Mutagenetix > Incidental Mutation

Incidental Mutation 'R1605:Prdm15'

176441

Institutional Source

Beutler Lab

Gene Symbol

Prdm15

Ensembl Gene

ENSMUSG00000014039

Gene Name

PR domain containing 15

Synonyms

Zfp298, E130018M06Rik

MMRRC Submission

039642-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97592667-97653050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97640506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 27 (E27G)

Ref Sequence

ENSEMBL: ENSMUSP00000120497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095849] [ENSMUST00000119200] [ENSMUST00000121584] [ENSMUST00000135505] [ENSMUST00000142295]

AlphaFold

E9Q8T2

Predicted Effect

probably damaging
Transcript: ENSMUST00000095849
AA Change: E53G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: E53G

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 benign
Transcript: ENSMUST00000119200
AA Change: E27G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113002
Gene: ENSMUSG00000014039
AA Change: E27G

Domain	Start	End	E-Value	Type
PDB:3RAY\|A	7	92	1e-6	PDB
Blast:SET	49	110	7e-39	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000121584
AA Change: E27G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: E27G

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

noncoding transcript
Transcript: ENSMUST00000129331

Predicted Effect

probably damaging
Transcript: ENSMUST00000135505
AA Change: E53G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000142295
AA Change: E27G

