Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Rpa1'

236742

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

039102-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 75312973 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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

93% (38/41)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505 (GRCm38)	S119N	probably benign	Het
4930503L19Rik	T	A	18: 70,467,926 (GRCm38)		probably null	Het
5430419D17Rik	T	C	7: 131,238,182 (GRCm38)	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853 (GRCm38)	T324A	probably benign	Het
Adamts20	T	A	15: 94,286,371 (GRCm38)	Q1517L	probably benign	Het
AI429214	A	G	8: 36,994,319 (GRCm38)	Q207R	probably benign	Het
Arhgef7	A	G	8: 11,819,659 (GRCm38)	T432A	possibly damaging	Het
Atad2b	A	G	12: 5,031,784 (GRCm38)	N1231S	probably benign	Het
Atp13a1	T	C	8: 69,802,144 (GRCm38)		probably null	Het
Atp6v0a1	T	A	11: 101,055,491 (GRCm38)	L770*	probably null	Het
Atp8b3	T	C	10: 80,534,198 (GRCm38)	N127S	probably damaging	Het
B3gnt5	T	A	16: 19,770,010 (GRCm38)	D326E	probably damaging	Het
Birc6	T	A	17: 74,565,861 (GRCm38)	S372T	probably damaging	Het
Btbd9	T	A	17: 30,299,633 (GRCm38)	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992 (GRCm38)	*366W	probably null	Het
Cdh18	T	A	15: 23,473,995 (GRCm38)	D650E	probably damaging	Het
Cenpc1	A	T	5: 86,037,908 (GRCm38)	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899 (GRCm38)	S574P	probably benign	Het
Chd2	A	G	7: 73,478,664 (GRCm38)	S858P	probably damaging	Het
Cib4	T	C	5: 30,488,594 (GRCm38)	D110G	probably damaging	Het
Col9a2	T	A	4: 121,039,788 (GRCm38)		probably null	Het
Csmd2	A	T	4: 128,496,188 (GRCm38)	I2239F	possibly damaging	Het
Csmd3	C	A	15: 47,659,089 (GRCm38)	G2728V	probably damaging	Het
Cxcl1	A	T	5: 90,891,767 (GRCm38)	K85*	probably null	Het
Cyp2d11	A	G	15: 82,389,529 (GRCm38)	L416P	possibly damaging	Het
Daam1	A	C	12: 71,915,784 (GRCm38)	K90T	unknown	Het
Depdc5	T	A	5: 32,986,966 (GRCm38)	M1435K	possibly damaging	Het
Diexf	A	T	1: 193,114,703 (GRCm38)	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908 (GRCm38)	A632T	probably damaging	Het
Dld	A	T	12: 31,334,054 (GRCm38)	I350N	probably damaging	Het
Dmtf1	T	A	5: 9,127,987 (GRCm38)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145 (GRCm38)	V3081A	probably damaging	Het
Efemp1	A	G	11: 28,854,538 (GRCm38)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104 (GRCm38)	D65G	probably damaging	Het
Fsip2	A	T	2: 82,977,092 (GRCm38)	T1252S	probably benign	Het
Gm13084	T	C	4: 143,811,858 (GRCm38)	Y181C	probably damaging	Het
Gm4847	A	G	1: 166,630,255 (GRCm38)	S510P	probably benign	Het
Golga4	T	C	9: 118,537,273 (GRCm38)	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543 (GRCm38)	L65Q	probably damaging	Het
Ibtk	T	C	9: 85,743,577 (GRCm38)	Y40C	probably damaging	Het
Ice1	C	A	13: 70,602,427 (GRCm38)	V1847L	probably benign	Het
Ift172	C	T	5: 31,265,355 (GRCm38)	R917H	probably benign	Het
Itgae	C	T	11: 73,138,509 (GRCm38)	Q1037*	probably null	Het
Kbtbd7	A	G	14: 79,427,430 (GRCm38)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576 (GRCm38)	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158 (GRCm38)		probably null	Het
Lrfn5	G	A	12: 61,843,437 (GRCm38)	G504D	probably damaging	Het
