Mutagenetix > Incidental Mutation

Incidental Mutation 'R4998:Prdm15'

389682

Institutional Source

Beutler Lab

Gene Symbol

Prdm15

Ensembl Gene

ENSMUSG00000014039

Gene Name

PR domain containing 15

Synonyms

Zfp298, E130018M06Rik

MMRRC Submission

042592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4998 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97592667-97653050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97595689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1046 (D1046E)

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: D1072E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: D1072E

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: D1046E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: D1046E

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: ENSMUST00000126916

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136529

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231599

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (91/94)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,271,088 (GRCm39)	V135A	probably damaging	Het
Ankrd42	T	C	7: 92,273,282 (GRCm39)	N115S	possibly damaging	Het
Baz1a	T	C	12: 55,021,922 (GRCm39)	E120G	probably damaging	Het
Calcrl	A	T	2: 84,169,658 (GRCm39)	V341E	probably damaging	Het
Card6	T	C	15: 5,129,564 (GRCm39)	R611G	probably benign	Het
Cd70	A	T	17: 57,453,311 (GRCm39)	S118T	probably damaging	Het
Chil5	T	A	3: 105,927,248 (GRCm39)	I188F	probably damaging	Het
Clca4b	C	T	3: 144,621,269 (GRCm39)	V602I	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Col6a4	A	G	9: 105,867,977 (GRCm39)		probably benign	Het
Cox8b	T	C	7: 140,479,001 (GRCm39)	E38G	probably damaging	Het
Cx3cl1	C	G	8: 95,507,053 (GRCm39)	L353V	probably damaging	Het
Cyp2a4	G	T	7: 26,006,786 (GRCm39)	Q48H	probably damaging	Het
Defb8	T	C	8: 19,497,603 (GRCm39)	I3V	probably benign	Het
Dip2a	A	T	10: 76,155,390 (GRCm39)	L65*	probably null	Het
Dnaaf4	A	G	9: 72,867,960 (GRCm39)	T74A	possibly damaging	Het
Dsg2	A	T	18: 20,734,578 (GRCm39)	D852V	probably benign	Het
Edar	T	C	10: 58,441,915 (GRCm39)	R326G	probably damaging	Het
Egfr	A	G	11: 16,831,493 (GRCm39)	E554G	possibly damaging	Het
Eif2b3	A	C	4: 116,923,589 (GRCm39)	K268T	probably benign	Het
Enox1	A	T	14: 77,738,875 (GRCm39)		probably benign	Het
Enpp3	C	A	10: 24,683,436 (GRCm39)	M260I	probably benign	Het
Espn	A	T	4: 152,220,040 (GRCm39)	M361K	possibly damaging	Het
Fam107a	T	C	14: 8,299,514 (GRCm38)	N108S	possibly damaging	Het
Fbn2	A	T	18: 58,205,703 (GRCm39)	V1125D	probably damaging	Het
Fbxo30	T	A	10: 11,166,507 (GRCm39)	S410T	probably damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fcsk	G	A	8: 111,614,435 (GRCm39)	A618V	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm17416	C	A	2: 152,411,427 (GRCm39)	P57Q	probably damaging	Het
Gm27013	A	T	6: 130,653,501 (GRCm39)	C654S	probably damaging	Het
Gon4l	G	T	3: 88,807,305 (GRCm39)	E1666D	probably damaging	Het
Gypa	T	A	8: 81,222,964 (GRCm39)	S23T	unknown	Het
Gys1	C	A	7: 45,100,968 (GRCm39)		probably benign	Het
Hdac10	T	A	15: 89,008,143 (GRCm39)	Q569L	possibly damaging	Het
Icos	A	G	1: 61,032,941 (GRCm39)	T47A	possibly damaging	Het
Igfn1	T	A	1: 135,882,404 (GRCm39)	I2814F	probably damaging	Het
