Mutagenetix > Incidental Mutation

Incidental Mutation 'R4695:Rad9a'

355666

Institutional Source

Beutler Lab

Gene Symbol

Rad9a

Ensembl Gene

ENSMUSG00000024824

Gene Name

RAD9 checkpoint clamp component A

Synonyms

Rad9

MMRRC Submission

042016-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4245195-4251661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4250560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 85 (R85C)

Ref Sequence

ENSEMBL: ENSMUSP00000025740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025740]

AlphaFold

Q9Z0F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025740
AA Change: R85C

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

SMART Domains

Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824
AA Change: R85C

Domain	Start	End	E-Value	Type
Pfam:Rad9	13	265	6.6e-101	PFAM

Meta Mutation Damage Score

0.3666

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a knock-out allele are consistently smaller and display abnormal embryonic development and midgestational lethality associated with increased apoptosis and reduced cellular proliferation. Mutant mouse embryonic fibroblasts are not viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,750,713 (GRCm39)	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,875,962 (GRCm39)	H513Q	possibly damaging	Het
Afg2a	T	G	3: 37,512,474 (GRCm39)	F713C	probably damaging	Het
Ahctf1	A	G	1: 179,580,619 (GRCm39)	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,146,877 (GRCm39)	R615S	probably damaging	Het
Arhgap45	A	C	10: 79,861,364 (GRCm39)	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,351,208 (GRCm39)	T108A	probably benign	Het
Blm	T	A	7: 80,143,976 (GRCm39)	D821V	probably damaging	Het
C3	T	A	17: 57,528,057 (GRCm39)	I721L	probably benign	Het
Ccdc13	A	T	9: 121,649,826 (GRCm39)	V207E	probably damaging	Het
Ccndbp1	C	T	2: 120,845,208 (GRCm39)		probably benign	Het
Cd180	A	C	13: 102,842,268 (GRCm39)	Q438P	probably benign	Het
Cd248	C	T	19: 5,118,473 (GRCm39)	T107M	probably damaging	Het
Cdan1	G	A	2: 120,558,864 (GRCm39)	R445C	probably damaging	Het
Cic	C	A	7: 24,973,013 (GRCm39)	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,865,742 (GRCm39)	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,501,092 (GRCm39)	C347S	probably benign	Het
Dhx30	A	T	9: 109,914,356 (GRCm39)	F974I	probably damaging	Het
Dlec1	A	T	9: 118,972,221 (GRCm39)	T1414S	probably benign	Het
Dlg2	C	A	7: 92,087,170 (GRCm39)		probably null	Het
Dynlt5	T	A	4: 102,861,426 (GRCm39)	I136K	probably damaging	Het
Dzip1l	T	A	9: 99,529,258 (GRCm39)	M329K	probably benign	Het
Dzip3	A	T	16: 48,771,924 (GRCm39)	L582I	probably damaging	Het
Emilin2	T	C	17: 71,559,773 (GRCm39)	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622 (GRCm39)		probably null	Het
Fbxw22	A	G	9: 109,207,939 (GRCm39)	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,428 (GRCm39)	N245K	probably damaging	Het
Fnip1	T	A	11: 54,390,245 (GRCm39)	I380N	probably damaging	Het
Gbf1	C	T	19: 46,247,606 (GRCm39)	R181*	probably null	Het
Igkv6-17	T	A	6: 70,348,486 (GRCm39)	F12I	probably benign	Het
Itln1	C	A	1: 171,358,645 (GRCm39)	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,293,660 (GRCm39)		probably null	Het
LTO1	T	C	7: 144,482,715 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,403,071 (GRCm39)	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,355,305 (GRCm39)	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,779,489 (GRCm39)		noncoding transcript	Het
Mrps9	T	A	1: 42,901,675 (GRCm39)	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,456,097 (GRCm39)	Y161H	probably damaging	Het
Myh9	T	A	15: 77,653,053 (GRCm39)	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,535,306 (GRCm39)		probably null	Het
Nat9	T	A	11: 115,075,416 (GRCm39)	Q75L	probably benign	Het
Nop2	T	C	6: 125,121,519 (GRCm39)	V767A	probably benign	Het
Ntrk2	A	G	13: 59,274,307 (GRCm39)	K728E	probably damaging	Het
Or51e1	T	G	7: 102,358,764 (GRCm39)	C99W	probably damaging	Het
Or5p72	G	A	7: 108,022,196 (GRCm39)	M139I	probably benign	Het
Or7g21	T	A	9: 19,032,306 (GRCm39)	H15Q	probably null	Het
Pcdhgb2	A	G	18: 37,825,375 (GRCm39)	T789A	probably benign	Het
Pcyt2	T	C	11: 120,502,000 (GRCm39)	D321G	probably benign	Het
Rbbp8	A	T	18: 11,854,839 (GRCm39)	K355*	probably null	Het
Rhag	T	C	17: 41,147,358 (GRCm39)	Y407H	probably damaging	Het
Robo4	G	A	9: 37,314,495 (GRCm39)	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922 (GRCm39)	N97K	probably benign	Het
Slc45a4	A	G	15: 73,453,924 (GRCm39)	I691T	possibly damaging	Het
Slc9a9	A	T	9: 94,818,502 (GRCm39)		probably benign	Het
Stard13	A	G	5: 150,984,280 (GRCm39)	F619L	probably benign	Het
Stt3b	A	T	9: 115,083,862 (GRCm39)	V438E	probably damaging	Het
Tacr3	C	T	3: 134,535,182 (GRCm39)	T50I	probably benign	Het
Tacr3	G	T	3: 134,635,690 (GRCm39)	C298F	probably damaging	Het
Taok3	C	T	5: 117,366,131 (GRCm39)	T394M	probably benign	Het
Tgfb1i1	A	G	7: 127,848,348 (GRCm39)	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,300,574 (GRCm39)	V251L	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Top3a	A	G	11: 60,633,238 (GRCm39)	S953P	probably benign	Het
Trappc10	T	C	10: 78,033,697 (GRCm39)	K957E	probably damaging	Het
Ttn	T	A	2: 76,565,668 (GRCm39)	E28228V	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vdr	A	T	15: 97,756,801 (GRCm39)		probably null	Het
Zfp42	A	T	8: 43,749,168 (GRCm39)	L111Q	probably damaging	Het