Macf1	A	G	4: 123,476,000 (GRCm38)	V91A	possibly damaging	Het
Map6	G	A	7: 99,336,743 (GRCm38)	G821D	possibly damaging	Het
Mark1	A	C	1: 184,921,604 (GRCm38)	V167G	probably damaging	Het
Mrgprf	T	A	7: 145,308,256 (GRCm38)	L185Q	probably damaging	Het
Mtor	T	A	4: 148,550,188 (GRCm38)	V2422D	probably damaging	Het
Myh13	T	A	11: 67,332,520 (GRCm38)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427 (GRCm38)	C350Y	probably benign	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986 (GRCm38)	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978 (GRCm38)	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184 (GRCm38)	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008 (GRCm38)	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706 (GRCm38)	S156P	probably damaging	Het
Olfr912	T	A	9: 38,581,283 (GRCm38)	V2D	possibly damaging	Het
Pacs1	A	T	19: 5,143,829 (GRCm38)	D557E	probably damaging	Het
Pde1c	A	G	6: 56,361,815 (GRCm38)	F11L	probably benign	Het
Phactr2	T	C	10: 13,247,139 (GRCm38)	D343G	possibly damaging	Het
Piezo2	T	C	18: 63,015,802 (GRCm38)	Y2659C	probably damaging	Het
Pkd2l2	A	G	18: 34,428,252 (GRCm38)	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081 (GRCm38)	W857R	probably damaging	Het
Plxnb1	T	C	9: 109,102,142 (GRCm38)	V410A	possibly damaging	Het
Ptger2	A	G	14: 44,989,500 (GRCm38)	Y179C	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rcan1	A	T	16: 92,393,520 (GRCm38)	M177K	probably benign	Het
Rilpl1	A	G	5: 124,501,888 (GRCm38)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,501,871 (GRCm38)	S156P	probably benign	Het
Rims4	C	T	2: 163,863,929 (GRCm38)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,634,870 (GRCm38)	V260A	probably benign	Het
Sel1l	T	C	12: 91,824,860 (GRCm38)	Y309C	probably damaging	Het
Setd1b	GCCCCCCC	GCCCCCCCCCCCCC	5: 123,160,703 (GRCm38)		probably benign	Het
Slc33a1	A	G	3: 63,943,304 (GRCm38)	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858 (GRCm38)	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721 (GRCm38)		probably null	Het
Spef2	A	G	15: 9,716,396 (GRCm38)	F368S	probably damaging	Het
Sri	A	T	5: 8,059,381 (GRCm38)	Q55L	probably damaging	Het
Stat4	A	G	1: 52,096,820 (GRCm38)	I429M	probably damaging	Het
Stkld1	A	T	2: 26,951,450 (GRCm38)	Q469L	probably benign	Het
Tm9sf1	T	C	14: 55,642,935 (GRCm38)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218 (GRCm38)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060 (GRCm38)	P124S	possibly damaging	Het
Tmem81	G	A	1: 132,507,924 (GRCm38)	R156Q	probably damaging	Het
Trpv6	T	A	6: 41,625,188 (GRCm38)	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079 (GRCm38)	Y780*	probably null	Het
Vmn1r120	A	G	7: 21,053,016 (GRCm38)	C257R	probably damaging	Het
Vmn2r53	A	G	7: 12,601,392 (GRCm38)	F114L	probably damaging	Het
Vwf	A	G	6: 125,643,006 (GRCm38)	E1549G	probably damaging	Het
Zfp626	G	A	7: 27,818,482 (GRCm38)	R296H	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
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
R6083:Rpa1	UTSW	11	75,314,911 (GRCm38)	missense	probably damaging	1.00
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'- CGAATCTTCATAGCTCTTGCAG -3'
(R):5'- GAGTAGCTTGCCCTGACTTG -3'

Sequencing Primer
(F):5'- GCTCTTGCAGATTCCAATGATG -3'
(R):5'- GTATTACTTCTCAAAGGGCGC -3'

Posted On

2014-10-02