Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Ahi1'

357931

Institutional Source

Beutler Lab

Gene Symbol

Ahi1

Ensembl Gene

ENSMUSG00000019986

Gene Name

Abelson helper integration site 1

Synonyms

1700015F03Rik, Jouberin, D10Bwg0629e, Ahi-1

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20952547-21080429 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21055047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 929 (I929V)

Ref Sequence

ENSEMBL: ENSMUSP00000149010 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105525
AA Change: I929V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: I929V

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: ENSMUST00000163505
AA Change: I24V

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127043
Gene: ENSMUSG00000019986
AA Change: I24V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213104
AA Change: I929V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214893

Meta Mutation Damage Score

0.1331

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859 (GRCm38)		noncoding transcript	Het
Accs	T	C	2: 93,841,337 (GRCm38)	E236G	probably damaging	Het
Agrn	C	T	4: 156,173,522 (GRCm38)		probably benign	Het
Akap5	C	A	12: 76,327,807 (GRCm38)	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480 (GRCm38)	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974 (GRCm38)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166 (GRCm38)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694 (GRCm38)	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987 (GRCm38)		probably null	Het
C130079G13Rik	C	T	3: 59,936,314 (GRCm38)	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922 (GRCm38)	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151 (GRCm38)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425 (GRCm38)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,249,512 (GRCm38)	H305L	probably benign	Het
Cenpk	A	T	13: 104,230,871 (GRCm38)	M37L	probably benign	Het
Ces5a	C	A	8: 93,535,677 (GRCm38)	A11S	probably benign	Het
Cfap65	T	C	1: 74,928,361 (GRCm38)	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808 (GRCm38)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673 (GRCm38)	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406 (GRCm38)		probably null	Het
Col4a4	T	C	1: 82,541,174 (GRCm38)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506 (GRCm38)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745 (GRCm38)	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269 (GRCm38)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799 (GRCm38)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016 (GRCm38)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342 (GRCm38)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496 (GRCm38)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211 (GRCm38)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483 (GRCm38)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805 (GRCm38)	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799 (GRCm38)	T6A	possibly damaging	Het
Fry	A	C	5: 150,398,254 (GRCm38)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,429,367 (GRCm38)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244 (GRCm38)	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786 (GRCm38)		probably null	Het
Gpld1	A	T	13: 24,979,688 (GRCm38)	Y43F	probably benign	Het
Gpld1	T	A	13: 24,979,692 (GRCm38)	Y44*	probably null	Het
Grid2	A	G	6: 63,908,988 (GRCm38)	T123A	probably benign	Het
Grina	T	C	15: 76,249,242 (GRCm38)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795 (GRCm38)	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945 (GRCm38)	K319*	probably null	Het
Hey2	A	T	10: 30,834,304 (GRCm38)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558 (GRCm38)	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782 (GRCm38)	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021 (GRCm38)	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157 (GRCm38)	Y463H	probably damaging	Het
Lrp1b	T	A	2: 41,471,016 (GRCm38)	T592S	probably benign	Het
Lrp1b	T	C	2: 41,269,273 (GRCm38)	I1666V	probably benign	Het
Lrrc36	A	G	8: 105,452,144 (GRCm38)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238 (GRCm38)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843 (GRCm38)	C32W	probably damaging	Het
March10	C	T	11: 105,364,476 (GRCm38)		probably benign	Het
Mier2	A	T	10: 79,549,197 (GRCm38)	M119K	probably damaging	Het
Mpv17	A	T	5: 31,145,982 (GRCm38)	C59*	probably null	Het
Mrpl27	G	A	11: 94,653,833 (GRCm38)		probably benign	Het
Myo18b	G	A	5: 112,874,474 (GRCm38)	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688 (GRCm38)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913 (GRCm38)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739 (GRCm38)	A513E	probably benign	Het
Neb	T	C	2: 52,220,209 (GRCm38)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287 (GRCm38)	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440 (GRCm38)	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043 (GRCm38)	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061 (GRCm38)	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180 (GRCm38)	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832 (GRCm38)	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348 (GRCm38)	R4278S	unknown	Het
Pcnx	T	G	12: 81,950,294 (GRCm38)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,189,385 (GRCm38)	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790 (GRCm38)		probably benign	Het
Ralgapa1	A	G	12: 55,712,748 (GRCm38)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917 (GRCm38)	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406 (GRCm38)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723 (GRCm38)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070 (GRCm38)	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352 (GRCm38)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531 (GRCm38)	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386 (GRCm38)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794 (GRCm38)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666 (GRCm38)		probably benign	Het
Slc4a10	T	A	2: 62,296,988 (GRCm38)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564 (GRCm38)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,325,049 (GRCm38)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,654,483 (GRCm38)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099 (GRCm38)	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756 (GRCm38)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634 (GRCm38)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215 (GRCm38)		probably benign	Het
Strn3	T	A	12: 51,610,216 (GRCm38)	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986 (GRCm38)	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264 (GRCm38)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212 (GRCm38)	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116 (GRCm38)	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061 (GRCm38)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780 (GRCm38)		probably benign	Het
Tril	T	A	6: 53,818,464 (GRCm38)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606 (GRCm38)	R179*	probably null	Het
Tspoap1	A	T	11: 87,771,663 (GRCm38)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,846,906 (GRCm38)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292 (GRCm38)	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397 (GRCm38)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026 (GRCm38)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700 (GRCm38)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852 (GRCm38)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470 (GRCm38)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181 (GRCm38)	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386 (GRCm38)	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639 (GRCm38)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505 (GRCm38)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793 (GRCm38)	F602I	probably damaging	Het

