Mutagenetix > Incidental Mutation

Incidental Mutation 'R0271:Rad1'

35326

Institutional Source

Beutler Lab

Gene Symbol

Rad1

Ensembl Gene

ENSMUSG00000022248

Gene Name

RAD1 checkpoint DNA exonuclease

Synonyms

MMRRC Submission

038497-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R0271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10486104-10499149 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 10490543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022855] [ENSMUST00000022856] [ENSMUST00000100775] [ENSMUST00000168408] [ENSMUST00000168761] [ENSMUST00000169050] [ENSMUST00000169519] [ENSMUST00000170100]

AlphaFold

Q9QWZ1

Predicted Effect

probably null
Transcript: ENSMUST00000022855

SMART Domains

Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Brix	63	243	3.62e-58	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000022856
AA Change: L170P

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

SMART Domains

Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: L170P

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	257	2.2e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100775
AA Change: L170P

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

SMART Domains

Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248
AA Change: L170P

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	235	5.5e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168408

SMART Domains

Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	67	1.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168761

SMART Domains

Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Blast:Brix	10	51	5e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000169050

SMART Domains

Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Pfam:Brix	72	154	8.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169519

SMART Domains

Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248

Domain	Start	End	E-Value	Type
Pfam:Rad1	16	133	9e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170100
AA Change: L140P

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

SMART Domains

Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248
AA Change: L140P

Domain	Start	End	E-Value	Type
Pfam:Rad1	1	161	1.3e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170531

Meta Mutation Damage Score

0.9224

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit normal B cell DNA damage sensitivity, somatic hypermutation, and class switch recombination. [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
4930544D05Rik	A	G	11: 70,507,474 (GRCm39)	Q173R	possibly damaging	Het
Ampd2	C	T	3: 107,994,032 (GRCm39)		probably benign	Het
Ankrd17	T	C	5: 90,402,658 (GRCm39)	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,422,872 (GRCm39)	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 140,977,918 (GRCm39)	M542I	probably benign	Het
C7	T	C	15: 5,044,862 (GRCm39)	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,411,645 (GRCm39)	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,838,347 (GRCm39)	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,495,149 (GRCm39)		probably null	Het
Cwc22	A	C	2: 77,751,202 (GRCm39)	N389K	probably benign	Het
Dgkb	T	A	12: 38,278,025 (GRCm39)	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,665,811 (GRCm39)	R950G	probably damaging	Het
Eml6	A	G	11: 29,798,949 (GRCm39)	V437A	possibly damaging	Het
Fanca	T	C	8: 123,999,180 (GRCm39)		probably benign	Het
Fgd2	C	G	17: 29,585,982 (GRCm39)	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,827,590 (GRCm39)	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,831,962 (GRCm39)	F63S	probably damaging	Het
Gm14496	A	T	2: 181,637,747 (GRCm39)	M274L	probably benign	Het
Gm7008	T	A	12: 40,273,559 (GRCm39)		probably benign	Het
Gm9922	T	A	14: 101,966,989 (GRCm39)		probably benign	Het
Gtf3c3	A	T	1: 54,467,971 (GRCm39)	M222K	possibly damaging	Het
Hspa1b	A	G	17: 35,177,808 (GRCm39)	V59A	probably benign	Het
Impg1	T	C	9: 80,294,161 (GRCm39)		probably benign	Het
Khdc4	T	C	3: 88,593,636 (GRCm39)		probably benign	Het
Lpcat4	T	A	2: 112,073,590 (GRCm39)		probably null	Het
Mipol1	T	C	12: 57,507,740 (GRCm39)		probably benign	Het
Mrpl37	C	A	4: 106,923,658 (GRCm39)	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,957,551 (GRCm39)	N1471D	possibly damaging	Het
Nes	G	A	3: 87,885,949 (GRCm39)	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,391,221 (GRCm39)	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,052,591 (GRCm39)	I946V	possibly damaging	Het
Obscn	T	G	11: 58,947,568 (GRCm39)		probably benign	Het
Or10q1b	A	T	19: 13,682,499 (GRCm39)	T103S	probably benign	Het
Or4a2	T	A	2: 89,248,502 (GRCm39)	Y85F	probably benign	Het
Or51q1	T	A	7: 103,628,837 (GRCm39)	I146K	possibly damaging	Het
Or5m12	A	T	2: 85,734,633 (GRCm39)	M255K	possibly damaging	Het
Pck2	T	C	14: 55,782,041 (GRCm39)		probably null	Het
Pcsk9	A	G	4: 106,306,246 (GRCm39)		probably benign	Het
Phyhd1	A	T	2: 30,159,834 (GRCm39)	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,673,780 (GRCm39)	G1001S	probably null	Het
Prss52	T	C	14: 64,351,127 (GRCm39)	V304A	probably benign	Het
Prss55	C	T	14: 64,313,056 (GRCm39)	G276D	probably benign	Het
Pzp	A	T	6: 128,496,477 (GRCm39)	Y252N	probably damaging	Het
Ripply3	A	T	16: 94,136,616 (GRCm39)	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,081,803 (GRCm39)	D255E	probably benign	Het
Rsad1	T	C	11: 94,439,290 (GRCm39)		probably benign	Het
Serpini2	A	G	3: 75,153,885 (GRCm39)	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125 (GRCm39)	E331V	probably benign	Het
Slc38a7	A	G	8: 96,572,506 (GRCm39)	F179L	probably damaging	Het
Stmn4	C	T	14: 66,593,732 (GRCm39)	Q42*	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,794,922 (GRCm39)	A520V	probably benign	Het
Tcp10a	A	G	17: 7,598,555 (GRCm39)	I162M	probably benign	Het
Tmprss13	A	G	9: 45,244,986 (GRCm39)		probably benign	Het
Tnfrsf14	A	G	4: 155,011,054 (GRCm39)		probably null	Het
Tpx2	A	G	2: 152,709,287 (GRCm39)		probably benign	Het
Vmn2r105	T	A	17: 20,454,965 (GRCm39)	N57I	probably damaging	Het
Wars1	C	T	12: 108,841,119 (GRCm39)	V220I	probably benign	Het
Washc1	T	A	17: 66,423,714 (GRCm39)	D212E	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,933,820 (GRCm39)	D139G	probably benign	Het
Zfp235	A	T	7: 23,836,556 (GRCm39)	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391 (GRCm39)	V230I	probably benign	Het

