Mutagenetix > Incidental Mutations

Incidental Mutation 'R2263:Prim1'

243928

Institutional Source

Beutler Lab

Gene Symbol

Prim1

Ensembl Gene

ENSMUSG00000025395

Gene Name

DNA primase, p49 subunit

Synonyms

MMRRC Submission

040263-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128015168-128030037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128015263 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 5 (D5E)

Ref Sequence

ENSEMBL: ENSMUSP00000136556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026461] [ENSMUST00000178041]

Predicted Effect

probably benign
Transcript: ENSMUST00000026461
AA Change: D5E

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026461
Gene: ENSMUSG00000025395
AA Change: D5E

Domain	Start	End	E-Value	Type
Pfam:DNA_primase_S	108	336	9.7e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135580

Predicted Effect

probably benign
Transcript: ENSMUST00000178041
AA Change: D5E

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136556
Gene: ENSMUSG00000025395
AA Change: D5E

Domain	Start	End	E-Value	Type
Pfam:DNA_primase_S	108	336	3.3e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219845

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	T	C	7: 29,532,562		noncoding transcript	Het
9130011E15Rik	A	G	19: 45,932,349		probably null	Het
Abca13	T	C	11: 9,274,702	S472P	probably benign	Het
Arsi	T	C	18: 60,916,665	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,726,533	R778Q	probably benign	Het
Bdp1	T	A	13: 100,066,037	D693V	probably damaging	Het
Car12	C	A	9: 66,747,631	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col4a1	A	G	8: 11,312,586		probably benign	Het
Cryl1	G	T	14: 57,286,408	Y232*	probably null	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,673,835	N798S	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Ehbp1	A	T	11: 22,095,462	N737K	probably benign	Het
Eif2b4	T	C	5: 31,192,574		probably benign	Het
Fat4	T	C	3: 38,888,989	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,095,176		probably benign	Het
Fbxl3	G	T	14: 103,083,212	Y314*	probably null	Het
Fgf12	T	A	16: 28,189,611	K84*	probably null	Het
Flt3	G	A	5: 147,348,063	P748L	probably benign	Het
Folh1	C	T	7: 86,719,765	S685N	probably benign	Het
Gm13119	A	G	4: 144,363,541	I384V	probably benign	Het
Gpr65	A	T	12: 98,275,235	N49I	probably damaging	Het
Hdac7	A	G	15: 97,810,851		probably null	Het
Heatr5a	A	T	12: 51,916,150	V989E	probably damaging	Het
Ikbkap	A	G	4: 56,755,298		probably null	Het
Kif12	A	G	4: 63,169,521	S242P	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mia3	A	G	1: 183,334,793	Y295H	probably benign	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Nmur2	A	T	11: 56,029,561	V286E	probably damaging	Het
Olfr1378	G	A	11: 50,969,869	V284I	possibly damaging	Het
Olfr20	T	A	11: 73,354,305	L184Q	possibly damaging	Het
Olfr574	T	C	7: 102,949,257	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Prex1	A	T	2: 166,589,068		probably benign	Het
Rubcnl	A	T	14: 75,040,820	N348I	possibly damaging	Het
Shisa9	G	T	16: 11,984,767	A63S	possibly damaging	Het
Shpk	G	A	11: 73,206,493		probably benign	Het
Slx4ip	T	C	2: 137,044,015	I85T	probably damaging	Het
Sptbn4	T	A	7: 27,434,357	D77V	probably damaging	Het
Strn3	A	T	12: 51,643,223		probably null	Het
Synrg	T	C	11: 83,977,152	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,476,511	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,271,888	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,241,682	A374V	probably damaging	Het
Ubqln3	A	T	7: 104,141,635	L416*	probably null	Het
Uqcrfs1	G	A	13: 30,541,107	S150L	probably benign	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,181	V1477E	probably benign	Het
Xpo1	T	A	11: 23,284,634		probably null	Het
Xpo5	A	G	17: 46,230,343	I769V	probably benign	Het
Zc3h14	A	T	12: 98,758,514	H252L	probably benign	Het
Zfp410	G	T	12: 84,323,020		probably null	Het
Zfp521	T	C	18: 13,846,240	E372G	possibly damaging	Het

Other mutations in Prim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Prim1	APN	10	128029243	missense	probably benign
IGL01896:Prim1	APN	10	128022889	missense	probably damaging	1.00
IGL02505:Prim1	APN	10	128029783	makesense	probably null
PIT4403001:Prim1	UTSW	10	128022876	missense	probably benign	0.01
R0563:Prim1	UTSW	10	128026554	missense	probably damaging	1.00
R1732:Prim1	UTSW	10	128015324	missense	probably damaging	1.00
R1976:Prim1	UTSW	10	128023799	missense	probably benign
R4774:Prim1	UTSW	10	128027018	intron	probably benign
R4976:Prim1	UTSW	10	128015262	missense	probably damaging	0.97
R5908:Prim1	UTSW	10	128018024	missense	probably damaging	1.00
R6356:Prim1	UTSW	10	128023835	missense	probably damaging	0.97
R6598:Prim1	UTSW	10	128020180	missense	possibly damaging	0.83
R6794:Prim1	UTSW	10	128018149	missense	probably damaging	0.97
R7179:Prim1	UTSW	10	128015976	missense	probably damaging	1.00
R7325:Prim1	UTSW	10	128022919	missense	probably null	0.13
R7432:Prim1	UTSW	10	128016016	missense	probably damaging	1.00
R7542:Prim1	UTSW	10	128018034	missense	probably damaging	1.00
R7659:Prim1	UTSW	10	128026589	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGATAGGTTTTCAGAGCCCG -3'
(R):5'- AAGAAGGTGCCTCTCTTCTTC -3'

Sequencing Primer
(F):5'- TTTTCAGAGCCCGGAAGATGC -3'
(R):5'- GAAGGTGCCTCTCTTCTTCCTAGG -3'

Posted On

2014-10-16