Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Rpa1'

482322

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

044242-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75314911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 207 (T207A)

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: T228A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: T228A

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: T207A

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

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: T207A

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

0.4256

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,878,851 (GRCm38)	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,963,996 (GRCm38)	I591F	unknown	Het
Ace	C	A	11: 105,985,267 (GRCm38)	Y816*	probably null	Het
Ahnak2	A	G	12: 112,782,612 (GRCm38)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,782,999 (GRCm38)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,907,751 (GRCm38)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,992,748 (GRCm38)	T257A	probably benign	Het
Bora	A	T	14: 99,062,294 (GRCm38)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,596,926 (GRCm38)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,774,625 (GRCm38)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 87,057,168 (GRCm38)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,073,762 (GRCm38)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,849,456 (GRCm38)	V394E	probably damaging	Het
Dedd2	G	A	7: 25,211,290 (GRCm38)	P154S	probably benign	Het
Defb36	A	T	2: 152,604,488 (GRCm38)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm38)	D263G	probably benign	Het
Dock10	T	C	1: 80,532,431 (GRCm38)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,622,328 (GRCm38)		probably null	Het
Eif3e	A	G	15: 43,266,144 (GRCm38)	I196T	probably damaging	Het
Ercc4	T	A	16: 13,110,039 (GRCm38)	C24*	probably null	Het
Fmn1	A	G	2: 113,364,303 (GRCm38)	E116G	unknown	Het
Gnas	A	G	2: 174,297,862 (GRCm38)	M1V	probably null	Het
Grin2a	C	A	16: 9,579,540 (GRCm38)	M894I	probably benign	Het
Herc2	G	T	7: 56,228,505 (GRCm38)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,755,293 (GRCm38)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,755,294 (GRCm38)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,712,056 (GRCm38)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,619,817 (GRCm38)	F133C	possibly damaging	Het
Itih2	T	C	2: 10,108,894 (GRCm38)		probably benign	Het
Itsn1	T	C	16: 91,853,011 (GRCm38)	L191P	probably benign	Het
Kdr	T	C	5: 75,944,366 (GRCm38)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,182,756 (GRCm38)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,809,041 (GRCm38)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,836,588 (GRCm38)	R38*	probably null	Het
Med13l	T	C	5: 118,721,486 (GRCm38)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,148,049 (GRCm38)	T248S	probably benign	Het
Mslnl	T	A	17: 25,737,902 (GRCm38)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,657,212 (GRCm38)	T1337I	unknown	Het
Nek7	C	T	1: 138,515,654 (GRCm38)	S187N	probably damaging	Het
Neto2	A	G	8: 85,640,585 (GRCm38)	V538A	probably benign	Het
Nktr	T	C	9: 121,750,136 (GRCm38)		probably benign	Het
Npy6r	A	G	18: 44,276,492 (GRCm38)	K327E	probably damaging	Het
Olfr1230	T	A	2: 89,297,024 (GRCm38)	D82V	probably damaging	Het
Olfr1245	T	C	2: 89,575,672 (GRCm38)	D18G	probably benign	Het
Olfr1463	A	T	19: 13,234,525 (GRCm38)	I92F	probably benign	Het
Olfr402	A	G	11: 74,155,570 (GRCm38)	M139V	possibly damaging	Het
Olfr705	A	G	7: 106,873,582 (GRCm38)	I221T	probably damaging	Het
Pcdhga4	A	T	18: 37,687,425 (GRCm38)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,502,879 (GRCm38)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,304,035 (GRCm38)	Y486*	probably null	Het
Plch2	A	G	4: 155,000,818 (GRCm38)	M272T	probably benign	Het
Rbm12	G	A	2: 156,097,726 (GRCm38)		probably benign	Het
Rgs19	T	C	2: 181,689,507 (GRCm38)	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,210,066 (GRCm38)	N145S	probably damaging	Het
Rnf4	T	A	5: 34,351,221 (GRCm38)		probably null	Het
Rufy4	A	C	1: 74,129,397 (GRCm38)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,422,985 (GRCm38)	S717R	probably benign	Het
Sin3a	A	T	9: 57,107,540 (GRCm38)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 125,468,473 (GRCm38)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 76,147,597 (GRCm38)	I23V	unknown	Het
Slitrk5	A	G	14: 111,681,725 (GRCm38)	N927S	probably benign	Het
Smc6	A	G	12: 11,276,353 (GRCm38)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,008,031 (GRCm38)		probably benign	Het
Stxbp1	A	G	2: 32,796,018 (GRCm38)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,147,380 (GRCm38)	L209F	probably damaging	Het
Tll1	G	T	8: 64,038,586 (GRCm38)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm38)	L60S	probably damaging	Het
Trib1	G	A	15: 59,654,475 (GRCm38)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,366,142 (GRCm38)	V13A	probably damaging	Het
Trip11	G	A	12: 101,889,742 (GRCm38)	T425I	probably benign	Het
Ttn	C	A	2: 76,889,973 (GRCm38)		probably benign	Het
Tymp	GC	GCC	15: 89,374,364 (GRCm38)		probably null	Het
Ush2a	T	A	1: 188,267,023 (GRCm38)	S177T	probably damaging	Het
Usp40	A	T	1: 87,978,559 (GRCm38)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,272,719 (GRCm38)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,354,758 (GRCm38)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,196,318 (GRCm38)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,464,210 (GRCm38)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,581,881 (GRCm38)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,406,503 (GRCm38)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,728,469 (GRCm38)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,037,601 (GRCm38)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,844,675 (GRCm38)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,815,931 (GRCm38)	V134A	probably damaging	Het

