Mutagenetix > Incidental Mutations

Incidental Mutation 'R1975:Rpa1'

221611

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

039988-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75306176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 540 (C540R)

Ref Sequence

ENSEMBL: ENSMUSP00000090585 (fasta)

Gene Model

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

AlphaFold

Q8VEE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000000767
AA Change: C561R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: C561R

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: C540R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: C540R

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

Meta Mutation Damage Score

0.8269

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,604,259	T429A	probably benign	Het
Afmid	A	C	11: 117,836,474	I275L	probably benign	Het
Aimp1	A	C	3: 132,677,099	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171	A319V	probably benign	Het
Ankar	C	T	1: 72,658,441	V1068I	possibly damaging	Het
Ccr2	C	T	9: 124,106,793	S370L	probably benign	Het
Chrnb4	A	G	9: 55,034,818	Y391H	probably damaging	Het
Clip1	A	G	5: 123,623,218	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,890,478	G1409R	probably damaging	Het
Dnah17	A	T	11: 118,096,536	L1320*	probably null	Het
Dock4	T	C	12: 40,779,642		probably benign	Het
Eml4	T	C	17: 83,410,193	S65P	probably benign	Het
Fblim1	A	T	4: 141,584,864	D183E	probably damaging	Het
Foxn1	T	C	11: 78,365,937		probably benign	Het
Gm973	A	T	1: 59,562,771	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,806,505	Q495*	probably null	Het
Hipk3	T	C	2: 104,471,173	I225V	probably benign	Het
Hrc	A	T	7: 45,336,214	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,138,476	I21T	probably benign	Het
Il15ra	A	G	2: 11,723,523	T133A	possibly damaging	Het
Krt78	T	C	15: 101,946,168	*1069W	probably null	Het
Lama3	T	A	18: 12,453,863	M761K	probably damaging	Het
Lonp1	T	C	17: 56,615,068	T771A	possibly damaging	Het
Macf1	T	C	4: 123,489,212	T1320A	probably damaging	Het
Mark3	A	T	12: 111,615,441	I115L	probably damaging	Het
Mcph1	T	G	8: 18,689,065		probably benign	Het
Med23	T	A	10: 24,910,766	N923K	probably benign	Het
Msrb2	T	G	2: 19,393,221	Y97D	probably damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Mylk	T	C	16: 34,880,303		probably null	Het
Nfrkb	T	A	9: 31,414,684	V1141E	possibly damaging	Het
Obscn	T	C	11: 59,067,729	E3675G	probably damaging	Het
Olfr1053	C	G	2: 86,315,154	G44A	probably damaging	Het
Olfr167	G	A	16: 19,514,836	P267S	probably damaging	Het
Olfr203	T	C	16: 59,303,728	S193P	probably damaging	Het
Olfr612	A	T	7: 103,538,994	F80Y	probably damaging	Het
Olfr619	A	G	7: 103,604,012		probably null	Het
Olfr720	A	T	14: 14,175,446	V212E	probably damaging	Het
Olfr746	T	A	14: 50,653,364	N42K	probably damaging	Het
Pan2	T	C	10: 128,320,413	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,209,245	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,529,713	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,141,256	I337V	probably benign	Het
Psma8	T	G	18: 14,730,976		probably null	Het
Rbl2	T	C	8: 91,085,462	S220P	probably benign	Het
Rere	T	A	4: 150,615,733	D1091E	probably damaging	Het
Sema3d	T	A	5: 12,563,318	V454E	probably damaging	Het
Sema3d	T	C	5: 12,584,998	V677A	probably benign	Het
Sgk2	A	G	2: 163,004,160	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,379,081	I370V	probably benign	Het
Slc22a19	A	G	19: 7,683,859		probably benign	Het
Slc26a1	T	A	5: 108,672,472	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,734,210	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Slco2a1	T	A	9: 103,079,454	Y488*	probably null	Het
Stab2	A	C	10: 86,896,496		probably null	Het
Strn	T	C	17: 78,692,499		probably null	Het
Tbxas1	A	G	6: 38,948,641		probably benign	Het
Thumpd3	A	G	6: 113,055,877	N192S	possibly damaging	Het
Tns3	T	A	11: 8,435,738	I1386F	probably benign	Het
Treml4	T	A	17: 48,272,793	V219E	probably damaging	Het
Triobp	T	C	15: 78,966,708	V354A	probably benign	Het
Tspan8	A	G	10: 115,844,130	I217V	probably benign	Het
Tub	G	A	7: 109,027,835	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,399,865	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,255,551	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,504,221	E309K	probably damaging	Het
Zfp110	C	T	7: 12,848,502	T359I	probably benign	Het
Zfp322a	A	T	13: 23,356,904	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,587,085	R696*	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
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
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'- GCATTCCCTGACGCATTACC -3'
(R):5'- AACCGTTAACCAAAGAGTCGG -3'

Sequencing Primer
(F):5'- TGACGCATTACCTCACACCAG -3'
(R):5'- TTAACCAAAGAGTCGGGGGCTG -3'

Posted On

2014-08-25