Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Prdm15'

602587

Institutional Source

Beutler Lab

Gene Symbol

Prdm15

Ensembl Gene

ENSMUSG00000014039

Gene Name

PR domain containing 15

Synonyms

Zfp298, E130018M06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97791467-97851850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97799629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 810 (D810N)

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: D836N

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

SMART Domains

Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: D836N

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: D810N

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

SMART Domains

Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: D810N

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: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably 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
RF021:Prdm15	UTSW	16	97808756	missense	probably damaging	1.00
Z1177:Prdm15	UTSW	16	97816959	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- ACGGTCCTATTCTGCAAGTG -3'
(R):5'- GTGTTCTTAGGCCTTCACAAATCTC -3'

Sequencing Primer
(F):5'- GTTTATGAAACAGAGCAGGTGTTCTC -3'
(R):5'- GGCCTAAATTTGAGGTCACAGTTTTC -3'

Posted On

2019-12-04