Mutagenetix > Incidental Mutations

Incidental Mutation 'R8219:Ahi1'

636564

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.809) question?

Stock #

R8219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20952547-21080429 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21074436 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1034 (K1034E)

Ref Sequence

ENSEMBL: ENSMUSP00000101164 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105525
AA Change: K1034E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: K1034E

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: K129E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000127043
Gene: ENSMUSG00000019986
AA Change: K129E

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (62/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,942,536	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748	I278F	probably benign	Het
Adgrf5	A	T	17: 43,449,859	Q815L	probably benign	Het
Aff1	T	A	5: 103,846,333	Y1022N	probably damaging	Het
Ano8	A	T	8: 71,480,713	L645Q	unknown	Het
Atg9b	A	G	5: 24,386,332	L756P	probably damaging	Het
Atp2b2	A	T	6: 113,793,850	I411N	probably damaging	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bmp6	T	A	13: 38,345,987	C19S	unknown	Het
Borcs5	A	G	6: 134,644,350	H27R	probably benign	Het
C77080	T	A	4: 129,248,153	D65V	possibly damaging	Het
Cachd1	C	A	4: 100,990,962	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,793,345	M801L	probably benign	Het
Clcn3	A	T	8: 60,922,966	M658K	probably damaging	Het
Col1a1	C	T	11: 94,943,358	R500C	probably damaging	Het
Cul4a	T	A	8: 13,146,540	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
E2f7	T	A	10: 110,759,843	V133E	probably damaging	Het
Fam161b	T	C	12: 84,346,874	E575G	probably benign	Het
Fubp1	T	A	3: 152,220,466	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,774,300	R367*	probably null	Het
Gm6902	G	A	7: 23,273,718	A128V	probably benign	Het
Gnptab	A	G	10: 88,433,792	T786A	probably benign	Het
Golga2	A	G	2: 32,306,480	N981D	probably damaging	Het
Gsap	A	T	5: 21,251,115	I437L	probably benign	Het
Gulp1	A	G	1: 44,754,341		probably null	Het
Kcnn1	T	C	8: 70,852,855	Y237C	probably damaging	Het
Klhl28	A	T	12: 64,951,657	N354K	probably benign	Het
Lama3	T	C	18: 12,439,360	Y541H	probably benign	Het
Lamc1	A	G	1: 153,247,327	Y706H	probably damaging	Het
Lima1	G	T	15: 99,780,790	T590K	probably damaging	Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Mrgprb8	G	A	7: 48,388,901	V107M	possibly damaging	Het
Mrpl3	T	A	9: 105,057,072	N139K	possibly damaging	Het
Nudt16	T	A	9: 105,130,437	N161I	probably damaging	Het
Obscn	G	A	11: 59,122,748	S1091L	probably benign	Het
Olfr1458	A	C	19: 13,102,920	L122R	probably damaging	Het
Olfr894	A	C	9: 38,219,372	D183A	probably damaging	Het
Oog4	T	C	4: 143,439,938	M99V	probably benign	Het
Osbpl6	A	T	2: 76,555,903	D303V	probably damaging	Het
Pcdhb21	T	C	18: 37,514,655	F279S	probably damaging	Het
Peg3	G	A	7: 6,708,365	T1286I	probably benign	Het
Phax	A	G	18: 56,575,682	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,821,292	Y148H	probably damaging	Het
Ptprn2	C	A	12: 117,184,737	Q706K	probably benign	Het
Rdh11	T	G	12: 79,189,106	K23Q	probably benign	Het
Rit2	T	A	18: 30,975,494	E146V	probably damaging	Het
Rnf141	T	C	7: 110,837,265		probably benign	Het
Sars	T	A	3: 108,445,062	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,011,861	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,335,324	P92Q	probably benign	Het
Slc24a5	A	T	2: 125,085,655		probably null	Het
Slc5a8	A	G	10: 88,921,699	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,912,163	M148V	probably benign	Het
Sorl1	T	C	9: 42,041,561		probably null	Het
Tgm4	A	T	9: 123,045,052	Y119F	probably benign	Het
Tgm6	A	G	2: 130,151,280	K562R	probably benign	Het
Tlr3	T	C	8: 45,397,979	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,530,019	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,625,771	H293R	probably benign	Het
Trank1	A	C	9: 111,364,909	K667T	probably damaging	Het
Trpm1	A	T	7: 64,201,951	Q139L	probably benign	Het
Ttf2	T	G	3: 100,962,563	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150	M213K	probably benign	Het
Zmym2	T	A	14: 56,925,859	S623T	probably benign	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
R2069:Ahi1	UTSW	10	20959996	missense	probably damaging	0.98
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
R8248:Ahi1	UTSW	10	20972092	missense	probably benign	0.04
R8560:Ahi1	UTSW	10	20959915	missense	probably benign	0.04
X0024:Ahi1	UTSW	10	21000592	missense	possibly damaging	0.69
Z1177:Ahi1	UTSW	10	21041007	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCAGTGGTTTCCTCAGAC -3'
(R):5'- TACCAACACTTCCTGCAGGC -3'

Sequencing Primer
(F):5'- AGTGGTTTCCTCAGACCCTCC -3'
(R):5'- GCAGGCCACTAATAGCTTCTTGG -3'

Posted On

2020-07-13