Mutagenetix > Incidental Mutation

Incidental Mutation 'R2432:Prdm14'

250424

Institutional Source

Beutler Lab

Gene Symbol

Prdm14

Ensembl Gene

ENSMUSG00000042414

Gene Name

PR domain containing 14

Synonyms

MMRRC Submission

040393-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13183681-13197387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13195857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 68 (D68G)

Ref Sequence

ENSEMBL: ENSMUSP00000044245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047577]

AlphaFold

E9Q3T6

Predicted Effect

probably benign
Transcript: ENSMUST00000047577
AA Change: D68G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044245
Gene: ENSMUSG00000042414
AA Change: D68G

Domain	Start	End	E-Value	Type
low complexity region	120	139	N/A	INTRINSIC
SET	244	362	2.8e-11	SMART
low complexity region	373	389	N/A	INTRINSIC
ZnF_C2H2	390	410	1.4e-1	SMART
ZnF_C2H2	422	445	5.3e-5	SMART
ZnF_C2H2	451	473	3.2e-7	SMART
ZnF_C2H2	479	501	1.4e-4	SMART
ZnF_C2H2	507	530	8.1e-5	SMART
ZnF_C2H2	536	558	4.6e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased primordial germ cell numbers, absent germ cells, and sterility in both males and females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,401,333 (GRCm39)		probably benign	Het
Adamts6	A	T	13: 104,563,485 (GRCm39)	Y659F	probably benign	Het
Adamts9	C	A	6: 92,834,881 (GRCm39)	G750W	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Aspscr1	A	G	11: 120,593,392 (GRCm39)		probably benign	Het
Calr3	A	G	8: 73,192,270 (GRCm39)		probably benign	Het
Cpt2	A	T	4: 107,761,723 (GRCm39)	Y126*	probably null	Het
Cyp2d34	A	G	15: 82,503,212 (GRCm39)	L94P	probably damaging	Het
Def6	A	T	17: 28,447,043 (GRCm39)	D558V	probably benign	Het
Dnase1l2	G	A	17: 24,661,699 (GRCm39)	T20I	possibly damaging	Het
Eif5b	A	G	1: 38,058,423 (GRCm39)	K242E	unknown	Het
Golim4	T	C	3: 75,799,249 (GRCm39)	N478S	possibly damaging	Het
Helb	A	T	10: 119,941,442 (GRCm39)	D415E	probably benign	Het
Ifna12	T	A	4: 88,521,590 (GRCm39)		probably benign	Het
Jhy	T	A	9: 40,872,182 (GRCm39)	H109L	probably benign	Het
Krt87	A	T	15: 101,386,037 (GRCm39)	Y241*	probably null	Het
Macf1	G	T	4: 123,577,789 (GRCm39)	A65E	probably damaging	Het
Mug2	C	A	6: 122,061,335 (GRCm39)	N1418K	possibly damaging	Het
Myo1f	A	G	17: 33,794,823 (GRCm39)	D21G	probably damaging	Het
Myo5a	T	A	9: 75,120,155 (GRCm39)	I1651N	possibly damaging	Het
Notch3	A	T	17: 32,372,778 (GRCm39)	C598S	probably damaging	Het
Npat	A	T	9: 53,469,435 (GRCm39)	H307L	probably damaging	Het
Nr1h2	T	C	7: 44,200,791 (GRCm39)	Q279R	possibly damaging	Het
Or4k52	T	C	2: 111,611,016 (GRCm39)	V117A	probably benign	Het
Or6c6c	A	G	10: 129,540,794 (GRCm39)	T16A	possibly damaging	Het
Pcdhb16	A	T	18: 37,612,983 (GRCm39)	N648Y	probably damaging	Het
Pdzrn3	G	T	6: 101,127,752 (GRCm39)	S971R	probably damaging	Het
Plch2	A	G	4: 155,070,621 (GRCm39)	*494Q	probably null	Het
Plekhg4	T	A	8: 106,108,468 (GRCm39)	D1170E	probably benign	Het
Plekhm3	A	G	1: 64,977,015 (GRCm39)	S152P	probably damaging	Het
Ppargc1b	G	A	18: 61,440,870 (GRCm39)	P683S	possibly damaging	Het
Prdm12	T	G	2: 31,541,864 (GRCm39)	M191R	probably benign	Het
Prp2	C	T	6: 132,576,874 (GRCm39)	P54S	unknown	Het
Prpf4b	A	G	13: 35,067,324 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,468,840 (GRCm39)	V1408E	probably damaging	Het
Rap1gds1	A	G	3: 138,662,011 (GRCm39)	M415T	probably damaging	Het
Rps6ka5	A	G	12: 100,520,664 (GRCm39)	F621S	probably damaging	Het
Rrm1	T	A	7: 102,092,279 (GRCm39)	D35E	probably benign	Het
Rxfp3	T	C	15: 11,036,226 (GRCm39)	H382R	probably damaging	Het
Slc11a1	A	G	1: 74,422,910 (GRCm39)		probably benign	Het
Slc25a13	A	T	6: 6,114,017 (GRCm39)	M285K	probably benign	Het
Slc30a3	T	C	5: 31,246,038 (GRCm39)	S231G	probably damaging	Het
Slc44a2	A	T	9: 21,256,130 (GRCm39)	I274F	probably damaging	Het
Tas2r119	A	G	15: 32,178,165 (GRCm39)	I244V	possibly damaging	Het
Tenm2	C	A	11: 35,918,018 (GRCm39)	R1914L	probably damaging	Het
Tfdp2	T	C	9: 96,192,643 (GRCm39)	M242T	probably damaging	Het
Tmprss6	A	G	15: 78,349,304 (GRCm39)		probably benign	Het
Ttc6	C	T	12: 57,668,821 (GRCm39)	P421L	possibly damaging	Het
Usp16	T	A	16: 87,263,246 (GRCm39)		probably null	Het
Usp40	T	C	1: 87,909,804 (GRCm39)	E550G	probably benign	Het
Vmn2r28	T	C	7: 5,491,701 (GRCm39)	Y182C	probably damaging	Het
Zfp382	A	G	7: 29,833,174 (GRCm39)	D275G	probably benign	Het

