Mutagenetix > Incidental Mutation

Incidental Mutation 'R0576:Prdm14'

56208

Institutional Source

Beutler Lab

Gene Symbol

Prdm14

Ensembl Gene

ENSMUSG00000042414

Gene Name

PR domain containing 14

Synonyms

MMRRC Submission

038766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0576 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

13183681-13197387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13195949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 37 (S37R)

Ref Sequence

ENSEMBL: ENSMUSP00000044245 (fasta)

Gene Model

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

AlphaFold

E9Q3T6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047577
AA Change: S37R

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044245
Gene: ENSMUSG00000042414
AA Change: S37R

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

0.1795

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

92% (47/51)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc77	T	A	6: 120,308,809 (GRCm39)	L335F	probably benign	Het
Ccr3	T	A	9: 123,829,046 (GRCm39)	F127Y	probably damaging	Het
Cfap43	T	C	19: 47,785,579 (GRCm39)	N437S	probably benign	Het
Cfh	A	G	1: 140,064,553 (GRCm39)	V365A	probably damaging	Het
Copg1	T	A	6: 87,874,945 (GRCm39)	V380D	probably damaging	Het
Cxxc1	T	C	18: 74,353,256 (GRCm39)	I497T	possibly damaging	Het
Disp3	G	A	4: 148,326,047 (GRCm39)	T1237I	possibly damaging	Het
Dnaaf9	A	T	2: 130,555,390 (GRCm39)	F839L	probably benign	Het
Dnah7a	A	T	1: 53,675,246 (GRCm39)	F360L	probably benign	Het
Dnhd1	C	T	7: 105,363,252 (GRCm39)	A3938V	probably damaging	Het
Eif4g1	A	G	16: 20,502,818 (GRCm39)	D1000G	probably damaging	Het
Emsy	A	T	7: 98,242,983 (GRCm39)	V1052D	probably damaging	Het
Ep400	A	G	5: 110,858,959 (GRCm39)		probably benign	Het
Fa2h	T	C	8: 112,082,779 (GRCm39)	H146R	probably damaging	Het
Gad1	G	A	2: 70,424,996 (GRCm39)	C430Y	probably benign	Het
Gtse1	T	C	15: 85,753,252 (GRCm39)	S456P	probably damaging	Het
Gucy2g	T	C	19: 55,187,202 (GRCm39)	T1073A	probably damaging	Het
Hectd2	T	G	19: 36,562,897 (GRCm39)	N3K	probably benign	Het
Hmcn1	A	T	1: 150,525,768 (GRCm39)	C3318*	probably null	Het
Lipo2	C	T	19: 33,726,824 (GRCm39)	S71N	probably benign	Het
Mynn	G	T	3: 30,661,217 (GRCm39)	D100Y	probably damaging	Het
Myo16	G	A	8: 10,612,318 (GRCm39)		probably null	Het
Npr2	G	T	4: 43,640,947 (GRCm39)	K384N	probably benign	Het
Nrde2	A	G	12: 100,098,492 (GRCm39)	V725A	possibly damaging	Het
Or11h23	T	A	14: 50,948,661 (GRCm39)	S291R	probably damaging	Het
Or2l13	A	G	16: 19,305,938 (GRCm39)	M117V	probably damaging	Het
Otud7a	C	T	7: 63,335,266 (GRCm39)	P101S	possibly damaging	Het
Pcdhb7	T	A	18: 37,475,410 (GRCm39)	L182Q	probably benign	Het
Pdss1	A	G	2: 22,805,425 (GRCm39)		probably null	Het
Ppargc1b	T	A	18: 61,444,512 (GRCm39)	H233L	probably damaging	Het
Ppm1b	A	G	17: 85,320,987 (GRCm39)		probably null	Het
Prss45	A	G	9: 110,667,497 (GRCm39)	T39A	probably benign	Het
Qars1	T	C	9: 108,392,161 (GRCm39)		probably benign	Het
Rxfp2	T	G	5: 149,961,712 (GRCm39)	H77Q	probably benign	Het
Scd4	A	G	19: 44,329,685 (GRCm39)	M219V	probably benign	Het
Sec24b	G	T	3: 129,834,985 (GRCm39)	P71Q	probably benign	Het
Snd1	T	G	6: 28,886,576 (GRCm39)	V861G	probably benign	Het
Sspo	A	G	6: 48,441,876 (GRCm39)		probably null	Het
Tas2r129	A	G	6: 132,928,497 (GRCm39)	T145A	probably benign	Het
Tbc1d31	T	A	15: 57,833,120 (GRCm39)	I953N	possibly damaging	Het
Tlr4	A	G	4: 66,757,732 (GRCm39)	N175S	probably benign	Het
Tspyl4	A	G	10: 34,174,518 (GRCm39)	N337D	probably damaging	Het
Ttn	A	T	2: 76,642,545 (GRCm39)	L13330H	probably damaging	Het
Usp33	T	A	3: 152,089,756 (GRCm39)	Y765*	probably null	Het
Vmn2r59	T	A	7: 41,696,529 (GRCm39)	Y71F	probably benign	Het
Zbed6	A	G	1: 133,585,576 (GRCm39)	F587S	probably benign	Het
Zfhx4	T	C	3: 5,467,161 (GRCm39)	S2465P	probably damaging	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
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
R2432:Prdm14	UTSW	1	13,195,857 (GRCm39)	missense	probably benign
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'- TGTACCAGGGCAGATTGTAGAGCG -3'
(R):5'- TTGGCGGGATCGAATTGGGAAC -3'

Sequencing Primer
(F):5'- CAGATTGTAGAGCGGCTCG -3'
(R):5'- CGAATTGGGAACTTTGTTCATTGAC -3'

Posted On

2013-07-11