Mutagenetix > Incidental Mutation

Incidental Mutation 'R8899:Ate1'

679837

Institutional Source

Beutler Lab

Gene Symbol

Ate1

Ensembl Gene

ENSMUSG00000030850

Gene Name

arginyltransferase 1

Synonyms

MMRRC Submission

068756-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8899 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129993223-130122099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129996389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 484 (K484E)

Ref Sequence

ENSEMBL: ENSMUSP00000043365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033139] [ENSMUST00000035458] [ENSMUST00000094017] [ENSMUST00000124096] [ENSMUST00000178534] [ENSMUST00000216011]

AlphaFold

Q9Z2A5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033139
AA Change: K484E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: K484E

Domain	Start	End	E-Value	Type
Pfam:ATE_N	18	92	1.2e-32	PFAM
low complexity region	147	168	N/A	INTRINSIC
low complexity region	224	236	N/A	INTRINSIC
Pfam:ATE_C	288	430	4.3e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035458
AA Change: K484E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: K484E

Domain	Start	End	E-Value	Type
Pfam:ATE_N	14	92	2.3e-30	PFAM
low complexity region	147	168	N/A	INTRINSIC
low complexity region	224	236	N/A	INTRINSIC
Pfam:ATE_C	287	431	6.6e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094017
AA Change: K477E

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: K477E

Domain	Start	End	E-Value	Type
Pfam:ATE_N	7	85	3.3e-29	PFAM
low complexity region	140	161	N/A	INTRINSIC
low complexity region	217	229	N/A	INTRINSIC
Pfam:ATE_C	280	424	2.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178534
AA Change: K477E

