Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02323:Ahi1'

288338

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: 0.866) question?

Stock #

IGL02323

Quality Score

Status

Chromosome

Chromosomal Location

20828446-20956328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20847933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 447 (I447T)

Ref Sequence

ENSEMBL: ENSMUSP00000101164 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000105525
AA Change: I447T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: I447T

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 damaging
Transcript: ENSMUST00000213104
AA Change: I447T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	A	G	5: 137,289,326 (GRCm39)	E344G	probably damaging	Het
Actrt2	T	C	4: 154,751,255 (GRCm39)	T294A	probably benign	Het
Afg1l	C	A	10: 42,330,506 (GRCm39)	E54*	probably null	Het
Akap6	T	C	12: 53,187,212 (GRCm39)	I1542T	probably benign	Het
Ankrd34c	A	C	9: 89,612,033 (GRCm39)	S103A	possibly damaging	Het
Apc	C	T	18: 34,448,863 (GRCm39)	Q1886*	probably null	Het
Bcas3	A	G	11: 85,386,671 (GRCm39)	T148A	probably damaging	Het
Bud13	A	G	9: 46,194,350 (GRCm39)	T8A	probably benign	Het
Casr	A	T	16: 36,330,072 (GRCm39)	Y421N	probably damaging	Het
Ccdc121rt2	A	G	5: 112,597,600 (GRCm39)	Y49C	probably benign	Het
Clasp2	T	C	9: 113,697,794 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,619,082 (GRCm39)	T686A	probably benign	Het
Cntln	T	A	4: 84,968,026 (GRCm39)	H748Q	probably benign	Het
Dmtf1	A	T	5: 9,170,056 (GRCm39)	D683E	possibly damaging	Het
Dnmt3l	A	G	10: 77,899,152 (GRCm39)	K117R	probably damaging	Het
Eif2a	T	C	3: 58,456,024 (GRCm39)	M341T	possibly damaging	Het
Epg5	T	A	18: 78,056,047 (GRCm39)	Y1740*	probably null	Het
Fam149b	C	T	14: 20,413,369 (GRCm39)	T157I	possibly damaging	Het
Fam89b	A	G	19: 5,778,899 (GRCm39)		probably null	Het
Fbxo3	T	A	2: 103,878,296 (GRCm39)	N232K	probably benign	Het
Gnl3	A	C	14: 30,739,359 (GRCm39)	H16Q	probably damaging	Het
Gpld1	T	G	13: 25,166,757 (GRCm39)	V669G	probably damaging	Het
Grik3	A	G	4: 125,579,783 (GRCm39)		probably benign	Het
Gzmg	A	C	14: 56,394,729 (GRCm39)	Y180D	probably benign	Het
H2-M9	A	T	17: 36,951,633 (GRCm39)	Y281N	probably damaging	Het
Katnip	T	A	7: 125,442,001 (GRCm39)	S637T	probably benign	Het
Mical1	G	A	10: 41,362,660 (GRCm39)	E932K	possibly damaging	Het
Mrs2	T	A	13: 25,188,940 (GRCm39)	I125F	probably damaging	Het
Nfam1	T	A	15: 82,907,152 (GRCm39)	N15I	probably benign	Het
Nol8	T	A	13: 49,808,721 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,899,348 (GRCm39)	V6483A	possibly damaging	Het
Or2a56	A	T	6: 42,932,917 (GRCm39)	I162F	probably benign	Het
Osbpl3	A	G	6: 50,323,306 (GRCm39)		probably null	Het
Plaat3	G	A	19: 7,552,357 (GRCm39)	W24*	probably null	Het
Ppfibp2	A	T	7: 107,337,836 (GRCm39)	Q652H	probably damaging	Het
Rbm47	A	G	5: 66,183,772 (GRCm39)	V277A	probably damaging	Het
Robo3	G	A	9: 37,333,497 (GRCm39)	A716V	probably benign	Het
Scart1	G	T	7: 139,808,572 (GRCm39)	A828S	probably benign	Het
Semp2l1	A	T	1: 32,584,785 (GRCm39)	L375*	probably null	Het
Slc29a4	A	G	5: 142,703,407 (GRCm39)	E227G	probably damaging	Het
Slf1	T	C	13: 77,199,413 (GRCm39)	D656G	possibly damaging	Het
Sox1	A	G	8: 12,446,692 (GRCm39)	H111R	possibly damaging	Het
Spmip9	A	G	6: 70,890,679 (GRCm39)		probably benign	Het
Svep1	G	A	4: 58,070,236 (GRCm39)	Q2517*	probably null	Het
Syndig1	G	T	2: 149,741,707 (GRCm39)	V98L	probably benign	Het
Synpo2	T	C	3: 122,911,183 (GRCm39)	E154G	probably benign	Het
Tkt	G	A	14: 30,292,992 (GRCm39)	G490S	possibly damaging	Het
Tmem200a	T	C	10: 25,869,328 (GRCm39)	N314D	probably benign	Het
Tnfaip8l1	A	T	17: 56,479,009 (GRCm39)	T100S	probably damaging	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trim12c	C	T	7: 103,997,473 (GRCm39)	A28T	probably benign	Het
Trpc7	C	A	13: 56,931,564 (GRCm39)	V595L	possibly damaging	Het
Ttc39c	A	G	18: 12,869,800 (GRCm39)	R575G	probably null	Het
Ttn	T	G	2: 76,681,919 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,553,609 (GRCm39)	V31003M	probably damaging	Het
Ugt2b37	A	T	5: 87,398,423 (GRCm39)		probably benign	Het
Uqcrb	A	T	13: 67,050,874 (GRCm39)		probably benign	Het
Usp33	T	A	3: 152,076,024 (GRCm39)	W415R	probably benign	Het
Vmn2r110	A	T	17: 20,816,399 (GRCm39)	D41E	probably damaging	Het
Vmn2r98	A	T	17: 19,286,113 (GRCm39)	I204F	probably damaging	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
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
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

2015-04-16