Mutagenetix > Incidental Mutation

Incidental Mutation 'R8495:Rad9b'

668189

Institutional Source

Beutler Lab

Gene Symbol

Rad9b

Ensembl Gene

ENSMUSG00000038569

Gene Name

RAD9 checkpoint clamp component B

Synonyms

A630082N15Rik

MMRRC Submission

067937-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8495 (G1)

Quality Score

92.0077

Status

Validated

Chromosome

Chromosomal Location

122461286-122492296 bp(-) (GRCm39)

Type of Mutation

splice site (6699 bp from exon)

DNA Base Change (assembly)

T to C at 122471096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6WBX7

Predicted Effect

probably null
Transcript: ENSMUST00000049009

SMART Domains

Protein: ENSMUSP00000036177
Gene: ENSMUSG00000038569

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

Predicted Effect

probably null
Transcript: ENSMUST00000117263

SMART Domains

Protein: ENSMUSP00000113868
Gene: ENSMUSG00000038569

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

Predicted Effect

probably null
Transcript: ENSMUST00000149600

SMART Domains

Protein: ENSMUSP00000120843
Gene: ENSMUSG00000038569

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (38/39)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	A	G	5: 48,536,699 (GRCm39)	T132A	possibly damaging	Het
Abcb1b	T	G	5: 8,915,865 (GRCm39)	V1249G	probably damaging	Het
Cdc5l	A	G	17: 45,737,449 (GRCm39)	L103P	probably damaging	Het
Clrn2	G	T	5: 45,617,485 (GRCm39)	A119S	possibly damaging	Het
Cop1	A	T	1: 159,077,600 (GRCm39)	H145L	probably benign	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dennd4a	A	G	9: 64,794,161 (GRCm39)	E660G	probably damaging	Het
Dhx34	T	C	7: 15,952,472 (GRCm39)	Y51C	probably benign	Het
Dnah5	A	G	15: 28,409,414 (GRCm39)	I3611V	probably damaging	Het
Dock2	A	T	11: 34,181,622 (GRCm39)	L1647Q	probably benign	Het
Dpy19l4	G	A	4: 11,267,659 (GRCm39)	T427M	probably benign	Het
Eef2k	T	C	7: 120,487,103 (GRCm39)	L417P	probably benign	Het
Eng	A	G	2: 32,568,906 (GRCm39)	S477G	probably benign	Het
Enox1	T	C	14: 77,870,012 (GRCm39)	I424T	probably benign	Het
Faim2	A	G	15: 99,408,473 (GRCm39)	V253A	probably benign	Het
Farp2	A	G	1: 93,531,139 (GRCm39)	I546V	possibly damaging	Het
Fcgbp	T	G	7: 27,785,978 (GRCm39)	Y472D	probably damaging	Het
Gm43302	A	T	5: 105,424,570 (GRCm39)	C357S	possibly damaging	Het
Gm47189	T	C	14: 41,492,053 (GRCm39)	T75A	probably damaging	Het
Mms22l	A	G	4: 24,496,908 (GRCm39)	M1V	probably null	Het
Myo3a	A	T	2: 22,401,084 (GRCm39)	I618F	probably damaging	Het
Nqo2	T	C	13: 34,165,477 (GRCm39)	F125L	probably damaging	Het
Or10q1	T	A	19: 13,726,593 (GRCm39)	M41K	possibly damaging	Het
Pdcd6ip	G	A	9: 113,518,775 (GRCm39)	H162Y	probably benign	Het
Potefam1	C	T	2: 111,059,755 (GRCm39)	M1I	probably null	Het
Potegl	A	G	2: 23,097,852 (GRCm39)	E10G	probably benign	Het
Robo3	A	G	9: 37,336,664 (GRCm39)	F368S	probably damaging	Het
Rsph4a	G	A	10: 33,781,488 (GRCm39)	A113T	probably benign	Het
Smc2	A	T	4: 52,450,992 (GRCm39)	N270I	probably benign	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Spsb4	A	G	9: 96,877,622 (GRCm39)		probably null	Het
Spta1	G	A	1: 174,043,051 (GRCm39)	R1399Q	probably benign	Het
Stab1	T	C	14: 30,877,790 (GRCm39)	D749G	probably damaging	Het
Tas2r115	A	T	6: 132,714,887 (GRCm39)	N21K	probably damaging	Het
Tbkbp1	A	G	11: 97,037,429 (GRCm39)	V221A	probably benign	Het
Tln2	G	T	9: 67,261,749 (GRCm39)	N663K	probably benign	Het
Tmprss11g	A	T	5: 86,640,119 (GRCm39)	I170K	probably benign	Het
Tnfrsf21	G	A	17: 43,349,128 (GRCm39)	E247K	probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Vmn1r204	G	A	13: 22,740,879 (GRCm39)	C170Y	probably damaging	Het
Vwa8	G	T	14: 79,174,617 (GRCm39)	E349*	probably null	Het
Xpo7	A	G	14: 70,907,989 (GRCm39)		probably null	Het

Other mutations in Rad9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Rad9b	APN	5	122,482,310 (GRCm39)	missense	probably benign	0.01
IGL02375:Rad9b	APN	5	122,471,405 (GRCm39)	missense	possibly damaging	0.71
R0027:Rad9b	UTSW	5	122,489,786 (GRCm39)	unclassified	probably benign
R0027:Rad9b	UTSW	5	122,489,786 (GRCm39)	unclassified	probably benign
R0103:Rad9b	UTSW	5	122,469,590 (GRCm39)	missense	probably damaging	0.99
R0103:Rad9b	UTSW	5	122,469,590 (GRCm39)	missense	probably damaging	0.99
R0975:Rad9b	UTSW	5	122,472,320 (GRCm39)	splice site	probably null
R2006:Rad9b	UTSW	5	122,477,842 (GRCm39)	missense	possibly damaging	0.74
R2265:Rad9b	UTSW	5	122,489,405 (GRCm39)	missense	probably damaging	0.98
R4818:Rad9b	UTSW	5	122,477,839 (GRCm39)	missense	probably damaging	1.00
R5392:Rad9b	UTSW	5	122,489,641 (GRCm39)	missense	probably damaging	1.00
R6041:Rad9b	UTSW	5	122,489,415 (GRCm39)	missense	probably damaging	0.99
R6109:Rad9b	UTSW	5	122,482,360 (GRCm39)	missense	probably damaging	1.00
R6133:Rad9b	UTSW	5	122,477,831 (GRCm39)	missense	possibly damaging	0.79
R6566:Rad9b	UTSW	5	122,490,630 (GRCm39)	missense	probably damaging	1.00
R6695:Rad9b	UTSW	5	122,489,754 (GRCm39)	missense	probably damaging	1.00
R7295:Rad9b	UTSW	5	122,472,341 (GRCm39)	missense	possibly damaging	0.95
R7299:Rad9b	UTSW	5	122,490,677 (GRCm39)	missense	possibly damaging	0.87
R7301:Rad9b	UTSW	5	122,490,677 (GRCm39)	missense	possibly damaging	0.87
R8954:Rad9b	UTSW	5	122,482,293 (GRCm39)	missense	probably benign	0.44
Z1088:Rad9b	UTSW	5	122,471,435 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGGAAAGCTTTATGAGGTCATG -3'
(R):5'- TCCCAGGCACGAAGGTAATG -3'

Sequencing Primer
(F):5'- AGGTCATGAGAATGCATGCTTTC -3'
(R):5'- AAGGACAGTACCAGGTGTTAGTTTTC -3'

Posted On

2021-04-05