Mutagenetix > Incidental Mutations

Incidental Mutation 'R8048:Prdm16'

618867

Institutional Source

Beutler Lab

Gene Symbol

Prdm16

Ensembl Gene

ENSMUSG00000039410

Gene Name

PR domain containing 16

Synonyms

Mel1, 5730557K01Rik, csp1, line 27

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.764) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154316125-154636873 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154320882 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1245 (L1245P)

Ref Sequence

ENSEMBL: ENSMUSP00000030902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030902] [ENSMUST00000070313] [ENSMUST00000097759] [ENSMUST00000105636] [ENSMUST00000105637] [ENSMUST00000105638]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030902
AA Change: L1245P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030902
Gene: ENSMUSG00000039410
AA Change: L1245P

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	217	8.75e-5	SMART
ZnF_C2H2	230	250	2.82e1	SMART
low complexity region	260	274	N/A	INTRINSIC
ZnF_C2H2	282	304	1.04e-3	SMART
ZnF_C2H2	310	332	1.6e-4	SMART
ZnF_C2H2	338	361	3.95e-4	SMART
ZnF_C2H2	367	389	1.95e-3	SMART
ZnF_C2H2	395	417	8.22e-2	SMART
ZnF_C2H2	424	451	9.96e0	SMART
low complexity region	496	517	N/A	INTRINSIC
low complexity region	520	540	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
ZnF_C2H2	951	973	5.29e-5	SMART
ZnF_C2H2	979	1002	1.6e-4	SMART
ZnF_C2H2	1008	1030	7.26e-3	SMART
low complexity region	1116	1132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070313

SMART Domains

Protein: ENSMUSP00000064546
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	218	8.75e-5	SMART
ZnF_C2H2	231	251	2.82e1	SMART
low complexity region	261	275	N/A	INTRINSIC
ZnF_C2H2	283	305	1.04e-3	SMART
ZnF_C2H2	311	333	1.6e-4	SMART
ZnF_C2H2	339	362	3.95e-4	SMART
ZnF_C2H2	368	390	1.95e-3	SMART
ZnF_C2H2	396	418	8.22e-2	SMART
ZnF_C2H2	425	452	9.96e0	SMART
low complexity region	497	518	N/A	INTRINSIC
low complexity region	521	541	N/A	INTRINSIC
low complexity region	611	642	N/A	INTRINSIC
ZnF_C2H2	953	975	5.29e-5	SMART
ZnF_C2H2	981	1004	1.6e-4	SMART
ZnF_C2H2	1010	1032	7.26e-3	SMART
low complexity region	1118	1134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097759

SMART Domains

Protein: ENSMUSP00000095365
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	217	8.75e-5	SMART
ZnF_C2H2	230	250	2.82e1	SMART
low complexity region	260	274	N/A	INTRINSIC
ZnF_C2H2	282	304	1.04e-3	SMART
ZnF_C2H2	310	332	1.6e-4	SMART
ZnF_C2H2	338	361	3.95e-4	SMART
ZnF_C2H2	367	389	1.95e-3	SMART
ZnF_C2H2	395	417	8.22e-2	SMART
ZnF_C2H2	424	451	9.96e0	SMART
low complexity region	496	517	N/A	INTRINSIC
low complexity region	520	540	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
ZnF_C2H2	952	974	5.29e-5	SMART
ZnF_C2H2	980	1003	1.6e-4	SMART
ZnF_C2H2	1009	1031	7.26e-3	SMART
low complexity region	1117	1133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105636

SMART Domains

Protein: ENSMUSP00000101261
Gene: ENSMUSG00000039410

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	218	8.75e-5	SMART
ZnF_C2H2	231	251	2.82e1	SMART
low complexity region	261	275	N/A	INTRINSIC
ZnF_C2H2	283	305	1.04e-3	SMART
ZnF_C2H2	311	333	1.6e-4	SMART
ZnF_C2H2	339	362	3.95e-4	SMART
ZnF_C2H2	368	390	1.95e-3	SMART
ZnF_C2H2	396	418	8.22e-2	SMART
ZnF_C2H2	425	452	9.96e0	SMART
low complexity region	497	518	N/A	INTRINSIC
low complexity region	521	541	N/A	INTRINSIC
low complexity region	611	642	N/A	INTRINSIC
ZnF_C2H2	952	974	5.29e-5	SMART
ZnF_C2H2	980	1003	1.6e-4	SMART
ZnF_C2H2	1009	1031	7.26e-3	SMART
low complexity region	1117	1133	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105637
AA Change: L1244P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101262
Gene: ENSMUSG00000039410
AA Change: L1244P