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: K477E

Domain	Start	End	E-Value	Type
Pfam:ATE_N	7	85	3.3e-29	PFAM
low complexity region	140	161	N/A	INTRINSIC
low complexity region	217	229	N/A	INTRINSIC
Pfam:ATE_C	280	424	6.4e-49	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in developmental defects of the heart and embryonic lethality between E13.5 and E15.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt2	A	T	15: 10,378,900 (GRCm39)	N167I	probably damaging	Het
Arel1	A	G	12: 84,981,017 (GRCm39)	I330T	probably benign	Het
Atl2	T	C	17: 80,183,469 (GRCm39)	D42G	probably benign	Het
Bltp1	T	C	3: 37,042,429 (GRCm39)	I2805T	probably damaging	Het
Cd209e	C	T	8: 3,901,212 (GRCm39)	W147*	probably null	Het
Cdc40	G	A	10: 40,717,809 (GRCm39)	Q365*	probably null	Het
Cenpe	A	G	3: 134,945,644 (GRCm39)	T1053A	probably benign	Het
Colgalt1	T	C	8: 72,076,306 (GRCm39)	S586P	probably damaging	Het
Crem	A	G	18: 3,295,370 (GRCm39)	I91T	probably damaging	Het
Csrnp3	G	A	2: 65,852,987 (GRCm39)	V460I	possibly damaging	Het
Cul1	T	A	6: 47,474,246 (GRCm39)	I136N	possibly damaging	Het
Ddx19b	A	T	8: 111,737,929 (GRCm39)	I273N	probably damaging	Het
Fap	A	G	2: 62,348,817 (GRCm39)	I505T	probably damaging	Het
Fbxo44	A	T	4: 148,238,078 (GRCm39)	Y216*	probably null	Het
Fbxw10	T	A	11: 62,748,567 (GRCm39)	M398K	probably damaging	Het
Fut10	T	C	8: 31,726,514 (GRCm39)	V423A	possibly damaging	Het
Fyco1	A	C	9: 123,655,646 (GRCm39)	D1037E	probably benign	Het
Gabrg2	G	A	11: 41,867,377 (GRCm39)	R81*	probably null	Het
Gcn1	T	C	5: 115,717,220 (GRCm39)	V204A	probably benign	Het
Gnl1	T	C	17: 36,299,608 (GRCm39)	L593P	probably damaging	Het
Grm4	T	C	17: 27,653,754 (GRCm39)	Q732R	probably damaging	Het
Icam5	T	C	9: 20,948,415 (GRCm39)	V741A	possibly damaging	Het
Iqub	C	T	6: 24,505,768 (GRCm39)	E47K	probably benign	Het
Kcnk3	A	G	5: 30,779,580 (GRCm39)	K210R	probably benign	Het
Kdm2b	T	A	5: 123,125,851 (GRCm39)	R12*	probably null	Het
Kifbp	T	C	10: 62,399,282 (GRCm39)		probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi1	C	T	19: 38,294,538 (GRCm39)	H413Y	probably damaging	Het
Lhx8	A	G	3: 154,033,653 (GRCm39)	Y51H	probably damaging	Het
Lim2	T	C	7: 43,083,055 (GRCm39)	I80T	probably benign	Het
Macf1	A	G	4: 123,368,852 (GRCm39)	F405L	probably benign	Het
Mefv	G	A	16: 3,528,764 (GRCm39)	T559I	probably damaging	Het
Nin	A	G	12: 70,077,710 (GRCm39)	W1739R	probably damaging	Het
Or10h1	A	T	17: 33,418,718 (GRCm39)	K232M	probably damaging	Het
Or11j4	T	C	14: 50,630,269 (GRCm39)	F19L	probably damaging	Het
Or5t16	A	G	2: 86,818,710 (GRCm39)	I270T	probably benign	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Otop3	T	C	11: 115,231,886 (GRCm39)		probably null	Het
Pate9	A	T	9: 36,446,254 (GRCm39)	C53S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,082 (GRCm39)	I247V	probably benign	Het
Polr2d	T	A	18: 31,922,226 (GRCm39)	M1K	probably null	Het
Prss53	T	C	7: 127,488,193 (GRCm39)	T141A	possibly damaging	Het
Rdh12	A	G	12: 79,268,802 (GRCm39)	N293S	probably benign	Het
Rnf146	G	A	10: 29,223,754 (GRCm39)	T44I	probably benign	Het
Rsbn1l	A	T	5: 21,101,865 (GRCm39)	C588S	probably damaging	Het
Septin8	G	A	11: 53,426,862 (GRCm39)	V208I	probably damaging	Het
Sgo2a	T	G	1: 58,058,822 (GRCm39)	S1134A	possibly damaging	Het
Sh3bp4	C	T	1: 89,073,297 (GRCm39)	T715I	probably benign	Het
Snrnp200	A	G	2: 127,078,517 (GRCm39)	T1758A	probably damaging	Het
Snx6	A	T	12: 54,812,423 (GRCm39)	D70E	probably benign	Het
Spag9	T	C	11: 93,983,695 (GRCm39)	S341P	probably damaging	Het
Sparcl1	T	C	5: 104,240,590 (GRCm39)	D278G	probably benign	Het
Spmap2l	T	A	5: 77,185,200 (GRCm39)		probably null	Het
Srbd1	T	A	17: 86,292,885 (GRCm39)	S895C		Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Tas2r136	T	C	6: 132,754,323 (GRCm39)	D268G	probably benign	Het
Tas2r143	T	A	6: 42,377,888 (GRCm39)	Y239*	probably null	Het
Tbc1d17	C	T	7: 44,492,328 (GRCm39)	G419D	probably damaging	Het
Tff2	C	T	17: 31,362,113 (GRCm39)	W68*	probably null	Het
Thop1	T	C	10: 80,916,440 (GRCm39)	C483R	probably damaging	Het
Tmem245	A	C	4: 56,903,916 (GRCm39)		probably null	Het
Tmem67	A	G	4: 12,055,038 (GRCm39)	F655S	probably damaging	Het
Trim36	T	G	18: 46,302,264 (GRCm39)	S583R	possibly damaging	Het
Ucp1	T	C	8: 84,017,216 (GRCm39)	V2A	probably benign	Het
Ugt1a6a	T	A	1: 88,066,803 (GRCm39)	M203K	probably damaging	Het
Usp1	A	G	4: 98,819,347 (GRCm39)	K270E	probably damaging	Het
Vps13c	T	C	9: 67,841,783 (GRCm39)	F1935S	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp799	G	T	17: 33,039,348 (GRCm39)	P306Q	probably damaging	Het
Zfp831	A	T	2: 174,485,978 (GRCm39)	R218W	probably damaging	Het

