Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01527:Ahi1'

89624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ahi1

Ensembl Gene

ENSMUSG00000019986

Gene Name

Abelson helper integration site 1

Synonyms

1700015F03Rik, Jouberin, D10Bwg0629e, Ahi-1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.875) question?

Stock #

IGL01527

Quality Score

Status

Chromosome

Chromosomal Location

20952547-21080429 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 20960085 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105525] [ENSMUST00000213104]

Predicted Effect

probably benign
Transcript: ENSMUST00000105525

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986

Domain	Start	End	E-Value	Type
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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	T	17: 35,567,833		probably null	Het
Abca13	T	A	11: 9,290,788	W884R	possibly damaging	Het
Ankfn1	G	T	11: 89,391,639	P394Q	probably benign	Het
AW549877	T	C	15: 3,988,683	Y170C	probably damaging	Het
Cacnb2	T	C	2: 14,984,270	I393T	possibly damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Col22a1	T	C	15: 71,907,031	E269G	probably damaging	Het
Cyp24a1	A	G	2: 170,496,566	L70P	probably damaging	Het
Cyp8b1	T	C	9: 121,914,995	K424E	probably damaging	Het
Dicer1	G	A	12: 104,691,610	Q1902*	probably null	Het
Dst	T	A	1: 34,247,653	L544Q	probably damaging	Het
Esrp2	T	C	8: 106,132,233	T591A	probably benign	Het
Gap43	C	T	16: 42,292,153	E82K	probably benign	Het
Kif17	G	A	4: 138,269,086	V125I	probably benign	Het
Lancl2	T	C	6: 57,732,322	S370P	probably damaging	Het
Macf1	T	C	4: 123,493,160	I203V	possibly damaging	Het
Mphosph9	A	G	5: 124,283,624		probably benign	Het
Ncapg	A	G	5: 45,672,384	I143V	possibly damaging	Het
Nr3c1	A	G	18: 39,486,637	V199A	probably benign	Het
Obscn	T	A	11: 59,064,417	N3890I	possibly damaging	Het
Olfr130	A	G	17: 38,068,095	N308S	probably benign	Het
Olfr669	T	A	7: 104,938,991	V155E	possibly damaging	Het
Olfr92	A	T	17: 37,111,809	Y58N	probably damaging	Het
Olfr951	A	G	9: 39,393,818	H6R	probably benign	Het
Palmd	C	A	3: 116,927,188	E166*	probably null	Het
Pdzd2	T	C	15: 12,445,664	E327G	probably damaging	Het
Pex13	T	C	11: 23,656,111	T40A	probably benign	Het
Pkd2	T	C	5: 104,498,884		probably benign	Het
Plb1	A	G	5: 32,317,123	T643A	probably damaging	Het
Prlr	T	A	15: 10,329,171	D577E	probably benign	Het
Slc44a3	A	G	3: 121,527,128	C75R	probably damaging	Het
Susd6	A	T	12: 80,874,319	N230I	possibly damaging	Het
Tbx10	A	G	19: 3,998,227	R251G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,516	I408V	probably benign	Het
Uap1l1	A	G	2: 25,363,804		probably null	Het
Ugt2b5	A	G	5: 87,136,209	V308A	possibly damaging	Het
Usp28	C	A	9: 49,025,873	H147Q	probably benign	Het
Vmn1r203	T	C	13: 22,524,277	I76T	possibly damaging	Het
Vmn2r104	A	G	17: 20,042,896	I101T	possibly damaging	Het
Vmn2r17	T	A	5: 109,453,140	L768H	probably damaging	Het

Other mutations in Ahi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
IGL03377:Ahi1	APN	10	21018004	missense	possibly damaging	0.51
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
R8926:Ahi1	UTSW	10	21055083	missense	probably damaging	1.00
R8965:Ahi1	UTSW	10	20963862	missense	probably benign
R8987:Ahi1	UTSW	10	20963784	missense	probably damaging	1.00
R9013:Ahi1	UTSW	10	21007759	missense	probably benign	0.28
X0024:Ahi1	UTSW	10	21000592	missense	possibly damaging	0.69
Z1177:Ahi1	UTSW	10	21041007	intron	probably benign

Posted On

2013-12-03