Mutagenetix > Incidental Mutations

Incidental Mutation 'R7890:Rpa1'

609284

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 #

R7890 (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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,884,122	K551N	probably benign	Het
Acp4	A	C	7: 44,254,104	L262R	probably damaging	Het
Acsf3	G	T	8: 122,785,965		probably null	Het
Ago4	T	C	4: 126,526,076	Q36R	probably benign	Het
Ankrd31	T	A	13: 96,831,871	I672K	probably benign	Het
Astn1	A	T	1: 158,580,333	D628V	probably damaging	Het
Brca2	T	C	5: 150,539,381	V870A	possibly damaging	Het
Camk4	T	C	18: 33,185,005	V405A	probably benign	Het
Carmil1	A	T	13: 24,013,232	S146T		Het
Cflar	T	A	1: 58,752,756	L406Q		Het
Clic6	T	A	16: 92,499,387	S312T	probably benign	Het
Col5a2	T	C	1: 45,404,987		probably null	Het
Ctc1	C	A	11: 69,026,529	Q384K	probably damaging	Het
Defa24	A	G	8: 21,734,540	K2E	probably damaging	Het
Dis3l	C	A	9: 64,322,471	A309S	probably benign	Het
Dnah9	A	G	11: 66,072,072	S1806P	probably damaging	Het
Dolk	C	T	2: 30,284,714	V440I	probably damaging	Het
Erc2	A	G	14: 28,040,341		probably null	Het
Fntb	T	C	12: 76,873,450		probably null	Het
Gm12569	C	T	11: 51,234,838	S196L	probably damaging	Het
Gm4846	A	T	1: 166,494,659	V113E	probably benign	Het
Gm5592	G	T	7: 41,286,759	Q228H	probably damaging	Het
Gm5916	T	A	9: 36,120,995	T48S	possibly damaging	Het
Ift172	G	T	5: 31,283,081	Y287*	probably null	Het
Il27ra	T	C	8: 84,033,985	I450M	probably damaging	Het
Krtap31-2	T	A	11: 99,936,551	C70S	possibly damaging	Het
Lipo4	T	A	19: 33,501,564	H292L	probably damaging	Het
Lyst	T	C	13: 13,740,569	F3283L	probably damaging	Het
Mctp1	T	G	13: 76,827,757	C750G	probably damaging	Het
Mtmr7	T	C	8: 40,551,735	D600G	possibly damaging	Het
Mylk	C	T	16: 34,963,648	Q1395*	probably null	Het
Nap1l5	T	A	6: 58,906,888	D27V	probably damaging	Het
Nfkbib	T	C	7: 28,762,087	D75G	probably damaging	Het
Nlrc4	T	A	17: 74,437,508	M793L	probably benign	Het
Olfr451-ps1	T	A	6: 42,801,492	C250*	probably null	Het
Olfr472	T	C	7: 107,903,043	S109P	probably benign	Het
Olfr599	G	T	7: 103,338,330	C92F	probably benign	Het
Olfr832	T	C	9: 18,945,503	M285T	probably benign	Het
Olfr970	C	T	9: 39,820,014	A125V	probably damaging	Het
Pcdh15	G	A	10: 74,642,314	R207Q	probably damaging	Het
Plek	T	C	11: 16,995,238	T54A	probably benign	Het
Pno1	C	A	11: 17,211,443	R22L	probably benign	Het
Prkca	A	T	11: 108,012,684	N287K	probably damaging	Het
Rapgef6	C	G	11: 54,626,723	H414D	probably damaging	Het
Rpap2	T	C	5: 107,606,911	C136R	probably damaging	Het
Rtl1	C	T	12: 109,592,817	E863K	possibly damaging	Het
Ryr3	A	T	2: 112,926,912	I366N	probably damaging	Het
Scn9a	T	C	2: 66,543,112	I508V	probably benign	Het
Sec14l3	A	G	11: 4,074,795	D248G	probably damaging	Het
Six6	A	T	12: 72,940,543	Q163L	probably benign	Het
Slco6c1	A	G	1: 97,062,467	V683A	possibly damaging	Het
Smc1b	A	G	15: 85,066,328	V1165A	probably damaging	Het
Smgc	A	T	15: 91,847,076	Q241L	possibly damaging	Het
Tdrp	A	T	8: 13,955,727	S65T	probably damaging	Het
Tg	A	T	15: 66,683,814	Y785F	probably damaging	Het
Themis2	T	G	4: 132,789,643	Q182P	probably damaging	Het
Tmem86b	G	T	7: 4,628,405	S216*	probably null	Het
Ttyh2	T	A	11: 114,686,446	I61N	possibly damaging	Het
Vmn2r97	A	T	17: 18,929,540	T397S	probably benign	Het
Zfp141	C	T	7: 42,476,479	D190N	probably damaging	Het
Zfp58	T	C	13: 67,491,995	R126G	possibly damaging	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
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'- CAGCCCAGGCCTATCTGATTTC -3'
(R):5'- TTCTGCATATCGCTCGTGAG -3'

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

Posted On

2019-12-20