Mutagenetix > Incidental Mutation

Incidental Mutation 'R6701:Prdm6'

528781

Institutional Source

Beutler Lab

Gene Symbol

Prdm6

Ensembl Gene

ENSMUSG00000069378

Gene Name

PR domain containing 6

Synonyms

LOC225518, PRISM

MMRRC Submission

044819-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R6701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53597027-53708976 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53669751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 123 (M123K)

Ref Sequence

ENSEMBL: ENSMUSP00000111057 (fasta)

Gene Model

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

AlphaFold

Q3UZD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091900
AA Change: M324K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089513
Gene: ENSMUSG00000069378
AA Change: M324K

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: M123K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111057
Gene: ENSMUSG00000069378
AA Change: M123K

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: M163K

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114644
Gene: ENSMUSG00000069378
AA Change: M163K

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

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 96.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,243 (GRCm39)	K684N	probably damaging	Het
Akna	C	T	4: 63,313,517 (GRCm39)	G202D	probably benign	Het
Alpk1	T	A	3: 127,522,985 (GRCm39)	D19V	probably damaging	Het
Arid4a	A	T	12: 71,134,286 (GRCm39)	K1196I	probably damaging	Het
Asic3	A	T	5: 24,619,127 (GRCm39)	M140L	possibly damaging	Het
Bfsp2	C	T	9: 103,357,077 (GRCm39)	V117M	possibly damaging	Het
Bltp3a	T	A	17: 28,106,331 (GRCm39)	C952*	probably null	Het
Cd244a	C	A	1: 171,401,723 (GRCm39)	L150M	possibly damaging	Het
Cd3e	T	C	9: 44,912,351 (GRCm39)	Y131C	probably damaging	Het
Clptm1l	T	C	13: 73,757,025 (GRCm39)	I202T	probably benign	Het
Cnot4	G	T	6: 35,045,539 (GRCm39)	T224K	probably damaging	Het
Col24a1	A	G	3: 145,020,141 (GRCm39)	T171A	probably benign	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Dcc	T	A	18: 71,942,191 (GRCm39)	T309S	probably benign	Het
Ddx21	T	C	10: 62,426,470 (GRCm39)	Y461C	probably damaging	Het
Dnah10	G	A	5: 124,837,223 (GRCm39)	V989M	probably benign	Het
Dppa4	A	T	16: 48,111,674 (GRCm39)	K220*	probably null	Het
Dysf	G	A	6: 84,089,172 (GRCm39)	G912S	probably damaging	Het
Efhb	A	T	17: 53,706,091 (GRCm39)	N815K	probably benign	Het
Eml6	T	A	11: 29,735,748 (GRCm39)	L1139F	probably damaging	Het
Eprs1	T	G	1: 185,103,087 (GRCm39)	I78S	probably damaging	Het
Fat1	C	A	8: 45,403,718 (GRCm39)	S156R	probably damaging	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Frzb	G	A	2: 80,277,163 (GRCm39)	R8W	possibly damaging	Het
Guf1	T	A	5: 69,715,596 (GRCm39)	D47E	probably damaging	Het
Haus3	A	T	5: 34,325,078 (GRCm39)	F194I	probably damaging	Het
Hivep3	C	T	4: 119,951,737 (GRCm39)	R18W	probably damaging	Het
Hnf1b	A	G	11: 83,779,920 (GRCm39)	T392A	probably damaging	Het
Hsd17b1	C	A	11: 100,970,981 (GRCm39)	C312*	probably null	Het
