Mutagenetix > Incidental Mutation

Incidental Mutation 'R7408:Rad17'

574870

Institutional Source

Beutler Lab

Gene Symbol

Rad17

Ensembl Gene

ENSMUSG00000021635

Gene Name

RAD17 checkpoint clamp loader component

Synonyms

MmRad24, 9430035O09Rik

MMRRC Submission

045489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100753672-100787559 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 100766019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 370 (Q370*)

Ref Sequence

ENSEMBL: ENSMUSP00000022136 (fasta)

Gene Model

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

AlphaFold

Q6NXW6

Predicted Effect

probably null
Transcript: ENSMUST00000022136
AA Change: Q370*

SMART Domains

Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635
AA Change: Q370*

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 null
Transcript: ENSMUST00000177848
AA Change: Q370*

SMART Domains

Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635
AA Change: Q370*

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,860,030 (GRCm39)	F299S	probably damaging	Het
Arhgap32	A	T	9: 32,157,220 (GRCm39)	E72D	probably benign	Het
Arid1a	G	T	4: 133,408,391 (GRCm39)	Q1654K	unknown	Het
Atp6v1f	A	C	6: 29,470,194 (GRCm39)	H96P	probably damaging	Het
Cast	A	G	13: 74,887,960 (GRCm39)	V161A	probably damaging	Het
Ccdc186	A	T	19: 56,796,610 (GRCm39)	C320S	probably damaging	Het
Cgn	T	A	3: 94,670,362 (GRCm39)	K1031*	probably null	Het
Cnot10	T	C	9: 114,460,894 (GRCm39)	N92S	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cstf2t	T	C	19: 31,060,593 (GRCm39)	V43A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,739 (GRCm39)	L547P	probably damaging	Het
Dennd1a	G	A	2: 37,742,184 (GRCm39)		probably null	Het
Dtnb	T	A	12: 3,694,272 (GRCm39)		probably null	Het
Entpd1	A	G	19: 40,727,309 (GRCm39)	N486D	possibly damaging	Het
Fes	G	A	7: 80,028,410 (GRCm39)	R736C	probably damaging	Het
Galr1	T	G	18: 82,411,990 (GRCm39)	Y292S	probably damaging	Het
Gda	T	A	19: 21,405,988 (GRCm39)	D80V	probably damaging	Het
Ghr	A	G	15: 3,377,054 (GRCm39)	C56R	probably benign	Het
Golgb1	A	G	16: 36,718,909 (GRCm39)	T313A	probably damaging	Het
Gpaa1	A	T	15: 76,217,193 (GRCm39)	D236V	probably damaging	Het
Gsdmc	A	G	15: 63,676,315 (GRCm39)	S43P	probably benign	Het
Gsdmd	A	G	15: 75,738,202 (GRCm39)	E295G	probably damaging	Het
Htatip2	A	G	7: 49,409,534 (GRCm39)	K96R	probably benign	Het
Insm1	T	A	2: 146,064,711 (GRCm39)	F176I	probably benign	Het
Itih1	T	C	14: 30,665,117 (GRCm39)	E36G	probably benign	Het
Jak1	A	G	4: 101,032,379 (GRCm39)	V409A	probably damaging	Het
Knl1	A	G	2: 118,901,073 (GRCm39)	I925V	possibly damaging	Het
Lcmt2	A	G	2: 120,969,185 (GRCm39)	S413P	probably benign	Het
Lmo7	T	C	14: 102,118,389 (GRCm39)	S205P	probably damaging	Het
Lrch3	C	A	16: 32,807,113 (GRCm39)	S462*	probably null	Het
Lrrtm2	T	C	18: 35,346,688 (GRCm39)	I205V	possibly damaging	Het
Mark3	T	G	12: 111,600,223 (GRCm39)	N479K	probably damaging	Het
Mrpl19	C	T	6: 81,942,793 (GRCm39)	G39D	possibly damaging	Het
Msh4	A	G	3: 153,582,382 (GRCm39)	Y497H	probably benign	Het
Msl2	T	A	9: 100,979,316 (GRCm39)	D563E	probably benign	Het
Mta1	G	A	12: 113,095,088 (GRCm39)		probably null	Het
Nalcn	T	A	14: 123,529,272 (GRCm39)	Q1401L	probably benign	Het
Ncapg	T	C	5: 45,853,135 (GRCm39)	L867P	probably benign	Het
Nkapl	T	C	13: 21,652,013 (GRCm39)	D200G	unknown	Het
Nos1	A	C	5: 118,005,583 (GRCm39)	E101A	probably damaging	Het
Npat	T	C	9: 53,481,216 (GRCm39)	S1008P	probably damaging	Het
Ntng1	A	G	3: 109,760,398 (GRCm39)	I358T	probably benign	Het
Or11h6	A	G	14: 50,879,852 (GRCm39)	E32G	probably benign	Het
Or13p4	C	T	4: 118,546,859 (GRCm39)	M263I	probably damaging	Het
Or2d2b	A	G	7: 106,705,274 (GRCm39)	S265P	probably benign	Het
Or4b1	T	A	2: 89,980,188 (GRCm39)	H54L	probably benign	Het
Or6c88	A	G	10: 129,406,493 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,680,222 (GRCm39)	D948G	probably damaging	Het
Pkd1l2	A	T	8: 117,755,218 (GRCm39)	I1660N	possibly damaging	Het
Pkp2	T	A	16: 16,079,537 (GRCm39)	Y540N	possibly damaging	Het
Pkp4	T	C	2: 59,142,110 (GRCm39)	L471P	probably damaging	Het
Plekhm3	A	T	1: 64,977,143 (GRCm39)	M109K	probably benign	Het
Plekhn1	T	C	4: 156,318,418 (GRCm39)	N68S	probably benign	Het
Pramel7	T	A	2: 87,321,189 (GRCm39)	D282V	possibly damaging	Het
Pxdn	T	C	12: 30,040,944 (GRCm39)	Y407H	probably benign	Het
Rab3ip	T	C	10: 116,773,546 (GRCm39)	D89G	possibly damaging	Het
Robo4	T	C	9: 37,322,277 (GRCm39)	C751R	probably benign	Het
Sez6	A	G	11: 77,844,356 (GRCm39)	T60A	probably damaging	Het
Socs4	A	G	14: 47,527,296 (GRCm39)	H77R	probably benign	Het
Srrm3	T	A	5: 135,881,060 (GRCm39)	M120K	probably benign	Het
Steap4	A	T	5: 8,028,453 (GRCm39)	I344F	probably benign	Het
Stk36	T	A	1: 74,672,725 (GRCm39)	F989Y	probably damaging	Het
Toporsl	A	T	4: 52,612,108 (GRCm39)	Q667L	probably benign	Het
Tspan17	T	C	13: 54,937,466 (GRCm39)	F20S	probably benign	Het
Tubgcp3	G	A	8: 12,711,359 (GRCm39)	Q65*	probably null	Het
Ush2a	A	T	1: 188,465,726 (GRCm39)	I2765F	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	A	G	14: 32,800,264 (GRCm39)	V1954A		Het
Xrn2	T	A	2: 146,884,017 (GRCm39)		probably null	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
IGL00478:Rad17	APN	13	100,769,782 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGCTATGCAGTATCTGGTG -3'
(R):5'- GGCCATGCTAAGTTACTGCTTG -3'

Sequencing Primer
(F):5'- GGGGTTCCTAGCTTCTTCTTATAAC -3'
(R):5'- GAGCATACTGTAGCTGCCTTCAG -3'

Posted On

2019-10-07