Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Prdm6'

312966

Institutional Source

Beutler Lab

Gene Symbol

Prdm6

Ensembl Gene

ENSMUSG00000069378

Gene Name

PR domain containing 6

Synonyms

LOC225518, PRISM

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.828) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53464546-53575907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53540206 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 186 (I186T)

Ref Sequence

ENSEMBL: ENSMUSP00000114644 (fasta)

Gene Model

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

AlphaFold

Q3UZD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091900
AA Change: I347T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089513
Gene: ENSMUSG00000069378
AA Change: I347T

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: I146T

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111057
Gene: ENSMUSG00000069378
AA Change: I146T

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

possibly damaging
Transcript: ENSMUST00000154557
AA Change: I186T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114644
Gene: ENSMUSG00000069378
AA Change: I186T

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

Meta Mutation Damage Score

0.6433

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431	S466T	probably benign	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prkd3	G	A	17: 78,959,141		probably benign	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848	S66T	probably benign	Het
Setd3	T	C	12: 108,165,158	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222	D94G	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
IGL00743:Prdm6	APN	18	53540228	missense	possibly damaging	0.84
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTACCATGCCGAGTTAGAGG -3'
(R):5'- CTGTGGTAGAATGACCCATGC -3'

Sequencing Primer
(F):5'- CCGAGTTAGAGGCTCTCTTCAATTG -3'
(R):5'- TGGTAGAATGACCCATGCATGTC -3'

Posted On

2015-04-30