Mutagenetix > Incidental Mutation

Incidental Mutation 'R5602:Prdm4'

501215

Institutional Source

Beutler Lab

Gene Symbol

Prdm4

Ensembl Gene

ENSMUSG00000035529

Gene Name

PR domain containing 4

Synonyms

2810470D21Rik, SC-1, 1700031E19Rik

MMRRC Submission

043154-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5602 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

85891966-85917142 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

TCTCCTCCT to TCTCCT at 85893123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001836] [ENSMUST00000037646] [ENSMUST00000219370] [ENSMUST00000220032]

AlphaFold

Q80V63

Predicted Effect

probably benign
Transcript: ENSMUST00000001836

SMART Domains

Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Blast:WD40	168	220	4e-27	BLAST
WD40	244	284	4.51e-7	SMART
WD40	287	327	3.37e-6	SMART
WD40	331	370	4.42e1	SMART
WD40	373	413	6.38e-7	SMART
Blast:WD40	418	458	3e-23	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000037646

SMART Domains

Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
low complexity region	33	44	N/A	INTRINSIC
low complexity region	51	69	N/A	INTRINSIC
low complexity region	339	353	N/A	INTRINSIC
PDB:3DB5\|B	386	543	2e-98	PDB
Blast:SET	408	538	5e-82	BLAST
ZnF_C2H2	548	569	7.77e1	SMART
low complexity region	575	588	N/A	INTRINSIC
ZnF_C2H2	593	615	3.78e-1	SMART
ZnF_C2H2	621	643	2.27e-4	SMART
ZnF_C2H2	649	671	8.02e-5	SMART
ZnF_C2H2	677	699	3.63e-3	SMART
ZnF_C2H2	705	727	3.11e-2	SMART
ZnF_C2H2	733	753	1.81e1	SMART
low complexity region	759	780	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218743

Predicted Effect

probably benign
Transcript: ENSMUST00000219370

Predicted Effect

probably null
Transcript: ENSMUST00000220032

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the PR/SET family of zinc finger proteins. This protein has been shown to bind DNA in a sequence-specific manner and has been implicated in neural stem cell proliferation and differentiation. Pseudogenes have been identified on chromosomes 14 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for alleles lacking the zinc finger domain or PR/SET domain exhibit no abnormal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	A	9: 92,352,668	C152Y	possibly damaging	Het
4921509C19Rik	G	A	2: 151,473,539	S73F	possibly damaging	Het
4932414N04Rik	A	T	2: 68,748,368	*753L	probably null	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam19	T	C	11: 46,136,315	S592P	probably benign	Het
Adamtsl3	A	G	7: 82,557,239	K843R	possibly damaging	Het
Ap2a2	A	T	7: 141,604,942	T213S	probably benign	Het
Asb5	A	G	8: 54,585,939	E280G	probably benign	Het
Becn1	T	C	11: 101,288,952	D403G	probably damaging	Het
Ccr7	G	T	11: 99,145,489	N202K	probably benign	Het
Cd36	T	C	5: 17,814,792	T104A	possibly damaging	Het
Cnot4	C	T	6: 35,051,529	W384*	probably null	Het
Col15a1	G	A	4: 47,312,087	V1301M	probably damaging	Het
Dock2	C	A	11: 34,254,391	A1384S	probably benign	Het
Ehbp1l1	T	C	19: 5,708,670	E1648G	possibly damaging	Het
Fbn1	G	T	2: 125,321,741	A2065E	possibly damaging	Het
Fras1	A	G	5: 96,737,021	Y2586C	probably damaging	Het
Galm	T	A	17: 80,150,139	Y28*	probably null	Het
Ggt7	A	G	2: 155,490,999	V648A	possibly damaging	Het
Gm17067	T	A	7: 42,708,415	D221V	probably damaging	Het
Gpr3	T	C	4: 133,210,494	N289S	probably damaging	Het
Ighv11-2	G	A	12: 114,048,479	L39F	probably damaging	Het
Ighv11-2	A	G	12: 114,048,657		probably benign	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Jak2	T	A	19: 29,298,339	N726K	probably benign	Het
Map4	T	C	9: 110,052,700	S211P	possibly damaging	Het
Mlh1	A	T	9: 111,252,878	L259Q	probably damaging	Het
Naa25	A	G	5: 121,420,495	E300G	probably benign	Het
Olfr954	A	T	9: 39,462,030	M200L	probably benign	Het
Olfr969	T	A	9: 39,796,194	V273E	possibly damaging	Het
Parva	G	A	7: 112,567,765	V182I	probably benign	Het
Pcdhgb4	T	C	18: 37,721,644	I364T	probably damaging	Het
Pdik1l	A	G	4: 134,284,269	S164P	probably damaging	Het
Pfas	A	T	11: 68,991,045	I938N	probably benign	Het
Prob1	C	T	18: 35,654,026	V392M	possibly damaging	Het
Rasgrf1	T	C	9: 89,911,571	S134P	possibly damaging	Het
Rorb	T	A	19: 18,977,937	Y20F	probably damaging	Het
Rsph9	G	T	17: 46,134,983	D220E	probably damaging	Het
Safb2	C	A	17: 56,575,630	K334N	possibly damaging	Het
Sall3	T	C	18: 80,972,812	T634A	probably benign	Het
Scaf1	A	G	7: 45,007,583		probably benign	Het
Slco1a5	T	A	6: 142,275,529		probably benign	Het
Spata21	C	T	4: 141,096,899	R158C	probably benign	Het
Srrm2	G	A	17: 23,819,337		probably benign	Het
Stk38l	C	A	6: 146,758,500	T10N	probably benign	Het
Supv3l1	G	A	10: 62,430,592	P602S	possibly damaging	Het
Timm44	C	T	8: 4,266,769		probably null	Het
Tll2	T	A	19: 41,104,981	R465S	possibly damaging	Het
Tmem104	G	A	11: 115,205,124	A164T	probably damaging	Het
Tmem151b	A	G	17: 45,545,600	S305P	probably damaging	Het
Utrn	T	C	10: 12,750,095	D114G	probably damaging	Het
Vmn2r109	A	T	17: 20,540,671	M808K	possibly damaging	Het
Washc2	T	A	6: 116,248,095	D801E	possibly damaging	Het
Xkr4	T	C	1: 3,216,528	I480V	probably benign	Het
Zfp507	G	T	7: 35,776,238	S58*	probably null	Het
Zfp768	T	A	7: 127,344,632	D108V	possibly damaging	Het

