Mutagenetix > Incidental Mutation

Incidental Mutation 'R3969:Ahi1'

310885

Institutional Source

Beutler Lab

Gene Symbol

Ahi1

Ensembl Gene

ENSMUSG00000019986

Gene Name

Abelson helper integration site 1

Synonyms

Jouberin, Ahi-1, D10Bwg0629e, 1700015F03Rik

MMRRC Submission

040937-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R3969 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20828446-20956328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20835846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 60 (K60E)

Ref Sequence

ENSEMBL: ENSMUSP00000149010 (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: K60E

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

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: K60E

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: K60E

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

Meta Mutation Damage Score

0.1048

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

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
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Camk2d	G	T	3: 126,590,608 (GRCm39)	C273F	possibly damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Chia1	T	G	3: 106,028,951 (GRCm39)		probably null	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cpeb4	T	C	11: 31,822,811 (GRCm39)	I175T	possibly damaging	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Faap100	A	T	11: 120,269,531 (GRCm39)	M1K	probably null	Het
Flna	A	T	X: 73,279,273 (GRCm39)	V1253E	probably damaging	Het
Fryl	A	T	5: 73,269,766 (GRCm39)	S396R	probably damaging	Het
Gm12185	A	T	11: 48,798,172 (GRCm39)	C774S	probably benign	Het
Habp2	A	G	19: 56,300,133 (GRCm39)	Y194C	probably damaging	Het
Insyn2b	A	T	11: 34,369,739 (GRCm39)	Q481L	probably damaging	Het
Irf5	A	T	6: 29,536,781 (GRCm39)	Q497H	probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Lins1	C	T	7: 66,357,946 (GRCm39)	T27I	probably benign	Het
Ncstn	A	C	1: 171,897,576 (GRCm39)	V439G	probably damaging	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Nol8	A	T	13: 49,813,492 (GRCm39)	K162*	probably null	Het
Or7g21	A	G	9: 19,032,956 (GRCm39)	E232G	probably benign	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pole3	G	T	4: 62,443,198 (GRCm39)	N12K	possibly damaging	Het
Prl2a1	A	G	13: 27,990,263 (GRCm39)	S71G	probably benign	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Rb1cc1	T	A	1: 6,318,494 (GRCm39)		probably benign	Het
Shroom3	T	C	5: 93,088,738 (GRCm39)	V496A	probably benign	Het
Slc26a1	A	G	5: 108,821,818 (GRCm39)	S24P	probably benign	Het
Tspoap1	A	T	11: 87,653,272 (GRCm39)	N113Y	probably damaging	Het
Usp17lc	A	T	7: 103,067,626 (GRCm39)	H307L	probably damaging	Het
Vmn2r79	T	C	7: 86,652,801 (GRCm39)	W498R	probably damaging	Het
Vmn2r94	C	A	17: 18,478,647 (GRCm39)	Q33H	possibly damaging	Het
Wwc2	T	C	8: 48,309,358 (GRCm39)	D808G	unknown	Het
Ybx2	G	A	11: 69,831,242 (GRCm39)	R84Q	probably damaging	Het
Zfp462	C	T	4: 55,012,402 (GRCm39)	S308F	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGATCGCACAGGAAATG -3'
(R):5'- GTGAAGACCCTAGAGCACATCTG -3'

Sequencing Primer
(F):5'- TCGCACAGGAAATGGAGCC -3'
(R):5'- TGTGATAGGGTGAGGACACTTGAC -3'

Posted On

2015-04-29