Mutagenetix > Incidental Mutations

Incidental Mutation 'R8116:Rpa1'

631217

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75302675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 610 (T610I)

Ref Sequence

ENSEMBL: ENSMUSP00000000767 (fasta)

Gene Model

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

AlphaFold

Q8VEE4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000767
AA Change: T610I

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: T610I

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

possibly damaging
Transcript: ENSMUST00000092907
AA Change: T589I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: T589I

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,091,594	N7K	probably benign	Het
Akap9	T	A	5: 4,061,183	D3081E	probably benign	Het
Amer2	G	A	14: 60,379,405	A350T	probably damaging	Het
Amotl1	A	G	9: 14,555,572		probably null	Het
Ankib1	A	T	5: 3,702,995	V651E	probably damaging	Het
Aox1	T	C	1: 58,076,124	V756A	probably damaging	Het
Arap2	A	C	5: 62,730,611	I464S	probably benign	Het
Atp8a2	A	C	14: 60,026,208	M359R	probably damaging	Het
Aunip	T	C	4: 134,523,307	S188P	possibly damaging	Het
Cdt1	A	G	8: 122,571,989	E455G	probably benign	Het
Cyp2r1	G	T	7: 114,550,355	H475N	probably benign	Het
Dnah7a	G	T	1: 53,503,890	H2374N	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Dst	G	A	1: 34,274,180	A4343T	probably benign	Het
Efcab3	A	G	11: 105,111,851	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,751,790	L409P	probably damaging	Het
Eno1	G	T	4: 150,241,069	S37I	probably damaging	Het
Ermp1	A	T	19: 29,623,796	L517Q	probably damaging	Het
Farp1	T	G	14: 121,233,820	I196S	probably damaging	Het
Fbxo21	A	G	5: 117,990,854	T310A	possibly damaging	Het
Fbxo31	C	T	8: 121,560,388	V149M	probably damaging	Het
Ggcx	C	A	6: 72,429,528	T658N	possibly damaging	Het
Gm884	A	T	11: 103,543,289	M3018K	unknown	Het
Gpc5	A	C	14: 115,399,225	H440P	probably damaging	Het
H13	C	T	2: 152,695,526	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,155,469	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,730,180	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251	A263S	probably benign	Het
Il1a	C	A	2: 129,302,944	V185F	probably damaging	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Kdm4d	T	A	9: 14,463,941	K207M	probably damaging	Het
Lrrc4b	T	C	7: 44,461,109	L135P	probably damaging	Het
Lrrk1	A	G	7: 66,262,623	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,042,206	A18D	probably damaging	Het
Mtmr4	C	T	11: 87,611,930	R937*	probably null	Het
Muc16	T	A	9: 18,658,737	T829S	unknown	Het
Mum1	G	A	10: 80,240,397	G474S	probably damaging	Het
Myof	A	C	19: 37,932,719	I1365S	probably damaging	Het
Npc2	C	T	12: 84,760,838	R82Q	probably benign	Het
Olfr1123	T	A	2: 87,418,737	S228T	probably damaging	Het
Olfr117	G	A	17: 37,659,740	L198F	probably damaging	Het
Olfr1295	T	C	2: 111,565,438	D2G	probably benign	Het
Olfr418	T	A	1: 173,270,480	F102I	possibly damaging	Het
Olfr918	A	T	9: 38,673,168	I92N	possibly damaging	Het
Olfr926	T	A	9: 38,877,730	S185T	probably damaging	Het
Olfr934	A	T	9: 38,982,873	M57K	probably damaging	Het
Pdzph1	T	C	17: 58,975,143	N48S	probably benign	Het
Plce1	A	T	19: 38,524,818	H187L	probably benign	Het
Pramel6	G	T	2: 87,508,464	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,797,574		probably null	Het
Rabgap1l	A	G	1: 160,702,442	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,722,670	S625P	probably damaging	Het
Rhot1	A	T	11: 80,251,053	K461I	probably benign	Het
Ryr1	G	T	7: 29,110,883	H316N	probably benign	Het
Shprh	T	C	10: 11,213,461	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,652,112	D923E	possibly damaging	Het
Spata6	A	G	4: 111,828,320	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,139,117	I715N	probably damaging	Het
Stab1	A	T	14: 31,158,953	D627E	possibly damaging	Het
Stard9	T	A	2: 120,664,939	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872	T187A	probably damaging	Het
Tmem63a	G	T	1: 180,960,483	K267N	probably benign	Het
Topaz1	C	T	9: 122,775,643	A1104V	probably benign	Het
Trmt11	A	G	10: 30,566,494	I231T	possibly damaging	Het
Utp15	G	A	13: 98,250,863	T401I	probably benign	Het
Vmn2r13	T	C	5: 109,175,060	K121R	probably benign	Het
Xab2	C	T	8: 3,613,830	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,168,860	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,217,600	S357T	probably damaging	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
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
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'- AGGTCTCTGAAGGCTGTAACAG -3'
(R):5'- AGCAGTTTTGTCATTAGCCATTCC -3'

Sequencing Primer
(F):5'- AGAAGGCTGTAGACGATCTCCTC -3'
(R):5'- CTCAGTGATTTCAACCCTTCAAGATG -3'

Posted On

2020-06-30