Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Atat1'

546159

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

045129-MU

Accession Numbers

Essential gene?

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

Stock #

R7028 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36208487-36220967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36220897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 11 (F11L)

Ref Sequence

ENSEMBL: ENSMUSP00000122715 (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: F11L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426
AA Change: F11L

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
AA Change: F11L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426
AA Change: F11L

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
AA Change: F11L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426
AA Change: F11L

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

unknown
Transcript: ENSMUST00000137182
AA Change: F9L

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
AA Change: F11L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426
AA Change: F11L

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: F11L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426
AA Change: F11L

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: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,096,019 (GRCm39)	I804T	probably benign	Het
Abcb1b	A	T	5: 8,855,441 (GRCm39)	E25V	probably damaging	Het
Adamts9	G	T	6: 92,886,774 (GRCm39)	Y355*	probably null	Het
Akp3	A	G	1: 87,054,500 (GRCm39)	M303V	probably benign	Het
Ankrd35	A	T	3: 96,590,650 (GRCm39)	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,373,294 (GRCm39)		probably null	Het
Asxl1	T	C	2: 153,242,027 (GRCm39)	L859P	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Ccdc7a	A	T	8: 129,608,075 (GRCm39)	H943Q	unknown	Het
Cep135	A	G	5: 76,764,695 (GRCm39)	T558A	probably benign	Het
Cfap99	A	G	5: 34,458,863 (GRCm39)	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,758,801 (GRCm39)		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col17a1	G	A	19: 47,640,622 (GRCm39)	P992L	probably damaging	Het
Col7a1	C	T	9: 108,792,331 (GRCm39)	Q1294*	probably null	Het
Coq8b	T	A	7: 26,939,293 (GRCm39)	C148S	probably damaging	Het
Csmd2	A	G	4: 128,171,021 (GRCm39)	N338S		Het
Cspg5	T	A	9: 110,075,959 (GRCm39)	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,628,341 (GRCm39)	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,089,310 (GRCm39)	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,539,547 (GRCm39)	I469V	probably benign	Het
Fam135b	T	C	15: 71,343,412 (GRCm39)	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,375,629 (GRCm39)	G453*	probably null	Het
Gclc	C	A	9: 77,695,498 (GRCm39)	A440D	probably damaging	Het
Glyat	T	C	19: 12,627,723 (GRCm39)	I106T	probably benign	Het
Gm12185	T	C	11: 48,799,071 (GRCm39)	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,930,494 (GRCm39)	H117R		Het
Ift70a2	A	T	2: 75,806,613 (GRCm39)	L633*	probably null	Het
Ildr2	A	G	1: 166,131,098 (GRCm39)	D318G	probably damaging	Het
Kcnd2	G	A	6: 21,216,177 (GRCm39)		probably benign	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kif3a	G	T	11: 53,477,733 (GRCm39)	G401*	probably null	Het
Lactbl1	T	A	4: 136,360,286 (GRCm39)	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,136,023 (GRCm39)	D1649V	probably benign	Het
Lrrc37	C	T	11: 103,505,363 (GRCm39)	A26T	probably benign	Het
Map2k1	A	G	9: 64,101,105 (GRCm39)	V191A	probably benign	Het
Mdm4	A	T	1: 132,931,547 (GRCm39)	C165S	probably benign	Het
Med27	G	A	2: 29,399,446 (GRCm39)	W92*	probably null	Het
Muc20	A	T	16: 32,614,616 (GRCm39)	S254T	probably benign	Het
Myh1	A	G	11: 67,111,247 (GRCm39)	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,331,571 (GRCm39)	R275P	possibly damaging	Het
Notch2	T	A	3: 98,009,703 (GRCm39)	N543K	probably damaging	Het
Nup214	T	A	2: 31,924,168 (GRCm39)	S1566T	probably benign	Het
Nxnl1	T	G	8: 72,015,437 (GRCm39)	E157A	possibly damaging	Het
Obscn	A	G	11: 58,969,959 (GRCm39)	L61P	probably damaging	Het
Ogg1	A	T	6: 113,306,237 (GRCm39)	I145F	probably damaging	Het
Or10d5j	T	C	9: 39,867,641 (GRCm39)	T197A	probably benign	Het
Or2b2	A	G	13: 21,887,440 (GRCm39)	K90E	possibly damaging	Het
Or2f1	G	A	6: 42,721,337 (GRCm39)	R122H	probably benign	Het
Or51h5	T	C	7: 102,577,149 (GRCm39)	F105L	probably damaging	Het
Pclo	A	G	5: 14,763,461 (GRCm39)	D3978G	unknown	Het
Pla2g4e	T	G	2: 120,000,676 (GRCm39)	D687A	probably damaging	Het
Pla2r1	T	C	2: 60,288,737 (GRCm39)	K632E	probably damaging	Het
Plg	A	T	17: 12,610,723 (GRCm39)	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,015,698 (GRCm39)	N306K	probably damaging	Het
Pspn	A	G	17: 57,306,978 (GRCm39)	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,804,844 (GRCm39)	E484G	probably damaging	Het
Rbmxl1	G	T	8: 79,233,286 (GRCm39)	T19K	probably damaging	Het
Rora	G	A	9: 69,103,365 (GRCm39)	V31I	possibly damaging	Het
Skint5	C	A	4: 113,798,036 (GRCm39)	W182C	probably damaging	Het
Spata31d1c	A	T	13: 65,183,877 (GRCm39)	Q473L	probably damaging	Het
Tesk2	G	A	4: 116,659,884 (GRCm39)	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484 (GRCm39)	V277L	probably benign	Het
Trhde	A	G	10: 114,354,082 (GRCm39)	M537T	probably damaging	Het
Tubb6	G	A	18: 67,534,981 (GRCm39)	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,886,873 (GRCm39)	L196Q	probably damaging	Het
Ubn1	A	T	16: 4,873,188 (GRCm39)	N70I	probably damaging	Het
Ubtf	A	T	11: 102,205,806 (GRCm39)	S40T	probably benign	Het
Virma	C	T	4: 11,519,249 (GRCm39)	A782V	possibly damaging	Het
Xdh	G	T	17: 74,250,868 (GRCm39)	T28K	probably damaging	Het
Xpo4	A	G	14: 57,834,508 (GRCm39)	S691P	probably benign	Het
Zfat	A	C	15: 68,052,301 (GRCm39)	F491V	probably damaging	Het
Zfp623	T	G	15: 75,820,154 (GRCm39)	V370G	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
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
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'- GGGTCAAAGGTCACCAAAAC -3'
(R):5'- AGGTTCCCTCAGCTGTTCAC -3'

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

Posted On

2019-05-13