Mutagenetix > Incidental Mutation

Incidental Mutation 'R8168:Prdm10'

633910

Institutional Source

Beutler Lab

Gene Symbol

Prdm10

Ensembl Gene

ENSMUSG00000042496

Gene Name

PR domain containing 10

Synonyms

LOC382066, tristanin

MMRRC Submission

067594-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31191834-31293019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31258263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 514 (A514T)

Ref Sequence

ENSEMBL: ENSMUSP00000074104 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074510
AA Change: A514T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: A514T

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (44/44)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,816,857 (GRCm39)	I652T	probably damaging	Het
Arhgef1	A	G	7: 24,624,831 (GRCm39)	T862A	probably benign	Het
Atp6v1b2	T	C	8: 69,560,983 (GRCm39)	S404P	possibly damaging	Het
Catsperz	A	G	19: 6,900,020 (GRCm39)	S162P	possibly damaging	Het
Cfap410	G	A	10: 77,818,778 (GRCm39)	A150T	probably benign	Het
Cfap54	A	T	10: 92,744,739 (GRCm39)	S2170T	unknown	Het
Copa	A	T	1: 171,927,239 (GRCm39)	H204L	probably damaging	Het
Cwc22	A	C	2: 77,757,615 (GRCm39)	V171G	probably damaging	Het
Dock5	A	T	14: 68,007,646 (GRCm39)		probably null	Het
Flrt1	G	A	19: 7,074,002 (GRCm39)	L182F	probably damaging	Het
Foxf1	T	C	8: 121,811,901 (GRCm39)	V255A	probably damaging	Het
Gnptab	G	T	10: 88,254,995 (GRCm39)	A194S	probably benign	Het
Gzf1	C	T	2: 148,526,686 (GRCm39)	R386C	probably damaging	Het
H2-Aa	T	A	17: 34,506,695 (GRCm39)	T16S	possibly damaging	Het
Hdgfl2	T	C	17: 56,389,282 (GRCm39)	F52S	probably damaging	Het
Htt	A	G	5: 35,040,300 (GRCm39)	N2154S	probably benign	Het
Ifi207	A	C	1: 173,557,504 (GRCm39)	S411R	probably benign	Het
Jcad	A	T	18: 4,675,094 (GRCm39)	D952V	probably benign	Het
Lama3	T	A	18: 12,639,999 (GRCm39)	W65R	probably null	Het
Mef2c	G	T	13: 83,804,469 (GRCm39)	L356F	probably damaging	Het
Mrgprb2	A	T	7: 48,201,767 (GRCm39)	S319R	probably benign	Het
Mtrr	C	T	13: 68,720,732 (GRCm39)	V288I	probably benign	Het
Myo18a	T	A	11: 77,711,968 (GRCm39)	I713N	probably damaging	Het
Nelfa	A	T	5: 34,079,251 (GRCm39)	N107K	possibly damaging	Het
Nim1k	A	T	13: 120,174,288 (GRCm39)	V202D	probably damaging	Het
Nlrc4	T	C	17: 74,752,206 (GRCm39)	T726A	probably benign	Het
Or4p8	T	A	2: 88,727,120 (GRCm39)	M274L	probably benign	Het
Or9m1	T	A	2: 87,733,543 (GRCm39)	H159L	probably damaging	Het
Phaf1	C	T	8: 105,975,401 (GRCm39)	P330L	probably benign	Het
Prg4	T	A	1: 150,331,601 (GRCm39)	E357D	unknown	Het
Ptp4a3	T	G	15: 73,628,695 (GRCm39)	Y152D	probably damaging	Het
Raph1	A	G	1: 60,538,779 (GRCm39)	C389R	unknown	Het
Rcc1	T	C	4: 132,063,096 (GRCm39)	E170G	probably benign	Het
Spag17	C	T	3: 99,942,300 (GRCm39)	T775M	possibly damaging	Het
Srcap	T	A	7: 127,141,695 (GRCm39)	V1825D	probably damaging	Het
Tshr	T	A	12: 91,478,739 (GRCm39)	H195Q	probably benign	Het
Vmn1r174	A	T	7: 23,454,096 (GRCm39)	D254V	probably damaging	Het
Vps13a	A	C	19: 16,726,912 (GRCm39)	I244M	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTGAACTGCAGGCGTCAC -3'
(R):5'- GACACTCACCTGGATAAAATCTGG -3'

Sequencing Primer
(F):5'- GTGTCTTTCAGAATGCAGCTC -3'
(R):5'- GGAACCGTTTCTTACAAGTTGGGC -3'

Posted On

2020-07-13