Other mutations in Ate1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02978:Ate1	APN	7	129,996,470 (GRCm39)	splice site	probably benign
R0025:Ate1	UTSW	7	130,105,523 (GRCm39)	missense	probably damaging	1.00
R0615:Ate1	UTSW	7	130,115,563 (GRCm39)	splice site	probably benign
R1293:Ate1	UTSW	7	129,996,455 (GRCm39)	missense	probably benign	0.03
R1299:Ate1	UTSW	7	130,106,485 (GRCm39)	missense	probably damaging	0.99
R1476:Ate1	UTSW	7	130,020,301 (GRCm39)	splice site	probably null
R1555:Ate1	UTSW	7	130,110,821 (GRCm39)	missense	probably benign
R2061:Ate1	UTSW	7	130,112,643 (GRCm39)	missense	probably damaging	1.00
R2358:Ate1	UTSW	7	130,117,895 (GRCm39)	missense	probably damaging	0.99
R3840:Ate1	UTSW	7	130,117,867 (GRCm39)	missense	probably damaging	1.00
R3950:Ate1	UTSW	7	130,069,022 (GRCm39)	missense	probably damaging	1.00
R4038:Ate1	UTSW	7	130,106,495 (GRCm39)	missense	probably damaging	1.00
R4716:Ate1	UTSW	7	130,115,511 (GRCm39)	missense	probably damaging	1.00
R4954:Ate1	UTSW	7	130,110,748 (GRCm39)	missense	probably benign	0.34
R5151:Ate1	UTSW	7	130,109,394 (GRCm39)	missense	possibly damaging	0.77
R5796:Ate1	UTSW	7	130,068,998 (GRCm39)	missense	probably damaging	1.00
R6297:Ate1	UTSW	7	130,105,570 (GRCm39)	missense	probably damaging	1.00
R7146:Ate1	UTSW	7	130,083,508 (GRCm39)	splice site	probably null
R7250:Ate1	UTSW	7	130,121,701 (GRCm39)	unclassified	probably benign
R7291:Ate1	UTSW	7	130,121,661 (GRCm39)	missense	probably benign
R7547:Ate1	UTSW	7	130,106,539 (GRCm39)	missense	probably benign	0.19
R7781:Ate1	UTSW	7	130,121,157 (GRCm39)	missense	probably damaging	0.99
R8006:Ate1	UTSW	7	130,069,118 (GRCm39)	missense	probably damaging	1.00
R8257:Ate1	UTSW	7	130,069,037 (GRCm39)	missense	probably damaging	1.00
R8342:Ate1	UTSW	7	130,105,495 (GRCm39)	missense	probably benign	0.10
R9146:Ate1	UTSW	7	130,069,022 (GRCm39)	missense	probably damaging	1.00
R9155:Ate1	UTSW	7	129,996,463 (GRCm39)	missense	probably damaging	1.00
X0011:Ate1	UTSW	7	129,996,391 (GRCm39)	missense	probably damaging	1.00
Z1176:Ate1	UTSW	7	130,106,444 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AAGCTCTACGAATGTACTTGGTG -3'
(R):5'- TCTTATGAATGTGCCCTTGAGC -3'

Sequencing Primer
(F):5'- CTCTACGAATGTACTTGGTGAATGGC -3'
(R):5'- AATGTGCCCTTGAGCACACTG -3'

Posted On

2021-08-31