Mutagenetix > Incidental Mutation

Incidental Mutation 'R6334:Atp23'

510713

Institutional Source

Beutler Lab

Gene Symbol

Atp23

Ensembl Gene

ENSMUSG00000025436

Gene Name

ATP23 metallopeptidase and ATP synthase assembly factor homolog

Synonyms

Xrcc6bp1, 2410012H02Rik, 1110068E08Rik

MMRRC Submission

044488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126704296-126737224 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 126723538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 188 (L188R)

Ref Sequence

ENSEMBL: ENSMUSP00000128382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026504] [ENSMUST00000168520]

AlphaFold

Q9CWQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000026504

SMART Domains

Protein: ENSMUSP00000026504
Gene: ENSMUSG00000025436

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Pfam:Peptidase_M76	49	197	1.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168520
AA Change: L188R

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

SMART Domains

Protein: ENSMUSP00000128382
Gene: ENSMUSG00000025436
AA Change: L188R

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Pfam:Peptidase_M76	50	220	4.8e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220051

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,770,940 (GRCm39)	S141T	probably benign	Het
Afap1l2	A	G	19: 56,906,408 (GRCm39)		probably null	Het
Aox1	C	T	1: 58,346,566 (GRCm39)	Q567*	probably null	Het
Aqp4	T	A	18: 15,526,648 (GRCm39)	M278L	probably benign	Het
Catsperg1	C	T	7: 28,905,782 (GRCm39)	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824 (GRCm39)	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,553,504 (GRCm39)	S6P	unknown	Het
Cfap46	T	C	7: 139,260,747 (GRCm39)	E117G	probably damaging	Het
Cfhr4	A	G	1: 139,701,662 (GRCm39)		probably null	Het
Chek1	A	G	9: 36,625,788 (GRCm39)	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,321,747 (GRCm39)	V35I	probably benign	Het
Cntn4	C	A	6: 106,483,153 (GRCm39)	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,645,753 (GRCm39)	G84V	probably benign	Het
Dnah12	A	T	14: 26,427,989 (GRCm39)	H205L	possibly damaging	Het
Dock1	G	A	7: 134,453,305 (GRCm39)	V845I	probably benign	Het
Drg1	T	C	11: 3,216,292 (GRCm39)	K7E	possibly damaging	Het
Eloa	G	A	4: 135,737,133 (GRCm39)	P488S	probably damaging	Het
Evi5	G	A	5: 107,968,387 (GRCm39)	R187*	probably null	Het
Fam53a	T	A	5: 33,758,219 (GRCm39)	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,235,534 (GRCm39)	K63E	probably damaging	Het
Gast	C	A	11: 100,227,438 (GRCm39)	Q44K	probably benign	Het
Gng10	T	A	4: 59,035,257 (GRCm39)	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,460,474 (GRCm39)	T375I	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hspa14	A	T	2: 3,490,109 (GRCm39)		probably null	Het
Kcna3	T	C	3: 106,943,740 (GRCm39)	M1T	probably null	Het
Kcnj15	T	G	16: 95,097,095 (GRCm39)	L239R	probably damaging	Het
Klhl2	G	T	8: 65,212,842 (GRCm39)	D232E	probably benign	Het
Lamb3	A	T	1: 193,017,782 (GRCm39)	I888F	probably damaging	Het
Lars1	C	A	18: 42,350,551 (GRCm39)	M919I	probably benign	Het
Lfng	T	C	5: 140,598,522 (GRCm39)	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,679,045 (GRCm39)	A16T	probably benign	Het
Mamdc2	A	T	19: 23,341,270 (GRCm39)	I235N	probably damaging	Het
Map9	T	A	3: 82,290,612 (GRCm39)	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,322,604 (GRCm39)	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,807,810 (GRCm39)	K823R	probably null	Het
Nbea	G	T	3: 55,944,570 (GRCm39)	T598K	probably damaging	Het
Nrcam	C	A	12: 44,619,083 (GRCm39)	H877N	probably benign	Het
Nrxn2	T	C	19: 6,581,322 (GRCm39)		probably null	Het
Nwd2	A	T	5: 63,957,596 (GRCm39)	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,164,736 (GRCm39)		probably null	Het
Pkp2	C	T	16: 16,043,933 (GRCm39)	T229I	probably damaging	Het
Plagl2	G	A	2: 153,074,611 (GRCm39)	P97S	probably benign	Het
Plekhh2	C	A	17: 84,874,294 (GRCm39)	N526K	probably benign	Het
Plin4	A	G	17: 56,410,261 (GRCm39)	L1217P	probably benign	Het
Polr3e	T	C	7: 120,527,222 (GRCm39)	S67P	possibly damaging	Het
Postn	A	G	3: 54,292,703 (GRCm39)	K757E	probably benign	Het
Prpf39	T	A	12: 65,089,587 (GRCm39)		probably null	Het
Ptprg	C	T	14: 12,166,832 (GRCm38)	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,707,307 (GRCm39)	A292P	probably damaging	Het
Rpl35	G	T	2: 38,891,754 (GRCm39)	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,149,519 (GRCm39)	V782I	possibly damaging	Het
Syn2	T	A	6: 115,240,875 (GRCm39)	M415K	possibly damaging	Het
Tmem117	A	C	15: 94,909,324 (GRCm39)	I246L	probably benign	Het
Tmem221	A	T	8: 72,011,428 (GRCm39)	V9E	probably damaging	Het
Trav13-5	A	G	14: 54,033,399 (GRCm39)	T103A	probably damaging	Het
Ubxn7	T	A	16: 32,191,007 (GRCm39)		probably null	Het
Vmn2r101	G	T	17: 19,810,112 (GRCm39)	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,344 (GRCm39)	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,761,440 (GRCm39)	N639S	probably benign	Het
Wdr26	T	C	1: 181,030,771 (GRCm39)			Het
Zfp109	T	A	7: 23,928,308 (GRCm39)	Y367F	probably damaging	Het
Zfp143	G	A	7: 109,685,338 (GRCm39)	C389Y	probably damaging	Het
Zfp553	G	T	7: 126,836,064 (GRCm39)		probably null	Het

