Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Ahi1'

365824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ahi1

Ensembl Gene

ENSMUSG00000019986

Gene Name

Abelson helper integration site 1

Synonyms

1700015F03Rik, Jouberin, D10Bwg0629e, Ahi-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

20952547-21080429 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21000551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 787 (L787P)

Ref Sequence

ENSEMBL: ENSMUSP00000149010 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000105525
AA Change: L787P

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: L787P

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: ENSMUST00000213104
AA Change: L787P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219 (GRCm38)	T130I	probably benign	Het
Atf3	A	G	1: 191,177,443 (GRCm38)	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900 (GRCm38)	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699 (GRCm38)	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933 (GRCm38)	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738 (GRCm38)	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929 (GRCm38)		probably benign	Het
Dnah5	A	G	15: 28,384,461 (GRCm38)	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109 (GRCm38)	E1834G	probably null	Het
Eea1	A	G	10: 96,041,527 (GRCm38)	T1368A	probably benign	Het
Fam83f	T	C	15: 80,672,149 (GRCm38)	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473 (GRCm38)	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923 (GRCm38)	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549 (GRCm38)	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688 (GRCm38)	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178 (GRCm38)	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374 (GRCm38)	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626 (GRCm38)		probably benign	Het
Iqgap3	T	A	3: 88,090,304 (GRCm38)	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758 (GRCm38)	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080 (GRCm38)	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243 (GRCm38)	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568 (GRCm38)		probably benign	Het
Npffr1	T	C	10: 61,614,139 (GRCm38)	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385 (GRCm38)	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268 (GRCm38)	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533 (GRCm38)	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255 (GRCm38)	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073 (GRCm38)	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069 (GRCm38)	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326 (GRCm38)	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192 (GRCm38)	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689 (GRCm38)	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470 (GRCm38)		probably null	Het
Slc5a9	T	C	4: 111,890,300 (GRCm38)	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104 (GRCm38)		probably benign	Het
St8sia2	C	T	7: 73,966,811 (GRCm38)	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280 (GRCm38)	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422 (GRCm38)		probably benign	Het
Tmem220	A	G	11: 67,034,107 (GRCm38)		probably null	Het
Uspl1	A	G	5: 149,188,346 (GRCm38)	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334 (GRCm38)	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894 (GRCm38)	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744 (GRCm38)	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966 (GRCm38)	M57K	probably benign	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
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
R4755:Ahi1	UTSW	10	21,055,047 (GRCm38)	missense	possibly damaging	0.94
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

Posted On

2015-12-18