Other mutations in Rad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Rad1	APN	15	10,490,495 (GRCm39)	missense	probably benign	0.06
IGL01536:Rad1	APN	15	10,493,286 (GRCm39)	missense	possibly damaging	0.94
IGL01544:Rad1	APN	15	10,490,465 (GRCm39)	missense	probably damaging	0.99
IGL02058:Rad1	APN	15	10,493,361 (GRCm39)	missense	probably benign	0.01
IGL02368:Rad1	APN	15	10,493,337 (GRCm39)	missense	probably benign	0.19
IGL02793:Rad1	APN	15	10,493,365 (GRCm39)	missense	probably benign	0.00
IGL02875:Rad1	APN	15	10,493,365 (GRCm39)	missense	probably benign	0.00
R1874:Rad1	UTSW	15	10,488,092 (GRCm39)	missense	probably damaging	1.00
R2154:Rad1	UTSW	15	10,486,721 (GRCm39)	missense	possibly damaging	0.77
R2318:Rad1	UTSW	15	10,490,495 (GRCm39)	missense	probably benign	0.06
R2369:Rad1	UTSW	15	10,486,745 (GRCm39)	missense	probably damaging	1.00
R2875:Rad1	UTSW	15	10,490,417 (GRCm39)	missense	probably benign	0.09
R2876:Rad1	UTSW	15	10,490,417 (GRCm39)	missense	probably benign	0.09
R2915:Rad1	UTSW	15	10,486,728 (GRCm39)	missense	probably damaging	0.99
R3721:Rad1	UTSW	15	10,488,112 (GRCm39)	missense	probably benign	0.00
R4754:Rad1	UTSW	15	10,493,212 (GRCm39)	intron	probably benign
R4931:Rad1	UTSW	15	10,492,848 (GRCm39)	intron	probably benign
R5274:Rad1	UTSW	15	10,488,059 (GRCm39)	splice site	probably null
R5640:Rad1	UTSW	15	10,496,009 (GRCm39)	missense	possibly damaging	0.47
R5885:Rad1	UTSW	15	10,488,143 (GRCm39)	missense	probably damaging	1.00
R6056:Rad1	UTSW	15	10,488,160 (GRCm39)	missense	probably damaging	0.99
R6341:Rad1	UTSW	15	10,492,907 (GRCm39)	missense	probably damaging	0.99
R6420:Rad1	UTSW	15	10,488,098 (GRCm39)	missense	probably benign	0.00
R7068:Rad1	UTSW	15	10,490,379 (GRCm39)	nonsense	probably null
R7205:Rad1	UTSW	15	10,493,343 (GRCm39)	missense	probably benign	0.00
R7312:Rad1	UTSW	15	10,493,367 (GRCm39)	missense	probably benign	0.00
R7817:Rad1	UTSW	15	10,493,404 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTAAGCCCCATGTGCCTTAACTC -3'
(R):5'- GTGCCTTAGGTCACCAACAGCTAC -3'

Sequencing Primer
(F):5'- CGCTTCGGATGTGTTACCAAG -3'
(R):5'- GATTATGAGAATCGGCTTCCAAC -3'

Posted On

2013-05-09