Ighg2b	T	C	12: 113,270,699 (GRCm39)	T144A	unknown	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Irag2	G	T	6: 145,090,702 (GRCm39)	E61*	probably null	Het
Jhy	T	C	9: 40,828,887 (GRCm39)	R340G	probably damaging	Het
Klra3	C	G	6: 130,307,216 (GRCm39)	V144L	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Lrrc4	A	G	6: 28,830,905 (GRCm39)	F237L	possibly damaging	Het
Lyst	T	A	13: 13,856,070 (GRCm39)	C2464S	probably benign	Het
Maml1	T	C	11: 50,157,509 (GRCm39)	E222G	probably damaging	Het
Med15	C	T	16: 17,489,447 (GRCm39)		probably benign	Het
Naalad2	T	C	9: 18,296,444 (GRCm39)	I69V	probably null	Het
Neb	T	C	2: 52,181,220 (GRCm39)	K1129R	probably damaging	Het
Nsun6	A	T	2: 15,041,113 (GRCm39)	N159K	probably benign	Het
Nup153	A	T	13: 46,840,541 (GRCm39)	N1022K	probably benign	Het
Or1e29	T	C	11: 73,667,296 (GRCm39)	N286D	probably damaging	Het
Or5g9	A	G	2: 85,552,675 (GRCm39)	K309E	probably benign	Het
Or5w15	C	T	2: 87,567,753 (GRCm39)	R305K	probably benign	Het
Otof	T	A	5: 30,528,141 (GRCm39)	K1901*	probably null	Het
Pde1c	A	T	6: 56,158,685 (GRCm39)	Y136N	probably damaging	Het
Phc1	G	T	6: 122,302,733 (GRCm39)	N263K	probably damaging	Het
Plxna1	A	T	6: 89,296,430 (GRCm39)	D1871E	probably damaging	Het
Ranbp17	T	C	11: 33,425,066 (GRCm39)	D430G	probably damaging	Het
Rsl24d1	C	A	9: 73,022,279 (GRCm39)	T287K	probably damaging	Het
Scn1a	G	A	2: 66,168,304 (GRCm39)	R101W	probably damaging	Het
Scn8a	A	G	15: 100,937,977 (GRCm39)	D1741G	probably damaging	Het
Serpinb1c	T	C	13: 33,080,924 (GRCm39)	Q53R	probably benign	Het
Serpinf2	C	T	11: 75,323,269 (GRCm39)	R479H	probably damaging	Het
Sis	T	A	3: 72,856,860 (GRCm39)	D448V	probably damaging	Het
Slc27a6	T	A	18: 58,712,947 (GRCm39)	D256E	probably benign	Het
Slc30a8	A	G	15: 52,194,970 (GRCm39)	Y243C	possibly damaging	Het
Slc35f5	T	C	1: 125,490,347 (GRCm39)	V103A	probably damaging	Het
Slc44a2	T	C	9: 21,232,149 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,159,274 (GRCm39)	L327P	probably damaging	Het
Stat4	A	G	1: 52,142,133 (GRCm39)	Y660C	probably damaging	Het
Terb1	T	C	8: 105,199,388 (GRCm39)	T519A	possibly damaging	Het
Tonsl	A	T	15: 76,513,500 (GRCm39)	S1245T	probably damaging	Het
Ttn	A	T	2: 76,619,162 (GRCm39)	S16072R	probably damaging	Het
Ttn	A	T	2: 76,739,590 (GRCm39)	Y3650N	probably benign	Het
Uso1	T	C	5: 92,314,444 (GRCm39)	F117S	probably damaging	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r67	G	A	7: 84,802,023 (GRCm39)	P93S	probably damaging	Het
Xirp2	A	T	2: 67,346,569 (GRCm39)	I2937F	possibly damaging	Het
Zc2hc1c	C	A	12: 85,336,446 (GRCm39)		probably null	Het
Zfp12	T	C	5: 143,230,219 (GRCm39)	V182A	probably benign	Het
Zfp473	G	T	7: 44,382,218 (GRCm39)	A705D	possibly damaging	Het
Zfp937	G	T	2: 150,081,136 (GRCm39)	G389C	probably damaging	Het
Zfp990	A	G	4: 145,264,748 (GRCm39)	D582G	probably benign	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
R3974: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
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'- TTACCCTGGCTGAGTTTCCG -3'
(R):5'- GGCCATTTCAGAAACCCAGC -3'

Sequencing Primer
(F):5'- TTCCGTGGCCGTCAATAG -3'
(R):5'- TTTCAGAAACCCAGCAAAGTATAAC -3'

Posted On

2018-07-24