Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Atat1'

181482

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atat1

Ensembl Gene

ENSMUSG00000024426

Gene Name

alpha tubulin acetyltransferase 1

Synonyms

2610110G12Rik, 0610011P08Rik, 3110080J08Rik, 2610008K08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

35897595-35910075 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 35908843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025305] [ENSMUST00000056034] [ENSMUST00000061052] [ENSMUST00000077494] [ENSMUST00000113782] [ENSMUST00000141132] [ENSMUST00000141662] [ENSMUST00000149277] [ENSMUST00000174807]

AlphaFold

Q8K341

Predicted Effect

probably benign
Transcript: ENSMUST00000025305

SMART Domains

Protein: ENSMUSP00000025305
Gene: ENSMUSG00000024436

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S18	109	161	8.1e-18	PFAM
low complexity region	196	207	N/A	INTRINSIC
low complexity region	208	217	N/A	INTRINSIC
low complexity region	224	245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000056034

SMART Domains

Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	1.5e-57	PFAM
low complexity region	232	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061052

SMART Domains

Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	74	191	1.5e-53	PFAM
Pfam:Acetyltransf_1	88	157	6.8e-5	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077494

SMART Domains

Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2.5e-57	PFAM
low complexity region	232	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113782

SMART Domains

Protein: ENSMUSP00000109412
Gene: ENSMUSG00000024436

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S18	18	69	5.1e-16	PFAM
low complexity region	104	115	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
low complexity region	132	153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126744

SMART Domains

Protein: ENSMUSP00000122211
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
Pfam:Mec-17	1	83	2.7e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137069

Predicted Effect

probably benign
Transcript: ENSMUST00000137182

Predicted Effect

probably benign
Transcript: ENSMUST00000140292

SMART Domains

Protein: ENSMUSP00000119039
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
PDB:4GS4\|A	2	36	9e-13	PDB
low complexity region	50	67	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140990

Predicted Effect

probably benign
Transcript: ENSMUST00000141132

SMART Domains

Protein: ENSMUSP00000117824
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
Pfam:Mec-17	29	149	9.1e-59	PFAM
low complexity region	166	177	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141662

SMART Domains

Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	1.7e-57	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149277

SMART Domains

Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
Pfam:Mec-17	72	192	2e-57	PFAM
low complexity region	209	228	N/A	INTRINSIC
low complexity region	255	272	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174574

Predicted Effect

probably benign
Transcript: ENSMUST00000172642

Predicted Effect

probably benign
Transcript: ENSMUST00000174349

Predicted Effect

probably benign
Transcript: ENSMUST00000174807

SMART Domains

Protein: ENSMUSP00000133584
Gene: ENSMUSG00000024436

Domain	Start	End	E-Value	Type
SCOP:d1fjgr_	91	128	1e-8	SMART
low complexity region	130	141	N/A	INTRINSIC
low complexity region	142	151	N/A	INTRINSIC
low complexity region	158	179	N/A	INTRINSIC

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 encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired alpha tubulin acetylation and abnormal dentate gyrus morphology. Mice homozygous for a different knock-out allele exhibit reduced male fertility associated with teratozoospermia, oligozoospermia andasthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Atat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Atat1	APN	17	35897883	missense	probably benign	0.04
IGL01903:Atat1	APN	17	35897800	missense	probably benign	0.00
IGL02725:Atat1	APN	17	35909489	missense	probably benign	0.01
IGL02729:Atat1	APN	17	35898391	missense	probably benign	0.00
R0633:Atat1	UTSW	17	35901423	missense	probably damaging	1.00
R1541:Atat1	UTSW	17	35904331	missense	probably damaging	1.00
R1944:Atat1	UTSW	17	35909340	missense	probably damaging	1.00
R2054:Atat1	UTSW	17	35901369	missense	probably null	0.99
R2132:Atat1	UTSW	17	35909439	missense	probably damaging	1.00
R4967:Atat1	UTSW	17	35901575	missense	probably damaging	1.00
R6062:Atat1	UTSW	17	35908564	missense	probably damaging	1.00
R6347:Atat1	UTSW	17	35910029	missense	probably damaging	1.00
R6380:Atat1	UTSW	17	35908957	splice site	probably null
R7010:Atat1	UTSW	17	35908630	missense	probably damaging	1.00
R7028:Atat1	UTSW	17	35910005	missense	probably benign	0.01
R7230:Atat1	UTSW	17	35909439	missense	probably damaging	1.00
R7520:Atat1	UTSW	17	35897814	missense	probably benign	0.36
R7607:Atat1	UTSW	17	35909107	missense	possibly damaging	0.48
R8104:Atat1	UTSW	17	35904116	missense	probably benign	0.08
R8334:Atat1	UTSW	17	35909258	critical splice donor site	probably null
R9031:Atat1	UTSW	17	35909489	missense	probably benign	0.09
R9174:Atat1	UTSW	17	35909140	missense	probably benign	0.26
R9587:Atat1	UTSW	17	35898290	missense	probably benign	0.03
R9763:Atat1	UTSW	17	35910007	missense	probably damaging	1.00

Posted On

2014-05-07