Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Ahi1'

226959

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

040074-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20952547-21080429 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20959996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 76 (T76I)

Ref Sequence

ENSEMBL: ENSMUSP00000149010 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105525
AA Change: T76I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: T76I

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: T76I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 114,874,280	V86A	probably benign	Het
Abcc3	A	T	11: 94,364,417	I601N	probably damaging	Het
Abl2	T	A	1: 156,620,827		probably null	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Arhgap42	C	T	9: 9,035,600	G247D	probably damaging	Het
Arid2	C	T	15: 96,362,590	L407F	probably damaging	Het
Atp13a1	T	C	8: 69,799,773	F606L	probably benign	Het
Avl9	T	A	6: 56,736,435		probably benign	Het
B3glct	C	T	5: 149,709,380	A65V	probably damaging	Het
Bcorl1	T	C	X: 48,401,917		probably benign	Het
Bdp1	T	C	13: 100,050,988	T1624A	probably benign	Het
Bmp15	A	G	X: 6,316,021	M263T	probably benign	Het
Brd8	T	C	18: 34,614,479	K110E	probably damaging	Het
Cachd1	A	G	4: 100,990,844	D1052G	probably damaging	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Ccdc113	G	A	8: 95,557,296	E333K	probably benign	Het
Ccnl2	A	T	4: 155,812,481		probably null	Het
Ccr9	T	C	9: 123,779,364	F37S	probably benign	Het
Cdh7	A	T	1: 110,138,159	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,778,372	N104I	probably damaging	Het
Cenpk	T	A	13: 104,236,176		probably benign	Het
Cfi	A	G	3: 129,858,804		probably null	Het
Chd1	T	C	17: 15,742,294	F771S	probably damaging	Het
Chil4	G	A	3: 106,219,455	L4F	probably benign	Het
Cilp	G	A	9: 65,278,090	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,358,725	G402R	probably benign	Het
Coq8b	A	G	7: 27,257,377	E485G	probably damaging	Het
Cse1l	A	G	2: 166,941,492	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,388		probably null	Het
Dnmt3l	T	C	10: 78,052,732	V156A	probably damaging	Het
Duox1	A	T	2: 122,333,062	T792S	probably benign	Het
Duox2	T	C	2: 122,287,108	D915G	probably benign	Het
Efcab5	A	T	11: 77,172,321	M115K	probably benign	Het
Eif2s1	G	A	12: 78,877,185	D139N	probably benign	Het
Erg	A	G	16: 95,361,078	F390L	probably damaging	Het
Fam193b	A	T	13: 55,542,998	S650R	probably damaging	Het
Fbp2	T	A	13: 62,854,061	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,758,372	S496A	probably damaging	Het
Gab3	C	A	X: 75,000,095	R475L	probably damaging	Het
Gm7534	T	G	4: 134,201,941	N351T	possibly damaging	Het
Gsap	T	C	5: 21,226,839		probably benign	Het
Gucy1a2	C	T	9: 3,582,697	L160F	probably damaging	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Hrasls5	T	C	19: 7,612,638	S10P	possibly damaging	Het
Insc	G	T	7: 114,804,593		probably null	Het
Jph2	A	G	2: 163,339,685	S520P	possibly damaging	Het
Kidins220	T	A	12: 24,987,006		probably benign	Het
Krtap29-1	A	G	11: 99,978,612	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,793,733	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,950,027	F294S	probably damaging	Het
Map4k2	C	A	19: 6,342,738		probably benign	Het
Mboat2	T	C	12: 24,951,443	V281A	probably benign	Het
Mdga2	G	A	12: 66,568,917	R570*	probably null	Het
Mlxipl	A	G	5: 135,107,005	D28G	probably damaging	Het
Morc2b	T	C	17: 33,136,760	I679M	probably benign	Het
Myh4	T	C	11: 67,246,366		probably benign	Het
Nfib	A	C	4: 82,498,615	L61R	probably damaging	Het
Noc2l	C	A	4: 156,241,450	Y227*	probably null	Het
Nrde2	A	G	12: 100,142,232	S367P	probably damaging	Het
Nup93	C	A	8: 94,243,739	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1283	A	G	2: 111,369,095	I154M	probably benign	Het
Olfr6	A	T	7: 106,956,287	Y216*	probably null	Het
Olfr714	A	T	7: 107,074,619	K264*	probably null	Het
Olfr749	T	A	14: 50,736,576	E195D	possibly damaging	Het
Olfr824	A	G	10: 130,126,205	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,092,525	A319S	probably null	Het
P2ry10	A	G	X: 107,103,253	S265G	probably benign	Het
Peak1	A	T	9: 56,258,759	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,821,231	Q168L	probably benign	Het
Plec	A	G	15: 76,188,926	M604T	probably benign	Het
Pmfbp1	A	T	8: 109,532,103	N680I	possibly damaging	Het
Pnmal2	T	C	7: 16,945,789	W233R	probably damaging	Het
Pxn	A	G	5: 115,545,667	N186S	probably benign	Het
Rsad1	A	C	11: 94,549,125		probably benign	Het
Runx2	A	G	17: 44,735,342	I112T	probably benign	Het
S1pr2	A	T	9: 20,967,494	L346Q	probably damaging	Het
Skint6	A	G	4: 113,238,132	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,726,980	F234Y	probably damaging	Het
Slitrk2	T	A	X: 66,654,629	V242D	probably damaging	Het
Sp100	A	G	1: 85,681,142		probably null	Het
Spryd3	A	C	15: 102,118,181	L352V	probably benign	Het
Ssc4d	A	C	5: 135,970,317	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870	D83E	probably damaging	Het
Tlk2	A	T	11: 105,240,440	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,037,938	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,766,087	D1154E	unknown	Het
Trap1	A	G	16: 4,068,336	S86P	probably benign	Het
Trim32	T	A	4: 65,614,776	C523*	probably null	Het
Ttc38	G	T	15: 85,838,788	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,631,796	L131Q	probably damaging	Het
Ttn	T	C	2: 76,726,848		probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubash3b	G	A	9: 41,043,573	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,948,099	N367S	probably damaging	Het
Ubr4	T	A	4: 139,479,540	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,224,483	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,556,098	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 42,300,001	D615G	probably benign	Het
Wdr24	T	A	17: 25,826,282	D330E	probably damaging	Het
Zbbx	A	T	3: 75,078,412	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,792,328	Q757L	probably damaging	Het

