Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Rad17'

4249

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

100617164-100651051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100629525 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 365 (I365K)

Ref Sequence

ENSEMBL: ENSMUSP00000136292 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022136
AA Change: I365K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: I365K

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 benign
Transcript: ENSMUST00000177848
AA Change: I365K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: I365K

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

noncoding transcript
Transcript: ENSMUST00000225428

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cckar	T	A	5: 53,699,829	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Cln8	G	A	8: 14,896,637	C217Y	probably benign	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dip2a	T	A	10: 76,313,236	M194L	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
Gnpat	A	G	8: 124,885,013	E513G	probably damaging	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Pkn3	G	A	2: 30,081,104	A228T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Ttc27	T	A	17: 74,780,816	C459S	probably damaging	Het
Washc2	A	G	6: 116,256,676	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Rad17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Rad17	APN	13	100629523	missense	probably damaging	0.98
IGL00478:Rad17	APN	13	100633274	missense	probably damaging	1.00
IGL01328:Rad17	APN	13	100617803	missense	probably benign
IGL01720:Rad17	APN	13	100622858	missense	possibly damaging	0.51
IGL01874:Rad17	APN	13	100617684	utr 3 prime	probably benign
IGL02305:Rad17	APN	13	100633862	critical splice donor site	probably null
IGL02541:Rad17	APN	13	100633443	splice site	probably benign
R0678:Rad17	UTSW	13	100645184	missense	possibly damaging	0.73
R1079:Rad17	UTSW	13	100633899	missense	probably benign	0.01
R1422:Rad17	UTSW	13	100645082	missense	probably benign	0.18
R1730:Rad17	UTSW	13	100622806	missense	probably damaging	0.97
R3946:Rad17	UTSW	13	100622863	missense	possibly damaging	0.70
R4577:Rad17	UTSW	13	100633278	missense	probably damaging	1.00
R4735:Rad17	UTSW	13	100619129	missense	probably damaging	0.98
R5023:Rad17	UTSW	13	100645063	missense	possibly damaging	0.88
R5098:Rad17	UTSW	13	100617646	makesense	probably null
R5222:Rad17	UTSW	13	100633891	missense	possibly damaging	0.53
R5511:Rad17	UTSW	13	100627649	missense	possibly damaging	0.82
R5536:Rad17	UTSW	13	100631104	missense	probably damaging	1.00
R5887:Rad17	UTSW	13	100633861	critical splice donor site	probably null
R6041:Rad17	UTSW	13	100617766	missense	probably benign	0.01
R6173:Rad17	UTSW	13	100622881	missense	probably benign
R6342:Rad17	UTSW	13	100619136	missense	probably damaging	1.00
R6465:Rad17	UTSW	13	100637080	missense	probably benign	0.34
R6730:Rad17	UTSW	13	100649745	start gained	probably benign
R6890:Rad17	UTSW	13	100637084	missense	probably benign	0.34
R6947:Rad17	UTSW	13	100622875	missense	probably damaging	1.00
R7035:Rad17	UTSW	13	100627625	missense	possibly damaging	0.78
R7113:Rad17	UTSW	13	100629517	missense	probably benign	0.03
R7408:Rad17	UTSW	13	100629511	nonsense	probably null
R7553:Rad17	UTSW	13	100633286	missense	probably damaging	1.00
R7573:Rad17	UTSW	13	100629466	missense	probably damaging	0.99
R8313:Rad17	UTSW	13	100624566	missense	probably benign	0.02
R8346:Rad17	UTSW	13	100645173	missense	possibly damaging	0.77
RF022:Rad17	UTSW	13	100637085	missense	probably damaging	1.00
Z1176:Rad17	UTSW	13	100627632	missense	probably benign	0.05

Posted On

2012-04-20