Mutagenetix > Incidental Mutation

Incidental Mutation 'R8127:Prdm15'

631829

Institutional Source

Beutler Lab

Gene Symbol

Prdm15

Ensembl Gene

ENSMUSG00000014039

Gene Name

PR domain containing 15

Synonyms

Zfp298, E130018M06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97791467-97851850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97837710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 50 (N50S)

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: N76S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: N76S

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: N50S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113002
Gene: ENSMUSG00000014039
AA Change: N50S

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: N50S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: N50S

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
AA Change: N76S

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000142295
AA Change: N50S

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

SMART Domains

Protein: ENSMUSP00000120497
Gene: ENSMUSG00000014039
AA Change: N50S

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: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 145,043,439	M66T	possibly damaging	Het
Acvr1	A	T	2: 58,477,626	N174K	probably benign	Het
Ago1	A	T	4: 126,454,421	C342S	possibly damaging	Het
Anapc1	A	G	2: 128,632,627	S1423P	probably damaging	Het
Antxr2	A	T	5: 97,980,017	C218*	probably null	Het
Arsa	A	G	15: 89,474,864	Y200H	probably damaging	Het
Atad3a	C	T	4: 155,753,939	R207Q	probably damaging	Het
Carmil3	A	G	14: 55,498,244	D551G	probably damaging	Het
Cdk9	A	G	2: 32,707,997	I349T	probably benign	Het
Cmya5	A	T	13: 93,094,614	V1322E	probably damaging	Het
Col4a3	T	A	1: 82,649,760	I95K	unknown	Het
Dab2ip	T	C	2: 35,644,126		probably benign	Het
Dok7	A	G	5: 35,087,001	S530G	probably benign	Het
Dst	C	T	1: 34,178,229	T1250M	probably damaging	Het
Dzank1	A	C	2: 144,488,816	W439G	probably damaging	Het
Evx1	T	A	6: 52,313,917	S25T	possibly damaging	Het
Fut10	G	A	8: 31,194,971		probably benign	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Hyal5	C	A	6: 24,891,488	R434S	probably benign	Het
Lrrc43	C	T	5: 123,492,271	P66S	probably damaging	Het
Mib1	T	A	18: 10,741,031	I93N	probably damaging	Het
Mug2	G	A	6: 122,075,608	E1038K	probably benign	Het
Nsd2	T	A	5: 33,885,490	C1033S	probably damaging	Het
Olfr424	C	T	1: 174,137,589	P282S	probably damaging	Het
Olfr985	T	A	9: 40,127,064	H299L	probably benign	Het
Otogl	A	T	10: 107,895,752	F176Y	probably damaging	Het
Pih1d3	T	C	1: 31,223,120	F61S	probably benign	Het
Polr3b	A	G	10: 84,679,789	K609E	probably benign	Het
Rlf	G	T	4: 121,147,896	Q1406K	possibly damaging	Het
Rusc2	T	C	4: 43,423,747	V1023A	possibly damaging	Het
Scn11a	C	T	9: 119,804,512	G385D	probably damaging	Het
Slc44a1	T	C	4: 53,528,714	S155P	probably benign	Het
Spam1	T	A	6: 24,796,971	V307D	possibly damaging	Het
Srgap1	A	C	10: 121,855,366	M321R	probably null	Het
Stam	A	G	2: 14,117,473	I128V	probably damaging	Het
Sytl2	A	G	7: 90,375,590	D262G	possibly damaging	Het
Taf2	G	A	15: 55,059,988	R298C	probably damaging	Het
Tcl1b5	A	T	12: 105,180,003	T112S	probably benign	Het
Trim33	T	C	3: 103,331,727	S674P	possibly damaging	Het
Trip12	T	C	1: 84,738,742	N1602S	probably damaging	Het
Vmn1r44	T	C	6: 89,893,863	I197T	probably benign	Het
Wdtc1	C	T	4: 133,302,382		probably null	Het
Zfp583	G	T	7: 6,323,822		probably null	Het
Zfyve16	T	A	13: 92,505,677	I1213F	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
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
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'- CATGCAGCCCCAGATTCTGAAG -3'
(R):5'- TCCCTTAGTCTATGGGCTCTGG -3'

Sequencing Primer
(F):5'- CCCAGATTCTGAAGGGGCTCTAAAG -3'
(R):5'- TATGGGCTCTGGGTCCTCAC -3'

Posted On

2020-06-30