Other mutations in Ahi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Ahi1	APN	10	20972141	missense	probably damaging	1.00
IGL00914:Ahi1	APN	10	20984299	splice site	probably null
IGL01075:Ahi1	APN	10	20987025	missense	possibly damaging	0.80
IGL01094:Ahi1	APN	10	20972060	missense	probably damaging	0.99
IGL01128:Ahi1	APN	10	21074433	missense	probably benign
IGL01527:Ahi1	APN	10	20960085	splice site	probably benign
IGL01821:Ahi1	APN	10	21041243	critical splice donor site	probably null
IGL02159:Ahi1	APN	10	21058177	missense	probably benign	0.13
IGL02176:Ahi1	APN	10	20970916	missense	probably benign	0.00
IGL02200:Ahi1	APN	10	20981314	splice site	probably benign
IGL02232:Ahi1	APN	10	20981375	missense	probably damaging	1.00
IGL02305:Ahi1	APN	10	20970897	missense	probably benign	0.00
IGL02323:Ahi1	APN	10	20972034	missense	probably damaging	1.00
IGL02885:Ahi1	APN	10	21055113	missense	possibly damaging	0.61
IGL02958:Ahi1	APN	10	20963799	missense	probably damaging	1.00
IGL02971:Ahi1	APN	10	21000551	missense	possibly damaging	0.93
IGL03109:Ahi1	APN	10	20970942	missense	probably benign	0.00
IGL03192:Ahi1	APN	10	20965635	missense	probably benign	0.00
IGL03377:Ahi1	APN	10	21018004	missense	possibly damaging	0.51
arisen	UTSW	10	21007768	missense	possibly damaging	0.53
urspringt	UTSW	10	20984393	missense	probably damaging	1.00
P4717OSA:Ahi1	UTSW	10	20972110	missense	probably damaging	1.00
P4748:Ahi1	UTSW	10	20972110	missense	probably damaging	1.00
R0448:Ahi1	UTSW	10	20972075	missense	probably damaging	1.00
R0559:Ahi1	UTSW	10	21000719	splice site	probably benign
R0627:Ahi1	UTSW	10	20965522	missense	probably benign	0.10
R0652:Ahi1	UTSW	10	20979461	missense	probably damaging	1.00
R0690:Ahi1	UTSW	10	20970843	splice site	probably benign
R1209:Ahi1	UTSW	10	20963730	missense	probably damaging	0.98
R1364:Ahi1	UTSW	10	20972156	missense	probably damaging	0.97
R1510:Ahi1	UTSW	10	20959800	missense	probably benign	0.00
R1634:Ahi1	UTSW	10	20965693	missense	probably damaging	1.00
R1789:Ahi1	UTSW	10	20963115	missense	probably benign	0.18
R1818:Ahi1	UTSW	10	20988562	missense	probably damaging	1.00
R2148:Ahi1	UTSW	10	20970976	missense	possibly damaging	0.64
R2566:Ahi1	UTSW	10	20970911	nonsense	probably null
R2850:Ahi1	UTSW	10	21000593	missense	probably benign	0.07
R2862:Ahi1	UTSW	10	20981408	missense	probably damaging	0.99
R3969:Ahi1	UTSW	10	20959947	missense	probably damaging	1.00
R4430:Ahi1	UTSW	10	20972078	missense	probably damaging	1.00
R4496:Ahi1	UTSW	10	20965545	missense	probably benign	0.07
R4755:Ahi1	UTSW	10	21055047	missense	possibly damaging	0.94
R4916:Ahi1	UTSW	10	20984404	missense	probably damaging	1.00
R5216:Ahi1	UTSW	10	20960076	missense	probably benign	0.00
R5223:Ahi1	UTSW	10	20970919	missense	possibly damaging	0.79
