Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Atat1'

588407

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

045677-MU

Accession Numbers

Essential gene?

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

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36208487-36220967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36219999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 101 (Y101C)

Ref Sequence

ENSEMBL: ENSMUSP00000056383 (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
AA Change: Y101C

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426
AA Change: Y101C

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

possibly damaging
Transcript: ENSMUST00000061052
AA Change: Y101C

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426
AA Change: Y101C

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: Y101C

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

SMART Domains

Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426
AA Change: Y101C

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

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

possibly damaging
Transcript: ENSMUST00000141132
AA Change: Y58C

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117824
Gene: ENSMUSG00000024426
AA Change: Y58C

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

possibly damaging
Transcript: ENSMUST00000141662
AA Change: Y101C

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426
AA Change: Y101C

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
AA Change: Y101C

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426
AA Change: Y101C

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,128,383 (GRCm39)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,417,894 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,847,667 (GRCm39)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,997,325 (GRCm39)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,689,382 (GRCm39)	A169V	probably damaging	Het
Atp6v1c1	T	C	15: 38,683,255 (GRCm39)		probably null	Het
Atp7b	T	G	8: 22,501,522 (GRCm39)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,548,246 (GRCm39)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,146,332 (GRCm39)	H107L	probably damaging	Het
Cobll1	T	C	2: 64,926,201 (GRCm39)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,968,331 (GRCm39)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,921,791 (GRCm39)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,172,051 (GRCm39)	R948*	probably null	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm39)	V78A	probably damaging	Het
Evc2	A	G	5: 37,544,200 (GRCm39)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,966,391 (GRCm39)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,534,581 (GRCm39)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,596,747 (GRCm39)	L156*	probably null	Het
Gk5	A	T	9: 96,035,263 (GRCm39)		probably null	Het
Gm3573	A	G	14: 42,011,707 (GRCm39)	F8L	probably benign	Het
Gm9767	G	A	10: 25,954,838 (GRCm39)	C130Y	unknown	Het
Grip2	T	C	6: 91,765,393 (GRCm39)	T30A	probably benign	Het
Gskip	C	A	12: 105,665,156 (GRCm39)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 34,266,493 (GRCm39)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,656,626 (GRCm39)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,775,151 (GRCm39)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igdcc4	C	T	9: 65,041,040 (GRCm39)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,212,750 (GRCm39)		probably null	Het
Knl1	T	C	2: 118,925,614 (GRCm39)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,121,099 (GRCm39)	E518G	unknown	Het
Mlh1	A	G	9: 111,058,958 (GRCm39)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,120,897 (GRCm39)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,794 (GRCm39)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm39)	I33F	probably benign	Het
Mylk	C	T	16: 34,715,184 (GRCm39)	P504L	probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Obscn	G	T	11: 58,889,091 (GRCm39)	S7560R	unknown	Het
Or1m1	A	G	9: 18,666,178 (GRCm39)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,234,137 (GRCm39)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,127,613 (GRCm39)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,119,457 (GRCm39)	H19L	probably benign	Het
Plce1	C	A	19: 38,513,196 (GRCm39)	A165E	probably benign	Het
Polr1a	T	C	6: 71,890,005 (GRCm39)	S75P	probably benign	Het
Psg21	T	C	7: 18,388,708 (GRCm39)	E128G	probably benign	Het
Radil	A	G	5: 142,492,368 (GRCm39)	I420T	probably damaging	Het
Radil	A	T	5: 142,480,550 (GRCm39)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,287,029 (GRCm39)	T175I	probably damaging	Het
Robo1	C	T	16: 72,360,626 (GRCm39)	P13S		Het
Slc18a2	C	A	19: 59,272,790 (GRCm39)	A364D	probably benign	Het
Snph	C	T	2: 151,436,506 (GRCm39)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,041,688 (GRCm39)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,833,997 (GRCm39)	D24G	probably benign	Het
Spag6	T	A	2: 18,736,773 (GRCm39)	D165E	possibly damaging	Het
Spata31	T	G	13: 65,069,406 (GRCm39)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,404,296 (GRCm39)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,466,661 (GRCm39)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,163,941 (GRCm39)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,475,866 (GRCm39)	T40A	unknown	Het
Terb2	G	T	2: 122,016,956 (GRCm39)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,826,921 (GRCm39)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,772,458 (GRCm39)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,576,817 (GRCm39)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r48	C	A	6: 90,012,962 (GRCm39)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,321,506 (GRCm39)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,287,570 (GRCm39)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,303,688 (GRCm39)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,843,939 (GRCm39)	D992E	possibly 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
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
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'- CAGAATGCAAAGGGGTTCTACCTC -3'
(R):5'- TCACCAGCGCTTTGAGGATG -3'

Sequencing Primer
(F):5'- CAAAGGGGTTCTACCTCATTGTGAG -3'
(R):5'- GGCACGTTATTTACATACTGAAGGAC -3'

Posted On

2019-10-24