Mutagenetix > Incidental Mutations

Incidental Mutation 'R0103:Rad9b'

17659

Institutional Source

Beutler Lab

Gene Symbol

Rad9b

Ensembl Gene

ENSMUSG00000038569

Gene Name

RAD9 checkpoint clamp component B

Synonyms

A630082N15Rik

MMRRC Submission

038389-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0103 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

122323223-122354233 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122331527 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 348 (V348E)

Ref Sequence

ENSEMBL: ENSMUSP00000036177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049009] [ENSMUST00000117263]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049009
AA Change: V348E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036177
Gene: ENSMUSG00000038569
AA Change: V348E

Domain	Start	End	E-Value	Type
Pfam:Rad9	14	271	1.8e-91	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117263
AA Change: V292E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113868
Gene: ENSMUSG00000038569
AA Change: V292E

Domain	Start	End	E-Value	Type
Pfam:Rad9	14	271	1.1e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149600

SMART Domains

Protein: ENSMUSP00000120843
Gene: ENSMUSG00000038569

Domain	Start	End	E-Value	Type
Pfam:Rad9	1	85	4.3e-25	PFAM

Meta Mutation Damage Score

0.3500

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 77.8%
20x: 63.0%

Validation Efficiency

91% (89/98)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, decreased forebrain and somite cell proliferation, and increased cellular sensitivity to gamma irradiation and mitomycin C. Mice heterozygous for a knock-out allele exhibit reduced embryonic, fetal, and early postnatal survival. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,273,951	R443S	probably damaging	Het
Adgrl3	A	G	5: 81,792,347		probably benign	Het
Anapc1	T	C	2: 128,680,452		probably benign	Het
Aqr	T	A	2: 114,149,016	I313F	probably damaging	Het
Arfgap3	A	T	15: 83,322,721		probably benign	Het
Asah2	G	T	19: 32,018,977	H374N	probably benign	Het
Ccdc106	C	A	7: 5,057,545	Q35K	probably benign	Het
Ccm2l	G	T	2: 153,067,919	E64*	probably null	Het
Cep85l	A	T	10: 53,278,174	D776E	possibly damaging	Het
Cfap52	T	A	11: 67,925,125	I611F	possibly damaging	Het
Cldn22	C	T	8: 47,824,554	T9M	probably benign	Het
Coa7	T	C	4: 108,338,141	L89P	possibly damaging	Het
Cox7a2l	A	T	17: 83,514,272	Y2N	probably damaging	Het
Cyp27a1	A	C	1: 74,735,915	E301A	probably benign	Het
Dennd4c	A	G	4: 86,812,446	Y860C	probably benign	Het
Dhx58	T	C	11: 100,695,270	T642A	probably damaging	Het
Dlg4	A	G	11: 70,031,193	Y87C	probably damaging	Het
Dnah6	C	T	6: 73,092,172	E2511K	probably damaging	Het
Entpd5	C	A	12: 84,396,943	E9*	probably null	Het
Fbln2	A	C	6: 91,271,550	I1066L	probably benign	Het
Fhl2	C	T	1: 43,153,221	R4H	probably benign	Het
Frmpd1	T	A	4: 45,229,884	I17K	probably damaging	Het
Gbp7	T	A	3: 142,546,538	N627K	probably benign	Het
Gm16432	A	G	1: 178,116,205	N703D	unknown	Het
Gnptab	A	G	10: 88,429,519	Y331C	probably damaging	Het
Hibadh	T	A	6: 52,557,877	M173L	probably benign	Het
Itga1	T	C	13: 115,016,254	I211V	probably benign	Het
Keg1	A	T	19: 12,718,916	I155F	possibly damaging	Het
Ltb	A	G	17: 35,195,040		probably benign	Het
Manea	A	T	4: 26,329,080		probably null	Het
Ms4a4a	T	A	19: 11,392,684	M202K	possibly damaging	Het
Myo3a	T	G	2: 22,544,322		probably benign	Het
Myo9b	C	T	8: 71,323,849		probably benign	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ncor1	G	T	11: 62,343,045	Q444K	possibly damaging	Het
Nek7	A	T	1: 138,544,242	C53*	probably null	Het
Obscn	G	T	11: 59,062,696	Y4044*	probably null	Het
Pcsk6	T	C	7: 65,929,097		probably benign	Het
Phax	T	A	18: 56,562,713	V7D	probably benign	Het
Phxr4	T	C	9: 13,431,791		probably benign	Het
Pkhd1	T	A	1: 20,523,359	D1510V	probably benign	Het
Pkhd1l1	T	C	15: 44,597,141	C4249R	probably benign	Het
Prpf39	T	C	12: 65,055,283	V378A	possibly damaging	Het
Psd2	A	G	18: 36,004,717	N455S	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab4b	A	G	7: 27,174,502	I117T	probably benign	Het
Rcor1	T	C	12: 111,109,778		probably benign	Het
Rhoc	A	T	3: 104,791,991	E32V	possibly damaging	Het
Rnf40	T	G	7: 127,600,571	V925G	probably damaging	Het
Slc25a32	A	T	15: 39,099,897	Y176*	probably null	Het
Slc7a1	T	A	5: 148,352,426	K4*	probably null	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taar4	A	T	10: 23,961,406	N305Y	probably damaging	Het
Tcaf1	G	T	6: 42,686,390	D185E	probably benign	Het
Tmem138	T	C	19: 10,574,952	N62S	possibly damaging	Het
Tnfrsf25	C	T	4: 152,116,948	P65S	possibly damaging	Het
Trp53bp1	A	T	2: 121,236,759	S495R	possibly damaging	Het
Trpv3	T	C	11: 73,293,979	F597S	probably damaging	Het
Ugt2a3	A	G	5: 87,336,718	V149A	possibly damaging	Het
Ush2a	T	G	1: 188,319,070	I251R	possibly damaging	Het
Vamp4	T	C	1: 162,589,539	C114R	possibly damaging	Het
Zc3h13	T	A	14: 75,330,468	V1067E	probably damaging	Het
Zcwpw1	G	A	5: 137,810,113	W274*	probably null	Het

