G probably damaging Het
Mypn A G 10: 63,192,865 S140P probably benign Het
Npc1 A G 18: 12,211,821 F331L probably benign Het
Obscn C A 11: 58,999,873 G1798W probably damaging Het
Olfr73 A T 2: 88,034,245 V298D probably damaging Het
Patj C T 4: 98,465,104 P110L probably damaging Het
Pkhd1l1 T G 15: 44,484,351 probably null Het
Prdm5 A G 6: 65,859,473 H256R possibly damaging Het
Ralgps1 A G 2: 33,172,461 Y267H probably damaging Het
Rfpl4 T G 7: 5,110,465 Y239S probably damaging Het
Rnpepl1 A T 1: 92,919,231 M592L probably benign Het
Serpinc1 A T 1: 160,993,442 H32L probably damaging Het
Skint5 T A 4: 113,763,538 T660S unknown Het
Slc26a2 T C 18: 61,198,586 N591S probably damaging Het
Slc9b2 C T 3: 135,336,358 A466V probably damaging Het
Slco1a5 T A 6: 142,234,766 T637S probably benign Het
Snx25 A G 8: 46,080,301 probably benign Het
Szt2 T C 4: 118,402,397 probably benign Het
Vmn1r183 A G 7: 24,055,392 M207V possibly damaging Het
Wdcp T G 12: 4,850,691 Y182* probably null Het
Zc3h13 A G 14: 75,293,976 T105A possibly damaging Het
Zfp933 T C 4: 147,828,711 K30R possibly damaging Het
Other mutations in Ahi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ahi1 APN 10 20972141 missense probably damaging 1.00
IGL00914:Ahi1 APN 10 20984299 splice site probably null
IGL01075:Ahi1 APN 10 20987025 missense possibly damaging 0.80
IGL01094:Ahi1 APN 10 20972060 missense probably damaging 0.99
IGL01128:Ahi1 APN 10 21074433 missense probably benign
IGL01527:Ahi1 APN 10 20960085 splice site probably benign
IGL01821:Ahi1 APN 10 21041243 critical splice donor site probably null
IGL02159:Ahi1 APN 10 21058177 missense probably benign 0.13
IGL02176:Ahi1 APN 10 20970916 missense probably benign 0.00
IGL02200:Ahi1 APN 10 20981314 splice site probably benign
IGL02232:Ahi1 APN 10 20981375 missense probably damaging 1.00
IGL02305:Ahi1 APN 10 20970897 missense probably benign 0.00
IGL02323:Ahi1 APN 10 20972034 missense probably damaging 1.00
IGL02885:Ahi1 APN 10 21055113 missense possibly damaging 0.61
IGL02958:Ahi1 APN 10 20963799 missense probably damaging 1.00
IGL02971:Ahi1 APN 10 21000551 missense possibly damaging 0.93
IGL03109:Ahi1 APN 10 20970942 missense probably benign 0.00
IGL03192:Ahi1 APN 10 20965635 missense probably benign 0.00
arisen UTSW 10 21007768 missense possibly damaging 0.53
urspringt UTSW 10 20984393 missense probably damaging 1.00
P4717OSA:Ahi1 UTSW 10 20972110 missense probably damaging 1.00
P4748:Ahi1 UTSW 10 20972110 missense probably damaging 1.00
R0448:Ahi1 UTSW 10 20972075 missense probably damaging 1.00
R0559:Ahi1 UTSW 10 21000719 splice site probably benign
R0627:Ahi1 UTSW 10 20965522 missense probably benign 0.10
R0652:Ahi1 UTSW 10 20979461 missense probably damaging 1.00
R0690:Ahi1 UTSW 10 20970843 splice site probably benign
R1209:Ahi1 UTSW 10 20963730 missense probably damaging 0.98
R1364:Ahi1 UTSW 10 20972156 missense probably damaging 0.97
R1510:Ahi1 UTSW 10 20959800 missense probably benign 0.00
