Mutagenetix > Incidental Mutation

Incidental Mutation 'R6347:Atat1'

520079

Institutional Source

Beutler Lab

Gene Symbol

Atat1

Ensembl Gene

ENSMUSG00000024426

Gene Name

alpha tubulin acetyltransferase 1

Synonyms

3110080J08Rik, 2610110G12Rik, MEC-17, 0610011P08Rik, 2610008K08Rik

MMRRC Submission

044501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R6347 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

36208487-36220967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36220921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 3 (F3L)

Ref Sequence

ENSEMBL: ENSMUSP00000122715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025305] [ENSMUST00000056034] [ENSMUST00000061052] [ENSMUST00000077494] [ENSMUST00000113782] [ENSMUST00000141662] [ENSMUST00000149277] [ENSMUST00000141132] [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 damaging
Transcript: ENSMUST00000056034
AA Change: F3L

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

SMART Domains

Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426
AA Change: F3L

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 damaging
Transcript: ENSMUST00000061052
AA Change: F3L

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

SMART Domains

Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426
AA Change: F3L

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 damaging
Transcript: ENSMUST00000077494
AA Change: F3L

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

SMART Domains

Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426
AA Change: F3L

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

probably damaging
Transcript: ENSMUST00000141662
AA Change: F3L

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

SMART Domains

Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426
AA Change: F3L

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 damaging
Transcript: ENSMUST00000149277
AA Change: F3L

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

SMART Domains

Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426
AA Change: F3L

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

unknown
Transcript: ENSMUST00000137182
AA Change: F1L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137069

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

noncoding transcript
Transcript: ENSMUST00000149452

Predicted Effect

probably benign
Transcript: ENSMUST00000172642

Predicted Effect

probably benign
Transcript: ENSMUST00000174349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174574

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

1x: 99.9%
3x: 99.6%
10x: 97.6%
20x: 92.3%

Validation Efficiency

95% (41/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7	T	A	15: 102,454,914 (GRCm39)	M285L	possibly damaging	Het
Bcl7b	T	C	5: 135,209,387 (GRCm39)	S95P	possibly damaging	Het
Cald1	A	C	6: 34,741,981 (GRCm39)	K453Q	probably damaging	Het
Cimip1	G	T	2: 173,369,708 (GRCm39)	R74L	possibly damaging	Het
Cog4	A	T	8: 111,607,275 (GRCm39)	I580F	probably damaging	Het
Cpq	T	A	15: 33,290,332 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,229,752 (GRCm39)	D440N	probably damaging	Het
Dst	A	G	1: 34,218,765 (GRCm39)		probably null	Het
Eif2b3	T	C	4: 116,901,763 (GRCm39)	V142A	probably benign	Het
Fat3	A	T	9: 15,909,668 (GRCm39)	N2111K	probably damaging	Het
Fbxo31	C	A	8: 122,305,198 (GRCm39)	E99D	possibly damaging	Het
Fgfr2	T	C	7: 129,863,487 (GRCm39)	E34G	probably damaging	Het
Flvcr2	T	C	12: 85,794,194 (GRCm39)	V190A	possibly damaging	Het
Herc2	T	C	7: 55,844,151 (GRCm39)		probably null	Het
Igkv3-2	A	C	6: 70,676,017 (GRCm39)	M109L	probably benign	Het
Il36rn	G	A	2: 24,169,726 (GRCm39)	A29T	probably damaging	Het
Kif13b	C	T	14: 65,005,068 (GRCm39)	T1120I	probably benign	Het
Kmt2c	A	G	5: 25,515,833 (GRCm39)	I2670T	possibly damaging	Het
Lcp2	A	G	11: 34,032,501 (GRCm39)	M360V	probably benign	Het
Ldlrad4	A	G	18: 68,368,851 (GRCm39)	S103G	probably benign	Het
Loxl4	T	C	19: 42,596,709 (GRCm39)	K88E	probably damaging	Het
Ltbp2	C	A	12: 84,900,686 (GRCm39)	R192L	probably damaging	Het
Mast2	C	A	4: 116,174,929 (GRCm39)	G475V	probably damaging	Het
Meis1	A	C	11: 18,855,631 (GRCm39)		probably null	Het
Mroh3	T	C	1: 136,128,675 (GRCm39)		probably null	Het
Myo5b	C	T	18: 74,903,456 (GRCm39)	A1824V	probably benign	Het
Nectin3	C	T	16: 46,278,487 (GRCm39)	V303M	probably benign	Het
Or5p52	T	C	7: 107,502,157 (GRCm39)	S78P	possibly damaging	Het
Peak1	T	C	9: 56,165,495 (GRCm39)	N811S	probably benign	Het
Pik3ca	C	T	3: 32,516,970 (GRCm39)	A1066V	probably benign	Het
Rnf103	A	G	6: 71,482,808 (GRCm39)	T153A	possibly damaging	Het
Sacs	G	A	14: 61,448,609 (GRCm39)	V3552I	probably damaging	Het
Sgca	A	T	11: 94,862,854 (GRCm39)	N109K	probably damaging	Het
Speg	T	A	1: 75,403,519 (GRCm39)	M2621K	probably benign	Het
Stfa2l1	T	C	16: 35,977,271 (GRCm39)	I22T	probably damaging	Het
Tbpl2	G	A	2: 23,984,715 (GRCm39)	P144L	probably benign	Het
Tmem219	T	C	7: 126,495,998 (GRCm39)	N119S	possibly damaging	Het
Ush2a	A	G	1: 188,643,084 (GRCm39)	T4149A	probably benign	Het
Wdr46	C	A	17: 34,160,826 (GRCm39)	P197T	probably damaging	Het
Wee2	C	T	6: 40,432,039 (GRCm39)	R203C	probably damaging	Het

Other mutations in Atat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Atat1	APN	17	36,208,775 (GRCm39)	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- GCTAGATCCAGGGTCAAAGG -3'
(R):5'- AGGTTCCCTCAGCTGTTCAC -3'

Sequencing Primer
(F):5'- TAGATCCAGGGTCAAAGGTCACC -3'
(R):5'- TCTCAGGGGCACAGACCTAC -3'

Posted On

2018-06-06