Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00478:Rad17'

4248

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad17

Ensembl Gene

ENSMUSG00000021635

Gene Name

RAD17 checkpoint clamp loader component

Synonyms

MmRad24, 9430035O09Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00478

Quality Score

Status

Chromosome

Chromosomal Location

100753672-100787559 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100769782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 259 (D259G)

Ref Sequence

ENSEMBL: ENSMUSP00000136292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000177848] [ENSMUST00000226050]

AlphaFold

Q6NXW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022136
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: D259G

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
AAA	128	280	1.1e-4	SMART
low complexity region	342	355	N/A	INTRINSIC
low complexity region	552	567	N/A	INTRINSIC
low complexity region	619	635	N/A	INTRINSIC
low complexity region	669	687	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177848
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: D259G

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
AAA	128	280	1.1e-4	SMART
low complexity region	342	355	N/A	INTRINSIC
low complexity region	552	567	N/A	INTRINSIC
low complexity region	619	635	N/A	INTRINSIC
low complexity region	669	687	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225155

Predicted Effect

probably benign
Transcript: ENSMUST00000226050

Coding Region Coverage

Validation Efficiency

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 highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality with incomplete somite formation, abnormal bracnchial arch, liver, and heart morphology, abnormal neural tube development, and multiple hemorrhages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,774,604 (GRCm39)	T578A	possibly damaging	Het
Ablim1	C	T	19: 57,056,618 (GRCm39)	A359T	probably damaging	Het
Akap9	G	A	5: 4,096,639 (GRCm39)	V2505M	probably damaging	Het
Alpk2	A	T	18: 65,440,297 (GRCm39)	C365*	probably null	Het
C920021L13Rik	A	T	3: 95,794,797 (GRCm39)		probably benign	Het
Chd3	A	T	11: 69,247,888 (GRCm39)	V905E	probably damaging	Het
Cntrl	T	C	2: 35,050,613 (GRCm39)	V1529A	probably damaging	Het
Coro2a	T	C	4: 46,540,455 (GRCm39)	D488G	probably benign	Het
Dpf1	G	T	7: 29,015,981 (GRCm39)		probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Ggh	T	A	4: 20,057,965 (GRCm39)	H175Q	probably benign	Het
Glyat	T	C	19: 12,625,497 (GRCm39)		probably benign	Het
Gpr137c	T	C	14: 45,516,202 (GRCm39)	V312A	probably damaging	Het
Myt1	T	C	2: 181,442,908 (GRCm39)	S466P	probably damaging	Het
Nlrp5	A	T	7: 23,141,213 (GRCm39)	D1078V	probably damaging	Het
Rpp14	G	A	14: 8,083,934 (GRCm38)	G30E	possibly damaging	Het
Uspl1	A	T	5: 149,152,024 (GRCm39)	T1075S	possibly damaging	Het
Vash1	T	A	12: 86,727,042 (GRCm39)	I94N	possibly damaging	Het
Zfp770	T	C	2: 114,027,946 (GRCm39)	E41G	probably damaging	Het

