Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02053:Prdm10'

185143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prdm10

Ensembl Gene

ENSMUSG00000042496

Gene Name

PR domain containing 10

Synonyms

LOC382066, tristanin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02053

Quality Score

Status

Chromosome

Chromosomal Location

31191834-31293019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31272144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 977 (S977P)

Ref Sequence

ENSEMBL: ENSMUSP00000149699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074510] [ENSMUST00000215499] [ENSMUST00000215847]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074510
AA Change: S928P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: S928P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	111	117	N/A	INTRINSIC
PDB:3IHX\|D	133	284	1e-104	PDB
Blast:SET	165	277	3e-32	BLAST
ZnF_C2H2	300	322	5.42e-2	SMART
Pfam:Tristanin_u2	325	455	2.4e-49	PFAM
ZnF_C2H2	471	493	7.78e-3	SMART
ZnF_C2H2	501	523	1.95e-3	SMART
ZnF_C2H2	529	551	3.83e-2	SMART
ZnF_C2H2	557	580	8.34e-3	SMART
ZnF_C2H2	585	607	3.21e-4	SMART
ZnF_C2H2	613	636	3.69e-4	SMART
ZnF_C2H2	668	691	8.22e-2	SMART
ZnF_C2H2	801	824	1.25e-1	SMART
low complexity region	904	916	N/A	INTRINSIC
low complexity region	956	964	N/A	INTRINSIC
low complexity region	988	1007	N/A	INTRINSIC
low complexity region	1110	1122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215499
AA Change: S933P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000215847
AA Change: S977P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	C	17: 43,761,058 (GRCm39)	S918P	possibly damaging	Het
AY358078	G	T	14: 52,043,009 (GRCm39)	E232D	unknown	Het
Baz1b	C	A	5: 135,271,320 (GRCm39)	P1301Q	probably benign	Het
Btn2a2	T	C	13: 23,662,990 (GRCm39)	D311G	probably damaging	Het
Cept1	A	T	3: 106,440,712 (GRCm39)	L149Q	probably damaging	Het
Clec2m	T	C	6: 129,303,725 (GRCm39)	Q80R	probably benign	Het
Col6a4	T	A	9: 105,940,294 (GRCm39)	D1212V	possibly damaging	Het
Cyp2j8	T	C	4: 96,358,891 (GRCm39)	I343V	probably damaging	Het
Dapk2	A	G	9: 66,128,027 (GRCm39)	I102V	probably benign	Het
Dntt	A	G	19: 41,034,713 (GRCm39)	T321A	probably benign	Het
Entrep2	C	T	7: 64,469,590 (GRCm39)	G53R	probably damaging	Het
Ezh1	T	C	11: 101,090,769 (GRCm39)		probably benign	Het
Fbxw5	T	C	2: 25,393,453 (GRCm39)	V18A	probably damaging	Het
Fgd5	T	A	6: 92,030,225 (GRCm39)	C1109S	probably benign	Het
Ms4a6c	A	G	19: 11,455,586 (GRCm39)	I132V	probably benign	Het
Ncoa3	T	C	2: 165,896,754 (GRCm39)	L515P	probably damaging	Het
Nfic	A	G	10: 81,256,385 (GRCm39)	V115A	probably damaging	Het
P4ha2	A	G	11: 54,008,413 (GRCm39)	T207A	probably benign	Het
Pde10a	G	T	17: 9,193,601 (GRCm39)	V732L	probably damaging	Het
Pfas	A	T	11: 68,883,779 (GRCm39)	L626Q	probably damaging	Het
Plekha6	A	G	1: 133,200,230 (GRCm39)	N270D	probably damaging	Het
Ptprm	A	G	17: 67,000,836 (GRCm39)	L1073P	probably damaging	Het
Rai14	A	C	15: 10,633,242 (GRCm39)	H49Q	probably benign	Het
Ros1	T	A	10: 52,038,816 (GRCm39)	I394F	probably damaging	Het
Sec14l1	C	T	11: 117,047,738 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,550,413 (GRCm39)	I151V	probably benign	Het
Tet2	T	A	3: 133,194,284 (GRCm39)	N50I	possibly damaging	Het
Tubal3	A	C	13: 3,983,159 (GRCm39)	D313A	probably damaging	Het
Usp45	A	G	4: 21,824,553 (GRCm39)	N483S	probably benign	Het