Other mutations in Rpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Rpa1	APN	11	75,312,315 (GRCm38)	missense	probably damaging	1.00
IGL01347:Rpa1	APN	11	75,307,285 (GRCm38)	missense	probably damaging	1.00
IGL02976:Rpa1	APN	11	75,312,802 (GRCm38)	missense	probably damaging	0.99
IGL03169:Rpa1	APN	11	75,301,357 (GRCm38)	missense	probably damaging	0.97
nonnae	UTSW	11	75,314,895 (GRCm38)	missense	probably damaging	1.00
vomica	UTSW	11	75,340,345 (GRCm38)	missense	possibly damaging	0.89
FR4976:Rpa1	UTSW	11	75,318,519 (GRCm38)	small deletion	probably benign
PIT4576001:Rpa1	UTSW	11	75,313,158 (GRCm38)	missense	probably damaging	1.00
R0017:Rpa1	UTSW	11	75,314,861 (GRCm38)	missense	probably null	1.00
R0017:Rpa1	UTSW	11	75,314,861 (GRCm38)	missense	probably null	1.00
R0126:Rpa1	UTSW	11	75,318,529 (GRCm38)	missense	probably benign	0.00
R0240:Rpa1	UTSW	11	75,328,687 (GRCm38)	missense	probably benign	0.01
R0240:Rpa1	UTSW	11	75,328,687 (GRCm38)	missense	probably benign	0.01
R0465:Rpa1	UTSW	11	75,313,095 (GRCm38)	missense	probably damaging	0.99
R0718:Rpa1	UTSW	11	75,318,401 (GRCm38)	splice site	probably benign
R0973:Rpa1	UTSW	11	75,312,973 (GRCm38)	splice site	probably null
R1055:Rpa1	UTSW	11	75,302,732 (GRCm38)	missense	probably damaging	1.00
R1172:Rpa1	UTSW	11	75,312,393 (GRCm38)	missense	probably damaging	1.00
R1642:Rpa1	UTSW	11	75,312,691 (GRCm38)	critical splice donor site	probably null
R1883:Rpa1	UTSW	11	75,318,483 (GRCm38)	missense	probably benign
R1975:Rpa1	UTSW	11	75,306,176 (GRCm38)	missense	probably damaging	1.00
R5008:Rpa1	UTSW	11	75,313,299 (GRCm38)	critical splice donor site	probably null
R5279:Rpa1	UTSW	11	75,313,344 (GRCm38)	missense	probably damaging	0.96
R6161:Rpa1	UTSW	11	75,314,895 (GRCm38)	missense	probably damaging	1.00
R6187:Rpa1	UTSW	11	75,310,236 (GRCm38)	missense	probably benign	0.00
R6762:Rpa1	UTSW	11	75,340,345 (GRCm38)	missense	possibly damaging	0.89
R6828:Rpa1	UTSW	11	75,314,871 (GRCm38)	missense	probably damaging	1.00
R7044:Rpa1	UTSW	11	75,312,802 (GRCm38)	missense	probably damaging	0.99
R7331:Rpa1	UTSW	11	75,313,115 (GRCm38)	missense	probably damaging	0.98
R7798:Rpa1	UTSW	11	75,312,809 (GRCm38)	missense	probably damaging	0.96
R7890:Rpa1	UTSW	11	75,307,224 (GRCm38)	frame shift	probably null
R7938:Rpa1	UTSW	11	75,307,224 (GRCm38)	frame shift	probably null
R8116:Rpa1	UTSW	11	75,302,675 (GRCm38)	missense	possibly damaging	0.90
R8258:Rpa1	UTSW	11	75,302,724 (GRCm38)	missense	probably benign	0.03
R8259:Rpa1	UTSW	11	75,302,724 (GRCm38)	missense	probably benign	0.03
R8837:Rpa1	UTSW	11	75,313,341 (GRCm38)	missense	possibly damaging	0.70
R9169:Rpa1	UTSW	11	75,310,173 (GRCm38)	nonsense	probably null
R9789:Rpa1	UTSW	11	75,313,112 (GRCm38)	missense	probably damaging	0.97
RF018:Rpa1	UTSW	11	75,318,517 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGATAGCATCAAAGGTCTCCAACAG -3'
(R):5'- AAACCTGTTTGTCATCTTGGGG -3'

Posted On

2017-07-14