Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02885:Ahi1'

362974

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 #

IGL02885

Quality Score

Status

Chromosome

Chromosomal Location

20828446-20956328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20931012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 46 (F46I)

Ref Sequence

ENSEMBL: ENSMUSP00000127043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105525] [ENSMUST00000163505] [ENSMUST00000213104]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000105525
AA Change: F951I

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: F951I

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

possibly damaging
Transcript: ENSMUST00000163505
AA Change: F46I

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127043
Gene: ENSMUSG00000019986
AA Change: F46I

Domain	Start	End	E-Value	Type
SH3	1	56	2.36e-18	SMART
low complexity region	70	84	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213104
AA Change: F951I

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213852

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,152 (GRCm39)	N683S	probably benign	Het
Als2	C	T	1: 59,206,650 (GRCm39)	V1598I	probably benign	Het
Arid1b	A	T	17: 5,392,428 (GRCm39)	D1986V	probably damaging	Het
Bhlhe41	T	A	6: 145,810,989 (GRCm39)	D2V	probably damaging	Het
Borcs6	A	G	11: 68,951,072 (GRCm39)	D150G	possibly damaging	Het
Ccdc88a	G	T	11: 29,398,050 (GRCm39)	R261L	probably damaging	Het
Ccne2	T	A	4: 11,198,723 (GRCm39)		probably benign	Het
Cenpk	A	G	13: 104,385,903 (GRCm39)	D266G	probably damaging	Het
Ces2b	T	C	8: 105,561,563 (GRCm39)	V219A	probably damaging	Het
Cpa1	A	G	6: 30,645,169 (GRCm39)	R382G	probably damaging	Het
Cplx4	G	T	18: 66,089,984 (GRCm39)	T145N	probably damaging	Het
Cyp19a1	T	C	9: 54,079,102 (GRCm39)	I269V	probably benign	Het
Dennd3	A	G	15: 73,440,545 (GRCm39)	Y1192C	probably benign	Het
Dpp6	T	C	5: 27,923,471 (GRCm39)	Y694H	probably damaging	Het
Eea1	C	A	10: 95,877,346 (GRCm39)	N1353K	probably benign	Het
Fam111a	T	A	19: 12,561,488 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,442,204 (GRCm39)	S1169P	probably benign	Het
Frk	G	T	10: 34,360,067 (GRCm39)	A23S	probably benign	Het
Fyb2	T	C	4: 104,861,118 (GRCm39)	V594A	probably damaging	Het
Gtpbp3	C	A	8: 71,942,064 (GRCm39)		probably benign	Het
Hoxa5	G	T	6: 52,179,688 (GRCm39)	A229D	probably damaging	Het
Ift25	G	A	4: 107,130,866 (GRCm39)	C52Y	possibly damaging	Het
Igf2r	A	T	17: 12,913,007 (GRCm39)	F1780L	possibly damaging	Het
Jade2	A	T	11: 51,722,123 (GRCm39)	D143E	probably damaging	Het
Kdm1a	T	C	4: 136,279,846 (GRCm39)	I719V	probably benign	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lmx1b	G	T	2: 33,457,216 (GRCm39)	Q206K	probably benign	Het
Lrrtm4	G	A	6: 79,998,786 (GRCm39)	G66D	probably damaging	Het
Myg1	G	T	15: 102,240,594 (GRCm39)	G90C	probably damaging	Het
Nbea	C	T	3: 55,539,407 (GRCm39)	V2785I	probably benign	Het
Ncr1	C	A	7: 4,341,225 (GRCm39)	P35Q	probably damaging	Het
Nos1	T	A	5: 118,033,855 (GRCm39)	C326S	probably damaging	Het
Or12j2	T	C	7: 139,916,072 (GRCm39)	F99S	possibly damaging	Het
Or3a1	G	T	11: 74,225,519 (GRCm39)	H179Q	possibly damaging	Het
Or52r1	A	T	7: 102,537,243 (GRCm39)	V39E	possibly damaging	Het
Pde4d	A	G	13: 110,084,795 (GRCm39)	Y520C	probably damaging	Het
Ppm1d	A	G	11: 85,217,770 (GRCm39)	M178V	possibly damaging	Het
Samd3	G	A	10: 26,147,762 (GRCm39)	R479K	probably benign	Het
Semp2l2b	T	A	10: 21,943,057 (GRCm39)	I308F	possibly damaging	Het
Serpinb6a	A	G	13: 34,102,782 (GRCm39)	V226A	probably benign	Het
Slc26a4	T	C	12: 31,575,475 (GRCm39)	E737G	probably benign	Het
Slc34a3	A	G	2: 25,121,069 (GRCm39)	C340R	probably damaging	Het
Spata31d1b	C	A	13: 59,866,941 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,013 (GRCm39)	V173A	probably benign	Het
Vmn2r66	A	T	7: 84,644,723 (GRCm39)	D562E	probably benign	Het
Zfp395	C	T	14: 65,633,344 (GRCm39)	P451L	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
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
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

2015-12-18