Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Rpa1'

73117

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75312315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 418 (Y418C)

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: Y439C

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

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: Y439C

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: Y418C

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

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: Y418C

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	Het

Other mutations in Rpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
vomica	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
R9789:Rpa1	UTSW	11	75313112	missense	probably damaging	0.97
RF018:Rpa1	UTSW	11	75318517	frame shift	probably null

Posted On

2013-10-07