Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00914:Ahi1'

28321

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ahi1

Ensembl Gene

ENSMUSG00000019986

Gene Name

Abelson helper integration site 1

Synonyms

Jouberin, Ahi-1, D10Bwg0629e, 1700015F03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

IGL00914

Quality Score

Status

Chromosome

Chromosomal Location

20828446-20956328 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 20860198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101164 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,922,373 (GRCm39)	D112G	probably damaging	Het
Casz1	G	A	4: 149,013,828 (GRCm39)	E131K	probably damaging	Het
Chrna4	A	G	2: 180,670,824 (GRCm39)	Y311H	probably damaging	Het
Cyp2d34	G	T	15: 82,504,915 (GRCm39)	N48K	probably damaging	Het
Dnajc13	T	A	9: 104,090,081 (GRCm39)	K696I	possibly damaging	Het
Dync2i1	A	G	12: 116,196,223 (GRCm39)	V508A	probably damaging	Het
Fbxo30	T	C	10: 11,166,283 (GRCm39)	V335A	probably benign	Het
Itga5	A	G	15: 103,258,799 (GRCm39)		probably null	Het
Morc2a	G	A	11: 3,618,844 (GRCm39)		probably null	Het
Nek8	T	C	11: 78,063,901 (GRCm39)	I35V	possibly damaging	Het
Or5b101	A	G	19: 13,004,955 (GRCm39)	V246A	probably damaging	Het
Or8c15	A	G	9: 38,121,095 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,505,151 (GRCm39)		probably benign	Het
Sec23b	T	G	2: 144,408,784 (GRCm39)	S156R	probably damaging	Het
Shc3	T	A	13: 51,634,263 (GRCm39)		probably benign	Het
Sntg2	A	G	12: 30,307,956 (GRCm39)		probably benign	Het
Srms	T	A	2: 180,849,565 (GRCm39)	M280L	probably benign	Het

Other mutations in Ahi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ahi1	APN	10	20,848,040 (GRCm39)	missense	probably damaging	1.00
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
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

Posted On

2013-04-17