Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Prdm1'

185554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prdm1

Ensembl Gene

ENSMUSG00000038151

Gene Name

PR domain containing 1, with ZNF domain

Synonyms

Blimp1, b2b1765Clo, Blimp-1, PRDI-BF1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

44437177-44528501 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44441342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 495 (F495S)

Ref Sequence

ENSEMBL: ENSMUSP00000101129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039174] [ENSMUST00000105490] [ENSMUST00000218369]

AlphaFold

Q60636

Predicted Effect

probably damaging
Transcript: ENSMUST00000039174
AA Change: F528S

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

SMART Domains

Protein: ENSMUSP00000039248
Gene: ENSMUSG00000038151
AA Change: F528S

Domain	Start	End	E-Value	Type
SET	118	239	1.1e-19	SMART
low complexity region	359	393	N/A	INTRINSIC
low complexity region	541	556	N/A	INTRINSIC
ZnF_C2H2	606	628	6.42e-4	SMART
ZnF_C2H2	634	656	3.89e-3	SMART
ZnF_C2H2	662	684	7.26e-3	SMART
ZnF_C2H2	690	712	1.36e-2	SMART
ZnF_C2H2	718	738	1.12e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105490
AA Change: F495S

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

SMART Domains

Protein: ENSMUSP00000101129
Gene: ENSMUSG00000038151
AA Change: F495S

Domain	Start	End	E-Value	Type
SET	85	206	1.1e-19	SMART
low complexity region	326	360	N/A	INTRINSIC
low complexity region	508	523	N/A	INTRINSIC
ZnF_C2H2	573	595	6.42e-4	SMART
ZnF_C2H2	601	623	3.89e-3	SMART
ZnF_C2H2	629	651	7.26e-3	SMART
ZnF_C2H2	657	679	1.36e-2	SMART
ZnF_C2H2	685	705	1.12e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000218369
AA Change: F510S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality and impaired primordial germ cell development, while heterozygotes display a decreased numbers of primordial germ cells but normal migration. Conditional mutants display impaired plasma cell and pre-plasmamemory B cell development. [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
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Chrm4	A	G	2: 91,927,831	T195A	probably damaging	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Exosc4	C	A	15: 76,329,636	A220E	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Musk	A	G	4: 58,286,128	N6S	possibly damaging	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc15a1	T	C	14: 121,462,499	I636V	possibly damaging	Het
Slc15a1	G	T	14: 121,462,474	P644H	probably benign	Het
Slc6a21	T	A	7: 45,286,459	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,507,675	L237*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	probably damaging	Het

Other mutations in Prdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Prdm1	APN	10	44441892	missense	probably damaging	1.00
IGL01331:Prdm1	APN	10	44441974	missense	possibly damaging	0.67
IGL02669:Prdm1	APN	10	44439884	missense	probably benign	0.28
IGL02944:Prdm1	APN	10	44441811	missense	probably benign
IGL03295:Prdm1	APN	10	44439870	missense	probably damaging	0.99
PIT4576001:Prdm1	UTSW	10	44458508	start codon destroyed	probably null	0.05
R0008:Prdm1	UTSW	10	44441679	missense	probably damaging	1.00
R0166:Prdm1	UTSW	10	44440091	missense	probably damaging	1.00
R0226:Prdm1	UTSW	10	44456696	missense	probably benign	0.03
R0284:Prdm1	UTSW	10	44456626	missense	probably damaging	1.00
R0398:Prdm1	UTSW	10	44439809	missense	probably damaging	1.00
R1200:Prdm1	UTSW	10	44450130	missense	probably damaging	1.00
R1405:Prdm1	UTSW	10	44439965	missense	probably damaging	1.00
R1405:Prdm1	UTSW	10	44439965	missense	probably damaging	1.00
R1438:Prdm1	UTSW	10	44442128	missense	probably benign	0.00
R1519:Prdm1	UTSW	10	44439986	nonsense	probably null
R1886:Prdm1	UTSW	10	44439758	missense	probably damaging	0.99
R2070:Prdm1	UTSW	10	44441412	missense	possibly damaging	0.82
R2508:Prdm1	UTSW	10	44446807	missense	probably benign	0.37
R3087:Prdm1	UTSW	10	44446827	missense	probably damaging	1.00
R3150:Prdm1	UTSW	10	44458492	splice site	probably null
R4165:Prdm1	UTSW	10	44441576	missense	probably benign	0.11
R4490:Prdm1	UTSW	10	44446907	nonsense	probably null
R4647:Prdm1	UTSW	10	44439690	missense	probably damaging	0.98
R4911:Prdm1	UTSW	10	44442052	missense	possibly damaging	0.90
R4925:Prdm1	UTSW	10	44440169	missense	probably damaging	1.00
R5153:Prdm1	UTSW	10	44450225	missense	possibly damaging	0.94
R5247:Prdm1	UTSW	10	44440102	missense	probably damaging	1.00
R5792:Prdm1	UTSW	10	44450228	missense	probably damaging	1.00
R6164:Prdm1	UTSW	10	44450195	missense	probably damaging	1.00
R6247:Prdm1	UTSW	10	44446786	splice site	probably null
R7196:Prdm1	UTSW	10	44456992	missense	probably benign	0.14
R7270:Prdm1	UTSW	10	44441570	missense	probably benign	0.07
R7384:Prdm1	UTSW	10	44458507	missense	probably benign	0.01
R7822:Prdm1	UTSW	10	44458482	missense	probably benign	0.01
R8809:Prdm1	UTSW	10	44439753	missense	probably benign
R8827:Prdm1	UTSW	10	44458480	missense	probably benign	0.00
R8932:Prdm1	UTSW	10	44441339	missense	probably damaging	1.00
R8958:Prdm1	UTSW	10	44440733	missense	probably damaging	1.00
R9009:Prdm1	UTSW	10	44447001	missense	probably benign	0.02
R9020:Prdm1	UTSW	10	44440040	missense	probably damaging	1.00
R9176:Prdm1	UTSW	10	44440127	missense	probably damaging	1.00
R9378:Prdm1	UTSW	10	44440154	missense	probably damaging	1.00
R9471:Prdm1	UTSW	10	44450178	missense	probably damaging	1.00
R9535:Prdm1	UTSW	10	44441612	missense	probably damaging	1.00
R9554:Prdm1	UTSW	10	44441246	missense	probably benign	0.01
Z1088:Prdm1	UTSW	10	44441925	missense	probably damaging	1.00
Z1176:Prdm1	UTSW	10	44446833	missense	probably damaging	1.00

Posted On

2014-05-07