Mutagenetix > Incidental Mutations

Incidental Mutation 'R7938:Rpa1'

648886

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7938 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CA to C at 75307224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000767 (fasta)

Gene Model

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

AlphaFold

Q8VEE4

Predicted Effect

probably null
Transcript: ENSMUST00000000767

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751

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 null
Transcript: ENSMUST00000092907

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,164,885	K393E	possibly damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Bcam	T	G	7: 19,756,813	E586D	probably benign	Het
Bmp7	A	C	2: 172,879,490	I264S	probably benign	Het
Casz1	G	A	4: 148,944,486	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,841,594	N31K	probably benign	Het
Cfap61	A	G	2: 146,045,456	Y607C	probably benign	Het
Cnga1	T	C	5: 72,604,254	E639G	probably benign	Het
Coch	T	A	12: 51,596,583		probably null	Het
Col6a6	A	C	9: 105,780,684	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,701,790	L318R	probably damaging	Het
Cyp3a16	T	A	5: 145,452,856	Y233F	probably benign	Het
Dgkz	G	T	2: 91,965,472	R42S	probably damaging	Het
Dner	A	G	1: 84,695,497	Y78H	possibly damaging	Het
Fam205a1	A	G	4: 42,850,765	S464P	possibly damaging	Het
Fat2	T	C	11: 55,273,096	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,538,289	S768P	probably benign	Het
Gm45861	T	A	8: 27,581,962	N1269K	unknown	Het
Gpr12	T	A	5: 146,583,284	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,686,696	P769L	probably benign	Het
Hapln1	G	A	13: 89,605,228	R171H	probably damaging	Het
Hlx	T	G	1: 184,731,928	T72P	probably benign	Het
Iqcm	G	T	8: 75,577,968	C119F	probably benign	Het
Katna1	G	T	10: 7,761,311	A409S	probably benign	Het
Kcnip2	A	T	19: 45,794,290	I204N	probably damaging	Het
Kel	G	T	6: 41,698,376	Q314K	probably benign	Het
Klf5	T	C	14: 99,299,008	V5A	probably damaging	Het
Lax1	A	T	1: 133,680,158	C282S	probably benign	Het
Lyar	A	G	5: 38,230,951	T274A	probably benign	Het
Mboat1	A	G	13: 30,231,976	H306R	possibly damaging	Het
Morn5	A	T	2: 36,057,070	Y120F	probably benign	Het
Mrgprx2	T	C	7: 48,482,492	T193A	probably benign	Het
Myh10	T	A	11: 68,692,501	W8R	unknown	Het
Nfasc	A	G	1: 132,605,531	V644A	probably damaging	Het
Nup153	G	T	13: 46,689,379		probably null	Het
Olfr1269	A	T	2: 90,118,829	Y256*	probably null	Het
Olfr187	A	T	16: 59,035,962	Y258*	probably null	Het
Olfr99	T	A	17: 37,280,100	M107L	probably benign	Het
Orc4	A	T	2: 48,910,191	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,466,185		probably null	Het
Pif1	A	G	9: 65,594,791	D635G	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ppfia2	A	G	10: 106,474,787	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,438,406	D301V	probably damaging	Het
Prss46	A	G	9: 110,851,432	N215S	probably benign	Het
Qser1	A	C	2: 104,788,967	V410G	probably damaging	Het
Reln	A	C	5: 21,950,872	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,470,613	V180A	probably benign	Het
Rsph3a	G	T	17: 7,946,218	E137*	probably null	Het
Sqle	C	A	15: 59,324,466	H369Q	probably damaging	Het
Srebf2	T	A	15: 82,172,815	D250E	probably damaging	Het
Svs3b	A	T	2: 164,255,647	C251*	probably null	Het
Tdrd9	A	T	12: 112,031,215	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,012,085	S202P	possibly damaging	Het
Trank1	A	G	9: 111,365,028	T707A	probably benign	Het
Trav8-1	T	G	14: 53,470,231	D109E	possibly damaging	Het
Trem2	T	A	17: 48,351,749	S181T	probably benign	Het
Trim37	A	G	11: 87,147,037	N199S	probably benign	Het
Tshz3	T	C	7: 36,769,158	F191L	probably damaging	Het
Ubxn8	A	G	8: 33,621,684	M227T	probably damaging	Het
Uggt2	T	A	14: 119,059,107	I448F	possibly damaging	Het
Usp47	T	A	7: 112,087,925	L697M	probably damaging	Het
Vmn2r52	T	C	7: 10,159,373	D613G	probably benign	Het
Wdr81	T	C	11: 75,448,002	T1444A	probably benign	Het
Zfp423	T	C	8: 87,895,676	Y11C	unknown	Het
Zw10	T	A	9: 49,071,633	D521E	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
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
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
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'- AGCCCAGGCCTATCTGATTTC -3'
(R):5'- TTCTGCATATCGCTCGTGAG -3'

Sequencing Primer
(F):5'- GATTTCCTCAGCACACCCC -3'
(R):5'- GCGTGGGAGCTAGGATGTACAC -3'

Posted On

2020-09-15