Mutagenetix > Incidental Mutation

Incidental Mutation 'R8053:Prdm15'

619219

Institutional Source

Beutler Lab

Gene Symbol

Prdm15

Ensembl Gene

ENSMUSG00000014039

Gene Name

PR domain containing 15

Synonyms

Zfp298, E130018M06Rik

MMRRC Submission

067490-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97592667-97653050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97636807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 170 (M170T)

Ref Sequence

ENSEMBL: ENSMUSP00000113791 (fasta)

Gene Model

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

AlphaFold

E9Q8T2

Predicted Effect

probably benign
Transcript: ENSMUST00000095849
AA Change: M196T

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: M196T

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

SMART Domains

Protein: ENSMUSP00000113002
Gene: ENSMUSG00000014039

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121584
AA Change: M170T

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: M170T

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: ENSMUST00000135505

Predicted Effect

probably benign
Transcript: ENSMUST00000142295
AA Change: M170T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120497
Gene: ENSMUSG00000014039
AA Change: M170T

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	T	12: 18,583,728 (GRCm39)	R263*	probably null	Het
Abca12	G	A	1: 71,388,328 (GRCm39)	R181*	probably null	Het
Adar	T	C	3: 89,654,592 (GRCm39)	L908P	probably damaging	Het
Ankrd55	C	T	13: 112,459,687 (GRCm39)	R94C	probably damaging	Het
Aopep	A	T	13: 63,338,345 (GRCm39)	K574*	probably null	Het
Carf	A	T	1: 60,167,197 (GRCm39)	T177S	probably benign	Het
Ccdc162	C	A	10: 41,520,577 (GRCm39)	G693V	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chd4	G	T	6: 125,105,779 (GRCm39)	E1799*	probably null	Het
Chrna3	T	A	9: 54,922,674 (GRCm39)	N378I	probably benign	Het
Clec4a2	T	C	6: 123,104,998 (GRCm39)	V96A	probably benign	Het
Cntnap5b	T	A	1: 100,318,402 (GRCm39)	L683Q	probably damaging	Het
Crisp4	T	A	1: 18,194,498 (GRCm39)	Q208L	probably benign	Het
Crocc	A	G	4: 140,770,230 (GRCm39)		probably null	Het
Cyp2ab1	T	C	16: 20,133,018 (GRCm39)	E192G	probably benign	Het
Cyrib	T	C	15: 63,813,832 (GRCm39)	D155G	probably damaging	Het
Daglb	A	G	5: 143,489,024 (GRCm39)	K627R	probably benign	Het
Desi2	G	A	1: 178,065,482 (GRCm39)	W16*	probably null	Het
Dtx3l	T	C	16: 35,759,322 (GRCm39)		probably benign	Het
Elf2	A	G	3: 51,215,551 (GRCm39)	V53A	possibly damaging	Het
Eomes	A	G	9: 118,309,621 (GRCm39)	D325G	probably damaging	Het
Etl4	A	T	2: 20,666,774 (GRCm39)	L60F	probably damaging	Het
Exoc4	A	G	6: 33,309,191 (GRCm39)	D271G	probably benign	Het
F5	A	G	1: 164,020,338 (GRCm39)	I938V	probably benign	Het
Fdxr	T	A	11: 115,160,665 (GRCm39)	K290M	probably benign	Het
Fgd5	G	A	6: 91,966,425 (GRCm39)	S886N	probably benign	Het
Gm11595	G	A	11: 99,662,954 (GRCm39)	S242F	unknown	Het
Gm14322	A	T	2: 177,411,424 (GRCm39)	Q78L	probably damaging	Het