Other mutations in Ahi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ahi1	APN	10	20,972,141 (GRCm38)	missense	probably damaging	1.00
IGL00914:Ahi1	APN	10	20,984,299 (GRCm38)	splice site	probably null
IGL01075:Ahi1	APN	10	20,987,025 (GRCm38)	missense	possibly damaging	0.80
IGL01094:Ahi1	APN	10	20,972,060 (GRCm38)	missense	probably damaging	0.99
IGL01128:Ahi1	APN	10	21,074,433 (GRCm38)	missense	probably benign
IGL01527:Ahi1	APN	10	20,960,085 (GRCm38)	splice site	probably benign
IGL01821:Ahi1	APN	10	21,041,243 (GRCm38)	critical splice donor site	probably null
IGL02159:Ahi1	APN	10	21,058,177 (GRCm38)	missense	probably benign	0.13
IGL02176:Ahi1	APN	10	20,970,916 (GRCm38)	missense	probably benign	0.00
IGL02200:Ahi1	APN	10	20,981,314 (GRCm38)	splice site	probably benign
IGL02232:Ahi1	APN	10	20,981,375 (GRCm38)	missense	probably damaging	1.00
IGL02305:Ahi1	APN	10	20,970,897 (GRCm38)	missense	probably benign	0.00
IGL02323:Ahi1	APN	10	20,972,034 (GRCm38)	missense	probably damaging	1.00
IGL02885:Ahi1	APN	10	21,055,113 (GRCm38)	missense	possibly damaging	0.61
IGL02958:Ahi1	APN	10	20,963,799 (GRCm38)	missense	probably damaging	1.00
IGL02971:Ahi1	APN	10	21,000,551 (GRCm38)	missense	possibly damaging	0.93
IGL03109:Ahi1	APN	10	20,970,942 (GRCm38)	missense	probably benign	0.00
IGL03192:Ahi1	APN	10	20,965,635 (GRCm38)	missense	probably benign	0.00
IGL03377:Ahi1	APN	10	21,018,004 (GRCm38)	missense	possibly damaging	0.51
arisen	UTSW	10	21,007,768 (GRCm38)	missense	possibly damaging	0.53
urspringt	UTSW	10	20,984,393 (GRCm38)	missense	probably damaging	1.00
P4717OSA:Ahi1	UTSW	10	20,972,110 (GRCm38)	missense	probably damaging	1.00
P4748:Ahi1	UTSW	10	20,972,110 (GRCm38)	missense	probably damaging	1.00
R0448:Ahi1	UTSW	10	20,972,075 (GRCm38)	missense	probably damaging	1.00
R0559:Ahi1	UTSW	10	21,000,719 (GRCm38)	splice site	probably benign
R0627:Ahi1	UTSW	10	20,965,522 (GRCm38)	missense	probably benign	0.10
R0652:Ahi1	UTSW	10	20,979,461 (GRCm38)	missense	probably damaging	1.00
R0690:Ahi1	UTSW	10	20,970,843 (GRCm38)	splice site	probably benign
R1209:Ahi1	UTSW	10	20,963,730 (GRCm38)	missense	probably damaging	0.98
R1364:Ahi1	UTSW	10	20,972,156 (GRCm38)	missense	probably damaging	0.97
R1510:Ahi1	UTSW	10	20,959,800 (GRCm38)	missense	probably benign	0.00
R1634:Ahi1	UTSW	10	20,965,693 (GRCm38)	missense	probably damaging	1.00
R1789:Ahi1	UTSW	10	20,963,115 (GRCm38)	missense	probably benign	0.18
R1818:Ahi1	UTSW	10	20,988,562 (GRCm38)	missense	probably damaging	1.00
R2069:Ahi1	UTSW	10	20,959,996 (GRCm38)	missense	probably damaging	0.98
R2148:Ahi1	UTSW	10	20,970,976 (GRCm38)	missense	possibly damaging	0.64
R2566:Ahi1	UTSW	10	20,970,911 (GRCm38)	nonsense	probably null
R2850:Ahi1	UTSW	10	21,000,593 (GRCm38)	missense	probably benign	0.07
R2862:Ahi1	UTSW	10	20,981,408 (GRCm38)	missense	probably damaging	0.99
R3969:Ahi1	UTSW	10	20,959,947 (GRCm38)	missense	probably damaging	1.00
R4430:Ahi1	UTSW	10	20,972,078 (GRCm38)	missense	probably damaging	1.00
R4496:Ahi1	UTSW	10	20,965,545 (GRCm38)	missense	probably benign	0.07
R4916:Ahi1	UTSW	10	20,984,404 (GRCm38)	missense	probably damaging	1.00
R5216:Ahi1	UTSW	10	20,960,076 (GRCm38)	missense	probably benign	0.00
