Mutagenetix > Incidental Mutation

Incidental Mutation 'R6744:Ahi1'

532794

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

044861-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R6744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20828446-20956328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20841466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 251 (L251H)

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: L251H

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

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: L251H

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: L251H

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

Meta Mutation Damage Score

0.4063

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (47/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	A	T	17: 72,910,077 (GRCm39)	S210T	probably benign	Het
Arap2	A	G	5: 62,906,281 (GRCm39)	F246S	probably damaging	Het
Atad5	T	A	11: 80,024,858 (GRCm39)	N1749K	probably benign	Het
C87436	T	A	6: 86,423,046 (GRCm39)	S207T	probably damaging	Het
C8b	C	T	4: 104,631,543 (GRCm39)	R53W	probably damaging	Het
Catsperg2	A	G	7: 29,409,244 (GRCm39)	V619A	probably benign	Het
Cdc73	G	A	1: 143,577,887 (GRCm39)		probably benign	Het
Cdh4	C	A	2: 179,489,180 (GRCm39)	H297Q	possibly damaging	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,816,207 (GRCm39)	N1328S	probably damaging	Het
Ctnnb1	T	A	9: 120,782,025 (GRCm39)	V346E	probably damaging	Het
Ctns	C	T	11: 73,076,111 (GRCm39)	G308E	probably damaging	Het
Cxxc4	AGGCGGCGGCGGCGGCGGCGGCGGC	AGGCGGCGGCGGCGGCGGCGGCGGCGGC	3: 133,945,891 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,014,532 (GRCm39)	I3685T	probably damaging	Het
Dock6	T	C	9: 21,742,770 (GRCm39)	H775R	probably damaging	Het
Eef1ece2	A	T	16: 20,449,116 (GRCm39)	K165N	probably damaging	Het
Fbxl3	A	T	14: 103,320,730 (GRCm39)	V239D	probably damaging	Het
Gh	T	A	11: 106,192,230 (GRCm39)	K55*	probably null	Het
Havcr2	T	G	11: 46,345,887 (GRCm39)		probably null	Het
Kcnq2	T	A	2: 180,727,099 (GRCm39)	H576L	possibly damaging	Het
Kifap3	A	G	1: 163,676,239 (GRCm39)	N398S	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Mblac1	A	G	5: 138,192,682 (GRCm39)	E8G	possibly damaging	Het
Mtor	C	T	4: 148,543,112 (GRCm39)	T290I	probably benign	Het
Nceh1	T	C	3: 27,295,938 (GRCm39)	Y400H	probably damaging	Het
Nek9	A	G	12: 85,376,703 (GRCm39)	V226A	probably benign	Het
Or10a3	T	C	7: 108,480,037 (GRCm39)	T259A	probably damaging	Het
Or10al3	T	A	17: 38,012,336 (GRCm39)	Y258*	probably null	Het
Or2d4	A	G	7: 106,543,741 (GRCm39)	S156P	probably damaging	Het
Otud4	C	A	8: 80,400,407 (GRCm39)	Y1039*	probably null	Het
Pax4	T	C	6: 28,442,396 (GRCm39)	H331R	probably benign	Het
Piezo2	A	T	18: 63,165,960 (GRCm39)	Y2090*	probably null	Het
Ppp1r12a	T	A	10: 108,066,395 (GRCm39)	H195Q	probably damaging	Het
Ppp6r2	A	G	15: 89,140,864 (GRCm39)		probably null	Het
Prodh	A	G	16: 17,897,064 (GRCm39)	V23A	probably benign	Het
Psg20	G	A	7: 18,408,505 (GRCm39)	T405I	probably damaging	Het
Ptprf	T	C	4: 118,093,562 (GRCm39)	D360G	probably benign	Het
Qrfprl	T	A	6: 65,418,324 (GRCm39)	M164K	possibly damaging	Het
Rad18	A	T	6: 112,652,745 (GRCm39)	M284K	probably damaging	Het
Rgs17	T	C	10: 5,792,567 (GRCm39)	K60E	possibly damaging	Het
Sec31a	G	T	5: 100,540,358 (GRCm39)	Q39K	possibly damaging	Het
Slc22a22	G	T	15: 57,117,668 (GRCm39)	T291K	possibly damaging	Het
Sult2a6	C	T	7: 13,956,470 (GRCm39)	E264K	probably damaging	Het
Syne2	C	T	12: 76,121,221 (GRCm39)	R5896C	probably damaging	Het
Tctn1	A	T	5: 122,402,209 (GRCm39)	V75D	probably damaging	Het
Tmem214	A	G	5: 31,031,372 (GRCm39)	K409E	probably damaging	Het
Vcan	T	C	13: 89,853,301 (GRCm39)	Y553C	probably damaging	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	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
R3969:Ahi1	UTSW	10	20,835,846 (GRCm39)	missense	probably damaging	1.00
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
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'- TAAGCTTCTGAAGGAGTTGCTG -3'
(R):5'- ATTATCATCTGGCTCCCATAGAG -3'

Sequencing Primer
(F):5'- GCAAGATTGTAAGAAGACACCATTAC -3'
(R):5'- AATCTCACATTACCACATAACAACC -3'

Posted On

2018-08-29