Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4576001:Rpa1'

556385

Institutional Source

Beutler Lab

Gene Symbol

Rpa1

Ensembl Gene

ENSMUSG00000000751

Gene Name

replication protein A1

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4576001 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75313158 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 288 (S288P)

Ref Sequence

ENSEMBL: ENSMUSP00000000767 (fasta)

Gene Model

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

AlphaFold

Q8VEE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000000767
AA Change: S288P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: S288P

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

probably damaging
Transcript: ENSMUST00000092907
AA Change: S267P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: S267P

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

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.3%
20x: 72.8%

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,952,999	S73P	probably damaging	Het
5730596B20Rik	G	T	6: 52,179,469	V172F	unknown	Het
Brms1	A	G	19: 5,046,201	K69E	probably damaging	Het
Calr4	A	C	4: 109,235,856	Q44H	possibly damaging	Het
Dnmt1	G	A	9: 20,911,775	T1242I	probably benign	Het
Dyrk3	A	G	1: 131,130,181	V85A	probably damaging	Het
Eif2a	T	C	3: 58,545,553	Y250H	probably damaging	Het
Esco1	T	C	18: 10,572,093	E749G	probably damaging	Het
Fat1	A	G	8: 45,024,645	I2243V	probably damaging	Het
Gh	A	T	11: 106,300,833	F128I	possibly damaging	Het
Gm17669	TAA	TAAA	18: 67,562,749		probably null	Het
Gm5415	T	C	1: 32,546,472	E119G	probably damaging	Het
Gtpbp4	A	G	13: 8,991,727	Y150H	probably damaging	Het
Hist1h2ak	C	A	13: 21,753,611	D73Y	probably damaging	Het
Itga8	A	G	2: 12,230,092	S452P	probably benign	Het
Kcnma1	C	T	14: 23,309,035		probably null	Het
Macf1	T	C	4: 123,473,321	E2549G	probably benign	Het
Mindy1	C	T	3: 95,288,069	A41V	probably benign	Het
Mypn	T	A	10: 63,120,071	K1201M	probably damaging	Het
Ncor1	A	G	11: 62,333,717	S906P	probably damaging	Het
Npy1r	T	C	8: 66,704,222	V98A	probably benign	Het
Pate2	A	G	9: 35,670,593	Y61C	probably damaging	Het
Pfdn2	A	G	1: 171,345,742	S11G	unknown	Het
Prdm1	T	C	10: 44,458,508	M1V	probably null	Het
Prelp	A	G	1: 133,915,165	S81P	possibly damaging	Het
Prss12	T	C	3: 123,487,115	V483A	probably damaging	Het
Prss43	G	C	9: 110,827,887	V154L	probably damaging	Het
Ptpru	G	A	4: 131,802,544	R618*	probably null	Het
Siglec1	A	G	2: 131,078,161	F817L	probably damaging	Het
Skint6	T	A	4: 113,053,367	S545C	possibly damaging	Het
Slit1	A	T	19: 41,624,549	V844D	possibly damaging	Het
Suclg2	G	T	6: 95,587,018	D195E	possibly damaging	Het
Tln1	G	T	4: 43,539,998	A1537D	probably damaging	Het
Trpv2	A	G	11: 62,581,201	D73G	probably damaging	Het
Ucp3	T	C	7: 100,480,251	S98P	probably benign	Het
Usp19	T	A	9: 108,492,732		probably null	Het
Vmn2r112	T	C	17: 22,614,931	F527L	probably benign	Het
Vmn2r93	T	C	17: 18,313,211	V459A	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
R6762_Rpa1_753	UTSW	11	75340345	missense	possibly damaging	0.89
FR4976:Rpa1	UTSW	11	75318519	small deletion	probably benign
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
R6762:Rpa1	UTSW	11	75340345	missense	possibly damaging	0.89
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
RF018:Rpa1	UTSW	11	75318517	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTACTAGTGCGTCTTTAGCC -3'
(R):5'- TCTGCAGGGTGAAATCAGAG -3'

Sequencing Primer
(F):5'- AGCCTTGCTCTCTAGGTCAC -3'
(R):5'- GAGCAAGTGGACAAGTTCTTTCCC -3'

Posted On

2019-06-07