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

SMART Domains

Protein: ENSMUSP00000120497
Gene: ENSMUSG00000014039
AA Change: E27G

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

Meta Mutation Damage Score

0.3764

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,506,104 (GRCm39)	K211E	probably damaging	Het
Acot7	A	G	4: 152,291,285 (GRCm39)	I84V	possibly damaging	Het
Ankrd44	A	G	1: 54,867,781 (GRCm39)	V34A	probably benign	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Atr	T	A	9: 95,818,516 (GRCm39)	I2163K	probably damaging	Het
Azgp1	A	T	5: 137,983,426 (GRCm39)	R34*	probably null	Het
Ccdc152	T	G	15: 3,327,603 (GRCm39)	K58T	probably damaging	Het
Ccdc88b	T	A	19: 6,827,837 (GRCm39)	Q912L	probably benign	Het
Cdc42ep5	T	A	7: 4,154,395 (GRCm39)	H131L	probably benign	Het
Chd7	G	A	4: 8,844,675 (GRCm39)	E1595K	probably damaging	Het
Col11a1	G	A	3: 113,925,290 (GRCm39)	G41D	probably damaging	Het
Cyp2b23	C	T	7: 26,385,843 (GRCm39)	V5I	probably benign	Het
D430041D05Rik	A	G	2: 104,085,915 (GRCm39)	V22A	possibly damaging	Het
Ddi1	T	C	9: 6,266,012 (GRCm39)	Y119C	probably benign	Het
Dysf	T	C	6: 84,083,923 (GRCm39)	L785P	probably damaging	Het
Eqtn	T	A	4: 94,816,587 (GRCm39)	T69S	possibly damaging	Het
F11	T	A	8: 45,694,617 (GRCm39)	K581N	probably damaging	Het
Gli2	G	A	1: 118,782,290 (GRCm39)	P172S	probably damaging	Het
Gm7579	G	T	7: 141,765,603 (GRCm39)	C3F	unknown	Het
Grin2a	A	G	16: 9,481,194 (GRCm39)	V501A	possibly damaging	Het
Grk4	G	A	5: 34,831,901 (GRCm39)	D57N	probably damaging	Het
Gsdma	A	T	11: 98,557,319 (GRCm39)	D86V	probably damaging	Het
Gsx1	A	G	5: 147,126,738 (GRCm39)	E187G	probably damaging	Het
Hdac1-ps	A	G	17: 78,799,537 (GRCm39)	D176G	probably damaging	Het
Inpp5k	T	A	11: 75,524,307 (GRCm39)	F75L	probably benign	Het
Itpr1	T	C	6: 108,326,620 (GRCm39)	V114A	possibly damaging	Het
Izumo3	A	T	4: 92,032,977 (GRCm39)	C130S	probably damaging	Het
Mei4	G	A	9: 81,809,639 (GRCm39)	E241K	possibly damaging	Het
Mocs2	T	C	13: 114,961,120 (GRCm39)	V39A	probably benign	Het
Mroh2b	G	A	15: 4,974,572 (GRCm39)	R1184H	probably benign	Het
Msh3	T	C	13: 92,436,783 (GRCm39)	Q509R	probably null	Het
Myh8	T	C	11: 67,192,497 (GRCm39)	W1459R	probably damaging	Het
Mypop	T	A	7: 18,734,918 (GRCm39)		probably benign	Het
Ndc1	C	A	4: 107,225,293 (GRCm39)	T3K	probably damaging	Het
Nf1	A	C	11: 79,331,749 (GRCm39)	M695L	probably benign	Het
Nup50l	A	G	6: 96,141,793 (GRCm39)	M417T	probably benign	Het
Nutm2	C	A	13: 50,623,955 (GRCm39)	D217E	possibly damaging	Het
Or52a20	T	C	7: 103,365,858 (GRCm39)	I19T	probably damaging	Het
Or5b122	A	G	19: 13,562,994 (GRCm39)	T109A	probably benign	Het
Pde6c	C	A	19: 38,129,940 (GRCm39)	D283E	probably damaging	Het
Phldb2	A	G	16: 45,591,142 (GRCm39)		probably benign	Het
Pigt	G	C	2: 164,349,419 (GRCm39)	R574P	probably damaging	Het
Pkd1	T	C	17: 24,796,500 (GRCm39)	I2354T	possibly damaging	Het
Ptpn14	A	G	1: 189,597,709 (GRCm39)	I1140V	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rfx7	T	C	9: 72,519,071 (GRCm39)	S258P	probably damaging	Het
Rnf17	G	T	14: 56,730,822 (GRCm39)	G1209C	probably damaging	Het
S1pr4	C	T	10: 81,335,225 (GRCm39)		probably null	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpinb1b	T	A	13: 33,277,646 (GRCm39)	V293E	possibly damaging	Het
Serpinb9b	T	C	13: 33,222,112 (GRCm39)		probably null	Het
Sez6l	A	C	5: 112,622,915 (GRCm39)	I212S	probably damaging	Het
Son	T	C	16: 91,454,552 (GRCm39)	S1100P	probably damaging	Het
Spag9	G	A	11: 93,939,365 (GRCm39)	R98H	probably damaging	Het
Spata31e2	A	T	1: 26,723,511 (GRCm39)	H556Q	possibly damaging	Het
St3gal5	T	C	6: 72,119,272 (GRCm39)	L128P	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Stxbp5l	A	G	16: 37,028,473 (GRCm39)	V530A	probably benign	Het
Tatdn1	A	G	15: 58,793,039 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,430,206 (GRCm39)	S466P	probably benign	Het
Tmem199	A	T	11: 78,399,152 (GRCm39)	M175K	possibly damaging	Het
Trmt12	A	G	15: 58,744,764 (GRCm39)	E54G	probably benign	Het
Usp37	G	T	1: 74,532,163 (GRCm39)	Q77K	possibly damaging	Het
Vezf1	A	G	11: 87,967,125 (GRCm39)	I301V	possibly damaging	Het
Vmn1r34	T	G	6: 66,613,932 (GRCm39)	M269L	probably benign	Het
Wdr93	C	A	7: 79,421,257 (GRCm39)		probably null	Het
Wnk2	T	C	13: 49,214,370 (GRCm39)	D644G	probably damaging	Het
Zc3h13	C	T	14: 75,574,923 (GRCm39)	R1591*	probably null	Het
Zfp131	G	A	13: 120,230,316 (GRCm39)	L371F	probably damaging	Het
Zfp180	T	A	7: 23,804,049 (GRCm39)	V156D	probably benign	Het
Zfp646	G	T	7: 127,479,359 (GRCm39)		probably null	Het
Zscan12	C	A	13: 21,550,813 (GRCm39)	T144K	probably benign	Het

