Mutagenetix > Incidental Mutation

Incidental Mutation 'R7781:Ate1'

599242

Institutional Source

Beutler Lab

Gene Symbol

Ate1

Ensembl Gene

ENSMUSG00000030850

Gene Name

arginyltransferase 1

Synonyms

MMRRC Submission

045837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129993223-130122099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130121157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 12 (V12E)

Ref Sequence

ENSEMBL: ENSMUSP00000043365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033139] [ENSMUST00000035458] [ENSMUST00000094017] [ENSMUST00000124096] [ENSMUST00000178534] [ENSMUST00000207141] [ENSMUST00000216011]

AlphaFold

Q9Z2A5

Predicted Effect

probably damaging
Transcript: ENSMUST00000033139
AA Change: V12E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850
AA Change: V12E

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

probably damaging
Transcript: ENSMUST00000035458
AA Change: V12E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850
AA Change: V12E

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

probably benign
Transcript: ENSMUST00000094017

SMART Domains

Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850

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

probably benign
Transcript: ENSMUST00000178534

SMART Domains

Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850

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

unknown
Transcript: ENSMUST00000207141
AA Change: V12E

Predicted Effect

probably damaging
Transcript: ENSMUST00000216011
AA Change: V12E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

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

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	G	A	3: 19,682,706 (GRCm39)	P23S	unknown	Het
Abcc6	C	T	7: 45,655,030 (GRCm39)	R487Q	probably damaging	Het
Abl1	A	T	2: 31,680,709 (GRCm39)	T334S	probably damaging	Het
Adam6b	T	C	12: 113,454,962 (GRCm39)	F593S	probably damaging	Het
Alx1	A	T	10: 102,845,053 (GRCm39)	M326K	probably damaging	Het
Ankhd1	A	T	18: 36,758,258 (GRCm39)	D984V	probably damaging	Het
Asb15	A	G	6: 24,562,644 (GRCm39)	N202S	probably benign	Het
Atl2	A	T	17: 80,167,260 (GRCm39)	Y254N	probably damaging	Het
Atp13a5	A	G	16: 29,116,226 (GRCm39)	M630T	probably benign	Het
Atp5po	A	T	16: 91,723,417 (GRCm39)	I124N	possibly damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bicdl1	T	C	5: 115,799,546 (GRCm39)	E181G	probably damaging	Het
Bnipl	C	A	3: 95,151,486 (GRCm39)	W272L	probably damaging	Het
Catsperd	A	T	17: 56,971,072 (GRCm39)	H712L	probably benign	Het
Cilp2	T	C	8: 70,334,997 (GRCm39)	D667G	possibly damaging	Het
Cntn4	A	C	6: 106,500,575 (GRCm39)	K351Q	probably damaging	Het
Coq7	A	T	7: 118,125,111 (GRCm39)	I171N	probably damaging	Het
Csf2rb	T	A	15: 78,228,771 (GRCm39)	F371I	probably benign	Het
Cyp3a13	C	T	5: 137,897,136 (GRCm39)	V393M	possibly damaging	Het
Dennd2a	A	G	6: 39,470,000 (GRCm39)	V564A	probably damaging	Het
Ear14	T	C	14: 51,441,468 (GRCm39)	L108P	probably damaging	Het
Egflam	C	A	15: 7,283,227 (GRCm39)	V277F	probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Faap100	T	C	11: 120,265,089 (GRCm39)	M596V	probably benign	Het
Fbxw15	T	A	9: 109,386,330 (GRCm39)	T270S	possibly damaging	Het
Gabpb1	C	T	2: 126,481,120 (GRCm39)	C342Y	possibly damaging	Het
Gls	A	T	1: 52,251,492 (GRCm39)	C288*	probably null	Het
Grm8	G	T	6: 27,285,786 (GRCm39)	D875E	probably benign	Het
Hdac4	C	A	1: 91,903,387 (GRCm39)	R514L	probably benign	Het
Hps4	T	A	5: 112,518,388 (GRCm39)	N460K	probably benign	Het
Inpp5d	T	C	1: 87,627,394 (GRCm39)	F565S	probably damaging	Het
Kcnh5	C	A	12: 75,023,455 (GRCm39)	V538F	probably damaging	Het
Kcp	T	C	6: 29,497,764 (GRCm39)	N499S	probably damaging	Het
Klk15	T	C	7: 43,588,980 (GRCm39)	L244S	probably benign	Het
Lamp3	A	T	16: 19,518,440 (GRCm39)	S266T	possibly damaging	Het
Lemd3	A	G	10: 120,761,678 (GRCm39)	F863L	probably damaging	Het
Mga	T	A	2: 119,747,838 (GRCm39)	V663D	probably damaging	Het
Naa15	A	G	3: 51,378,904 (GRCm39)		probably null	Het
Ndrg3	C	A	2: 156,770,733 (GRCm39)	G352*	probably null	Het
Nr2f6	G	T	8: 71,828,595 (GRCm39)	N233K	possibly damaging	Het
Or4a79	A	G	2: 89,551,879 (GRCm39)	F192S	probably benign	Het
Plxnb2	T	A	15: 89,041,225 (GRCm39)	M1774L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl23a	G	A	11: 78,073,654 (GRCm39)	R62W	probably benign	Het
Rubcnl	A	G	14: 75,269,530 (GRCm39)	R63G	probably damaging	Het
Ryr1	T	C	7: 28,767,055 (GRCm39)	D2976G	probably damaging	Het
Siglec1	A	G	2: 130,923,258 (GRCm39)	Y496H	probably damaging	Het
Sipa1l2	A	G	8: 126,218,566 (GRCm39)	V257A	possibly damaging	Het
Slc24a4	T	C	12: 102,201,112 (GRCm39)		probably null	Het
Slc4a1ap	T	C	5: 31,684,822 (GRCm39)	S153P	probably damaging	Het
Slc4a4	A	T	5: 89,376,791 (GRCm39)	E1006V	possibly damaging	Het
Svep1	T	G	4: 58,069,251 (GRCm39)	E2845A	possibly damaging	Het
Tlr1	T	C	5: 65,084,079 (GRCm39)	N166S	possibly damaging	Het
Tmem231	C	T	8: 112,644,922 (GRCm39)		probably null	Het
Tsc2	C	A	17: 24,827,089 (GRCm39)	L873F	possibly damaging	Het
Unc13b	T	G	4: 43,259,546 (GRCm39)	S1403A	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,553 (GRCm39)	F236L	probably benign	Het
Vmn2r111	T	C	17: 22,789,714 (GRCm39)	S431G	probably benign	Het
Wdr7	A	T	18: 63,910,860 (GRCm39)	K751*	probably null	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zcchc2	T	C	1: 105,931,895 (GRCm39)	Y366H	probably damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp607a	C	T	7: 27,565,000 (GRCm39)	R56C	possibly 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
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
R8899:Ate1	UTSW	7	129,996,389 (GRCm39)	missense	possibly damaging	0.95
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'- CTCTACACATGCAGCAGGGG -3'
(R):5'- ATTGGTCTCTCCTCAGCCGG -3'

Sequencing Primer
(F):5'- TTCCCGTCTCCCAGAGCAG -3'
(R):5'- TGCCCGCAGTCAACATG -3'

Posted On

2019-11-26