Mutagenetix > Incidental Mutation

Incidental Mutation 'R3974:Prdm6'

312559

Institutional Source

Beutler Lab

Gene Symbol

Prdm6

Ensembl Gene

ENSMUSG00000069378

Gene Name

PR domain containing 6

Synonyms

LOC225518, PRISM

Accession Numbers

Essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R3974 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53597027-53708976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53673278 bp (GRCm39)

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: 98.5%
10x: 96.9%
20x: 93.8%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,488 (GRCm39)	I486T	probably damaging	Het
Abca8a	A	T	11: 109,974,328 (GRCm39)	M202K	probably damaging	Het
Abhd4	T	A	14: 54,500,417 (GRCm39)	I117N	probably damaging	Het
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenph	A	G	13: 100,900,075 (GRCm39)	V151A	probably damaging	Het
Cfap54	A	G	10: 92,675,333 (GRCm39)	S2863P	possibly damaging	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Cnbd1	G	A	4: 18,887,693 (GRCm39)	R274C	probably benign	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Dll4	A	G	2: 119,164,573 (GRCm39)	D664G	probably damaging	Het
Ehbp1	C	T	11: 22,087,867 (GRCm39)	A406T	probably benign	Het
Far2	T	A	6: 148,052,252 (GRCm39)	I177N	probably damaging	Het
Flt4	T	G	11: 49,527,567 (GRCm39)	V910G	probably damaging	Het
Fmod	A	G	1: 133,968,496 (GRCm39)	R179G	probably benign	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Grik2	A	T	10: 49,298,750 (GRCm39)	Y37N	probably damaging	Het
Grn	T	C	11: 102,327,165 (GRCm39)	V559A	probably damaging	Het
Lrrc37	A	T	11: 103,509,927 (GRCm39)		probably benign	Het
Muc2	T	A	7: 141,300,541 (GRCm39)		probably benign	Het
Myo5b	T	C	18: 74,767,552 (GRCm39)	Y287H	probably damaging	Het
Nbeal2	T	C	9: 110,462,914 (GRCm39)	T1350A	probably damaging	Het
Nfkbiz	T	C	16: 55,638,799 (GRCm39)	I220M	probably benign	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Omg	T	A	11: 79,393,224 (GRCm39)	E211D	probably benign	Het
Or52ab7	T	G	7: 102,978,285 (GRCm39)	D197E	probably damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,901 (GRCm39)	T404A	possibly damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Plod2	G	T	9: 92,480,672 (GRCm39)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,089,341 (GRCm39)	V660A	probably benign	Het
Ptprq	T	G	10: 107,547,923 (GRCm39)	K158N	possibly damaging	Het
Rimbp2	A	G	5: 128,874,862 (GRCm39)	V243A	probably damaging	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rtn4	C	T	11: 29,657,505 (GRCm39)	T553I	probably damaging	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Serpina1f	C	A	12: 103,659,830 (GRCm39)	G151*	probably null	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slco1a1	A	T	6: 141,854,819 (GRCm39)	S611T	probably benign	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Syne1	T	C	10: 4,993,630 (GRCm39)	D8370G	probably benign	Het
Tigd4	G	A	3: 84,502,585 (GRCm39)	A501T	possibly damaging	Het
Tjp1	A	T	7: 64,947,387 (GRCm39)	C1724*	probably null	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Tyw5	A	T	1: 57,430,687 (GRCm39)	D165E	probably damaging	Het
U2af2	T	A	7: 5,072,438 (GRCm39)		probably null	Het
Ube3b	T	A	5: 114,550,491 (GRCm39)	D839E	probably benign	Het
Ush2a	A	G	1: 188,113,698 (GRCm39)	D639G	probably benign	Het
Veph1	A	T	3: 66,065,648 (GRCm39)	M473K	probably benign	Het
Vmn2r72	A	T	7: 85,399,017 (GRCm39)	N445K	probably damaging	Het
Vps37d	T	C	5: 135,105,393 (GRCm39)	M77V	probably null	Het

Other mutations in Prdm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Prdm6	APN	18	53,673,357 (GRCm39)	missense	probably benign	0.08
IGL00743:Prdm6	APN	18	53,673,300 (GRCm39)	missense	possibly damaging	0.84
IGL02183:Prdm6	APN	18	53,597,749 (GRCm39)	unclassified	probably benign
R1720:Prdm6	UTSW	18	53,673,272 (GRCm39)	missense	probably benign	0.29
R1879:Prdm6	UTSW	18	53,701,289 (GRCm39)	missense	probably damaging	1.00
R1950:Prdm6	UTSW	18	53,669,796 (GRCm39)	missense	possibly damaging	0.90
R1962:Prdm6	UTSW	18	53,701,233 (GRCm39)	missense	probably damaging	1.00
R2022:Prdm6	UTSW	18	53,598,031 (GRCm39)	unclassified	probably benign
R3973:Prdm6	UTSW	18	53,673,278 (GRCm39)	missense	possibly damaging	0.94
R3975:Prdm6	UTSW	18	53,673,278 (GRCm39)	missense	possibly damaging	0.94
R3976:Prdm6	UTSW	18	53,673,278 (GRCm39)	missense	possibly damaging	0.94
R4012:Prdm6	UTSW	18	53,673,390 (GRCm39)	missense	possibly damaging	0.70
R5144:Prdm6	UTSW	18	53,598,110 (GRCm39)	unclassified	probably benign
R5640:Prdm6	UTSW	18	53,669,813 (GRCm39)	critical splice donor site	probably null
R6113:Prdm6	UTSW	18	53,606,673 (GRCm39)	missense	probably damaging	1.00
R6701:Prdm6	UTSW	18	53,669,751 (GRCm39)	missense	possibly damaging	0.93
R6747:Prdm6	UTSW	18	53,598,118 (GRCm39)	unclassified	probably benign
R6784:Prdm6	UTSW	18	53,669,698 (GRCm39)	missense	probably benign	0.04
R7363:Prdm6	UTSW	18	53,598,199 (GRCm39)	missense	possibly damaging	0.75
R8365:Prdm6	UTSW	18	53,685,137 (GRCm39)	missense	probably benign	0.22
R8469:Prdm6	UTSW	18	53,597,758 (GRCm39)	unclassified	probably benign
R8827:Prdm6	UTSW	18	53,701,267 (GRCm39)	missense	probably damaging	0.99
R8977:Prdm6	UTSW	18	53,701,373 (GRCm39)	missense	probably damaging	0.99
R9132:Prdm6	UTSW	18	53,598,019 (GRCm39)	missense	unknown
R9159:Prdm6	UTSW	18	53,598,019 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGACATTGTTTACCATGCCGAG -3'
(R):5'- GACCCATGCATGTCTATCATTAGC -3'

Sequencing Primer
(F):5'- CATTGTTTACCATGCCGAGTTAGAG -3'
(R):5'- CCATGCATGTCTATCATTAGCAAATC -3'

Posted On

2015-04-30