Incidental Mutation 'IGL00587:Atat1'
ID 9104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atat1
Ensembl Gene ENSMUSG00000024426
Gene Name alpha tubulin acetyltransferase 1
Synonyms 3110080J08Rik, 2610110G12Rik, MEC-17, 0610011P08Rik, 2610008K08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # IGL00587
Quality Score
Status
Chromosome 17
Chromosomal Location 36208487-36220967 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36208775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 352 (D352G)
Ref Sequence ENSEMBL: ENSMUSP00000076703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056034] [ENSMUST00000061052] [ENSMUST00000077494] [ENSMUST00000149277] [ENSMUST00000148721] [ENSMUST00000141662] [ENSMUST00000146451] [ENSMUST00000141132] [ENSMUST00000148482] [ENSMUST00000150056] [ENSMUST00000156817]
AlphaFold Q8K341
Predicted Effect probably benign
Transcript: ENSMUST00000056034
SMART Domains Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
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: ENSMUST00000059740
SMART Domains Protein: ENSMUSP00000050693
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 54 66 N/A INTRINSIC
Pfam:DUF2358 75 200 5.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061052
AA Change: D375G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426
AA Change: D375G

DomainStartEndE-ValueType
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
AA Change: D352G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426
AA Change: D352G

DomainStartEndE-ValueType
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: ENSMUST00000126744
SMART Domains Protein: ENSMUSP00000122211
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
Pfam:Mec-17 1 83 2.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151009
Predicted Effect probably benign
Transcript: ENSMUST00000149277
SMART Domains Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000148721
SMART Domains Protein: ENSMUSP00000116278
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 28 79 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
Pfam:DUF2358 149 274 1.4e-36 PFAM
low complexity region 289 302 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141662
SMART Domains Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
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: ENSMUST00000146451
SMART Domains Protein: ENSMUSP00000115771
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
Pfam:DUF2358 66 191 1.5e-35 PFAM
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140292
SMART Domains Protein: ENSMUSP00000119039
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
PDB:4GS4|A 2 36 9e-13 PDB
low complexity region 50 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154670
SMART Domains Protein: ENSMUSP00000123547
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
Pfam:DUF2358 2 97 7.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141132
SMART Domains Protein: ENSMUSP00000117824
Gene: ENSMUSG00000024426

DomainStartEndE-ValueType
Pfam:Mec-17 29 149 9.1e-59 PFAM
low complexity region 166 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148482
SMART Domains Protein: ENSMUSP00000114151
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
Pfam:DUF2358 66 191 1.5e-35 PFAM
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150056
SMART Domains Protein: ENSMUSP00000121142
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 45 57 N/A INTRINSIC
Pfam:DUF2358 66 130 5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156817
SMART Domains Protein: ENSMUSP00000114851
Gene: ENSMUSG00000050705

DomainStartEndE-ValueType
low complexity region 16 60 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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo2 A C 15: 97,143,327 (GRCm39) M365R possibly damaging Het
Bbs12 A G 3: 37,374,346 (GRCm39) T265A probably damaging Het
Cd300c A T 11: 114,850,616 (GRCm39) N62K probably benign Het
Cdk5rap3 A G 11: 96,804,225 (GRCm39) S43P probably damaging Het
Chchd6 A T 6: 89,546,399 (GRCm39) probably null Het
Cr2 C T 1: 194,836,559 (GRCm39) R868Q possibly damaging Het
Cyp2d9 T C 15: 82,339,344 (GRCm39) S126P possibly damaging Het
Dsg3 T A 18: 20,672,711 (GRCm39) I794N probably damaging Het
Fga A T 3: 82,937,596 (GRCm39) S158C possibly damaging Het
Gm14240 T C 2: 155,894,870 (GRCm39) probably null Het
Itga1 C A 13: 115,148,785 (GRCm39) V279L probably damaging Het
Kdm1b T C 13: 47,222,016 (GRCm39) V485A probably benign Het
Mfap3l T C 8: 61,124,943 (GRCm39) V395A probably benign Het
Nlrp14 T A 7: 106,780,974 (GRCm39) V57E probably benign Het
P2ry12 A T 3: 59,125,303 (GRCm39) I124K probably damaging Het
Paxip1 A G 5: 27,977,550 (GRCm39) probably benign Het
Prkdc T C 16: 15,470,222 (GRCm39) probably benign Het
Rab28 T C 5: 41,860,799 (GRCm39) R52G probably benign Het
Rrp15 T C 1: 186,453,745 (GRCm39) probably null Het
Sel1l2 G A 2: 140,085,864 (GRCm39) L539F possibly damaging Het
Ticam2 T C 18: 46,693,880 (GRCm39) E69G probably benign Het
Zcchc2 T A 1: 105,957,993 (GRCm39) S821R probably benign Het
Zcchc4 T A 5: 52,973,511 (GRCm39) S379T probably benign Het
Zfp53 T C 17: 21,728,600 (GRCm39) V211A probably benign Het
Zmym2 T G 14: 57,140,817 (GRCm39) S219A possibly damaging Het
Other mutations in Atat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01903:Atat1 APN 17 36,208,692 (GRCm39) missense probably benign 0.00
IGL01958:Atat1 APN 17 36,219,735 (GRCm39) unclassified probably benign
IGL02725:Atat1 APN 17 36,220,381 (GRCm39) missense probably benign 0.01
IGL02729:Atat1 APN 17 36,209,283 (GRCm39) missense probably benign 0.00
R0633:Atat1 UTSW 17 36,212,315 (GRCm39) missense probably damaging 1.00
R1541:Atat1 UTSW 17 36,215,223 (GRCm39) missense probably damaging 1.00
R1944:Atat1 UTSW 17 36,220,232 (GRCm39) missense probably damaging 1.00
R2054:Atat1 UTSW 17 36,212,261 (GRCm39) missense probably null 0.99
R2132:Atat1 UTSW 17 36,220,331 (GRCm39) missense probably damaging 1.00
R4967:Atat1 UTSW 17 36,212,467 (GRCm39) missense probably damaging 1.00
R6062:Atat1 UTSW 17 36,219,456 (GRCm39) missense probably damaging 1.00
R6347:Atat1 UTSW 17 36,220,921 (GRCm39) missense probably damaging 1.00
R6380:Atat1 UTSW 17 36,219,849 (GRCm39) splice site probably null
R7010:Atat1 UTSW 17 36,219,522 (GRCm39) missense probably damaging 1.00
R7028:Atat1 UTSW 17 36,220,897 (GRCm39) missense probably benign 0.01
R7230:Atat1 UTSW 17 36,220,331 (GRCm39) missense probably damaging 1.00
R7520:Atat1 UTSW 17 36,208,706 (GRCm39) missense probably benign 0.36
R7607:Atat1 UTSW 17 36,219,999 (GRCm39) missense possibly damaging 0.48
R8104:Atat1 UTSW 17 36,215,008 (GRCm39) missense probably benign 0.08
R8334:Atat1 UTSW 17 36,220,150 (GRCm39) critical splice donor site probably null
R9031:Atat1 UTSW 17 36,220,381 (GRCm39) missense probably benign 0.09
R9174:Atat1 UTSW 17 36,220,032 (GRCm39) missense probably benign 0.26
R9587:Atat1 UTSW 17 36,209,182 (GRCm39) missense probably benign 0.03
R9763:Atat1 UTSW 17 36,220,899 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06