Other mutations in Prdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01864:Prdm4	APN	10	85893236	missense	probably benign	0.08
IGL02514:Prdm4	APN	10	85907917	missense	probably damaging	0.99
IGL02576:Prdm4	APN	10	85900937	missense	possibly damaging	0.86
IGL02674:Prdm4	APN	10	85893399	missense	probably damaging	0.99
IGL03002:Prdm4	APN	10	85893152	missense	probably benign	0.08
IGL03153:Prdm4	APN	10	85907996	missense	probably benign
IGL03278:Prdm4	APN	10	85907758	missense	probably damaging	0.99
IGL03338:Prdm4	APN	10	85907821	missense	possibly damaging	0.90
R0020:Prdm4	UTSW	10	85907623	missense	probably benign
R0133:Prdm4	UTSW	10	85910221	critical splice donor site	probably null
R0366:Prdm4	UTSW	10	85908004	missense	probably damaging	1.00
R0633:Prdm4	UTSW	10	85907903	missense	probably damaging	1.00
R1132:Prdm4	UTSW	10	85899281	missense	probably damaging	1.00
R1460:Prdm4	UTSW	10	85907822	missense	probably benign	0.28
R1477:Prdm4	UTSW	10	85904265	missense	probably benign	0.00
R1680:Prdm4	UTSW	10	85899223	missense	possibly damaging	0.96
R1772:Prdm4	UTSW	10	85893392	missense	probably damaging	0.99
R1983:Prdm4	UTSW	10	85907953	missense	probably damaging	1.00
R2136:Prdm4	UTSW	10	85893351	nonsense	probably null
R3426:Prdm4	UTSW	10	85910289	missense	probably damaging	1.00
R3723:Prdm4	UTSW	10	85899281	missense	probably damaging	1.00
R4490:Prdm4	UTSW	10	85900899	missense	probably damaging	1.00
R4750:Prdm4	UTSW	10	85899221	missense	probably damaging	1.00
R5561:Prdm4	UTSW	10	85893123	makesense	probably null
R5601:Prdm4	UTSW	10	85893123	makesense	probably null
R5604:Prdm4	UTSW	10	85893123	makesense	probably null
R5972:Prdm4	UTSW	10	85907501	missense	probably damaging	1.00
R6272:Prdm4	UTSW	10	85907830	missense	possibly damaging	0.82
R6300:Prdm4	UTSW	10	85910221	critical splice donor site	probably null
R6457:Prdm4	UTSW	10	85908032	missense	probably damaging	1.00
R6605:Prdm4	UTSW	10	85904138	missense	probably benign	0.00
R6642:Prdm4	UTSW	10	85907818	missense	probably benign	0.00
R7663:Prdm4	UTSW	10	85899281	missense	probably damaging	1.00
R9064:Prdm4	UTSW	10	85901814	missense	probably damaging	0.98
R9071:Prdm4	UTSW	10	85893212	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGGGCACTTTGACTCAAGC -3'
(R):5'- CCTGAAGACCTGCAAAGAGC -3'

Sequencing Primer
(F):5'- CAGATAGTAAAAGTTGGCCCTCTC -3'
(R):5'- GACCTGCAAAGAGCCCAGC -3'

Posted On

2017-12-01