R5223:Ahi1	UTSW	10	20,970,919 (GRCm38)	missense	possibly damaging	0.79
R5224:Ahi1	UTSW	10	20,987,022 (GRCm38)	missense	probably damaging	1.00
R5604:Ahi1	UTSW	10	20,987,005 (GRCm38)	missense	probably damaging	1.00
R5665:Ahi1	UTSW	10	21,055,047 (GRCm38)	missense	possibly damaging	0.94
R5704:Ahi1	UTSW	10	21,074,427 (GRCm38)	missense	probably benign
R5769:Ahi1	UTSW	10	20,960,082 (GRCm38)	critical splice donor site	probably null
R5899:Ahi1	UTSW	10	21,000,566 (GRCm38)	missense	probably benign	0.06
R5936:Ahi1	UTSW	10	20,965,933 (GRCm38)	missense	probably damaging	1.00
R5969:Ahi1	UTSW	10	20,984,393 (GRCm38)	missense	probably damaging	1.00
R6066:Ahi1	UTSW	10	20,959,926 (GRCm38)	missense	possibly damaging	0.84
R6122:Ahi1	UTSW	10	21,058,165 (GRCm38)	missense	probably benign	0.26
R6135:Ahi1	UTSW	10	20,969,121 (GRCm38)	missense	probably benign	0.01
R6240:Ahi1	UTSW	10	20,977,081 (GRCm38)	missense	probably damaging	1.00
R6387:Ahi1	UTSW	10	20,969,043 (GRCm38)	missense	probably damaging	1.00
R6395:Ahi1	UTSW	10	20,979,592 (GRCm38)	missense	possibly damaging	0.49
R6406:Ahi1	UTSW	10	20,977,049 (GRCm38)	missense	probably damaging	1.00
R6440:Ahi1	UTSW	10	20,960,082 (GRCm38)	critical splice donor site	probably benign
R6558:Ahi1	UTSW	10	20,963,673 (GRCm38)	missense	probably damaging	1.00
R6744:Ahi1	UTSW	10	20,965,567 (GRCm38)	missense	probably damaging	1.00
R6755:Ahi1	UTSW	10	21,017,913 (GRCm38)	missense	probably damaging	0.98
R6927:Ahi1	UTSW	10	21,055,069 (GRCm38)	missense	probably damaging	1.00
R6932:Ahi1	UTSW	10	20,963,691 (GRCm38)	missense	probably benign	0.02
R6967:Ahi1	UTSW	10	20,988,625 (GRCm38)	missense	probably damaging	0.98
R7168:Ahi1	UTSW	10	21,017,932 (GRCm38)	missense	probably benign	0.01
R7169:Ahi1	UTSW	10	21,055,019 (GRCm38)	missense	probably damaging	1.00
R7327:Ahi1	UTSW	10	20,987,077 (GRCm38)	missense	probably damaging	0.99
R7351:Ahi1	UTSW	10	20,965,933 (GRCm38)	missense	probably damaging	1.00
R7489:Ahi1	UTSW	10	20,963,750 (GRCm38)	missense	probably benign	0.35
R7680:Ahi1	UTSW	10	21,007,768 (GRCm38)	missense	possibly damaging	0.53
R7878:Ahi1	UTSW	10	20,981,431 (GRCm38)	critical splice donor site	probably null
R7999:Ahi1	UTSW	10	20,965,681 (GRCm38)	missense	probably benign	0.31
R8219:Ahi1	UTSW	10	21,074,436 (GRCm38)	missense	probably benign	0.00
R8248:Ahi1	UTSW	10	20,972,092 (GRCm38)	missense	probably benign	0.04
R8560:Ahi1	UTSW	10	20,959,915 (GRCm38)	missense	probably benign	0.04
R8926:Ahi1	UTSW	10	21,055,083 (GRCm38)	missense	probably damaging	1.00
R8965:Ahi1	UTSW	10	20,963,862 (GRCm38)	missense	probably benign
R8987:Ahi1	UTSW	10	20,963,784 (GRCm38)	missense	probably damaging	1.00
R9013:Ahi1	UTSW	10	21,007,759 (GRCm38)	missense	probably benign	0.28
R9145:Ahi1	UTSW	10	21,000,589 (GRCm38)	missense	probably benign	0.01
R9365:Ahi1	UTSW	10	20,972,136 (GRCm38)	missense	probably damaging	0.99
R9567:Ahi1	UTSW	10	20,981,401 (GRCm38)	missense	possibly damaging	0.95
X0024:Ahi1	UTSW	10	21,000,592 (GRCm38)	missense	possibly damaging	0.69
Z1177:Ahi1	UTSW	10	21,041,007 (GRCm38)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCCTGCTTTGGTTTCAGC -3'
(R):5'- CTGGCATACTAGTGCATCGC -3'

Sequencing Primer
(F):5'- GGTTTCAGCTGCTCTTCTGCAAG -3'
(R):5'- GCATACTAGTGCATCGCCTTTTCAG -3'

Posted On

2015-11-11