Kif27	A	G	13: 58,440,957 (GRCm39)	S1153P	probably damaging	Het
Lin28a	A	C	4: 133,746,028 (GRCm39)	F9V	possibly damaging	Het
Lrriq3	T	A	3: 154,893,695 (GRCm39)	N465K	probably benign	Het
Lsm14a	T	C	7: 34,074,799 (GRCm39)	E47G	probably damaging	Het
Mmel1	A	G	4: 154,969,967 (GRCm39)	K177R	probably benign	Het
Ncstn	T	A	1: 171,899,087 (GRCm39)	N348I	possibly damaging	Het
Ninl	A	G	2: 150,795,284 (GRCm39)	I619T	probably damaging	Het
Npb	T	C	11: 120,499,401 (GRCm39)	Y23H	probably damaging	Het
Npepps	A	G	11: 97,096,933 (GRCm39)		probably benign	Het
Or8k30	T	C	2: 86,339,699 (GRCm39)	Y299H	probably benign	Het
Otop1	G	A	5: 38,451,892 (GRCm39)		probably null	Het
Pcdha1	T	C	18: 37,065,469 (GRCm39)	L711P	probably damaging	Het
Pcyt1a	A	G	16: 32,270,660 (GRCm39)		probably benign	Het
Pdpr	G	T	8: 111,841,400 (GRCm39)	V211F	probably damaging	Het
Pip4k2b	T	C	11: 97,613,261 (GRCm39)	N245S	possibly damaging	Het
Platr26	G	A	2: 71,561,214 (GRCm39)		noncoding transcript	Het
Plek	A	G	11: 16,933,194 (GRCm39)		probably null	Het
Potefam3c	G	C	8: 69,906,010 (GRCm39)	N13K	probably benign	Het
Prr29	T	G	11: 106,267,779 (GRCm39)	C175G	probably benign	Het
Ptpru	A	G	4: 131,504,196 (GRCm39)	V1097A	probably damaging	Het
Ramp2	T	A	11: 101,138,247 (GRCm39)		probably benign	Het
Rap1gap	A	G	4: 137,455,595 (GRCm39)	D381G	possibly damaging	Het
Rbbp6	T	A	7: 122,589,549 (GRCm39)	D412E	probably benign	Het
Rgs4	C	T	1: 169,572,802 (GRCm39)	V45I	probably benign	Het
Ryr2	C	T	13: 11,658,781 (GRCm39)	R3614Q	probably damaging	Het
Shc3	G	A	13: 51,596,856 (GRCm39)		probably null	Het
Shmt2	A	T	10: 127,354,139 (GRCm39)	C412S	probably damaging	Het
Slc25a45	A	T	19: 5,934,945 (GRCm39)	N265Y	probably damaging	Het
Slc4a10	G	C	2: 62,074,783 (GRCm39)	E316Q	probably benign	Het
Slc5a8	T	C	10: 88,743,919 (GRCm39)		probably null	Het
Snx31	A	G	15: 36,539,513 (GRCm39)	V121A	probably damaging	Het
Socs3	T	C	11: 117,858,542 (GRCm39)	E172G	probably damaging	Het
Tg	A	G	15: 66,545,899 (GRCm39)	D207G	probably damaging	Het
Them4	G	T	3: 94,237,088 (GRCm39)	V183F	probably damaging	Het
Tkt	G	A	14: 30,287,499 (GRCm39)	W136*	probably null	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tmc3	C	A	7: 83,271,529 (GRCm39)	R894S	probably benign	Het
Tmem132a	G	T	19: 10,836,305 (GRCm39)	P742T	probably benign	Het
Tmem202	A	G	9: 59,432,129 (GRCm39)	L66P	probably damaging	Het
Trbc1	G	A	6: 41,516,270 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,511 (GRCm39)	F158L	probably benign	Het
Ttc13	A	T	8: 125,406,795 (GRCm39)	N595K	probably damaging	Het
Ucp1	A	G	8: 84,024,484 (GRCm39)		probably null	Het
Zbtb4	C	T	11: 69,669,497 (GRCm39)	T740I	probably benign	Het
Zfp69	A	T	4: 120,804,522 (GRCm39)	D116E	possibly damaging	Het
Zfp879	A	G	11: 50,728,796 (GRCm39)	L66S	probably damaging	Het
Zfp955b	T	A	17: 33,524,125 (GRCm39)		probably benign	Het
Zfyve1	T	C	12: 83,594,839 (GRCm39)	I718V	possibly damaging	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
R1605:Prdm15	UTSW	16	97,640,506 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGCTCACTGAGTTGGTTCC -3'
(R):5'- ATTATGGCCTCTAGCGGGAG -3'

Sequencing Primer
(F):5'- TCCCCAAGGGTGTGATGGAG -3'
(R):5'- CTCCTTGTGACTCTTACAGGTGG -3'

Posted On

2016-06-06