Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03169:Rpa1'

411748

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 #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

75298166-75348324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75301357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 607 (D607G)

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: D628G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000767
Gene: ENSMUSG00000000751
AA Change: D628G

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: D607G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090585
Gene: ENSMUSG00000000751
AA Change: D607G

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 83,931,995	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,503,900	Q2995L	probably damaging	Het
Capn9	T	C	8: 124,605,877	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,597,760	I197N	probably damaging	Het
Chl1	T	A	6: 103,665,967	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,914,605		probably benign	Het
Cyp2d12	T	C	15: 82,559,291	S485P	probably benign	Het
Ddx50	A	T	10: 62,621,387		probably null	Het
Dlgap4	C	A	2: 156,711,018		probably null	Het
Dpysl4	G	A	7: 139,099,910		probably null	Het
Erbin	T	C	13: 103,841,232	M606V	possibly damaging	Het
Fat4	T	G	3: 38,957,398	S2216A	probably benign	Het
Frem2	T	C	3: 53,522,292	N2779S	probably benign	Het
Fut1	T	C	7: 45,619,033	V82A	probably benign	Het
Gnb1l	C	T	16: 18,540,455	A2V	probably damaging	Het
Hdac1	C	T	4: 129,518,831	E327K	probably null	Het
Hdlbp	A	G	1: 93,416,587	V819A	possibly damaging	Het
Ift122	T	C	6: 115,905,961		probably benign	Het
Iqgap2	T	C	13: 95,731,277		probably null	Het
Kntc1	T	C	5: 123,775,821	V613A	possibly damaging	Het
Lamb1	T	C	12: 31,323,646	V1458A	probably damaging	Het
Lef1	A	G	3: 131,194,663	K265R	probably damaging	Het
Lrp2	T	C	2: 69,523,194	D574G	probably damaging	Het
Mterf2	C	T	10: 85,120,460	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703	R155Q	probably damaging	Het
Obscn	T	C	11: 59,073,296	T3304A	probably damaging	Het
Olfr1251	A	G	2: 89,667,487	I133T	possibly damaging	Het
Olfr137	G	T	17: 38,305,101	S120Y	probably damaging	Het
Os9	G	A	10: 127,098,594	T391M	probably benign	Het
Parp6	C	A	9: 59,650,017	Y131*	probably null	Het
Plxdc1	T	C	11: 97,932,320	E358G	possibly damaging	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Ptprc	A	T	1: 138,113,619	S167R	probably benign	Het
Rad54l2	T	C	9: 106,719,064	D225G	probably benign	Het
Rgs7	T	C	1: 175,270,835	I53V	possibly damaging	Het
Shisa5	T	A	9: 109,056,492	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,456,443		probably benign	Het
Taf4b	T	G	18: 14,821,535	V556G	probably damaging	Het
Tgif1	A	C	17: 70,844,841	S258R	possibly damaging	Het
Tmem106a	T	C	11: 101,590,458		probably benign	Het
Vmn1r113	A	T	7: 20,788,087	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,715,023	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,884,340	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,905,491	S241L	possibly damaging	Het
Zfyve9	T	C	4: 108,695,825	Y713C	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
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