R5224:Ahi1	UTSW	10	20987022	missense	probably damaging	1.00
R5604:Ahi1	UTSW	10	20987005	missense	probably damaging	1.00
R5665:Ahi1	UTSW	10	21055047	missense	possibly damaging	0.94
R5704:Ahi1	UTSW	10	21074427	missense	probably benign
R5769:Ahi1	UTSW	10	20960082	critical splice donor site	probably null
R5899:Ahi1	UTSW	10	21000566	missense	probably benign	0.06
R5936:Ahi1	UTSW	10	20965933	missense	probably damaging	1.00
R5969:Ahi1	UTSW	10	20984393	missense	probably damaging	1.00
R6066:Ahi1	UTSW	10	20959926	missense	possibly damaging	0.84
R6122:Ahi1	UTSW	10	21058165	missense	probably benign	0.26
R6135:Ahi1	UTSW	10	20969121	missense	probably benign	0.01
R6240:Ahi1	UTSW	10	20977081	missense	probably damaging	1.00
R6387:Ahi1	UTSW	10	20969043	missense	probably damaging	1.00
R6395:Ahi1	UTSW	10	20979592	missense	possibly damaging	0.49
R6406:Ahi1	UTSW	10	20977049	missense	probably damaging	1.00
R6440:Ahi1	UTSW	10	20960082	critical splice donor site	probably benign
R6558:Ahi1	UTSW	10	20963673	missense	probably damaging	1.00
R6744:Ahi1	UTSW	10	20965567	missense	probably damaging	1.00
R6755:Ahi1	UTSW	10	21017913	missense	probably damaging	0.98
R6927:Ahi1	UTSW	10	21055069	missense	probably damaging	1.00
R6932:Ahi1	UTSW	10	20963691	missense	probably benign	0.02
R6967:Ahi1	UTSW	10	20988625	missense	probably damaging	0.98
R7168:Ahi1	UTSW	10	21017932	missense	probably benign	0.01
R7169:Ahi1	UTSW	10	21055019	missense	probably damaging	1.00
R7327:Ahi1	UTSW	10	20987077	missense	probably damaging	0.99
R7351:Ahi1	UTSW	10	20965933	missense	probably damaging	1.00
R7489:Ahi1	UTSW	10	20963750	missense	probably benign	0.35
R7680:Ahi1	UTSW	10	21007768	missense	possibly damaging	0.53
R7878:Ahi1	UTSW	10	20981431	critical splice donor site	probably null
R7999:Ahi1	UTSW	10	20965681	missense	probably benign	0.31
R8219:Ahi1	UTSW	10	21074436	missense	probably benign	0.00
R8248:Ahi1	UTSW	10	20972092	missense	probably benign	0.04
R8560:Ahi1	UTSW	10	20959915	missense	probably benign	0.04
R8926:Ahi1	UTSW	10	21055083	missense	probably damaging	1.00
R8965:Ahi1	UTSW	10	20963862	missense	probably benign
R8987:Ahi1	UTSW	10	20963784	missense	probably damaging	1.00
R9013:Ahi1	UTSW	10	21007759	missense	probably benign	0.28
R9145:Ahi1	UTSW	10	21000589	missense	probably benign	0.01
R9365:Ahi1	UTSW	10	20972136	missense	probably damaging	0.99
R9567:Ahi1	UTSW	10	20981401	missense	possibly damaging	0.95
X0024:Ahi1	UTSW	10	21000592	missense	possibly damaging	0.69
Z1177:Ahi1	UTSW	10	21041007	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCCCGACAGCAGATGATTC -3'
(R):5'- TGTCGATGTGAAGACACTAGAG -3'

Sequencing Primer
(F):5'- CCCGACAGCAGATGATTCAGATG -3'
(R):5'- TGTCGATGTGAAGACACTAGAG -3'

Posted On

2014-09-17