Mutagenetix > Incidental Mutation

Incidental Mutation 'R5899:Ahi1'

457736

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

044098-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R5899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20828446-20956328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20876465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 792 (I792T)

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: I792T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101164
Gene: ENSMUSG00000019986
AA Change: I792T

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: ENSMUST00000213104
AA Change: I792T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214893

Meta Mutation Damage Score

0.1004

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

93% (56/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks1b	T	A	10: 90,759,379 (GRCm39)		probably null	Het
Ano3	T	G	2: 110,693,232 (GRCm39)	D122A	probably benign	Het
Atp12a	T	C	14: 56,610,801 (GRCm39)	V315A	probably benign	Het
B230104I21Rik	G	T	4: 154,433,986 (GRCm39)	G57*	probably null	Het
Bpifb2	A	G	2: 153,733,050 (GRCm39)	K378E	probably damaging	Het
Cdk5rap2	T	C	4: 70,161,830 (GRCm39)		probably benign	Het
Ceacam23	A	G	7: 17,651,369 (GRCm39)	D840G	possibly damaging	Het
Cflar	A	G	1: 58,791,927 (GRCm39)	D410G	probably benign	Het
Clcn6	A	G	4: 148,102,049 (GRCm39)	V345A	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Ddx50	T	A	10: 62,476,596 (GRCm39)	K226*	probably null	Het
Dnah5	T	C	15: 28,448,513 (GRCm39)	V4192A	possibly damaging	Het
Dnah8	G	A	17: 30,875,659 (GRCm39)	D494N	probably benign	Het
Dock7	A	T	4: 98,879,660 (GRCm39)	C965S	probably benign	Het
Dst	C	T	1: 34,334,370 (GRCm39)	A5083V	probably damaging	Het
E130208F15Rik	T	C	7: 30,021,726 (GRCm39)	Q10R	probably damaging	Het
Fbxw15	T	C	9: 109,384,741 (GRCm39)		probably null	Het
Fxr2	A	G	11: 69,543,511 (GRCm39)	N671D	probably damaging	Het
Gbp7	A	G	3: 142,252,303 (GRCm39)	T629A	probably benign	Het
Grm1	T	C	10: 10,565,092 (GRCm39)	Y1072C	probably benign	Het
Hmcn2	A	T	2: 31,244,685 (GRCm39)	E714V	possibly damaging	Het
Hsd17b13	T	A	5: 104,113,730 (GRCm39)	E205D	probably benign	Het
Igf2bp3	A	G	6: 49,094,084 (GRCm39)		probably benign	Het
Il2ra	A	G	2: 11,689,248 (GRCm39)	H259R	probably benign	Het
Klk15	G	T	7: 43,588,247 (GRCm39)	R185L	probably benign	Het
Map3k11	T	G	19: 5,745,937 (GRCm39)		probably null	Het
Morn3	A	G	5: 123,179,166 (GRCm39)	W95R	probably damaging	Het
Nipbl	A	G	15: 8,364,328 (GRCm39)		probably null	Het
Nrap	A	T	19: 56,329,006 (GRCm39)	V1145D	possibly damaging	Het
Or1e35	A	G	11: 73,797,755 (GRCm39)	S188P	probably damaging	Het
Or2l13b	C	T	16: 19,349,551 (GRCm39)	G40R	probably damaging	Het
Or9k2	T	A	10: 129,998,542 (GRCm39)	I218F	probably benign	Het
Pdcd11	A	G	19: 47,093,198 (GRCm39)	N492S	possibly damaging	Het
Ptgfr	C	T	3: 151,540,738 (GRCm39)	V257I	probably damaging	Het
Racgap1	T	C	15: 99,521,509 (GRCm39)	E549G	possibly damaging	Het
Rfx3	T	C	19: 27,808,165 (GRCm39)	T193A	probably damaging	Het
Rplp0	T	A	5: 115,699,489 (GRCm39)	I149N	probably benign	Het
Samd7	T	G	3: 30,810,883 (GRCm39)	I300S	probably benign	Het
Scpep1	A	G	11: 88,825,402 (GRCm39)		probably null	Het
Senp6	T	C	9: 80,049,352 (GRCm39)		probably benign	Het
Serpinb2	G	T	1: 107,447,446 (GRCm39)	G78V	probably damaging	Het
Sesn1	T	C	10: 41,687,189 (GRCm39)	S58P	probably benign	Het
Skic3	A	G	13: 76,259,938 (GRCm39)		probably null	Het
Spg11	T	C	2: 121,928,680 (GRCm39)	D591G	possibly damaging	Het
Spire2	A	C	8: 124,080,833 (GRCm39)	S26R	probably damaging	Het
Strip2	T	A	6: 29,956,957 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,697,519 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,460,924 (GRCm39)	Y750C	probably damaging	Het
Wnt11	T	A	7: 98,488,383 (GRCm39)	Y23*	probably null	Het
Zbp1	T	A	2: 173,052,340 (GRCm39)	D272V	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
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
R6744:Ahi1	UTSW	10	20,841,466 (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'- ATTTGCATTGCCTTCAAAGCTC -3'
(R):5'- ATGGCTTCAAAACTAGTGCTTG -3'

Sequencing Primer
(F):5'- CTTACCAGTTATGTTGCCTATCAATG -3'
(R):5'- GGCTTCAAAACTAGTGCTTGAAAAG -3'

Posted On

2017-02-15