Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Prdm6'

284337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prdm6

Ensembl Gene

ENSMUSG00000069378

Gene Name

PR domain containing 6

Synonyms

LOC225518, PRISM

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

53464546-53575907 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 53464677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091900] [ENSMUST00000154557]

AlphaFold

Q3UZD5

Predicted Effect

unknown
Transcript: ENSMUST00000091900
AA Change: L37P

SMART Domains

Protein: ENSMUSP00000089513
Gene: ENSMUSG00000069378
AA Change: L37P

Domain	Start	End	E-Value	Type
low complexity region	26	73	N/A	INTRINSIC
low complexity region	77	113	N/A	INTRINSIC
low complexity region	118	135	N/A	INTRINSIC
low complexity region	141	166	N/A	INTRINSIC
low complexity region	229	236	N/A	INTRINSIC
SET	249	372	1.98e-3	SMART
ZnF_C2H2	474	494	1.24e2	SMART
ZnF_C2H2	502	524	1.58e-3	SMART
ZnF_C2H2	530	552	1.47e-3	SMART
ZnF_C2H2	558	578	1.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154557

SMART Domains

Protein: ENSMUSP00000114644
Gene: ENSMUSG00000069378

Domain	Start	End	E-Value	Type
low complexity region	68	75	N/A	INTRINSIC
SET	88	211	1.98e-3	SMART
ZnF_C2H2	313	333	1.24e2	SMART
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.47e-3	SMART
ZnF_C2H2	397	417	1.2e1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit cardiovascular development defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myh7	T	A	14: 54,974,731	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	possibly damaging	Het

Other mutations in Prdm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Prdm6	APN	18	53540285	missense	probably benign	0.08
IGL00743:Prdm6	APN	18	53540228	missense	possibly damaging	0.84
R1720:Prdm6	UTSW	18	53540200	missense	probably benign	0.29
R1879:Prdm6	UTSW	18	53568217	missense	probably damaging	1.00
R1950:Prdm6	UTSW	18	53536724	missense	possibly damaging	0.90
R1962:Prdm6	UTSW	18	53568161	missense	probably damaging	1.00
R2022:Prdm6	UTSW	18	53464959	unclassified	probably benign
R3973:Prdm6	UTSW	18	53540206	missense	possibly damaging	0.94
R3974:Prdm6	UTSW	18	53540206	missense	possibly damaging	0.94
R3975:Prdm6	UTSW	18	53540206	missense	possibly damaging	0.94
R3976:Prdm6	UTSW	18	53540206	missense	possibly damaging	0.94
R4012:Prdm6	UTSW	18	53540318	missense	possibly damaging	0.70
R5144:Prdm6	UTSW	18	53465038	unclassified	probably benign
R5640:Prdm6	UTSW	18	53536741	critical splice donor site	probably null
R6113:Prdm6	UTSW	18	53473601	missense	probably damaging	1.00
R6701:Prdm6	UTSW	18	53536679	missense	possibly damaging	0.93
R6747:Prdm6	UTSW	18	53465046	unclassified	probably benign
R6784:Prdm6	UTSW	18	53536626	missense	probably benign	0.04
R7363:Prdm6	UTSW	18	53465127	missense	possibly damaging	0.75
R8365:Prdm6	UTSW	18	53552065	missense	probably benign	0.22
R8469:Prdm6	UTSW	18	53464686	unclassified	probably benign
R8827:Prdm6	UTSW	18	53568195	missense	probably damaging	0.99
R8977:Prdm6	UTSW	18	53568301	missense	probably damaging	0.99
R9132:Prdm6	UTSW	18	53464947	missense	unknown
R9159:Prdm6	UTSW	18	53464947	missense	unknown

Posted On

2015-04-16