Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00757:Prdm10'

13150

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 #

IGL00757

Quality Score

Status

Chromosome

Chromosomal Location

31191834-31293019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31229842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 86 (V86A)

Ref Sequence

ENSEMBL: ENSMUSP00000074104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074510] [ENSMUST00000117389] [ENSMUST00000215499] [ENSMUST00000215847]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074510
AA Change: V86A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: V86A

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: ENSMUST00000117389
AA Change: V90A

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000112588
Gene: ENSMUSG00000042496
AA Change: V90A

Domain	Start	End	E-Value	Type
coiled coil region	119	150	N/A	INTRINSIC
PDB:3IHX\|D	182	317	2e-97	PDB
Blast:SET	214	317	2e-25	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136144

Predicted Effect

probably benign
Transcript: ENSMUST00000215499
AA Change: V90A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000215847
AA Change: V90A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	C	9: 54,530,003 (GRCm39)	I231R	possibly damaging	Het
Ahctf1	G	A	1: 179,596,696 (GRCm39)	P94S	probably damaging	Het
Cldn34b3	T	C	X: 75,310,978 (GRCm39)	I182T	possibly damaging	Het
Cps1	T	A	1: 67,191,539 (GRCm39)		probably benign	Het
Cwf19l2	G	T	9: 3,460,054 (GRCm39)	A781S	probably damaging	Het
Cyp4v3	T	C	8: 45,773,652 (GRCm39)	I172M	probably damaging	Het
Fcgbpl1	T	G	7: 27,853,870 (GRCm39)	C1611W	probably damaging	Het
Gmnc	T	G	16: 26,782,689 (GRCm39)	D22A	probably damaging	Het
Gpr89	T	A	3: 96,778,850 (GRCm39)	T408S	probably benign	Het
Grk2	A	G	19: 4,339,339 (GRCm39)		probably null	Het
Kctd3	A	G	1: 188,704,393 (GRCm39)	S793P	probably damaging	Het
Lhx1	A	G	11: 84,410,478 (GRCm39)	F373S	probably damaging	Het
Mgl2	A	T	11: 70,025,976 (GRCm39)	I71F	probably damaging	Het
Nbeal1	T	A	1: 60,234,302 (GRCm39)	I91N	possibly damaging	Het
Otog	T	A	7: 45,939,552 (GRCm39)	D2110E	probably damaging	Het
Pde9a	A	G	17: 31,662,146 (GRCm39)	E90G	probably benign	Het
Plaat5	G	T	19: 7,591,924 (GRCm39)	E113D	possibly damaging	Het
R3hdm1	T	G	1: 128,164,176 (GRCm39)	I1030R	probably damaging	Het
Ryr2	T	A	13: 11,633,490 (GRCm39)		probably null	Het
Serpina1f	A	G	12: 103,659,721 (GRCm39)	I187T	probably damaging	Het
Slc22a16	C	T	10: 40,457,323 (GRCm39)	T188M	probably damaging	Het
Spg11	T	C	2: 121,901,440 (GRCm39)	H1500R	probably benign	Het
Sptlc2	C	T	12: 87,415,842 (GRCm39)	E62K	probably damaging	Het
Tgfbr1	T	A	4: 47,405,581 (GRCm39)	S326T	probably damaging	Het
Tgif1	A	G	17: 71,153,235 (GRCm39)	Y39H	probably damaging	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
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
IGL02053:Prdm10	APN	9	31,272,144 (GRCm39)	missense	probably benign	0.00
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

2012-12-06