Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Rad17'

584573

Institutional Source

Beutler Lab

Gene Symbol

Rad17

Ensembl Gene

ENSMUSG00000021635

Gene Name

RAD17 checkpoint clamp loader component

Synonyms

MmRad24, 9430035O09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100617164-100651051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100633286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 255 (F255Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022136 (fasta)

Gene Model

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

AlphaFold

Q6NXW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022136
AA Change: F255Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: F255Y

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: F255Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: F255Y

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: ENSMUST00000226050

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,999,121	L649P	probably damaging	Het
Acad10	T	C	5: 121,639,255	Y371C	probably damaging	Het
Avp	A	G	2: 130,581,178	V71A	probably damaging	Het
Bhmt	C	T	13: 93,620,081		probably null	Het
Capn15	T	C	17: 25,960,764	E874G	probably damaging	Het
Capn5	A	G	7: 98,124,024	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348	Q292L	probably benign	Het
Cd96	T	G	16: 46,052,021	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,426,366	A153V	probably damaging	Het
Dlk1	G	A	12: 109,454,963	V15I	unknown	Het
Dmbt1	A	G	7: 131,104,867	N1372S	unknown	Het
Dntt	A	T	19: 41,029,487	R17W	probably damaging	Het
Erich3	G	T	3: 154,733,500	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,882	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gm9268	T	G	7: 43,048,023	C835G	probably damaging	Het
Grid2	A	G	6: 64,076,941	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,772,396	G603S	possibly damaging	Het
Hexb	C	T	13: 97,198,173	R30Q	probably benign	Het
Homer3	A	T	8: 70,290,124	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,948,231	E15G	probably benign	Het
Manea	A	T	4: 26,327,986	F352I	probably damaging	Het
Mcf2l	T	A	8: 12,997,268	M210K	probably benign	Het
Morc3	T	C	16: 93,870,936	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,506,147	V894A	possibly damaging	Het
Myh4	T	A	11: 67,256,395	M1622K	probably damaging	Het
Myrf	A	G	19: 10,228,876	F59L	probably benign	Het
Ndst3	G	T	3: 123,557,060		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,050,416		probably null	Het
Nos3	A	T	5: 24,381,717	D986V	possibly damaging	Het
Nrp1	G	A	8: 128,431,987	A252T	probably damaging	Het
Nup205	G	T	6: 35,201,999	R668L	probably damaging	Het
Olfr313	T	A	11: 58,817,060	D17E	probably benign	Het
Olfr477	G	A	7: 107,990,475	V37I	probably benign	Het
Olfr612	T	C	7: 103,539,156	Y26C	probably damaging	Het
Pcdhga1	T	A	18: 37,749,682		probably null	Het
Pck1	A	G	2: 173,157,067	I373V	probably benign	Het
Pde8b	T	C	13: 95,086,750	N227S	probably benign	Het
Pianp	T	G	6: 124,999,251	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2r1	A	T	2: 60,522,899	N239K	possibly damaging	Het
Pls1	T	A	9: 95,787,087	N27I	probably damaging	Het
Prep	T	C	10: 45,158,524	*711Q	probably null	Het
Prkag3	A	G	1: 74,744,735	F330L	probably damaging	Het
Prss56	A	G	1: 87,183,539	D16G	probably benign	Het
Rap1gap2	T	C	11: 74,435,722	E173G	probably damaging	Het
Retreg3	C	T	11: 101,106,390	R88H	possibly damaging	Het
Rhag	G	A	17: 40,828,395	G74R	probably damaging	Het
Rybp	A	G	6: 100,232,259	S201P	possibly damaging	Het
S100a10	G	A	3: 93,564,295	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,360,248	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,336,675	D122G	probably benign	Het
Setdb1	A	G	3: 95,346,765	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,155,588	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,412,269	E266G	probably damaging	Het
Stard9	A	T	2: 120,693,808		probably null	Het
Stpg2	A	G	3: 139,218,337	Y167C	probably damaging	Het
Tex264	T	C	9: 106,659,136	E274G	probably damaging	Het
Tigd2	G	A	6: 59,211,579	S477N	probably benign	Het
Urb1	A	G	16: 90,792,864	L343P	probably damaging	Het
Vars2	A	T	17: 35,664,788	C246S	possibly damaging	Het
Vil1	G	A	1: 74,426,732		probably null	Het
Vmn2r61	C	G	7: 42,266,781	L273V	not run	Het
Zfp37	C	A	4: 62,191,999	G317V	probably damaging	Het
Zfp760	A	G	17: 21,722,891	K349R	possibly damaging	Het
Zyx	A	T	6: 42,350,474	E69V	probably null	Het

Other mutations in Rad17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Rad17	APN	13	100629525	missense	probably benign	0.03
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
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
R8739:Rad17	UTSW	13	100629490	missense	probably benign
R8874:Rad17	UTSW	13	100617819	missense	probably benign	0.00
R8921:Rad17	UTSW	13	100617684	utr 3 prime	probably benign
R8950:Rad17	UTSW	13	100631068	missense	probably damaging	1.00
R9189:Rad17	UTSW	13	100637056	missense	probably damaging	1.00
R9367:Rad17	UTSW	13	100633212	missense	possibly damaging	0.79
R9431:Rad17	UTSW	13	100643566	missense	probably damaging	1.00
R9447:Rad17	UTSW	13	100627611	missense	probably damaging	1.00
RF022:Rad17	UTSW	13	100637085	missense	probably damaging	1.00
Z1176:Rad17	UTSW	13	100627632	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTGGTGCCACAGGGTTGAAAC -3'
(R):5'- TTCTAAGGTAGGTGTCAGTGAAGTC -3'

Sequencing Primer
(F):5'- AAGCCAACCTGGTTTGTAGC -3'
(R):5'- GTGAAGTCCAGTGTTCTAAAACTCCG -3'

Posted On

2019-10-17