Mutagenetix > Incidental Mutation

Incidental Mutation 'R6566:Rad9b'

522667

Institutional Source

Beutler Lab

Gene Symbol

Rad9b

Ensembl Gene

ENSMUSG00000038569

Gene Name

RAD9 checkpoint clamp component B

Synonyms

A630082N15Rik

MMRRC Submission

044690-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6566 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122461286-122492296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122490630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 29 (W29R)

Ref Sequence

ENSEMBL: ENSMUSP00000036177 (fasta)

Gene Model

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

AlphaFold

Q6WBX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000049009
AA Change: W29R

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

SMART Domains

Protein: ENSMUSP00000036177
Gene: ENSMUSG00000038569
AA Change: W29R

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 benign
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 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 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

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: ENSMUST00000144268

SMART Domains

Protein: ENSMUSP00000117334
Gene: ENSMUSG00000038569

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: ENSMUST00000154686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200653

Meta Mutation Damage Score

0.7353

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,075,321 (GRCm39)	I164T	probably damaging	Het
Adad2	C	T	8: 120,340,971 (GRCm39)	P164S	probably benign	Het
Adcy3	T	A	12: 4,244,324 (GRCm39)	L278H	probably damaging	Het
Aldh16a1	A	C	7: 44,792,651 (GRCm39)	D670E	probably benign	Het
Bcat1	A	G	6: 144,961,210 (GRCm39)	M131T	probably damaging	Het
Dcstamp	T	C	15: 39,617,732 (GRCm39)	F47S	possibly damaging	Het
Dsg1b	T	C	18: 20,530,499 (GRCm39)	F385L	probably damaging	Het
Exoc8	A	C	8: 125,622,783 (GRCm39)	L528R	probably damaging	Het
Fat4	T	C	3: 39,011,275 (GRCm39)	V2125A	possibly damaging	Het
Gm57859	C	T	11: 113,578,824 (GRCm39)	P73L	probably damaging	Het
Hecw1	T	C	13: 14,471,868 (GRCm39)	D600G	probably damaging	Het
Ice2	G	A	9: 69,323,511 (GRCm39)	V669I	probably benign	Het
Khdc4	C	T	3: 88,618,961 (GRCm39)	T555M	probably damaging	Het
Lsr	T	A	7: 30,671,508 (GRCm39)	Y75F	possibly damaging	Het
Mrps30	C	A	13: 118,523,662 (GRCm39)	V37L	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or6c217	T	A	10: 129,737,947 (GRCm39)	I211L	probably benign	Het
Pign	A	G	1: 105,565,906 (GRCm39)		probably null	Het
Plcd3	A	G	11: 102,964,626 (GRCm39)	Y582H	probably damaging	Het
Rb1cc1	T	A	1: 6,319,316 (GRCm39)	F912I	probably benign	Het
Rgs16	C	T	1: 153,619,546 (GRCm39)	S184L	unknown	Het
Runx2	A	G	17: 45,125,375 (GRCm39)		probably null	Het
Serpina1f	T	A	12: 103,659,794 (GRCm39)	I163F	probably damaging	Het
Serpina9	T	C	12: 103,963,296 (GRCm39)	E404G	possibly damaging	Het
Slc4a4	T	C	5: 89,297,192 (GRCm39)	S511P	possibly damaging	Het
Speg	A	T	1: 75,365,107 (GRCm39)	E390V	probably damaging	Het
Syne3	A	G	12: 104,912,966 (GRCm39)	V614A	probably benign	Het
Tmc5	T	C	7: 118,247,067 (GRCm39)	S524P	probably damaging	Het
Tuba4a	G	A	1: 75,193,930 (GRCm39)	T51I	probably damaging	Het
Tymp	T	A	15: 89,257,803 (GRCm39)	T421S	probably benign	Het
Uvssa	A	G	5: 33,549,520 (GRCm39)	R394G	possibly damaging	Het
Wdr7	T	G	18: 63,888,126 (GRCm39)	I533S	possibly damaging	Het
Zbtb5	G	A	4: 44,994,508 (GRCm39)	T292M	probably damaging	Het
Zfp944	T	G	17: 22,558,726 (GRCm39)	K174Q	possibly damaging	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
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
R8495:Rad9b	UTSW	5	122,471,096 (GRCm39)	splice site	probably null
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'- CTGTTTGTGTTTCTTGACCCGTA -3'
(R):5'- ACTAAGTTGTTCAGTGGATCCC -3'

Sequencing Primer
(F):5'- AGGGTTTGAGACAGAGTTTCTC -3'
(R):5'- GGATCCCACCGTCCTTTCTGG -3'

Posted On

2018-06-06