Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Prdm10'

560313

Institutional Source

Beutler Lab

Gene Symbol

Prdm10

Ensembl Gene

ENSMUSG00000042496

Gene Name

PR domain containing 10

Synonyms

LOC382066, tristanin

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31191834-31293019 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31227602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

Ref Sequence

ENSEMBL: ENSMUSP00000112588 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074510
AA Change: V65A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: V65A

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

possibly damaging
Transcript: ENSMUST00000117389
AA Change: V69A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112588
Gene: ENSMUSG00000042496
AA Change: V69A

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

probably benign
Transcript: ENSMUST00000215499
AA Change: V69A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000215847
AA Change: V69A

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Acin1	A	T	14: 54,902,356 (GRCm39)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
Atg7	A	G	6: 114,754,018 (GRCm39)	H724R	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Grin3b	A	G	10: 79,809,912 (GRCm39)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,787,240 (GRCm39)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mak	T	C	13: 41,204,916 (GRCm39)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slc6a2	T	C	8: 93,722,300 (GRCm39)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Snap91	A	T	9: 86,672,199 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTTTGCTTTATAAAGGCAGATGC -3'
(R):5'- TGGTCACTGGAGACAAAGGC -3'

Sequencing Primer
(F):5'- AGATGCTGCAGGCTTGGC -3'
(R):5'- ACATGAGACTGGGGTTCTAACTC -3'

Posted On

2019-06-26