Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02149:Prdm14'

281910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prdm14

Ensembl Gene

ENSMUSG00000042414

Gene Name

PR domain containing 14

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02149

Quality Score

Status

Chromosome

Chromosomal Location

13183681-13197387 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13195663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 133 (G133C)

Ref Sequence

ENSEMBL: ENSMUSP00000044245 (fasta)

Gene Model

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

AlphaFold

E9Q3T6

Predicted Effect

probably benign
Transcript: ENSMUST00000047577
AA Change: G133C

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000044245
Gene: ENSMUSG00000042414
AA Change: G133C

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	T	9: 70,610,713 (GRCm39)	H67L	probably damaging	Het
Adgrb1	C	T	15: 74,412,326 (GRCm39)	T435I	probably damaging	Het
Adgrd1	T	A	5: 129,256,325 (GRCm39)	F652Y	probably damaging	Het
Adgrl4	T	A	3: 151,205,991 (GRCm39)	F250Y	possibly damaging	Het
Aebp2	C	T	6: 140,588,010 (GRCm39)	A360V	probably benign	Het
AW551984	A	C	9: 39,504,220 (GRCm39)	M582R	probably benign	Het
B430306N03Rik	T	C	17: 48,624,020 (GRCm39)	V107A	probably benign	Het
Cage1	T	C	13: 38,206,505 (GRCm39)	N447D	probably damaging	Het
Col17a1	T	C	19: 47,657,071 (GRCm39)	D524G	probably benign	Het
Dpp6	A	T	5: 27,743,022 (GRCm39)	I218F	probably benign	Het
Ep300	T	G	15: 81,512,621 (GRCm39)		probably benign	Het
Ephb2	C	T	4: 136,421,225 (GRCm39)	C375Y	probably damaging	Het
Fastk	A	G	5: 24,649,051 (GRCm39)	V112A	probably damaging	Het
Fbxo11	T	A	17: 88,301,187 (GRCm39)	R775S	possibly damaging	Het
Fbxw20	A	G	9: 109,062,886 (GRCm39)		probably null	Het
Hamp2	G	T	7: 30,622,122 (GRCm39)	A50E	probably damaging	Het
Il22b	C	A	10: 118,130,902 (GRCm39)		probably benign	Het
Ints1	G	A	5: 139,737,715 (GRCm39)	R2139C	probably damaging	Het
Itgae	T	A	11: 72,994,720 (GRCm39)	V24E	probably benign	Het
Jakmip3	G	A	7: 138,609,075 (GRCm39)	V60M	possibly damaging	Het
Kcnk10	A	C	12: 98,485,099 (GRCm39)		probably benign	Het
Klra1	A	T	6: 130,352,293 (GRCm39)	C150S	probably damaging	Het
Lhx9	A	T	1: 138,759,172 (GRCm39)	V376E	probably damaging	Het
Mdm1	T	A	10: 117,983,970 (GRCm39)	F199I	probably damaging	Het
Nipal3	G	T	4: 135,194,163 (GRCm39)	T290K	possibly damaging	Het
Obsl1	C	T	1: 75,480,464 (GRCm39)	E387K	probably damaging	Het
Or8b43	A	G	9: 38,360,693 (GRCm39)	H175R	probably damaging	Het
Oxct1	A	G	15: 4,120,711 (GRCm39)	Y265C	probably damaging	Het
Pccb	G	A	9: 100,867,243 (GRCm39)	H411Y	probably damaging	Het
Pkp1	A	G	1: 135,814,485 (GRCm39)	S279P	probably benign	Het
Prkaa2	A	T	4: 104,897,285 (GRCm39)	N309K	probably benign	Het
Shc2	T	C	10: 79,458,102 (GRCm39)	D527G	probably damaging	Het
Shkbp1	C	T	7: 27,042,064 (GRCm39)		probably benign	Het
Skil	T	C	3: 31,151,856 (GRCm39)	V126A	possibly damaging	Het
Slc25a36	A	T	9: 96,975,122 (GRCm39)		probably benign	Het
Slc2a13	T	C	15: 91,227,924 (GRCm39)	T423A	probably benign	Het
Spty2d1	A	G	7: 46,657,892 (GRCm39)		probably benign	Het
Stag1	A	G	9: 100,769,442 (GRCm39)	D519G	probably benign	Het
Tmprss2	G	T	16: 97,400,479 (GRCm39)		probably benign	Het
Trim66	G	T	7: 109,060,109 (GRCm39)	T759K	possibly damaging	Het
Trpc4ap	C	A	2: 155,481,467 (GRCm39)	A530S	probably damaging	Het
Ttn	A	T	2: 76,642,099 (GRCm39)	D11625E	probably damaging	Het
Ube4b	T	C	4: 149,483,141 (GRCm39)	I42M	possibly damaging	Het
Ubxn10	A	G	4: 138,448,584 (GRCm39)	S31P	probably benign	Het
Ubxn7	A	G	16: 32,194,088 (GRCm39)	Y220C	probably damaging	Het
Vmn1r234	A	G	17: 21,449,269 (GRCm39)	Y61C	probably benign	Het

Other mutations in Prdm14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16