Mutagenetix > Incidental Mutations

Incidental Mutation 'R7177:Prdm10'

558697

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 #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31280538-31381723 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31367707 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1025 (S1025P)

Ref Sequence

ENSEMBL: ENSMUSP00000074104 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000074510
AA Change: S1025P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074104
Gene: ENSMUSG00000042496
AA Change: S1025P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215847

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	A	8: 45,970,407	E89D	possibly damaging	Het
4930550C14Rik	T	C	9: 53,414,385	L74S	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,425	S312P	probably benign	Het
5730409E04Rik	A	G	4: 126,611,732	S18G	probably benign	Het
Adam29	A	G	8: 55,872,624	I265T	probably benign	Het
Aff4	C	T	11: 53,406,639	S896L	probably benign	Het
Ankrd27	T	C	7: 35,619,397	I571T	probably damaging	Het
Bdp1	C	A	13: 100,049,970	R1658I	probably damaging	Het
Carm1	C	T	9: 21,547,027	T7M	unknown	Het
Ccdc105	T	C	10: 78,752,490	D162G	probably damaging	Het
Ccdc183	A	G	2: 25,616,284	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Ceacam2	T	G	7: 25,520,916	D239A	probably benign	Het
Cmya5	T	C	13: 93,095,328	D1084G	probably benign	Het
Cog5	T	A	12: 31,760,889	I194K	probably damaging	Het
Col20a1	C	T	2: 180,994,214	Q211*	probably null	Het
Col9a1	T	A	1: 24,195,417	L13Q	unknown	Het
Cracr2a	A	T	6: 127,608,706	M156L	probably benign	Het
Cts8	C	T	13: 61,251,691	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,316,719	L11Q	probably null	Het
Dhrs13	T	A	11: 78,034,382	C160S	probably benign	Het
Enthd1	T	A	15: 80,474,214	E368D	probably damaging	Het
Fbxo18	A	G	2: 11,755,711	I676T	probably damaging	Het
Fcgrt	T	C	7: 45,101,997	R176G	probably benign	Het
Gatd1	A	G	7: 141,411,034	F67L	possibly damaging	Het
Gm4353	G	A	7: 116,084,492	P23S	probably damaging	Het
Gm6882	T	A	7: 21,427,752	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,830,780	M1K	probably null	Het
Hook2	T	A	8: 84,991,417	S58T	probably benign	Het
Iqch	T	G	9: 63,421,835	*1072C	probably null	Het
Kmt2d	G	A	15: 98,850,386	T3019I	unknown	Het
Lmx1a	T	C	1: 167,846,678	S356P	probably benign	Het
Lrig3	A	G	10: 126,006,843	M546V	probably benign	Het
Lrrc1	C	A	9: 77,472,222	E96*	probably null	Het
Lrtm2	C	A	6: 119,317,152	M339I	probably damaging	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Map7d1	A	G	4: 126,236,985	C384R	probably damaging	Het
Mcur1	T	C	13: 43,544,536	D296G	probably damaging	Het
Mettl24	A	T	10: 40,810,512	H295L	probably damaging	Het
Mpl	A	G	4: 118,448,544		probably null	Het
Mrps5	T	C	2: 127,595,697	V148A	probably benign	Het
N4bp2	T	C	5: 65,807,548	V980A	probably damaging	Het
Ncaph	A	T	2: 127,116,586	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497	N156S	probably damaging	Het
Odf3l1	T	A	9: 56,849,978	M139L	possibly damaging	Het
Olfr1307	T	A	2: 111,945,156	Q100L	probably damaging	Het
Olfr1395	T	A	11: 49,149,185	C309*	probably null	Het
Pafah1b3	T	A	7: 25,295,232	I186L	probably benign	Het
Papola	C	A	12: 105,809,531	N235K	possibly damaging	Het
Pcnx3	A	T	19: 5,687,499	M98K	probably benign	Het
Pkhd1l1	A	G	15: 44,467,404	N125S	probably damaging	Het
Pls1	T	A	9: 95,773,559	H380L	probably benign	Het
Plxna1	T	C	6: 89,323,329	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,441,620	S147A	probably benign	Het
Prkcd	T	A	14: 30,599,707	H510L	probably damaging	Het
Ptprh	T	A	7: 4,569,481	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,925,020	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755	T320A	probably damaging	Het
Rnf207	A	G	4: 152,312,177	I459T	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Ryr3	A	T	2: 112,900,843	D727E	probably damaging	Het
Sdk2	C	T	11: 113,829,969	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,443,231	S11P	probably benign	Het
Sox4	A	G	13: 28,953,017	V2A	probably damaging	Het
Srf	A	G	17: 46,555,392	F146S	probably damaging	Het
Srrm2	T	C	17: 23,816,773	V797A	unknown	Het
Stk32c	T	C	7: 139,104,302	D463G	possibly damaging	Het
Syne2	C	A	12: 75,971,880	Y3384*	probably null	Het
Tmem55b	A	C	14: 50,930,177	M104R	possibly damaging	Het
Traip	T	A	9: 107,960,985	M139K	possibly damaging	Het
Trappc2l	T	A	8: 122,614,312	F100Y	probably damaging	Het
Ush1c	T	C	7: 46,229,219	D124G	probably damaging	Het
Uty	A	G	Y: 1,099,691	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,839,923	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,294,961	R31C	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
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
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'- AATGTACCTAGCCCACATTGG -3'
(R):5'- TGCATTTAAAGTGTCTGATTCTGCTTT -3'

Sequencing Primer
(F):5'- ctctgatcgtctgagaaagg -3'
(R):5'- CAACTGTGCAAGTCCTGATG -3'

Posted On

2019-06-26