Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Prdm15'

603905

Institutional Source

Beutler Lab

Gene Symbol

Prdm15

Ensembl Gene

ENSMUSG00000014039

Gene Name

PR domain containing 15

Synonyms

Zfp298, E130018M06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97791467-97851850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97808756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 563 (H563Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095849] [ENSMUST00000121584] [ENSMUST00000142295]

AlphaFold

E9Q8T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095849
AA Change: H589Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: H589Y

Domain	Start	End	E-Value	Type
SET	75	191	5.96e-1	SMART
ZnF_C2H2	223	245	3.99e0	SMART
low complexity region	290	303	N/A	INTRINSIC
ZnF_C2H2	402	424	3.89e-3	SMART
ZnF_C2H2	434	457	2.75e-3	SMART
ZnF_C2H2	468	488	1.88e2	SMART
ZnF_C2H2	495	517	5.42e-2	SMART
ZnF_C2H2	522	544	1.36e-2	SMART
ZnF_C2H2	571	593	6.23e-2	SMART
ZnF_C2H2	598	620	2.75e-3	SMART
low complexity region	642	657	N/A	INTRINSIC
ZnF_C2H2	661	684	2.17e-1	SMART
ZnF_C2H2	689	711	3.24e0	SMART
ZnF_C2H2	725	747	1.38e-3	SMART
ZnF_C2H2	753	775	5.67e-5	SMART
ZnF_C2H2	781	803	3.11e-2	SMART
ZnF_C2H2	809	831	8.34e-3	SMART
ZnF_C2H2	837	859	4.79e-3	SMART
ZnF_C2H2	865	888	4.79e-3	SMART
ZnF_C2H2	894	917	5.06e-2	SMART
low complexity region	948	959	N/A	INTRINSIC
low complexity region	1148	1170	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121584
AA Change: H563Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: H563Y

Domain	Start	End	E-Value	Type
SET	49	165	5.96e-1	SMART
ZnF_C2H2	197	219	3.99e0	SMART
low complexity region	264	277	N/A	INTRINSIC
ZnF_C2H2	376	398	3.89e-3	SMART
ZnF_C2H2	408	431	2.75e-3	SMART
ZnF_C2H2	442	462	1.88e2	SMART
ZnF_C2H2	469	491	5.42e-2	SMART
ZnF_C2H2	496	518	1.36e-2	SMART
ZnF_C2H2	545	567	6.23e-2	SMART
ZnF_C2H2	572	594	2.75e-3	SMART
low complexity region	616	631	N/A	INTRINSIC
ZnF_C2H2	635	658	2.17e-1	SMART
ZnF_C2H2	663	685	3.24e0	SMART
ZnF_C2H2	699	721	1.38e-3	SMART
ZnF_C2H2	727	749	5.67e-5	SMART
ZnF_C2H2	755	777	3.11e-2	SMART
ZnF_C2H2	783	805	8.34e-3	SMART
ZnF_C2H2	811	833	4.79e-3	SMART
ZnF_C2H2	839	862	4.79e-3	SMART
ZnF_C2H2	868	891	5.06e-2	SMART
low complexity region	922	933	N/A	INTRINSIC
low complexity region	1122	1144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142295

SMART Domains

Protein: ENSMUSP00000120497
Gene: ENSMUSG00000014039

Domain	Start	End	E-Value	Type
SET	49	165	5.96e-1	SMART
low complexity region	230	243	N/A	INTRINSIC
ZnF_C2H2	342	364	3.89e-3	SMART
ZnF_C2H2	369	392	2.75e-3	SMART
ZnF_C2H2	403	423	1.88e2	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773		probably benign	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106		probably benign	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Ttbk2	A	G	2: 120,748,634	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly damaging	Het