Other mutations in Prdm10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Prdm10	APN	9	31,272,108 (GRCm39)	splice site	probably benign
IGL00485:Prdm10	APN	9	31,238,842 (GRCm39)	missense	possibly damaging	0.87
IGL00757:Prdm10	APN	9	31,229,842 (GRCm39)	missense	possibly damaging	0.69
IGL00836:Prdm10	APN	9	31,241,165 (GRCm39)	splice site	probably benign
IGL01505:Prdm10	APN	9	31,238,578 (GRCm39)	missense	probably benign
IGL01594:Prdm10	APN	9	31,258,149 (GRCm39)	missense	probably damaging	1.00
IGL01894:Prdm10	APN	9	31,227,557 (GRCm39)	missense	probably damaging	1.00
IGL01927:Prdm10	APN	9	31,246,694 (GRCm39)	splice site	probably benign
IGL02068:Prdm10	APN	9	31,248,646 (GRCm39)	missense	probably damaging	1.00
IGL02295:Prdm10	APN	9	31,273,664 (GRCm39)	missense	probably benign
IGL02390:Prdm10	APN	9	31,264,685 (GRCm39)	missense	possibly damaging	0.68
IGL02574:Prdm10	APN	9	31,268,589 (GRCm39)	missense	probably damaging	1.00
IGL02636:Prdm10	APN	9	31,240,977 (GRCm39)	missense	possibly damaging	0.68
IGL02883:Prdm10	APN	9	31,238,644 (GRCm39)	missense	probably damaging	0.99
IGL03057:Prdm10	APN	9	31,260,481 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Prdm10	UTSW	9	31,237,063 (GRCm39)	missense	probably benign	0.00
R0089:Prdm10	UTSW	9	31,227,526 (GRCm39)	missense	probably damaging	1.00
R0149:Prdm10	UTSW	9	31,227,455 (GRCm39)	splice site	probably benign
R0306:Prdm10	UTSW	9	31,227,520 (GRCm39)	missense	probably damaging	1.00
R0386:Prdm10	UTSW	9	31,227,596 (GRCm39)	missense	probably damaging	1.00
R0390:Prdm10	UTSW	9	31,260,564 (GRCm39)	critical splice donor site	probably null
R1512:Prdm10	UTSW	9	31,248,697 (GRCm39)	missense	probably damaging	1.00
R1528:Prdm10	UTSW	9	31,268,582 (GRCm39)	missense	probably damaging	1.00
R2409:Prdm10	UTSW	9	31,260,418 (GRCm39)	missense	possibly damaging	0.81
R3745:Prdm10	UTSW	9	31,251,703 (GRCm39)	missense	possibly damaging	0.72
R3929:Prdm10	UTSW	9	31,258,432 (GRCm39)	missense	probably damaging	1.00
R4295:Prdm10	UTSW	9	31,227,590 (GRCm39)	missense	possibly damaging	0.94
R4629:Prdm10	UTSW	9	31,248,612 (GRCm39)	nonsense	probably null
R4660:Prdm10	UTSW	9	31,238,624 (GRCm39)	missense	probably damaging	1.00
R4758:Prdm10	UTSW	9	31,273,708 (GRCm39)	missense	probably benign	0.00
R4793:Prdm10	UTSW	9	31,264,701 (GRCm39)	missense	probably damaging	1.00
R4798:Prdm10	UTSW	9	31,252,569 (GRCm39)	missense	probably damaging	1.00
R4806:Prdm10	UTSW	9	31,241,237 (GRCm39)	makesense	probably null
R4865:Prdm10	UTSW	9	31,258,376 (GRCm39)	missense	probably damaging	1.00
R5068:Prdm10	UTSW	9	31,270,343 (GRCm39)	missense	probably damaging	0.96
R5093:Prdm10	UTSW	9	31,252,779 (GRCm39)	missense	probably damaging	1.00
R5162:Prdm10	UTSW	9	31,251,714 (GRCm39)	missense	possibly damaging	0.90
R5656:Prdm10	UTSW	9	31,264,713 (GRCm39)	missense	probably benign	0.08
R5855:Prdm10	UTSW	9	31,248,619 (GRCm39)	missense	probably damaging	1.00
R6242:Prdm10	UTSW	9	31,252,548 (GRCm39)	missense	possibly damaging	0.67
R6396:Prdm10	UTSW	9	31,229,842 (GRCm39)	missense	possibly damaging	0.69
R6970:Prdm10	UTSW	9	31,241,119 (GRCm39)	nonsense	probably null
R7165:Prdm10	UTSW	9	31,227,738 (GRCm39)	splice site	probably null
R7177:Prdm10	UTSW	9	31,279,003 (GRCm39)	missense	probably benign
R7201:Prdm10	UTSW	9	31,227,602 (GRCm39)	missense	possibly damaging	0.87
R7313:Prdm10	UTSW	9	31,268,456 (GRCm39)	nonsense	probably null
R7337:Prdm10	UTSW	9	31,227,537 (GRCm39)	missense	probably damaging	1.00
R7511:Prdm10	UTSW	9	31,289,777 (GRCm39)	missense	probably damaging	1.00
R7711:Prdm10	UTSW	9	31,268,528 (GRCm39)	missense	probably damaging	1.00
R7855:Prdm10	UTSW	9	31,238,770 (GRCm39)	missense	probably benign	0.04
R7965:Prdm10	UTSW	9	31,258,302 (GRCm39)	missense	probably damaging	1.00
R7997:Prdm10	UTSW	9	31,264,721 (GRCm39)	missense	probably damaging	1.00
R8168:Prdm10	UTSW	9	31,258,263 (GRCm39)	missense	probably benign	0.00
R8717:Prdm10	UTSW	9	31,252,695 (GRCm39)	missense	probably benign	0.31
R8865:Prdm10	UTSW	9	31,238,693 (GRCm39)	missense	probably damaging	1.00
R8880:Prdm10	UTSW	9	31,264,742 (GRCm39)	missense	probably damaging	1.00
R9022:Prdm10	UTSW	9	31,268,424 (GRCm39)	missense	probably benign	0.01
R9200:Prdm10	UTSW	9	31,268,438 (GRCm39)	missense	probably damaging	1.00
R9288:Prdm10	UTSW	9	31,252,674 (GRCm39)	missense	possibly damaging	0.67
R9607:Prdm10	UTSW	9	31,260,486 (GRCm39)	missense	probably damaging	1.00
RF004:Prdm10	UTSW	9	31,270,422 (GRCm39)	missense	probably damaging	1.00
X0064:Prdm10	UTSW	9	31,273,747 (GRCm39)	missense	probably damaging	1.00
Z1176:Prdm10	UTSW	9	31,227,589 (GRCm39)	nonsense	probably null
Z1176:Prdm10	UTSW	9	31,227,464 (GRCm39)	missense	possibly damaging	0.95

Posted On

2014-05-07