Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Ate1'

566413

Institutional Source

Beutler Lab

Gene Symbol

Ate1

Ensembl Gene

ENSMUSG00000030850

Gene Name

arginyltransferase 1

Synonyms

MMRRC Submission

045322-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129993223-130122099 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 130121661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 11 (K11Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136956 (fasta)

Gene Model

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

AlphaFold

Q9Z2A5

Predicted Effect

probably benign
Transcript: ENSMUST00000033139

SMART Domains

Protein: ENSMUSP00000033139
Gene: ENSMUSG00000030850

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 benign
Transcript: ENSMUST00000035458

SMART Domains

Protein: ENSMUSP00000043365
Gene: ENSMUSG00000030850

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
AA Change: K11Q

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

SMART Domains

Protein: ENSMUSP00000091556
Gene: ENSMUSG00000030850
AA Change: K11Q

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
AA Change: K11Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136956
Gene: ENSMUSG00000030850
AA Change: K11Q

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

probably benign
Transcript: ENSMUST00000207141

Predicted Effect

probably benign
Transcript: ENSMUST00000216011

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,699 (GRCm39)	E51G	possibly damaging	Het
Abca14	C	A	7: 119,888,832 (GRCm39)	C1259*	probably null	Het
Ablim1	T	C	19: 57,204,340 (GRCm39)	E17G	probably benign	Het
Acsf3	G	A	8: 123,540,316 (GRCm39)	V505I	probably benign	Het
Actn1	T	C	12: 80,220,859 (GRCm39)	M650V	probably benign	Het
Adamts4	G	A	1: 171,084,097 (GRCm39)	V525I	probably benign	Het
Adh1	T	C	3: 137,988,569 (GRCm39)	Y181H	probably damaging	Het
Alpl	G	A	4: 137,480,009 (GRCm39)	R168W	probably damaging	Het
Atpaf1	T	A	4: 115,668,288 (GRCm39)	F314L	probably damaging	Het
Baiap3	T	A	17: 25,463,291 (GRCm39)	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C1s2	T	A	6: 124,602,343 (GRCm39)	I623F	probably benign	Het
Card11	T	C	5: 140,886,825 (GRCm39)	D308G	probably damaging	Het
Cul9	C	T	17: 46,851,359 (GRCm39)	V354I	probably benign	Het
Dnah1	A	T	14: 31,020,662 (GRCm39)	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590 (GRCm39)	I4266F	possibly damaging	Het
Ear10	A	T	14: 44,160,377 (GRCm39)	V150D	probably damaging	Het
Elfn2	C	T	15: 78,557,183 (GRCm39)	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792 (GRCm39)	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895 (GRCm39)	H104Q	probably benign	Het
Fcgbp	A	G	7: 27,800,817 (GRCm39)	N1288D	probably benign	Het
Fcgbpl1	A	C	7: 27,839,645 (GRCm39)	D486A	probably benign	Het
Fcrl1	T	C	3: 87,293,088 (GRCm39)		probably null	Het
Fmo2	G	T	1: 162,715,271 (GRCm39)	P117Q	probably benign	Het
Fsip2	A	G	2: 82,810,863 (GRCm39)	K2394R	possibly damaging	Het
Gab1	T	G	8: 81,526,780 (GRCm39)	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,258,721 (GRCm39)	V248A	probably damaging	Het
Gemin6	T	C	17: 80,535,204 (GRCm39)	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Gm3250	T	C	10: 77,618,061 (GRCm39)	T106A	unknown	Het
Gm7356	T	C	17: 14,221,843 (GRCm39)	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,774,689 (GRCm39)	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,636,621 (GRCm39)	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,972,122 (GRCm39)	L716S	probably damaging	Het
