Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00743:Prdm6'

13153

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

Is this an essential gene?

Probably essential (E-score: 0.797) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

53464546-53575907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 53540228 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 153 (D153E)

Ref Sequence

ENSEMBL: ENSMUSP00000111057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091900] [ENSMUST00000115399] [ENSMUST00000154557]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091900
AA Change: D354E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089513
Gene: ENSMUSG00000069378
AA Change: D354E

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

possibly damaging
Transcript: ENSMUST00000115399
AA Change: D153E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111057
Gene: ENSMUSG00000069378
AA Change: D153E

Domain	Start	End	E-Value	Type
low complexity region	28	35	N/A	INTRINSIC
SET	48	171	1.98e-3	SMART
ZnF_C2H2	273	293	1.24e2	SMART
ZnF_C2H2	301	323	1.58e-3	SMART
ZnF_C2H2	329	351	1.47e-3	SMART
ZnF_C2H2	357	377	1.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154557
AA Change: D193E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000114644
Gene: ENSMUSG00000069378
AA Change: D193E

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,619,686	E659G	probably benign	Het
Adgrg6	A	C	10: 14,535,959		probably benign	Het
Als2cl	A	G	9: 110,889,159	K323E	possibly damaging	Het
Atm	A	C	9: 53,513,116	S628R	probably benign	Het
Baz2a	T	C	10: 128,114,526	V443A	probably benign	Het
Bclaf3	T	A	X: 159,558,361	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,145,444		probably benign	Het
Cdh20	A	G	1: 104,947,428	T312A	probably benign	Het
Chrnd	G	A	1: 87,192,927	W91*	probably null	Het
Cntln	T	C	4: 84,979,415	F413S	probably benign	Het
Ctsq	A	T	13: 61,036,184	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,617,535	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,162,780	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hps6	A	T	19: 46,003,660	D12V	probably damaging	Het
Hpse	T	C	5: 100,698,999	D188G	probably benign	Het
Id2	C	A	12: 25,095,356	E123*	probably null	Het
Ints10	C	T	8: 68,819,333	P562L	probably damaging	Het
Kctd10	G	A	5: 114,367,349	R195C	probably damaging	Het
Kel	A	C	6: 41,688,575	L537R	probably damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Lrrtm3	A	T	10: 64,089,209	S60T	probably damaging	Het
Myof	C	A	19: 37,960,934	R608L	probably benign	Het
Naa35	A	T	13: 59,630,671	I669F	probably benign	Het
Olfr968	A	G	9: 39,772,111	S230P	possibly damaging	Het
Olfr971	A	T	9: 39,839,706	I91F	probably benign	Het
Pclo	G	T	5: 14,678,021		probably benign	Het
Pik3c3	C	T	18: 30,274,364	S55F	probably damaging	Het
Rnf183	T	C	4: 62,428,373	T63A	probably benign	Het
Samd4b	A	C	7: 28,401,877	I108S	probably damaging	Het
Slc9a7	T	C	X: 20,106,021	D708G	possibly damaging	Het
Stim2	A	G	5: 54,053,493	D90G	probably benign	Het
Tmem52b	A	G	6: 129,516,715	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,734,281	R98G	probably benign	Het
Uxs1	C	T	1: 43,757,013	V310I	probably benign	Het
Vcan	A	C	13: 89,725,306	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,326,242	F792S	probably damaging	Het
Zfp455	T	C	13: 67,207,898	I345T	probably benign	Het
Zfp938	A	T	10: 82,226,483	M101K	probably benign	Het
Zkscan2	A	G	7: 123,479,972	S921P	probably 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
IGL02183:Prdm6	APN	18	53464677	unclassified	probably benign
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

Posted On

2012-12-06