Mutagenetix > Incidental Mutations

Incidental Mutation 'R5392:Rad9b'

425898

Institutional Source

Beutler Lab

Gene Symbol

Rad9b

Ensembl Gene

ENSMUSG00000038569

Gene Name

RAD9 checkpoint clamp component B

Synonyms

A630082N15Rik

MMRRC Submission

042964-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5392 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122323223-122354233 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122351578 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 25 (C25S)

Ref Sequence

ENSEMBL: ENSMUSP00000117334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049009] [ENSMUST00000111729] [ENSMUST00000117263] [ENSMUST00000117868] [ENSMUST00000118765] [ENSMUST00000118830] [ENSMUST00000144268] [ENSMUST00000145821] [ENSMUST00000154686] [ENSMUST00000155671]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049009
AA Change: C81S

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

SMART Domains

Protein: ENSMUSP00000036177
Gene: ENSMUSG00000038569
AA Change: C81S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111729

SMART Domains

Protein: ENSMUSP00000107358
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117263
AA Change: C25S

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

SMART Domains

Protein: ENSMUSP00000113868
Gene: ENSMUSG00000038569
AA Change: C25S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000117868

SMART Domains

Protein: ENSMUSP00000113345
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	1	143	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118765

SMART Domains

Protein: ENSMUSP00000112579
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
PDB:1W24\|A	1	65	7e-42	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000118830

SMART Domains

Protein: ENSMUSP00000113525
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	6	162	1.6e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132785

Predicted Effect

probably damaging
Transcript: ENSMUST00000144268
AA Change: C25S

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

SMART Domains

Protein: ENSMUSP00000117334
Gene: ENSMUSG00000038569
AA Change: C25S

Domain	Start	End	E-Value	Type
Pfam:Rad9	1	64	6.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145821

SMART Domains

Protein: ENSMUSP00000123593
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	11	124	1e-13	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

Predicted Effect

probably benign
Transcript: ENSMUST00000154686

Predicted Effect

probably benign
Transcript: ENSMUST00000155671

SMART Domains

Protein: ENSMUSP00000121020
Gene: ENSMUSG00000029462

Domain	Start	End	E-Value	Type
Pfam:Metallophos_2	1	158	3.4e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200653

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 128,010,168		probably null	Het
Acyp1	T	C	12: 85,278,985		probably benign	Het
Ces1b	G	A	8: 93,071,962	R199C	probably damaging	Het
Col6a3	C	A	1: 90,801,295	R1308L	probably benign	Het
Cpa5	C	T	6: 30,630,830	Q364*	probably null	Het
Cyth4	T	A	15: 78,606,985	L88Q	probably damaging	Het
Dock7	A	G	4: 99,008,006	V59A	probably damaging	Het
Drd2	A	G	9: 49,395,628	N5D	possibly damaging	Het
Epsti1	T	C	14: 77,986,744	I272T	probably benign	Het
Fndc3b	A	T	3: 27,465,787	C568*	probably null	Het
Frmd4a	C	T	2: 4,594,573	A161V	probably damaging	Het
Gfpt1	A	G	6: 87,077,157	T465A	probably damaging	Het
Hecw1	C	A	13: 14,245,762	Q1025H	probably damaging	Het
Irak4	A	T	15: 94,556,684	M237L	probably benign	Het
Irak4	T	C	15: 94,556,685	M237T	probably benign	Het
Kdsr	T	A	1: 106,753,241	I76F	possibly damaging	Het
Kif15	T	C	9: 122,996,295	F533S	probably damaging	Het
Kmt5b	T	C	19: 3,802,127	F103L	possibly damaging	Het
Krtcap2	C	T	3: 89,246,879	L36F	probably benign	Het
Mroh7	A	G	4: 106,711,251		probably null	Het
Mta1	T	C	12: 113,133,236	V559A	probably benign	Het
N4bp1	A	G	8: 86,860,420		probably null	Het
Oas1d	T	C	5: 120,916,940	S192P	possibly damaging	Het
Olfr215	A	G	6: 116,582,418	F176S	probably damaging	Het
Olfr353	T	A	2: 36,890,674	Y58F	probably benign	Het
Olfr809	A	G	10: 129,776,315	I149V	probably benign	Het
Rabgap1	T	A	2: 37,469,489	N21K	probably damaging	Het
Spg7	T	C	8: 123,087,363	S454P	probably damaging	Het
Spink2	T	A	5: 77,207,025	H40L	probably benign	Het
Syne1	T	A	10: 5,348,661	D1082V	probably damaging	Het
Syt2	A	G	1: 134,744,021	D179G	probably damaging	Het
Tm7sf2	T	C	19: 6,063,968	D181G	probably damaging	Het
Vmn1r174	A	G	7: 23,754,802	I298V	unknown	Het
Vmn2r23	A	T	6: 123,704,364	H77L	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Vps9d1	T	C	8: 123,254,013	E25G	probably damaging	Het
Zfp119a	T	C	17: 55,866,328	R172G	probably benign	Het
Zfp51	A	T	17: 21,465,322	Y733F	possibly damaging	Het
Zfp658	A	C	7: 43,572,931	E210A	probably benign	Het
Zp2	C	A	7: 120,135,764	E433*	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
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
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
Z1088:Rad9b	UTSW	5	122333372	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CTAAAGATTGGCAGAACTGACTG -3'
(R):5'- TGGTCACAGCAGGATTGACTC -3'

Sequencing Primer
(F):5'- TGACTGCAATACAAACACATCG -3'
(R):5'- TTGACTCAGGATAGAAGTCGGTC -3'

Posted On

2016-08-04