Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02976:Rpa1'

406376

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpa1

Ensembl Gene

ENSMUSG00000000751

Gene Name

replication protein A1

Synonyms

Rpa, 5031405K23Rik, RP-A, RF-A, 70kDa

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75312802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 358 (D358V)

Ref Sequence

ENSEMBL: ENSMUSP00000000767 (fasta)

Gene Model

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

AlphaFold

Q8VEE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000000767
AA Change: D358V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: D358V

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: D337V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: D337V

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

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	T	19: 58,789,120	V78E	probably benign	Het
9630041A04Rik	A	G	9: 101,939,646	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,131,597	S288T	probably benign	Het
Ano7	T	A	1: 93,402,673	D806E	possibly damaging	Het
Arl6	A	G	16: 59,623,896	L79P	probably damaging	Het
Card6	A	T	15: 5,099,828	C695*	probably null	Het
Carmil1	T	C	13: 24,092,551	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,882,921	V52A	probably benign	Het
Chd4	G	A	6: 125,121,368	R369H	probably damaging	Het
Clasp2	C	T	9: 113,906,136	P1031L	probably damaging	Het
Cldn34d	C	T	X: 76,583,084	A121T	probably benign	Het
Clmp	A	C	9: 40,781,224	Y263S	possibly damaging	Het
Cntn5	A	G	9: 10,419,099		probably benign	Het
Folh1	A	T	7: 86,762,918	M215K	probably benign	Het
Fut1	C	T	7: 45,619,320	R233C	probably damaging	Het
Gcdh	A	C	8: 84,888,578	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,358,814	S16R	possibly damaging	Het
Jph3	T	A	8: 121,753,084	L167Q	probably damaging	Het
Jup	A	G	11: 100,378,366	V407A	probably benign	Het
Kif17	C	T	4: 138,269,063	A117V	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Magi2	C	T	5: 20,534,475	P349S	probably damaging	Het
Mlycd	T	C	8: 119,401,485	M177T	possibly damaging	Het
Mocos	A	G	18: 24,666,569	K287E	possibly damaging	Het
Morc2b	T	A	17: 33,137,523	H425L	possibly damaging	Het
Mrpl9	T	A	3: 94,447,777		probably benign	Het
Myo3a	G	A	2: 22,542,452	W825*	probably null	Het
Npas2	T	C	1: 39,287,484	S17P	probably damaging	Het
Nrk	A	G	X: 138,992,068	I1174V	probably benign	Het
Olfr1423	A	T	19: 12,035,973	Y256*	probably null	Het
Olfr392	A	G	11: 73,814,317	I255T	probably damaging	Het
Olfr730	G	A	14: 50,186,432	Q262*	probably null	Het
Parpbp	A	G	10: 88,111,594		probably null	Het
Pcdh10	T	C	3: 45,380,013	V254A	possibly damaging	Het
Plod1	C	T	4: 147,913,321	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,971,784	V149A	probably benign	Het
Rassf4	T	C	6: 116,638,248	E320G	probably damaging	Het
Rgl2	T	A	17: 33,933,962	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,206,712		probably null	Het
Sdk2	T	C	11: 113,851,842	N747S	probably damaging	Het
Slc17a4	A	C	13: 23,905,424	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,170,693	V310M	possibly damaging	Het
Spag9	G	A	11: 94,083,953	R463H	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Syt10	A	G	15: 89,814,479	S221P	probably benign	Het
Tlk1	T	A	2: 70,721,591	K579*	probably null	Het
Tubgcp3	T	C	8: 12,632,300	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,249,995	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,468,998	M14T	probably benign	Het
Zfp59	A	G	7: 27,853,396	D91G	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
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
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

Posted On

2016-08-02