Hecw2	A	G	1: 53,953,753 (GRCm39)	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,802,381 (GRCm39)	S151N	probably benign	Het
Il15ra	C	T	2: 11,723,192 (GRCm39)	T72I	probably damaging	Het
Ints1	A	G	5: 139,750,829 (GRCm39)	L858P	probably damaging	Het
Kat2a	C	T	11: 100,601,726 (GRCm39)	V230I	possibly damaging	Het
Kcnq2	A	T	2: 180,730,172 (GRCm39)	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,506,611 (GRCm39)	T229I	possibly damaging	Het
Ly75	T	A	2: 60,160,337 (GRCm39)	I957F	probably damaging	Het
Map3k12	T	A	15: 102,410,601 (GRCm39)	R459W	probably damaging	Het
Mia2	T	A	12: 59,205,155 (GRCm39)		probably null	Het
Mrgprf	A	G	7: 144,861,206 (GRCm39)	I53V	unknown	Het
Mttp	A	G	3: 137,796,964 (GRCm39)	L846P	probably damaging	Het
Myrip	C	T	9: 120,246,207 (GRCm39)	L112F	probably damaging	Het
Nav1	A	G	1: 135,393,597 (GRCm39)	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,458,628 (GRCm39)	D327G	possibly damaging	Het
Notch1	C	T	2: 26,366,387 (GRCm39)	V776I	probably benign	Het
Obsl1	G	T	1: 75,466,161 (GRCm39)	D1522E	probably damaging	Het
Or52s6	T	A	7: 103,091,995 (GRCm39)	M112L	probably benign	Het
Or5b110-ps1	A	T	19: 13,259,517 (GRCm39)	F302I	unknown	Het
Or7e168	T	C	9: 19,719,944 (GRCm39)	M110T	possibly damaging	Het
Or9r3	T	C	10: 129,948,093 (GRCm39)	K189E	probably benign	Het
Pde7a	T	C	3: 19,281,838 (GRCm39)	N471D	probably benign	Het
Pla2r1	T	C	2: 60,360,779 (GRCm39)	H203R	probably benign	Het
Plch2	C	A	4: 155,082,929 (GRCm39)	C573F	probably damaging	Het
Polr1a	G	A	6: 71,918,440 (GRCm39)	R666Q	probably benign	Het
Prepl	T	C	17: 85,388,668 (GRCm39)	N145S	probably benign	Het
Psen2	C	T	1: 180,066,521 (GRCm39)	V139M	probably benign	Het
Ptgdr	A	T	14: 45,096,649 (GRCm39)	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,582,065 (GRCm39)	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,269,747 (GRCm39)	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,811,382 (GRCm39)	M824K	probably benign	Het
Sel1l	T	C	12: 91,815,739 (GRCm39)	T23A	probably benign	Het
Sele	A	G	1: 163,881,437 (GRCm39)	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,381,822 (GRCm39)	N421D	probably damaging	Het
Slc35f3	T	G	8: 127,121,297 (GRCm39)	L386R	probably benign	Het
Stab2	G	A	10: 86,782,084 (GRCm39)	S699L	probably damaging	Het
Synrg	A	T	11: 83,900,207 (GRCm39)	L726F	probably damaging	Het
Syt3	G	A	7: 44,045,343 (GRCm39)	V528M	probably damaging	Het
Szt2	A	G	4: 118,248,446 (GRCm39)	I655T	probably damaging	Het
Tbr1	T	C	2: 61,642,600 (GRCm39)	S622P	probably damaging	Het
Tex36	C	T	7: 133,188,952 (GRCm39)	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,550,399 (GRCm39)	W13*	probably null	Het
Trdn	A	T	10: 33,313,732 (GRCm39)	E500V	probably null	Het
Ugt2b38	A	T	5: 87,559,754 (GRCm39)	N379K	probably damaging	Het
Unc13d	T	C	11: 115,964,876 (GRCm39)	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,462,919 (GRCm39)	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,794,471 (GRCm39)	I733V	probably benign	Het
Zfp870	T	A	17: 33,102,828 (GRCm39)	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,426,503 (GRCm39)	M179L	probably benign	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
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
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'- CTACAAGGCTAGGTGAAGGC -3'
(R):5'- AAACACTGGGTTCCGAGACG -3'

Sequencing Primer
(F):5'- AAGAAGCCATGTCCGCG -3'
(R):5'- TTCCGAGACGCACCCCTG -3'

Posted On

2019-06-26