Mutagenetix > Incidental Mutations

Incidental Mutation 'R6187:Rpa1'

502253

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

044327-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 75310236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 433 (G433A)

Ref Sequence

ENSEMBL: ENSMUSP00000090585 (fasta)

Gene Model

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

AlphaFold

Q8VEE4

Predicted Effect

probably benign
Transcript: ENSMUST00000000767
AA Change: G454A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: G454A

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 benign
Transcript: ENSMUST00000092907
AA Change: G433A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: G433A

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

0.0817

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	A	7: 131,270,599		probably benign	Het
Abca13	T	A	11: 9,309,085	L2937H	probably damaging	Het
Abca3	A	G	17: 24,408,167	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,068,619	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,250,993	P61S	probably damaging	Het
Adamts6	C	T	13: 104,297,425	P121S	probably damaging	Het
AF529169	A	G	9: 89,591,167	I897T	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ak1	G	A	2: 32,633,477	V186M	probably damaging	Het
Alpk1	T	C	3: 127,673,342	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,279,690	Y73*	probably null	Het
Asah2	A	T	19: 32,024,867	S292R	probably damaging	Het
Atp6v1b1	A	T	6: 83,752,395	T105S	probably damaging	Het
Axdnd1	T	A	1: 156,365,612		probably null	Het
Bub1b	T	G	2: 118,631,000	S678A	probably damaging	Het
Cenpq	T	A	17: 40,927,198	M142L	probably benign	Het
Ciz1	T	A	2: 32,370,051	V203E	possibly damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Cyp2c68	A	T	19: 39,741,008	S12T	probably benign	Het
Cyp4f18	C	A	8: 71,993,186	A322S	probably damaging	Het
Disp2	A	G	2: 118,792,143	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,457,157	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,276,264	S278P	probably damaging	Het
Fpr1	G	T	17: 17,876,928	C266*	probably null	Het
Fsip2	T	C	2: 82,982,454	I3039T	probably benign	Het
Gas1	G	T	13: 60,176,372	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,013,585	T37A	probably damaging	Het
Gm21370	T	C	13: 120,026,867	I49V	probably benign	Het
Gm8444	T	C	15: 81,843,606		probably benign	Het
Gpr1	T	C	1: 63,183,275	E267G	probably damaging	Het
Gria1	A	G	11: 57,238,110	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,249,860	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,630,728	D3776G	probably damaging	Het
Itfg1	A	C	8: 85,836,465	V102G	probably damaging	Het
Kidins220	A	G	12: 25,051,308		probably null	Het
Kif13b	A	C	14: 64,736,215	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,547,258	Y145C	probably damaging	Het
Magel2	A	G	7: 62,377,641	M98V	unknown	Het
Mdfic	T	C	6: 15,721,197		probably benign	Het
Mlip	G	A	9: 77,230,482	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,147,017	L3475P	probably damaging	Het
Myh14	G	A	7: 44,627,033	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,480,238	I914F	probably benign	Het
Nupl1	T	C	14: 60,240,807		probably null	Het
Olfr1115	T	A	2: 87,252,698	S254T	probably damaging	Het
Olfr120	T	C	17: 37,726,141	L48P	probably damaging	Het
Olfr1383	G	T	11: 49,523,511		probably benign	Het
Olfr469	A	T	7: 107,822,574	N298K	probably benign	Het
Olfr535	A	G	7: 140,492,616		probably benign	Het
Olfr724	A	G	14: 49,961,069	M1T	probably null	Het
Olfr835	A	C	9: 19,035,393	Q90P	probably benign	Het
Otx1	A	T	11: 21,999,406	L24H	probably damaging	Het
Oxr1	A	G	15: 41,825,919	Q513R	probably damaging	Het
Padi1	C	T	4: 140,826,965	V310M	probably damaging	Het
Pard3	T	C	8: 127,073,273	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,448,444	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,342,569	R253G	probably benign	Het
Plxnb2	C	T	15: 89,167,258	D253N	probably damaging	Het
Ppp2cb	T	C	8: 33,615,474	S171P	probably damaging	Het
Prr5	C	T	15: 84,693,772	T94M	probably damaging	Het
Rp1	A	G	1: 4,349,869	F340S	probably damaging	Het
Smg1	A	T	7: 118,189,163		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,678,210	M226T	probably damaging	Het
Tbk1	T	C	10: 121,584,243	I14V	probably benign	Het
Tekt4	G	C	17: 25,472,223	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,527,546	T232S	probably damaging	Het
Trio	C	T	15: 27,743,952		probably null	Het
Ttn	T	A	2: 76,944,437	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,362,729	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,007,322	F339L	probably damaging	Het
Unc5b	T	C	10: 60,772,224	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,724,780	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,106,626	V391A	probably benign	Het
Vps13c	C	T	9: 67,915,657	R1327W	probably damaging	Het
Yes1	A	G	5: 32,645,041	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,559,009	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,915,446	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,231		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
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
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'- AAAAGCAGCAACGTGGTACC -3'
(R):5'- CATTGCATTTCTTGAGTGGACTAGG -3'

Sequencing Primer
(F):5'- CTGACCTGGCACTAGGAAACAG -3'
(R):5'- GGACTAGGTGTGCTGAGACC -3'

Posted On

2018-02-27