Other mutations in Prdm15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Prdm15	APN	16	97806167	splice site	probably benign
IGL01325:Prdm15	APN	16	97806517	missense	probably damaging	1.00
IGL02195:Prdm15	APN	16	97835829	missense	probably damaging	1.00
IGL02473:Prdm15	APN	16	97837605	splice site	probably null
IGL02502:Prdm15	APN	16	97839339	missense	probably damaging	1.00
IGL02604:Prdm15	APN	16	97821942	missense	probably benign
R0408:Prdm15	UTSW	16	97835786	missense	possibly damaging	0.92
R0437:Prdm15	UTSW	16	97812559	missense	probably benign	0.00
R0497:Prdm15	UTSW	16	97794334	missense	possibly damaging	0.63
R0590:Prdm15	UTSW	16	97797761	missense	possibly damaging	0.95
R0630:Prdm15	UTSW	16	97837707	missense	probably null	1.00
R0661:Prdm15	UTSW	16	97829682	missense	probably benign	0.34
R0718:Prdm15	UTSW	16	97812633	missense	possibly damaging	0.89
R1144:Prdm15	UTSW	16	97808708	missense	probably damaging	1.00
R1240:Prdm15	UTSW	16	97837600	missense	probably damaging	0.98
R1605:Prdm15	UTSW	16	97839306	missense	probably damaging	1.00
R1908:Prdm15	UTSW	16	97837685	missense	probably benign	0.27
R2081:Prdm15	UTSW	16	97803780	nonsense	probably null
R2208:Prdm15	UTSW	16	97799264	splice site	probably null
R3787:Prdm15	UTSW	16	97797745	missense	probably benign	0.00
R3890:Prdm15	UTSW	16	97799571	missense	probably damaging	1.00
R4326:Prdm15	UTSW	16	97806515	missense	probably damaging	1.00
R4728:Prdm15	UTSW	16	97821786	missense	probably benign	0.04
R4952:Prdm15	UTSW	16	97806077	missense	probably damaging	0.99
R4998:Prdm15	UTSW	16	97794489	missense	probably damaging	0.97
R5225:Prdm15	UTSW	16	97808675	missense	probably damaging	1.00
R5505:Prdm15	UTSW	16	97816983	missense	possibly damaging	0.76
R5628:Prdm15	UTSW	16	97799623	missense	probably damaging	0.98
R5721:Prdm15	UTSW	16	97807096	missense	possibly damaging	0.74
R5873:Prdm15	UTSW	16	97808689	missense	probably damaging	1.00
R5980:Prdm15	UTSW	16	97812570	nonsense	probably null
R6311:Prdm15	UTSW	16	97799055	missense	probably null	0.08
R6540:Prdm15	UTSW	16	97835805	missense	probably benign	0.13
R7053:Prdm15	UTSW	16	97794542	nonsense	probably null
R7241:Prdm15	UTSW	16	97795741	missense	possibly damaging	0.50
R7468:Prdm15	UTSW	16	97835642	nonsense	probably null
R7473:Prdm15	UTSW	16	97821846	missense	possibly damaging	0.68
R7762:Prdm15	UTSW	16	97818273	missense	probably benign	0.00
R7911:Prdm15	UTSW	16	97812592	missense	probably benign	0.35
R8053:Prdm15	UTSW	16	97835607	missense	probably benign	0.17
R8127:Prdm15	UTSW	16	97837710	missense	probably benign	0.24
R8213:Prdm15	UTSW	16	97807060	missense	probably damaging	1.00
R8708:Prdm15	UTSW	16	97816866	missense	unknown
R8768:Prdm15	UTSW	16	97837688	missense	probably benign
R9000:Prdm15	UTSW	16	97794270	missense	probably benign	0.03
R9513:Prdm15	UTSW	16	97806504	missense	probably damaging	1.00
R9583:Prdm15	UTSW	16	97821942	missense	probably benign
RF002:Prdm15	UTSW	16	97799629	missense	probably damaging	1.00
Z1177:Prdm15	UTSW	16	97816959	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- GCTGGTAAGTGCCTCATCTATGTAC -3'
(R):5'- TACTCCATTGCAGCAGAGGC -3'

Sequencing Primer
(F):5'- TATGTACTAAGAGATACTGCCCCAGG -3'
(R):5'- CAGCGTGTCTGTTGTGGTG -3'

Posted On

2019-12-04