Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Prdm10'

675868

Institutional Source

Beutler Lab

Gene Symbol

Prdm10

Ensembl Gene

ENSMUSG00000042496

Gene Name

PR domain containing 10

Synonyms

tristanin, LOC382066

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31280538-31381723 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31327397 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 195 (L195P)

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: L146P

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

SMART Domains

Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: L146P

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 damaging
Transcript: ENSMUST00000117389
AA Change: L195P

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

SMART Domains

Protein: ENSMUSP00000112588
Gene: ENSMUSG00000042496
AA Change: L195P

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 damaging
Transcript: ENSMUST00000215499
AA Change: L177P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215847
AA Change: L195P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Pknox1	T	C	17: 31,599,546	I251T	probably benign	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	Het

Other mutations in Prdm10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Prdm10	APN	9	31360812	splice site	probably benign
IGL00485:Prdm10	APN	9	31327546	missense	possibly damaging	0.87
IGL00757:Prdm10	APN	9	31318546	missense	possibly damaging	0.69
IGL00836:Prdm10	APN	9	31329869	splice site	probably benign
IGL01505:Prdm10	APN	9	31327282	missense	probably benign
IGL01594:Prdm10	APN	9	31346853	missense	probably damaging	1.00
IGL01894:Prdm10	APN	9	31316261	missense	probably damaging	1.00
IGL01927:Prdm10	APN	9	31335398	splice site	probably benign
IGL02053:Prdm10	APN	9	31360848	missense	probably benign	0.00
IGL02068:Prdm10	APN	9	31337350	missense	probably damaging	1.00
IGL02295:Prdm10	APN	9	31362368	missense	probably benign
IGL02390:Prdm10	APN	9	31353389	missense	possibly damaging	0.68
IGL02574:Prdm10	APN	9	31357293	missense	probably damaging	1.00
IGL02636:Prdm10	APN	9	31329681	missense	possibly damaging	0.68
IGL02883:Prdm10	APN	9	31327348	missense	probably damaging	0.99
IGL03057:Prdm10	APN	9	31349185	missense	probably damaging	1.00
PIT4142001:Prdm10	UTSW	9	31325767	missense	probably benign	0.00
R0089:Prdm10	UTSW	9	31316230	missense	probably damaging	1.00
R0149:Prdm10	UTSW	9	31316159	splice site	probably benign
R0306:Prdm10	UTSW	9	31316224	missense	probably damaging	1.00
R0386:Prdm10	UTSW	9	31316300	missense	probably damaging	1.00
R0390:Prdm10	UTSW	9	31349268	critical splice donor site	probably null
R1512:Prdm10	UTSW	9	31337401	missense	probably damaging	1.00
R1528:Prdm10	UTSW	9	31357286	missense	probably damaging	1.00
R2409:Prdm10	UTSW	9	31349122	missense	possibly damaging	0.81
R3745:Prdm10	UTSW	9	31340407	missense	possibly damaging	0.72
R3929:Prdm10	UTSW	9	31347136	missense	probably damaging	1.00
R4295:Prdm10	UTSW	9	31316294	missense	possibly damaging	0.94
R4629:Prdm10	UTSW	9	31337316	nonsense	probably null
R4660:Prdm10	UTSW	9	31327328	missense	probably damaging	1.00
R4758:Prdm10	UTSW	9	31362412	missense	probably benign	0.00
R4793:Prdm10	UTSW	9	31353405	missense	probably damaging	1.00
R4798:Prdm10	UTSW	9	31341273	missense	probably damaging	1.00
R4806:Prdm10	UTSW	9	31329941	makesense	probably null
R4865:Prdm10	UTSW	9	31347080	missense	probably damaging	1.00
R5068:Prdm10	UTSW	9	31359047	missense	probably damaging	0.96
R5093:Prdm10	UTSW	9	31341483	missense	probably damaging	1.00
R5162:Prdm10	UTSW	9	31340418	missense	possibly damaging	0.90
R5656:Prdm10	UTSW	9	31353417	missense	probably benign	0.08
R5855:Prdm10	UTSW	9	31337323	missense	probably damaging	1.00
R6242:Prdm10	UTSW	9	31341252	missense	possibly damaging	0.67
R6396:Prdm10	UTSW	9	31318546	missense	possibly damaging	0.69
R6970:Prdm10	UTSW	9	31329823	nonsense	probably null
R7165:Prdm10	UTSW	9	31316442	splice site	probably null
R7177:Prdm10	UTSW	9	31367707	missense	probably benign
R7201:Prdm10	UTSW	9	31316306	missense	possibly damaging	0.87
R7313:Prdm10	UTSW	9	31357160	nonsense	probably null
R7337:Prdm10	UTSW	9	31316241	missense	probably damaging	1.00
R7511:Prdm10	UTSW	9	31378481	missense	probably damaging	1.00
R7711:Prdm10	UTSW	9	31357232	missense	probably damaging	1.00
R7855:Prdm10	UTSW	9	31327474	missense	probably benign	0.04
R7965:Prdm10	UTSW	9	31347006	missense	probably damaging	1.00
R7997:Prdm10	UTSW	9	31353425	missense	probably damaging	1.00
R8168:Prdm10	UTSW	9	31346967	missense	probably benign	0.00
R8717:Prdm10	UTSW	9	31341399	missense	probably benign	0.31
R8880:Prdm10	UTSW	9	31353446	missense	probably damaging	1.00
R9022:Prdm10	UTSW	9	31357128	missense	probably benign	0.01
R9200:Prdm10	UTSW	9	31357142	missense	probably damaging	1.00
R9288:Prdm10	UTSW	9	31341378	missense	possibly damaging	0.67
R9607:Prdm10	UTSW	9	31349190	missense	probably damaging	1.00
RF004:Prdm10	UTSW	9	31359126	missense	probably damaging	1.00
X0064:Prdm10	UTSW	9	31362451	missense	probably damaging	1.00
Z1176:Prdm10	UTSW	9	31316168	missense	possibly damaging	0.95
Z1176:Prdm10	UTSW	9	31316293	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTAGCGTCTTTGTAGGAGTTAAC -3'
(R):5'- AGTGCACTGGTAGAAAGCCC -3'

Sequencing Primer
(F):5'- GGCCTGAAAACTTAGATTTGGG -3'
(R):5'- CTGGTAGAAAGCCCAAGTTACCTTG -3'

Posted On

2021-07-15