R1634:Ahi1 UTSW 10 20965693 missense probably damaging 1.00
R1789:Ahi1 UTSW 10 20963115 missense probably benign 0.18
R1818:Ahi1 UTSW 10 20988562 missense probably damaging 1.00
R2069:Ahi1 UTSW 10 20959996 missense probably damaging 0.98
R2148:Ahi1 UTSW 10 20970976 missense possibly damaging 0.64
R2566:Ahi1 UTSW 10 20970911 nonsense probably null
R2850:Ahi1 UTSW 10 21000593 missense probably benign 0.07
R2862:Ahi1 UTSW 10 20981408 missense probably damaging 0.99
R3969:Ahi1 UTSW 10 20959947 missense probably damaging 1.00
R4430:Ahi1 UTSW 10 20972078 missense probably damaging 1.00
R4496:Ahi1 UTSW 10 20965545 missense probably benign 0.07
R4755:Ahi1 UTSW 10 21055047 missense possibly damaging 0.94
R4916:Ahi1 UTSW 10 20984404 missense probably damaging 1.00
R5216:Ahi1 UTSW 10 20960076 missense probably benign 0.00
R5223:Ahi1 UTSW 10 20970919 missense possibly damaging 0.79
R5224:Ahi1 UTSW 10 20987022 missense probably damaging 1.00
R5604:Ahi1 UTSW 10 20987005 missense probably damaging 1.00
R5665:Ahi1 UTSW 10 21055047 missense possibly damaging 0.94
R5704:Ahi1 UTSW 10 21074427 missense probably benign
R5769:Ahi1 UTSW 10 20960082 critical splice donor site probably null
R5899:Ahi1 UTSW 10 21000566 missense probably benign 0.06
R5936:Ahi1 UTSW 10 20965933 missense probably damaging 1.00
R5969:Ahi1 UTSW 10 20984393 missense probably damaging 1.00
R6066:Ahi1 UTSW 10 20959926 missense possibly damaging 0.84
R6122:Ahi1 UTSW 10 21058165 missense probably benign 0.26
R6135:Ahi1 UTSW 10 20969121 missense probably benign 0.01
R6240:Ahi1 UTSW 10 20977081 missense probably damaging 1.00
R6387:Ahi1 UTSW 10 20969043 missense probably damaging 1.00
R6395:Ahi1 UTSW 10 20979592 missense possibly damaging 0.49
R6406:Ahi1 UTSW 10 20977049 missense probably damaging 1.00
R6440:Ahi1 UTSW 10 20960082 critical splice donor site probably benign
R6558:Ahi1 UTSW 10 20963673 missense probably damaging 1.00
R6744:Ahi1 UTSW 10 20965567 missense probably damaging 1.00
R6755:Ahi1 UTSW 10 21017913 missense probably damaging 0.98
R6927:Ahi1 UTSW 10 21055069 missense probably damaging 1.00
R6932:Ahi1 UTSW 10 20963691 missense probably benign 0.02
R6967:Ahi1 UTSW 10 20988625 missense probably damaging 0.98
R7168:Ahi1 UTSW 10 21017932 missense probably benign 0.01
R7169:Ahi1 UTSW 10 21055019 missense probably damaging 1.00
R7327:Ahi1 UTSW 10 20987077 missense probably damaging 0.99
R7351:Ahi1 UTSW 10 20965933 missense probably damaging 1.00
R7489:Ahi1 UTSW 10 20963750 missense probably benign 0.35
R7680:Ahi1 UTSW 10 21007768 missense possibly damaging 0.53
R7878:Ahi1 UTSW 10 20981431 critical splice donor site probably null
R7999:Ahi1 UTSW 10 20965681 missense probably benign 0.31
R8219:Ahi1 UTSW 10 21074436 missense probably benign 0.00
R8248:Ahi1 UTSW 10 20972092 missense probably benign 0.04
R8560:Ahi1 UTSW 10 20959915 missense probably benign 0.04
X0024:Ahi1 UTSW 10 21000592 missense possibly damaging 0.69
Z1177:Ahi1 UTSW 10 21041007 intron probably benign
Posted On2016-08-02