Mutagenetix > Incidental Mutation

Incidental Mutation 'R6762:Rpa1'

531753

Institutional Source

Beutler Lab

Gene Symbol

Rpa1

Ensembl Gene

ENSMUSG00000000751

Gene Name

replication protein A1

Synonyms

Rpa, 5031405K23Rik, RP-A, RF-A, 70kDa

MMRRC Submission

044878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75340345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 73 (S73C)

Ref Sequence

ENSEMBL: ENSMUSP00000000767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000767] [ENSMUST00000092907]

AlphaFold

Q8VEE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000767
AA Change: S73C

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: S73C

Domain	Start	End	E-Value	Type
Pfam:Rep-A_N	5	93	7.2e-30	PFAM
low complexity region	145	175	N/A	INTRINSIC
Pfam:tRNA_anti-codon	227	316	5e-13	PFAM
Pfam:REPA_OB_2	335	432	5e-37	PFAM
Pfam:Rep_fac-A_C	491	636	4.5e-57	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092907
AA Change: S73C

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: S73C

Domain	Start	End	E-Value	Type
Pfam:Rep-A_N	5	104	4.3e-35	PFAM
low complexity region	124	154	N/A	INTRINSIC
Pfam:tRNA_anti-codon	206	295	8.4e-13	PFAM
SCOP:d1fgua2	308	435	8e-46	SMART
Pfam:Rep_fac-A_C	470	615	9.2e-56	PFAM

Meta Mutation Damage Score

0.1077

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (45/45)

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic lethality before implantation and impaired cell proliferation. Heterozygous null mice display decreased survival, chromosomal instability, impaired double strand break repair, and develop lymphomas. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr4	A	G	9: 104,099,668	Y27H	probably benign	Het
Angptl3	T	A	4: 99,037,417	S327T	possibly damaging	Het
Arl6ip4	GGAAGAAGAAGAAGAAGAA	GGAAGAAGAAGAAGAAGAAGAA	5: 124,117,050		probably benign	Het
Cyp2s1	A	T	7: 25,808,070	L318H	probably damaging	Het
Dnah14	T	C	1: 181,757,259	L3185P	probably damaging	Het
Dnah7b	T	C	1: 46,224,742	V2128A	probably benign	Het
Ehhadh	A	T	16: 21,762,459	F594L	probably benign	Het
En2	A	G	5: 28,170,353	N298S	possibly damaging	Het
Epha5	T	A	5: 84,331,726	N140Y	probably damaging	Het
Fam151b	C	T	13: 92,468,050	V144I	possibly damaging	Het
Fanca	C	A	8: 123,271,303	A1215S	probably benign	Het
Fancd2	T	A	6: 113,586,016		probably null	Het
Fat2	T	C	11: 55,253,482		probably null	Het
Gm4513	T	C	7: 20,594,193	N31S	probably benign	Het
Hspg2	A	T	4: 137,551,803	I3066F	possibly damaging	Het
Krt10	T	C	11: 99,387,057	T355A	possibly damaging	Het
Lims1	C	A	10: 58,412,545	H275N	probably damaging	Het
Map3k19	C	T	1: 127,847,264	G112D	probably damaging	Het
Mdn1	T	A	4: 32,676,786	N619K	possibly damaging	Het
Mpp6	T	A	6: 50,180,438		probably null	Het
Mtor	A	G	4: 148,538,481	T1977A	possibly damaging	Het
Nos2	T	G	11: 78,959,748	L1144R	possibly damaging	Het
Olfr1085	A	T	2: 86,657,844	F205I	probably benign	Het
Olfr608	G	C	7: 103,470,389	V117L	probably benign	Het
Olfr780	G	A	10: 129,322,256	C211Y	probably damaging	Het
Pcdhga9	C	A	18: 37,737,268	S50Y	probably damaging	Het
Pfn4	T	A	12: 4,775,487	M108K	probably damaging	Het
Prep	T	C	10: 45,148,123		probably null	Het
Qtrt1	T	A	9: 21,412,082	H76Q	probably damaging	Het
Senp5	A	G	16: 31,989,884	V157A	probably damaging	Het
Snapc3	T	C	4: 83,435,258	L178P	probably damaging	Het
Sptbn4	A	G	7: 27,394,208	F1340L	probably damaging	Het
Srd5a3	T	A	5: 76,153,551	I85K	probably benign	Het
Taar2	C	T	10: 23,941,402	T280M	probably damaging	Het
Tgfb3	T	C	12: 86,069,463	D177G	probably benign	Het
Tpt1	A	G	14: 75,846,381	D94G	probably benign	Het
Trpm4	A	G	7: 45,304,816		probably benign	Het
Trpv4	C	T	5: 114,625,110	R746H	probably benign	Het
Txndc2	T	C	17: 65,638,972	D70G	probably damaging	Het
Ugcg	T	A	4: 59,219,530	I289N	possibly damaging	Het
Vmn2r2	C	G	3: 64,134,449	D282H	probably damaging	Het
Vmn2r50	A	T	7: 10,053,083	N32K	probably benign	Het
Wdpcp	C	T	11: 21,721,244	T495I	probably benign	Het
Zfp961	T	A	8: 71,966,114	C51S	possibly damaging	Het
Zxdc	C	T	6: 90,382,183	A599V	probably benign	Het