Other mutations in Rad17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Rad17	APN	13	100,766,031 (GRCm39)	missense	probably damaging	0.98
IGL00422:Rad17	APN	13	100,766,033 (GRCm39)	missense	probably benign	0.03
IGL01328:Rad17	APN	13	100,754,311 (GRCm39)	missense	probably benign
IGL01720:Rad17	APN	13	100,759,366 (GRCm39)	missense	possibly damaging	0.51
IGL01874:Rad17	APN	13	100,754,192 (GRCm39)	utr 3 prime	probably benign
IGL02305:Rad17	APN	13	100,770,370 (GRCm39)	critical splice donor site	probably null
IGL02541:Rad17	APN	13	100,769,951 (GRCm39)	splice site	probably benign
R0678:Rad17	UTSW	13	100,781,692 (GRCm39)	missense	possibly damaging	0.73
R1079:Rad17	UTSW	13	100,770,407 (GRCm39)	missense	probably benign	0.01
R1422:Rad17	UTSW	13	100,781,590 (GRCm39)	missense	probably benign	0.18
R1730:Rad17	UTSW	13	100,759,314 (GRCm39)	missense	probably damaging	0.97
R3946:Rad17	UTSW	13	100,759,371 (GRCm39)	missense	possibly damaging	0.70
R4577:Rad17	UTSW	13	100,769,786 (GRCm39)	missense	probably damaging	1.00
R4735:Rad17	UTSW	13	100,755,637 (GRCm39)	missense	probably damaging	0.98
R5023:Rad17	UTSW	13	100,781,571 (GRCm39)	missense	possibly damaging	0.88
R5098:Rad17	UTSW	13	100,754,154 (GRCm39)	makesense	probably null
R5222:Rad17	UTSW	13	100,770,399 (GRCm39)	missense	possibly damaging	0.53
R5511:Rad17	UTSW	13	100,764,157 (GRCm39)	missense	possibly damaging	0.82
R5536:Rad17	UTSW	13	100,767,612 (GRCm39)	missense	probably damaging	1.00
R5887:Rad17	UTSW	13	100,770,369 (GRCm39)	critical splice donor site	probably null
R6041:Rad17	UTSW	13	100,754,274 (GRCm39)	missense	probably benign	0.01
R6173:Rad17	UTSW	13	100,759,389 (GRCm39)	missense	probably benign
R6342:Rad17	UTSW	13	100,755,644 (GRCm39)	missense	probably damaging	1.00
R6465:Rad17	UTSW	13	100,773,588 (GRCm39)	missense	probably benign	0.34
R6730:Rad17	UTSW	13	100,786,253 (GRCm39)	start gained	probably benign
R6890:Rad17	UTSW	13	100,773,592 (GRCm39)	missense	probably benign	0.34
R6947:Rad17	UTSW	13	100,759,383 (GRCm39)	missense	probably damaging	1.00
R7035:Rad17	UTSW	13	100,764,133 (GRCm39)	missense	possibly damaging	0.78
R7113:Rad17	UTSW	13	100,766,025 (GRCm39)	missense	probably benign	0.03
R7408:Rad17	UTSW	13	100,766,019 (GRCm39)	nonsense	probably null
R7553:Rad17	UTSW	13	100,769,794 (GRCm39)	missense	probably damaging	1.00
R7573:Rad17	UTSW	13	100,765,974 (GRCm39)	missense	probably damaging	0.99
R8313:Rad17	UTSW	13	100,761,074 (GRCm39)	missense	probably benign	0.02
R8346:Rad17	UTSW	13	100,781,681 (GRCm39)	missense	possibly damaging	0.77
R8739:Rad17	UTSW	13	100,765,998 (GRCm39)	missense	probably benign
R8874:Rad17	UTSW	13	100,754,327 (GRCm39)	missense	probably benign	0.00
R8921:Rad17	UTSW	13	100,754,192 (GRCm39)	utr 3 prime	probably benign
R8950:Rad17	UTSW	13	100,767,576 (GRCm39)	missense	probably damaging	1.00
R9189:Rad17	UTSW	13	100,773,564 (GRCm39)	missense	probably damaging	1.00
R9367:Rad17	UTSW	13	100,769,720 (GRCm39)	missense	possibly damaging	0.79
R9431:Rad17	UTSW	13	100,780,074 (GRCm39)	missense	probably damaging	1.00
R9447:Rad17	UTSW	13	100,764,119 (GRCm39)	missense	probably damaging	1.00
R9624:Rad17	UTSW	13	100,773,503 (GRCm39)	missense	probably damaging	0.99
RF022:Rad17	UTSW	13	100,773,593 (GRCm39)	missense	probably damaging	1.00
Z1176:Rad17	UTSW	13	100,764,140 (GRCm39)	missense	probably benign	0.05

Posted On

2012-04-20