Other mutations in Rad9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Rad9b	APN	5	122344247	missense	probably benign	0.01
IGL02375:Rad9b	APN	5	122333342	missense	possibly damaging	0.71
R0027:Rad9b	UTSW	5	122351723	unclassified	probably benign
R0027:Rad9b	UTSW	5	122351723	unclassified	probably benign
R0103:Rad9b	UTSW	5	122331527	missense	probably damaging	0.99
R0975:Rad9b	UTSW	5	122334257	splice site	probably null
R2006:Rad9b	UTSW	5	122339779	missense	possibly damaging	0.74
R2265:Rad9b	UTSW	5	122351342	missense	probably damaging	0.98
R4818:Rad9b	UTSW	5	122339776	missense	probably damaging	1.00
R5392:Rad9b	UTSW	5	122351578	missense	probably damaging	1.00
R6041:Rad9b	UTSW	5	122351352	missense	probably damaging	0.99
R6109:Rad9b	UTSW	5	122344297	missense	probably damaging	1.00
R6133:Rad9b	UTSW	5	122339768	missense	possibly damaging	0.79
R6566:Rad9b	UTSW	5	122352567	missense	probably damaging	1.00
R6695:Rad9b	UTSW	5	122351691	missense	probably damaging	1.00
R7295:Rad9b	UTSW	5	122334278	missense	possibly damaging	0.95
R7299:Rad9b	UTSW	5	122352614	missense	possibly damaging	0.87
R7301:Rad9b	UTSW	5	122352614	missense	possibly damaging	0.87
R8495:Rad9b	UTSW	5	122333033	splice site	probably null
Z1088:Rad9b	UTSW	5	122333372	missense	possibly damaging	0.90

Posted On

2013-01-31