Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Prdm15'

636287

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 #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97791467-97851850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97807060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 679 (H679L)

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: H705L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093533
Gene: ENSMUSG00000014039
AA Change: H705L

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: H679L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113791
Gene: ENSMUSG00000014039
AA Change: H679L

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: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,919,756	Y277C	probably damaging	Het
Acss1	T	A	2: 150,619,710	D651V	possibly damaging	Het
Aktip	G	T	8: 91,124,866	P243H	possibly damaging	Het
Arl11	T	G	14: 61,311,265	S175A	probably benign	Het
Aup1	A	G	6: 83,054,607		probably benign	Het
Avil	A	T	10: 127,008,321	I250F	probably damaging	Het
Btnl6	A	T	17: 34,508,883		probably null	Het
C77080	A	T	4: 129,221,459	V1070D	possibly damaging	Het
Ccdc7b	C	A	8: 129,178,291	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,639,881	E319K	unknown	Het
Chka	A	C	19: 3,885,882	E196A	probably damaging	Het
Depdc5	C	T	5: 32,937,637	R753C	probably damaging	Het
Dhx57	T	A	17: 80,275,156	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,702,693	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,207,133	L164M	probably benign	Het
Dock6	A	G	9: 21,831,444	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,116,071	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783	S226T	probably benign	Het
Fgd6	A	T	10: 94,044,052	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113	Y218*	probably null	Het
Filip1	C	A	9: 79,818,092	A1082S	probably benign	Het
Gm13088	T	A	4: 143,654,185	M423L	probably benign	Het
Gm13128	A	T	4: 144,330,460	D71V	probably benign	Het
Heatr5a	G	A	12: 51,891,443	T1484M	probably damaging	Het
Herc1	G	T	9: 66,450,888	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,317,175		probably benign	Het
Igsf5	A	T	16: 96,372,988	I73F	probably damaging	Het
Il17ra	T	C	6: 120,473,034	V91A	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,566,356	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,444,721	Y353N	probably damaging	Het
Nepn	A	T	10: 52,391,759	E40D	probably benign	Het
Npat	G	T	9: 53,570,570	E1193*	probably null	Het
Nrde2	G	A	12: 100,131,003	S846L	probably benign	Het
Nup205	T	C	6: 35,225,203	V1290A	probably benign	Het
Olfr1009	T	A	2: 85,721,501	L32Q	probably null	Het
Olfr1424	A	G	19: 12,059,092	V220A	probably benign	Het
Olfr517	C	A	7: 108,868,519	V212L	probably benign	Het
Pde6a	A	T	18: 61,220,696	K31M	possibly damaging	Het
Pms2	C	T	5: 143,914,771	R169C	probably damaging	Het
Polr2g	A	T	19: 8,798,257	L30Q	probably damaging	Het
Prl4a1	T	G	13: 28,023,386	Y214*	probably null	Het
Prlr	C	T	15: 10,329,242	T601M	possibly damaging	Het
Psen2	A	C	1: 180,245,691	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,722,914	R764L	probably damaging	Het
Scgb2b11	T	C	7: 32,209,408	E89G	probably damaging	Het
Serpina10	T	C	12: 103,628,277	I228V	probably benign	Het
Serpinb1a	T	A	13: 32,842,999	H320L	probably damaging	Het
Sesn2	C	A	4: 132,498,053	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,251,011	W1019R	probably damaging	Het
Sqle	A	G	15: 59,321,302		probably null	Het
Syt14	T	C	1: 192,986,829	M39V	probably benign	Het
Tgm7	A	G	2: 121,101,064	V206A	probably damaging	Het
Thbs4	T	C	13: 92,760,586		probably null	Het
Trpv1	T	C	11: 73,254,251	F721S	probably damaging	Het
Ttll10	A	T	4: 156,036,234	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,099,525	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,470,088	S494F	probably benign	Het
Vwa3b	C	T	1: 37,128,939	A603V	probably benign	Het
Xirp2	T	A	2: 67,476,866	N19K	probably damaging	Het
Zfp397	T	A	18: 23,960,722	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly 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
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'- ACGTGTACAGAAGGCTGGTG -3'
(R):5'- CATGAGTAGCTGACCCTCTTCG -3'

Sequencing Primer
(F):5'- TGTACAGAAGGCTGGTGCAGAG -3'
(R):5'- CTTCGGGTATCTAGCTGACACGAG -3'

Posted On

2020-07-13