Other mutations in Prdm15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Prdm15	APN	16	97,607,367 (GRCm39)	splice site	probably benign
IGL01325:Prdm15	APN	16	97,607,717 (GRCm39)	missense	probably damaging	1.00
IGL02195:Prdm15	APN	16	97,637,029 (GRCm39)	missense	probably damaging	1.00
IGL02473:Prdm15	APN	16	97,638,805 (GRCm39)	splice site	probably null
IGL02502:Prdm15	APN	16	97,640,539 (GRCm39)	missense	probably damaging	1.00
IGL02604:Prdm15	APN	16	97,623,142 (GRCm39)	missense	probably benign
R0408:Prdm15	UTSW	16	97,636,986 (GRCm39)	missense	possibly damaging	0.92
R0437:Prdm15	UTSW	16	97,613,759 (GRCm39)	missense	probably benign	0.00
R0497:Prdm15	UTSW	16	97,595,534 (GRCm39)	missense	possibly damaging	0.63
R0590:Prdm15	UTSW	16	97,598,961 (GRCm39)	missense	possibly damaging	0.95
R0630:Prdm15	UTSW	16	97,638,907 (GRCm39)	missense	probably null	1.00
R0661:Prdm15	UTSW	16	97,630,882 (GRCm39)	missense	probably benign	0.34
R0718:Prdm15	UTSW	16	97,613,833 (GRCm39)	missense	possibly damaging	0.89
R1144:Prdm15	UTSW	16	97,609,908 (GRCm39)	missense	probably damaging	1.00
R1240:Prdm15	UTSW	16	97,638,800 (GRCm39)	missense	probably damaging	0.98
R1908:Prdm15	UTSW	16	97,638,885 (GRCm39)	missense	probably benign	0.27
R2081:Prdm15	UTSW	16	97,604,980 (GRCm39)	nonsense	probably null
R2208:Prdm15	UTSW	16	97,600,464 (GRCm39)	splice site	probably null
R3787:Prdm15	UTSW	16	97,598,945 (GRCm39)	missense	probably benign	0.00
R3890:Prdm15	UTSW	16	97,600,771 (GRCm39)	missense	probably damaging	1.00
R4326:Prdm15	UTSW	16	97,607,715 (GRCm39)	missense	probably damaging	1.00
R4728:Prdm15	UTSW	16	97,622,986 (GRCm39)	missense	probably benign	0.04
R4952:Prdm15	UTSW	16	97,607,277 (GRCm39)	missense	probably damaging	0.99
R4998:Prdm15	UTSW	16	97,595,689 (GRCm39)	missense	probably damaging	0.97
R5225:Prdm15	UTSW	16	97,609,875 (GRCm39)	missense	probably damaging	1.00
R5505:Prdm15	UTSW	16	97,618,183 (GRCm39)	missense	possibly damaging	0.76
R5628:Prdm15	UTSW	16	97,600,823 (GRCm39)	missense	probably damaging	0.98
R5721:Prdm15	UTSW	16	97,608,296 (GRCm39)	missense	possibly damaging	0.74
R5873:Prdm15	UTSW	16	97,609,889 (GRCm39)	missense	probably damaging	1.00
R5980:Prdm15	UTSW	16	97,613,770 (GRCm39)	nonsense	probably null
R6311:Prdm15	UTSW	16	97,600,255 (GRCm39)	missense	probably null	0.08
R6540:Prdm15	UTSW	16	97,637,005 (GRCm39)	missense	probably benign	0.13
R7053:Prdm15	UTSW	16	97,595,742 (GRCm39)	nonsense	probably null
R7241:Prdm15	UTSW	16	97,596,941 (GRCm39)	missense	possibly damaging	0.50
R7468:Prdm15	UTSW	16	97,636,842 (GRCm39)	nonsense	probably null
R7473:Prdm15	UTSW	16	97,623,046 (GRCm39)	missense	possibly damaging	0.68
R7762:Prdm15	UTSW	16	97,619,473 (GRCm39)	missense	probably benign	0.00
R7911:Prdm15	UTSW	16	97,613,792 (GRCm39)	missense	probably benign	0.35
R8053:Prdm15	UTSW	16	97,636,807 (GRCm39)	missense	probably benign	0.17
R8127:Prdm15	UTSW	16	97,638,910 (GRCm39)	missense	probably benign	0.24
R8213:Prdm15	UTSW	16	97,608,260 (GRCm39)	missense	probably damaging	1.00
R8708:Prdm15	UTSW	16	97,618,066 (GRCm39)	missense	unknown
R8768:Prdm15	UTSW	16	97,638,888 (GRCm39)	missense	probably benign
R9000:Prdm15	UTSW	16	97,595,470 (GRCm39)	missense	probably benign	0.03
R9513:Prdm15	UTSW	16	97,607,704 (GRCm39)	missense	probably damaging	1.00
R9583:Prdm15	UTSW	16	97,623,142 (GRCm39)	missense	probably benign
RF002:Prdm15	UTSW	16	97,600,829 (GRCm39)	missense	probably damaging	1.00
RF021:Prdm15	UTSW	16	97,609,956 (GRCm39)	missense	probably damaging	1.00
Z1177:Prdm15	UTSW	16	97,618,159 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- ACTGATAAAATCCAGGCTGGCACAG -3'
(R):5'- GCTTTCAGGAGCACTAAGAGGTGAC -3'

Sequencing Primer
(F):5'- TCTCACCCTAGTGGGAAAGTG -3'
(R):5'- CAACTGCTGTAACACTAGTCTTTG -3'

Posted On

2014-04-24