Other mutations in Rpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Rpa1	APN	11	75312315	missense	probably damaging	1.00
IGL01347:Rpa1	APN	11	75307285	missense	probably damaging	1.00
IGL02976:Rpa1	APN	11	75312802	missense	probably damaging	0.99
IGL03169:Rpa1	APN	11	75301357	missense	probably damaging	0.97
nonnae	UTSW	11	75314895	missense	probably damaging	1.00
vomica	UTSW	11	75340345	missense	possibly damaging	0.89
FR4976:Rpa1	UTSW	11	75318519	small deletion	probably benign
PIT4576001:Rpa1	UTSW	11	75313158	missense	probably damaging	1.00
R0017:Rpa1	UTSW	11	75314861	missense	probably null	1.00
R0017:Rpa1	UTSW	11	75314861	missense	probably null	1.00
R0126:Rpa1	UTSW	11	75318529	missense	probably benign	0.00
R0240:Rpa1	UTSW	11	75328687	missense	probably benign	0.01
R0240:Rpa1	UTSW	11	75328687	missense	probably benign	0.01
R0465:Rpa1	UTSW	11	75313095	missense	probably damaging	0.99
R0718:Rpa1	UTSW	11	75318401	splice site	probably benign
R0973:Rpa1	UTSW	11	75312973	splice site	probably null
R1055:Rpa1	UTSW	11	75302732	missense	probably damaging	1.00
R1172:Rpa1	UTSW	11	75312393	missense	probably damaging	1.00
R1642:Rpa1	UTSW	11	75312691	critical splice donor site	probably null
R1883:Rpa1	UTSW	11	75318483	missense	probably benign
R1975:Rpa1	UTSW	11	75306176	missense	probably damaging	1.00
R5008:Rpa1	UTSW	11	75313299	critical splice donor site	probably null
R5279:Rpa1	UTSW	11	75313344	missense	probably damaging	0.96
R6083:Rpa1	UTSW	11	75314911	missense	probably damaging	1.00
R6161:Rpa1	UTSW	11	75314895	missense	probably damaging	1.00
R6187:Rpa1	UTSW	11	75310236	missense	probably benign	0.00
R6828:Rpa1	UTSW	11	75314871	missense	probably damaging	1.00
R7044:Rpa1	UTSW	11	75312802	missense	probably damaging	0.99
R7331:Rpa1	UTSW	11	75313115	missense	probably damaging	0.98
R7798:Rpa1	UTSW	11	75312809	missense	probably damaging	0.96
R7890:Rpa1	UTSW	11	75307224	frame shift	probably null
R7938:Rpa1	UTSW	11	75307224	frame shift	probably null
R8116:Rpa1	UTSW	11	75302675	missense	possibly damaging	0.90
R8258:Rpa1	UTSW	11	75302724	missense	probably benign	0.03
R8259:Rpa1	UTSW	11	75302724	missense	probably benign	0.03
R8837:Rpa1	UTSW	11	75313341	missense	possibly damaging	0.70
R9169:Rpa1	UTSW	11	75310173	nonsense	probably null
R9789:Rpa1	UTSW	11	75313112	missense	probably damaging	0.97
RF018:Rpa1	UTSW	11	75318517	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAATGTTCGTCTGCATCC -3'
(R):5'- AACAGATACCATTTAGGAAGAGCCTC -3'

Sequencing Primer
(F):5'- GTTCGTCTGCATCCGGCTG -3'
(R):5'- AGAGCCTCAGACTTTTACATGGG -3'

Posted On

2018-08-29