Other mutations in Prdm14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02149:Prdm14	APN	1	13,195,663 (GRCm39)	missense	probably benign	0.07
R0099:Prdm14	UTSW	1	13,189,169 (GRCm39)	missense	probably damaging	0.96
R0243:Prdm14	UTSW	1	13,192,672 (GRCm39)	missense	probably damaging	1.00
R0312:Prdm14	UTSW	1	13,189,031 (GRCm39)	missense	probably damaging	1.00
R0576:Prdm14	UTSW	1	13,195,949 (GRCm39)	missense	possibly damaging	0.87
R0781:Prdm14	UTSW	1	13,184,585 (GRCm39)	missense	probably damaging	0.99
R0791:Prdm14	UTSW	1	13,195,968 (GRCm39)	missense	probably benign	0.30
R0792:Prdm14	UTSW	1	13,195,968 (GRCm39)	missense	probably benign	0.30
R0855:Prdm14	UTSW	1	13,195,761 (GRCm39)	missense	probably benign	0.00
R0905:Prdm14	UTSW	1	13,195,662 (GRCm39)	missense	probably benign	0.00
R1467:Prdm14	UTSW	1	13,194,756 (GRCm39)	splice site	probably benign
R1747:Prdm14	UTSW	1	13,192,627 (GRCm39)	missense	possibly damaging	0.83
R1771:Prdm14	UTSW	1	13,189,082 (GRCm39)	missense	probably damaging	1.00
R2073:Prdm14	UTSW	1	13,195,954 (GRCm39)	missense	possibly damaging	0.95
R2170:Prdm14	UTSW	1	13,192,684 (GRCm39)	missense	probably damaging	1.00
R4948:Prdm14	UTSW	1	13,192,855 (GRCm39)	missense	probably damaging	1.00
R6267:Prdm14	UTSW	1	13,189,160 (GRCm39)	missense	probably damaging	1.00
R6902:Prdm14	UTSW	1	13,192,645 (GRCm39)	missense	probably benign
R7452:Prdm14	UTSW	1	13,195,783 (GRCm39)	missense	probably damaging	0.98
R8066:Prdm14	UTSW	1	13,184,540 (GRCm39)	missense	probably benign	0.00
R8265:Prdm14	UTSW	1	13,184,618 (GRCm39)	missense	probably damaging	1.00
R9294:Prdm14	UTSW	1	13,192,707 (GRCm39)	missense	possibly damaging	0.89
R9597:Prdm14	UTSW	1	13,192,657 (GRCm39)	missense	possibly damaging	0.82
R9658:Prdm14	UTSW	1	13,189,145 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCGCCGAGGACCAAATTTTG -3'
(R):5'- TCAGCTTGCGATGGCCTTAC -3'

Sequencing Primer
(F):5'- GGTTGCTGGAACCGCTG -3'
(R):5'- TTACCGCCCTCTGGTGAGAC -3'

Posted On

2014-11-12