Mutagenetix > Incidental Mutations

Incidental Mutation 'R0017:Rpa1'

19362

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

038312-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0017 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 75314861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 223 (N223K)

Ref Sequence

ENSEMBL: ENSMUSP00000090585 (fasta)

Gene Model

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

AlphaFold

Q8VEE4

Predicted Effect

probably null
Transcript: ENSMUST00000000767
AA Change: N244K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: N244K

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
AA Change: N223K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: N223K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198372

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.2%

Validation Efficiency

96% (76/79)

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
1700010I14Rik	G	T	17: 9,008,106		probably benign	Het
Abca13	T	A	11: 9,292,775	I1546N	probably damaging	Het
Actrt3	A	T	3: 30,598,273	M224K	probably benign	Het
Adgrv1	T	C	13: 81,578,946	N429S	probably benign	Het
Appbp2	A	C	11: 85,214,303	C146G	possibly damaging	Het
Cabp2	A	C	19: 4,086,242	D83A	possibly damaging	Het
Ccl1	A	G	11: 82,178,017		probably null	Het
Cdca8	T	C	4: 124,920,375	T208A	probably benign	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Dcdc5	G	A	2: 106,357,196		noncoding transcript	Het
Efr3b	C	A	12: 3,993,003	C89F	probably damaging	Het
Enpp3	C	T	10: 24,799,153		probably null	Het
Ep400	A	T	5: 110,673,529	V2467E	probably damaging	Het
Ermap	T	C	4: 119,179,948		probably benign	Het
Fig4	A	G	10: 41,273,007	Y150H	possibly damaging	Het
Fsip2	G	A	2: 82,992,072	V6050M	probably damaging	Het
Gm11397	A	C	13: 33,404,511	I360L	probably damaging	Het
Gnb1l	T	C	16: 18,541,060	W72R	probably damaging	Het
Gpld1	A	G	13: 24,990,118	D842G	probably damaging	Het
Hmgcr	A	G	13: 96,652,089		probably benign	Het
Hrc	A	G	7: 45,336,370	H315R	possibly damaging	Het
Ifit2	A	T	19: 34,573,573	N171I	probably damaging	Het
Ipo11	T	A	13: 106,886,730	I416L	probably benign	Het
Kcnab1	G	A	3: 65,357,106	V259M	probably damaging	Het
Kcng4	T	C	8: 119,633,520	Y39C	probably damaging	Het
Kif5c	A	G	2: 49,732,713	T526A	probably benign	Het
Kntc1	A	G	5: 123,780,981	Y805C	probably damaging	Het
Mal	A	G	2: 127,640,307	S59P	probably damaging	Het
Myh15	A	G	16: 49,163,060	N1513D	probably damaging	Het
Ncoa2	A	G	1: 13,174,752	L574P	probably damaging	Het
Nmd3	A	G	3: 69,736,092		probably null	Het
Nucb2	A	G	7: 116,533,151	D331G	probably benign	Het
Nwd1	T	C	8: 72,709,425		probably benign	Het
Nynrin	T	C	14: 55,872,395	F1653S	probably damaging	Het
Olfr1253	A	C	2: 89,752,021	I269S	possibly damaging	Het
Olfr371	T	A	8: 85,231,077	I194N	probably benign	Het
Olfr875	T	G	9: 37,772,978	F106L	probably benign	Het
Pfdn6	T	C	17: 33,939,564	R79G	probably damaging	Het
Pkd1	G	T	17: 24,578,539		probably null	Het
Pramel4	T	G	4: 144,068,344	C434G	probably benign	Het
Ptpn13	T	C	5: 103,486,772		probably null	Het
Ptpro	T	C	6: 137,416,827	V831A	probably benign	Het
Rabl6	A	T	2: 25,602,567		probably benign	Het
Reg3b	T	A	6: 78,372,861	M128K	possibly damaging	Het
Rif1	A	G	2: 52,116,674	T2207A	probably benign	Het
Rras2	T	C	7: 114,048,255		probably benign	Het
Ryr1	T	A	7: 29,047,542	E3760V	probably damaging	Het
Scyl3	T	A	1: 163,939,969	I204N	possibly damaging	Het
Slc16a12	A	G	19: 34,672,698		probably benign	Het
Slc22a1	A	G	17: 12,659,759	F356L	probably damaging	Het
Slc22a29	A	G	19: 8,218,266		probably benign	Het
Slc45a1	C	A	4: 150,629,566	D741Y	possibly damaging	Het
Slco1a5	A	T	6: 142,236,335		probably benign	Het
Smg5	G	T	3: 88,351,105	R461L	probably damaging	Het
Snrk	T	C	9: 122,166,240	S362P	probably damaging	Het
Spata31d1b	A	G	13: 59,716,069	S344G	probably benign	Het
Sync	G	A	4: 129,293,744	V190M	probably damaging	Het
Taf5l	T	C	8: 124,003,644	Y67C	probably damaging	Het
Tbkbp1	A	G	11: 97,146,289		probably benign	Het
Tshr	A	T	12: 91,537,886	I533F	possibly damaging	Het
Tsn	T	C	1: 118,300,859	D211G	probably damaging	Het
Ttn	G	A	2: 76,791,644	T15518I	probably benign	Het
Unc13c	T	C	9: 73,693,301	D1387G	probably benign	Het
Vapb	A	G	2: 173,771,604	T99A	probably benign	Het
Vmn2r-ps119	A	G	17: 19,153,617		noncoding transcript	Het
Zfp280d	A	T	9: 72,339,010		probably null	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
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'- AGCCACAATGACCGCCATGTTC -3'
(R):5'- CCTTTTATGGTAGGCGCTCTCTCAG -3'

Sequencing Primer
(F):5'- CCATGTTCCTCGGAGCTG -3'
(R):5'- CGGCTCCTGTAATTGAAAATAGTGG -3'

Posted On

2013-04-11