Other mutations in Rad9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Rad9a	APN	19	4,251,336 (GRCm39)	missense	probably benign	0.00
R0690:Rad9a	UTSW	19	4,247,359 (GRCm39)	splice site	probably null
R1167:Rad9a	UTSW	19	4,247,501 (GRCm39)	missense	possibly damaging	0.91
R1823:Rad9a	UTSW	19	4,247,241 (GRCm39)	missense	probably damaging	1.00
R3725:Rad9a	UTSW	19	4,247,694 (GRCm39)	missense	probably damaging	1.00
R4468:Rad9a	UTSW	19	4,250,293 (GRCm39)	missense	probably benign	0.08
R4694:Rad9a	UTSW	19	4,250,560 (GRCm39)	missense	probably damaging	1.00
R4742:Rad9a	UTSW	19	4,250,560 (GRCm39)	missense	probably damaging	1.00
R4743:Rad9a	UTSW	19	4,250,560 (GRCm39)	missense	probably damaging	1.00
R4765:Rad9a	UTSW	19	4,250,488 (GRCm39)	missense	probably benign	0.28
R4824:Rad9a	UTSW	19	4,250,536 (GRCm39)	missense	probably benign
R4902:Rad9a	UTSW	19	4,251,552 (GRCm39)	start gained	probably benign
R5037:Rad9a	UTSW	19	4,247,173 (GRCm39)	missense	probably benign	0.00
R5346:Rad9a	UTSW	19	4,251,517 (GRCm39)	splice site	probably null
R7532:Rad9a	UTSW	19	4,251,522 (GRCm39)	start gained	probably benign
R9490:Rad9a	UTSW	19	4,247,547 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGGTCTCAGGGCTTGGC -3'
(R):5'- GGGCTATCTAAGATCTGTGGAGAG -3'

Sequencing Primer
(F):5'- TCTCAGGGCTTGGCAACCTC -3'
(R):5'- AAAAGGTTAGTGGCCCTTCC -3'

Posted On

2015-10-21