Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Rad9a'

101223

Institutional Source

Beutler Lab

Gene Symbol

Rad9a

Ensembl Gene

ENSMUSG00000024824

Gene Name

RAD9 checkpoint clamp component A

Synonyms

Rad9

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4245195-4251661 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4247501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 215 (V215A)

Ref Sequence

ENSEMBL: ENSMUSP00000025740 (fasta)

Gene Model

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

AlphaFold

Q9Z0F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025740
AA Change: V215A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824
AA Change: V215A

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,003 (GRCm39)	D315V	probably damaging	Het
Acr	T	C	15: 89,458,177 (GRCm39)	I286T	probably damaging	Het
Adnp	A	G	2: 168,026,420 (GRCm39)	S292P	probably benign	Het
Apol6	T	A	15: 76,931,308 (GRCm39)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,065,264 (GRCm39)		probably null	Het
Bfar	A	G	16: 13,516,758 (GRCm39)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,898,463 (GRCm39)	S470C	probably damaging	Het
Cep135	A	G	5: 76,772,484 (GRCm39)	E623G	probably damaging	Het
Clcn3	A	G	8: 61,375,822 (GRCm39)		probably null	Het
Clptm1	A	T	7: 19,368,136 (GRCm39)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,561,312 (GRCm39)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,553,701 (GRCm39)		probably null	Het
Dst	A	G	1: 34,262,939 (GRCm39)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,245,795 (GRCm39)	T238A	probably benign	Het
Elmo1	T	C	13: 20,369,625 (GRCm39)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,606,079 (GRCm39)	S225P	possibly damaging	Het
Fem1al	C	T	11: 29,773,567 (GRCm39)	R630H	probably damaging	Het
Fes	A	T	7: 80,032,857 (GRCm39)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,249,892 (GRCm39)	N544K	probably damaging	Het
Gga1	C	G	15: 78,772,370 (GRCm39)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm4884	A	T	7: 40,693,336 (GRCm39)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,727,581 (GRCm39)		probably benign	Het
Ift140	T	G	17: 25,254,719 (GRCm39)	S131A	probably benign	Het
Ipo4	A	G	14: 55,872,477 (GRCm39)	L88P	probably damaging	Het
Itgal	G	A	7: 126,900,111 (GRCm39)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,472,259 (GRCm39)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,285,337 (GRCm39)	M521L	probably benign	Het
Myocd	G	T	11: 65,087,203 (GRCm39)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,696,302 (GRCm39)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,341,719 (GRCm39)	D2011G	possibly damaging	Het
Ola1	A	G	2: 72,927,538 (GRCm39)	V347A	probably damaging	Het
Or13p5	C	A	4: 118,591,829 (GRCm39)	F34L	possibly damaging	Het
Or6c75	G	A	10: 129,337,019 (GRCm39)	V89I	probably benign	Het
Or8u10	A	G	2: 85,915,635 (GRCm39)	V162A	probably benign	Het
Oxct2b	A	G	4: 123,011,378 (GRCm39)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,022,552 (GRCm39)	R312G	probably damaging	Het
Pbrm1	A	G	14: 30,772,099 (GRCm39)	N398D	probably damaging	Het
Pdc	T	C	1: 150,208,996 (GRCm39)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pop4	A	T	7: 37,962,693 (GRCm39)	D190E	probably benign	Het
Prb1c	G	A	6: 132,338,553 (GRCm39)	P222S	unknown	Het
R3hdm4	A	G	10: 79,747,907 (GRCm39)		probably null	Het
Rab1a	C	A	11: 20,173,172 (GRCm39)	T91K	possibly damaging	Het
Rassf3	A	G	10: 121,252,159 (GRCm39)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,243,458 (GRCm39)	T270M	probably damaging	Het
Rho	A	G	6: 115,912,384 (GRCm39)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,366,947 (GRCm39)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,335,203 (GRCm39)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,833,450 (GRCm39)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,674,999 (GRCm39)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 109,963,756 (GRCm39)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,900,451 (GRCm39)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,058,918 (GRCm39)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,423,791 (GRCm39)	E40G	probably benign	Het
Slc8a2	A	G	7: 15,891,312 (GRCm39)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,982,270 (GRCm39)	Q384L	probably damaging	Het
Steap4	A	C	5: 8,026,520 (GRCm39)	K161T	probably benign	Het
Taf10	T	C	7: 105,392,438 (GRCm39)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,845,455 (GRCm39)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,755,511 (GRCm39)	K162N	probably benign	Het
Tmem147	A	G	7: 30,427,221 (GRCm39)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,755,323 (GRCm39)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,141,374 (GRCm39)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 34,131,929 (GRCm39)	S13P	probably damaging	Het
Usp49	A	G	17: 47,983,151 (GRCm39)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,639,078 (GRCm39)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,450,954 (GRCm39)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,951,042 (GRCm39)	L134F	probably benign	Het
Wdfy3	T	A	5: 102,023,797 (GRCm39)	I2437F	probably benign	Het
Wwc2	A	T	8: 48,311,814 (GRCm39)	L783*	probably null	Het
Zer1	C	T	2: 29,998,258 (GRCm39)	R351H	probably benign	Het
Zfp715	A	T	7: 42,947,861 (GRCm39)	F700I	possibly damaging	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	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
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
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

Posted On

2014-01-15