Gm8267	A	T	14: 44,962,307 (GRCm39)	S38T	possibly damaging	Het
Gpr75	A	T	11: 30,841,559 (GRCm39)	T155S	probably benign	Het
Hectd3	T	C	4: 116,858,055 (GRCm39)	S628P	possibly damaging	Het
Hrh2	A	G	13: 54,368,104 (GRCm39)	T27A	probably benign	Het
Kif16b	G	A	2: 142,695,634 (GRCm39)	R157C	probably damaging	Het
Krt16	T	C	11: 100,137,613 (GRCm39)	Y364C	probably damaging	Het
Lrrc37	T	A	11: 103,495,392 (GRCm39)	K2809I	unknown	Het
Map2k5	T	A	9: 63,250,707 (GRCm39)	N95I	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mthfd1	T	A	12: 76,327,282 (GRCm39)	D123E	probably damaging	Het
Muc2	A	T	7: 141,284,575 (GRCm39)	Y827F	probably benign	Het
Myh15	T	A	16: 48,963,302 (GRCm39)	M1081K	possibly damaging	Het
Nbeal1	A	G	1: 60,318,954 (GRCm39)	T1998A	probably damaging	Het
Neb	T	A	2: 52,176,029 (GRCm39)	T1477S	possibly damaging	Het
Nox4	C	A	7: 87,019,255 (GRCm39)	P416Q	probably damaging	Het
Or10ak7	A	G	4: 118,791,308 (GRCm39)	S246P	probably damaging	Het
Or1e31	T	C	11: 73,689,822 (GRCm39)	T254A	probably benign	Het
Or2j3	A	T	17: 38,616,101 (GRCm39)	F84I	probably benign	Het
Or4c123	A	T	2: 89,127,540 (GRCm39)	F25I	possibly damaging	Het
Or5g23	T	C	2: 85,439,234 (GRCm39)	T7A	probably damaging	Het
Pcdhga4	A	G	18: 37,819,308 (GRCm39)	K286E	probably benign	Het
Pde10a	A	G	17: 9,193,604 (GRCm39)	T679A	probably benign	Het
Phc2	C	T	4: 128,603,433 (GRCm39)	Q188*	probably null	Het
Pramel12	C	A	4: 143,144,208 (GRCm39)	Q185K	probably benign	Het
Rab20	G	T	8: 11,504,443 (GRCm39)	Q86K	probably damaging	Het
Rev1	T	C	1: 38,102,222 (GRCm39)	I714V	possibly damaging	Het
Rexo2	A	G	9: 48,386,418 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,293,473 (GRCm39)	K75E		Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sema3c	C	T	5: 17,860,020 (GRCm39)	T95I	probably benign	Het
Sh3rf2	T	A	18: 42,286,087 (GRCm39)	S527T	probably damaging	Het
Sis	A	T	3: 72,856,901 (GRCm39)	Y434*	probably null	Het
Slc16a6	G	A	11: 109,349,395 (GRCm39)	T222I	probably damaging	Het
Smad6	A	G	9: 63,927,789 (GRCm39)	L173P	probably damaging	Het
Sugct	T	A	13: 17,476,554 (GRCm39)	N310I	probably damaging	Het
Syne1	T	A	10: 5,002,658 (GRCm39)	K259*	probably null	Het
Taar6	A	G	10: 23,861,144 (GRCm39)	V134A	possibly damaging	Het
Tmem199	A	G	11: 78,398,612 (GRCm39)	I184T	possibly damaging	Het
Tnrc18	G	T	5: 142,736,385 (GRCm39)	D1530E	unknown	Het
Tnxb	G	A	17: 34,923,153 (GRCm39)	V2579M	probably damaging	Het
Vangl2	A	G	1: 171,832,303 (GRCm39)	F518L	probably damaging	Het
Vmn2r40	T	C	7: 8,911,245 (GRCm39)	T683A		Het
Wapl	C	T	14: 34,414,278 (GRCm39)	T380I	probably damaging	Het
Zfp874b	A	T	13: 67,622,217 (GRCm39)	H360Q	probably 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
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
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'- AAGGGTCCCAAGATCTGGTG -3'
(R):5'- CATCCTGTGTGCTTCGACAC -3'

Sequencing Primer
(F):5'- CAAGATCTGGTGAGCACTGTC -3'
(R):5'- GTGCTTCGACACTTCCAATGAGG -3'

Posted On

2020-01-23