Mutagenetix > Incidental Mutation

Incidental Mutation 'R3725:Rad9a'

270763

Institutional Source

Beutler Lab

Gene Symbol

Rad9a

Ensembl Gene

ENSMUSG00000024824

Gene Name

RAD9 checkpoint clamp component A

Synonyms

Rad9

MMRRC Submission

040716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4245195-4251661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4247694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 179 (R179C)

Ref Sequence

ENSEMBL: ENSMUSP00000025740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025740] [ENSMUST00000046094]

AlphaFold

Q9Z0F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025740
AA Change: R179C

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

SMART Domains

Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824
AA Change: R179C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046094

SMART Domains

Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385

Domain	Start	End	E-Value	Type
PP2Ac	30	300	1.4e-164	SMART

Meta Mutation Damage Score

0.8371

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,563,781 (GRCm39)	R740S	possibly damaging	Het
Adamtsl3	A	C	7: 82,261,612 (GRCm39)	D1676A	possibly damaging	Het
Atp6v1a	A	G	16: 43,922,120 (GRCm39)		probably benign	Het
Camsap3	T	C	8: 3,653,785 (GRCm39)	L485P	probably damaging	Het
Ccdc81	A	T	7: 89,515,838 (GRCm39)	F614I	possibly damaging	Het
Cdk5rap2	C	A	4: 70,153,674 (GRCm39)	K1716N	possibly damaging	Het
Cfap47	T	A	X: 78,553,621 (GRCm39)	T285S	probably damaging	Het
Cfh	T	C	1: 140,014,234 (GRCm39)	M1197V	probably damaging	Het
Cyp3a11	A	G	5: 145,802,810 (GRCm39)	F228L	probably benign	Het
Ddx24	A	G	12: 103,383,864 (GRCm39)	M575T	probably benign	Het
Dhx36	A	T	3: 62,395,643 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,301,053 (GRCm39)	I1554L	probably damaging	Het
Dsp	A	G	13: 38,378,665 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,381,594 (GRCm39)	S2181G	probably benign	Het
Epg5	T	C	18: 78,060,894 (GRCm39)	I1959T	probably benign	Het
Fam135a	T	A	1: 24,096,515 (GRCm39)	K77*	probably null	Het
Fam209	T	C	2: 172,315,915 (GRCm39)	S97P	probably benign	Het
Fbxo11	A	G	17: 88,316,714 (GRCm39)	V323A	probably benign	Het
Fzd5	A	G	1: 64,775,498 (GRCm39)	S88P	probably damaging	Het
Galnt12	A	T	4: 47,104,140 (GRCm39)	T133S	probably damaging	Het
Gja8	A	G	3: 96,827,161 (GRCm39)	L167P	probably damaging	Het
Gm8730	T	C	8: 103,591,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,737,939 (GRCm39)	D247G	probably benign	Het
Iqcg	A	G	16: 32,840,909 (GRCm39)		probably null	Het
Lamb1	C	T	12: 31,371,074 (GRCm39)	A1375V	probably null	Het
Mlip	A	G	9: 77,097,662 (GRCm39)	S282P	probably damaging	Het
Nfxl1	A	T	5: 72,674,405 (GRCm39)	D831E	probably damaging	Het
Nipbl	T	C	15: 8,325,145 (GRCm39)	D2506G	probably damaging	Het
Or6c212	A	T	10: 129,558,984 (GRCm39)	V143D	probably damaging	Het
Or7a39	T	A	10: 78,715,766 (GRCm39)	Y253*	probably null	Het
Pcdhb9	T	C	18: 37,534,654 (GRCm39)	L216P	possibly damaging	Het
Pigc	G	A	1: 161,798,860 (GRCm39)	G281R	possibly damaging	Het
Polr3g	C	T	13: 81,842,754 (GRCm39)	R87H	probably damaging	Het
Ppfia4	T	C	1: 134,241,449 (GRCm39)	D502G	probably benign	Het
Psg18	T	A	7: 18,088,748 (GRCm39)		probably benign	Het
Rxra	A	G	2: 27,644,289 (GRCm39)	D327G	probably damaging	Het
Samd7	T	C	3: 30,805,283 (GRCm39)	V22A	possibly damaging	Het
Slc22a29	A	T	19: 8,195,973 (GRCm39)	V22D	possibly damaging	Het
Slmap	C	A	14: 26,148,397 (GRCm39)	R671S	probably damaging	Het
Smarcal1	T	C	1: 72,665,755 (GRCm39)	F751S	possibly damaging	Het
Smarcb1	T	A	10: 75,752,620 (GRCm39)	K73N	probably benign	Het
Sptssa	T	C	12: 54,703,180 (GRCm39)	E30G	probably damaging	Het
Stpg2	A	G	3: 139,023,238 (GRCm39)	K418R	probably benign	Het
Tasor2	T	C	13: 3,640,538 (GRCm39)	I200V	probably benign	Het
Tmem19	A	G	10: 115,195,675 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmod1	T	C	4: 46,097,026 (GRCm39)	V273A	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Uggt1	A	T	1: 36,221,588 (GRCm39)	L43*	probably null	Het
Vmn1r205	A	T	13: 22,776,671 (GRCm39)	F144I	probably damaging	Het
Vmn2r54	G	A	7: 12,366,223 (GRCm39)	T237I	probably benign	Het
Vmn2r7	A	T	3: 64,632,412 (GRCm39)	F17I	possibly damaging	Het
Vpreb3	G	A	10: 75,779,125 (GRCm39)		probably null	Het
Vps13d	T	A	4: 144,842,218 (GRCm39)		probably benign	Het
Zkscan5	A	T	5: 145,157,723 (GRCm39)	R742W	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
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
R4695: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'- AGCTGCTGGAAGTCCTCATC -3'
(R):5'- CTTAAGCTTTTGACCAGGCAAGTAAC -3'

Sequencing Primer
(F):5'- TGGAAGTCCTCATCCCCAATG -3'
(R):5'- TTTAATCCCAGCACTCGGGAG -3'

Posted On

2015-03-18