Mutagenetix > Incidental Mutation

Incidental Mutation 'R2915:Rad1'

254864

Institutional Source

Beutler Lab

Gene Symbol

Rad1

Ensembl Gene

ENSMUSG00000022248

Gene Name

RAD1 checkpoint DNA exonuclease

Synonyms

MMRRC Submission

040502-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R2915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10486018-10499063 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10486642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 42 (C42R)

Ref Sequence

ENSEMBL: ENSMUSP00000126645 (fasta)

Gene Model

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

AlphaFold

Q9QWZ1

Predicted Effect

probably benign
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: C42R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: C42R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100775
AA Change: C42R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248
AA Change: C42R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168408
AA Change: C42R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248
AA Change: C42R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168690

SMART Domains

Protein: ENSMUSP00000132283
Gene: ENSMUSG00000022247

Domain	Start	End	E-Value	Type
Brix	22	147	5.12e-17	SMART

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 benign
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 damaging
Transcript: ENSMUST00000169519
AA Change: C42R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248
AA Change: C42R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170100
AA Change: C12R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248
AA Change: C12R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170531

Meta Mutation Damage Score

0.4482

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Arhgap11a	A	G	2: 113,833,508	V810A	probably damaging	Het
B3gnt6	T	C	7: 98,193,593	N387D	probably benign	Het
Col5a2	C	G	1: 45,413,496	G358R	probably damaging	Het
Cracr2a	A	G	6: 127,611,505	K209R	probably damaging	Het
Dmkn	A	G	7: 30,765,316	N32S	unknown	Het
Dusp13	T	A	14: 21,740,137	N47I	probably damaging	Het
Elmo2	A	G	2: 165,297,653		probably benign	Het
Ephb6	T	C	6: 41,614,238	F110L	probably damaging	Het
Gabrb2	T	A	11: 42,591,907	N197K	probably benign	Het
Gdnf	T	A	15: 7,815,649	V41E	possibly damaging	Het
Gm21915	A	G	9: 40,670,787	I59V	possibly damaging	Het
Gprin2	C	T	14: 34,195,081	G244D	possibly damaging	Het
Grin2d	T	C	7: 45,833,357		probably benign	Het
Ice2	A	G	9: 69,410,840	D241G	probably benign	Het
Mios	C	T	6: 8,214,935	R44C	possibly damaging	Het
Nlrp5-ps	T	C	7: 14,586,711		noncoding transcript	Het
Nyap2	C	T	1: 81,087,471	R67*	probably null	Het
Olfr1031	T	A	2: 85,992,045	V76E	probably damaging	Het
Olfr1094	T	C	2: 86,829,226	I158T	probably benign	Het
Olfr1306	G	T	2: 111,912,719	D70E	probably damaging	Het
Olfr1428	G	A	19: 12,108,625	P81L	probably benign	Het
Olfr27	G	T	9: 39,144,466	R122L	possibly damaging	Het
Otop2	G	A	11: 115,329,146	A271T	probably benign	Het
Otulin	A	G	15: 27,619,630		probably benign	Het
Pax1	A	G	2: 147,368,428	Y361C	probably damaging	Het
Pcdhb12	A	T	18: 37,437,640	N613I	probably damaging	Het
Plekha5	A	G	6: 140,589,199	K173E	probably damaging	Het
Plin4	T	A	17: 56,104,389	T881S	probably damaging	Het
Poli	A	G	18: 70,522,700		probably null	Het
Prex2	T	A	1: 11,169,853	F898I	probably damaging	Het
Prr14l	A	T	5: 32,829,768	H794Q	probably benign	Het
Prss1	A	T	6: 41,462,611	I93F	probably benign	Het
Ptpro	C	T	6: 137,414,241		probably benign	Het
Rnf20	A	G	4: 49,638,769	E197G	probably benign	Het
Setx	A	G	2: 29,172,324	E2260G	probably damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Six2	A	G	17: 85,685,188	S296P	probably damaging	Het
Smg1	T	A	7: 118,210,879		probably benign	Het
Spred2	T	C	11: 19,998,215	V41A	probably damaging	Het
Ssu2	A	T	6: 112,377,605	C219*	probably null	Het
Tbc1d9b	T	A	11: 50,149,736	V360D	possibly damaging	Het
Tdrd9	G	A	12: 112,040,461	D920N	probably damaging	Het
Tyrp1	A	G	4: 80,837,455	T154A	possibly damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wac	A	C	18: 7,926,131	M596L	possibly damaging	Het
Zfhx2	G	T	14: 55,064,557	P1990Q	probably damaging	Het
Zfp853	T	C	5: 143,289,577	E96G	unknown	Het
Zzef1	G	A	11: 72,910,326		probably null	Het

Other mutations in Rad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Rad1	APN	15	10490409	missense	probably benign	0.06
IGL01536:Rad1	APN	15	10493200	missense	possibly damaging	0.94
IGL01544:Rad1	APN	15	10490379	missense	probably damaging	0.99
IGL02058:Rad1	APN	15	10493275	missense	probably benign	0.01
IGL02368:Rad1	APN	15	10493251	missense	probably benign	0.19
IGL02793:Rad1	APN	15	10493279	missense	probably benign	0.00
IGL02875:Rad1	APN	15	10493279	missense	probably benign	0.00
R0271:Rad1	UTSW	15	10490457	splice site	probably null
R1874:Rad1	UTSW	15	10488006	missense	probably damaging	1.00
R2154:Rad1	UTSW	15	10486635	missense	possibly damaging	0.77
R2318:Rad1	UTSW	15	10490409	missense	probably benign	0.06
R2369:Rad1	UTSW	15	10486659	missense	probably damaging	1.00
R2875:Rad1	UTSW	15	10490331	missense	probably benign	0.09
R2876:Rad1	UTSW	15	10490331	missense	probably benign	0.09
R3721:Rad1	UTSW	15	10488026	missense	probably benign	0.00
R4754:Rad1	UTSW	15	10493126	intron	probably benign
R4931:Rad1	UTSW	15	10492762	intron	probably benign
R5274:Rad1	UTSW	15	10487973	splice site	probably null
R5640:Rad1	UTSW	15	10495923	missense	possibly damaging	0.47
R5885:Rad1	UTSW	15	10488057	missense	probably damaging	1.00
R6056:Rad1	UTSW	15	10488074	missense	probably damaging	0.99
R6341:Rad1	UTSW	15	10492821	missense	probably damaging	0.99
R6420:Rad1	UTSW	15	10488012	missense	probably benign	0.00
R7068:Rad1	UTSW	15	10490293	nonsense	probably null
R7205:Rad1	UTSW	15	10493257	missense	probably benign	0.00
R7312:Rad1	UTSW	15	10493281	missense	probably benign	0.00
R7817:Rad1	UTSW	15	10493318	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTCCGGAAGAGGAGCATC -3'
(R):5'- CGTTATCTGTGTGAGACAAGATGG -3'

Sequencing Primer
(F):5'- GGAGCATCCTTCTTCTCGGAG -3'
(R):5'- CAAGATGGGGAAAGTATTTGTTGGC -3'

Posted On

2014-12-29