Mutagenetix > Incidental Mutations

Incidental Mutation 'R5008:Rpa1'

390298

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

042599-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5008 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 75313299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090585 (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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154894

Meta Mutation Damage Score

0.9501

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (73/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767	T242R	probably damaging	Het
2310057N15Rik	A	G	16: 88,773,775	Y126H	probably damaging	Het
Catsperg1	A	T	7: 29,195,434	Y579*	probably null	Het
Chchd5	A	T	2: 129,130,399		probably null	Het
Chd1l	T	C	3: 97,583,908	N423D	probably damaging	Het
Cntnap1	G	A	11: 101,188,741	W1268*	probably null	Het
Col2a1	G	A	15: 97,979,669	A1011V	probably benign	Het
Cst11	A	G	2: 148,770,405	I104T	probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Dnah17	A	G	11: 118,110,577	F847L	probably benign	Het
Dspp	A	T	5: 104,175,573	H194L	possibly damaging	Het
Dyx1c1	T	C	9: 72,972,318		probably benign	Het
Frmd5	C	A	2: 121,548,860	R414L	probably damaging	Het
Galnt3	C	A	2: 66,085,241	R592L	probably benign	Het
Gm13128	A	G	4: 144,331,266	S148G	probably benign	Het
Gm38706	T	A	6: 130,484,617		noncoding transcript	Het
Gm38706	T	A	6: 130,485,020		noncoding transcript	Het
Hivep3	A	G	4: 120,098,917	K1477E	probably benign	Het
Igsf3	C	T	3: 101,450,917	T708M	probably damaging	Het
Ikzf4	T	G	10: 128,641,250	E64A	probably benign	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Krt83	T	A	15: 101,491,224	I76F	probably damaging	Het
Lat2	A	G	5: 134,603,137	V152A	probably benign	Het
Lrp12	C	T	15: 39,878,456	D288N	probably damaging	Het
Mdp1	C	T	14: 55,659,226	R126Q	probably damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Muc6	G	A	7: 141,639,559		probably benign	Het
Myh4	T	A	11: 67,253,532	S1243T	probably benign	Het
Myo3b	T	A	2: 70,258,068	F892I	probably damaging	Het
Nckap5l	T	C	15: 99,425,850	N924S	possibly damaging	Het
Npnt	C	T	3: 132,906,457	C218Y	probably damaging	Het
Olfr434	T	A	6: 43,217,057	I48N	probably damaging	Het
Olfr715b	A	T	7: 107,106,081	M260K	probably damaging	Het
Olfr8	T	A	10: 78,956,071	F289I	probably damaging	Het
Pfkm	G	A	15: 98,122,689	C233Y	probably benign	Het
Pigq	A	G	17: 25,934,203	V338A	probably benign	Het
Pld4	A	T	12: 112,768,050	N415I	possibly damaging	Het
Pmm1	A	T	15: 81,957,894		probably null	Het
Polg	G	T	7: 79,460,074	P394T	probably damaging	Het
Polq	A	T	16: 37,062,387	I1359L	probably benign	Het
Pros1	A	G	16: 62,928,185	N674D	possibly damaging	Het
Psme4	T	A	11: 30,856,896		probably benign	Het
Rasa3	A	T	8: 13,584,959	C453*	probably null	Het
Repin1	T	C	6: 48,596,608	V101A	probably damaging	Het
Rnf186	A	T	4: 138,967,229	M27L	probably benign	Het
Rph3a	G	T	5: 120,945,391	N605K	probably damaging	Het
Rps18	A	T	17: 33,952,284		probably null	Het
Scgn	A	G	13: 23,990,975	I20T	probably damaging	Het
Skint6	A	T	4: 112,991,255	V652E	possibly damaging	Het
Slc23a2	T	C	2: 132,101,494	H29R	probably damaging	Het
Slc34a3	C	T	2: 25,230,842	V383I	possibly damaging	Het
Slc5a1	A	G	5: 33,152,573	M382V	possibly damaging	Het
Slc5a3	T	A	16: 92,077,281	S75R	probably damaging	Het
Stat5b	G	C	11: 100,802,483	H111D	probably benign	Het
Tanc2	G	A	11: 105,625,060	M1I	probably null	Het
Tbcel	C	T	9: 42,416,123	G328E	probably damaging	Het
Tecta	C	A	9: 42,373,062	R909L	possibly damaging	Het
Tnip1	A	T	11: 54,937,984	M119K	probably benign	Het
Wdr34	C	A	2: 30,032,769	R322L	probably benign	Het
Zbbx	A	C	3: 75,151,448	S51A	possibly damaging	Het
Zc3h12c	T	C	9: 52,116,700	N454S	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	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
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'- TTCACAGGGAAGGACAGAAGTCTC -3'
(R):5'- ACTTGGACTGTTGCTCCGAG -3'

Sequencing Primer
(F):5'- ACAGCGGAGAACTGTTTGTTAGC -3'
(R):5'- CTCCGAGGATGGTGTCTAAC -3'

Posted On

2016-06-06