Other mutations in Atp23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Atp23	APN	10	126,736,969 (GRCm39)	critical splice donor site	probably null
IGL01832:Atp23	APN	10	126,730,214 (GRCm39)	missense	probably damaging	1.00
IGL03097:Atp23	UTSW	10	126,723,556 (GRCm39)	missense	probably damaging	1.00
R2099:Atp23	UTSW	10	126,727,595 (GRCm39)	splice site	probably null
R5114:Atp23	UTSW	10	126,723,403 (GRCm39)	missense	possibly damaging	0.92
R5505:Atp23	UTSW	10	126,723,499 (GRCm39)	missense	probably damaging	0.99
R5652:Atp23	UTSW	10	126,735,494 (GRCm39)	missense	possibly damaging	0.92
R5778:Atp23	UTSW	10	126,735,451 (GRCm39)	missense	probably damaging	1.00
R6230:Atp23	UTSW	10	126,723,431 (GRCm39)	missense	probably benign	0.13
R7537:Atp23	UTSW	10	126,704,594 (GRCm39)	missense	unknown
R8253:Atp23	UTSW	10	126,704,543 (GRCm39)	missense	probably benign	0.43
R8351:Atp23	UTSW	10	126,723,407 (GRCm39)	missense	probably damaging	1.00
R8927:Atp23	UTSW	10	126,723,362 (GRCm39)	makesense	probably null
R8928:Atp23	UTSW	10	126,723,362 (GRCm39)	makesense	probably null
R9773:Atp23	UTSW	10	126,734,763 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATGTTGGAGTAGTAGCGGTCCC -3'
(R):5'- GAGCAAACTGACATGTTCCATG -3'

Sequencing Primer
(F):5'- CCGGTTCTGAAAGTCCCTGTGAG -3'
(R):5'- GCAAACTGACATGTTCCATGGTTAG -3'

Posted On

2018-04-02