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	216	8.75e-5	SMART
ZnF_C2H2	229	249	2.82e1	SMART
low complexity region	259	273	N/A	INTRINSIC
ZnF_C2H2	281	303	1.04e-3	SMART
ZnF_C2H2	309	331	1.6e-4	SMART
ZnF_C2H2	337	360	3.95e-4	SMART
ZnF_C2H2	366	388	1.95e-3	SMART
ZnF_C2H2	394	416	8.22e-2	SMART
ZnF_C2H2	423	450	9.96e0	SMART
low complexity region	495	516	N/A	INTRINSIC
low complexity region	519	539	N/A	INTRINSIC
low complexity region	609	640	N/A	INTRINSIC
ZnF_C2H2	950	972	5.29e-5	SMART
ZnF_C2H2	978	1001	1.6e-4	SMART
ZnF_C2H2	1007	1029	7.26e-3	SMART
low complexity region	1115	1131	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105638
AA Change: L1246P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101263
Gene: ENSMUSG00000039410
AA Change: L1246P

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	74	83	N/A	INTRINSIC
SET	84	217	8.75e-5	SMART
ZnF_C2H2	230	250	2.82e1	SMART
low complexity region	260	274	N/A	INTRINSIC
ZnF_C2H2	282	304	1.04e-3	SMART
ZnF_C2H2	310	332	1.6e-4	SMART
ZnF_C2H2	338	361	3.95e-4	SMART
ZnF_C2H2	367	389	1.95e-3	SMART
ZnF_C2H2	395	417	8.22e-2	SMART
ZnF_C2H2	424	451	9.96e0	SMART
low complexity region	496	517	N/A	INTRINSIC
low complexity region	520	540	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
ZnF_C2H2	952	974	5.29e-5	SMART
ZnF_C2H2	980	1003	1.6e-4	SMART
ZnF_C2H2	1009	1031	7.26e-3	SMART
low complexity region	1117	1133	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice exhibit a cleft secondary palate, whitening of brown adipose tissue in older or fed a high-fat diet, and impaired adaptive thermogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,410,844	L318F	probably damaging	Het
Alms1	T	A	6: 85,641,334	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883	T443I	probably benign	Het
Arhgap29	C	T	3: 121,992,901	R372W	probably damaging	Het
Astn1	T	C	1: 158,688,638	I1266T	probably benign	Het
Bsg	T	C	10: 79,709,746	V164A	probably benign	Het
C1qa	G	T	4: 136,896,610	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,863	V92A	probably benign	Het
Ccdc187	T	A	2: 26,293,514	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,263,210	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,622,172	A285V	probably null	Het
Dsg1c	A	T	18: 20,274,767	K390M	probably damaging	Het
Dst	T	C	1: 34,190,636	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,649,758		probably null	Het
Fez2	T	C	17: 78,387,053	I303V	probably benign	Het
Ffar1	A	T	7: 30,860,578	I298N	probably benign	Het
Hpx	C	T	7: 105,595,478	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,121,802	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903	D99G	probably benign	Het
Ivl	T	A	3: 92,571,924	K278M	probably damaging	Het
Lyst	A	G	13: 13,687,645	T2589A	probably benign	Het
Madd	A	T	2: 91,154,448	M1359K	probably damaging	Het
Nav3	T	C	10: 109,764,918	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,179,698	C439*	probably null	Het
Nebl	T	C	2: 17,424,522	D266G	probably benign	Het
Oas1f	G	T	5: 120,847,537	G49V	probably damaging	Het
Oas1f	A	T	5: 120,848,416	Q144L	possibly damaging	Het
Olfr1032	T	G	2: 86,008,180	S135A	probably damaging	Het
Olfr1052	C	T	2: 86,298,328	P171S	probably benign	Het
Olfr1062	T	A	2: 86,423,307	Y123F	probably damaging	Het
Olfr134	T	C	17: 38,175,528	V148A	probably benign	Het
Olfr141	T	A	2: 86,806,171	Y276F	probably damaging	Het
Olfr1440	A	G	19: 12,394,355	I31V	not run	Het
Olfr324	A	G	11: 58,597,407	I6V	unknown	Het
Olfr711	C	T	7: 106,972,464		probably benign	Het
Olfr740	T	C	14: 50,453,916	L288P	possibly damaging	Het
Olfr917	C	T	9: 38,665,812	E11K	probably benign	Het
Pard3b	T	A	1: 62,153,989	V217E	probably damaging	Het
Pcdha2	T	A	18: 36,939,460	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,303,127	F1248L		Het
Plekha2	A	T	8: 25,063,989		probably benign	Het
Plpp4	C	T	7: 129,379,477	R151C	unknown	Het
Pramef17	T	A	4: 143,991,607	Y422F	probably benign	Het
Prob1	G	A	18: 35,653,551	A550V	probably benign	Het
Prok1	T	C	3: 107,237,092	H65R	probably benign	Het
Ptcd1	A	G	5: 145,155,077	V404A	probably benign	Het
Sbf2	T	C	7: 110,315,082	E1631G	probably benign	Het
Sdad1	C	A	5: 92,300,089	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,910,072	A547S	probably benign	Het
Sptb	T	C	12: 76,628,559	D227G	probably benign	Het
Tbx1	A	G	16: 18,588,019	M1T	probably null	Het
Tespa1	T	A	10: 130,347,339	V51D	probably damaging	Het
Tmc7	T	C	7: 118,566,245	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,121,559	T23S	probably damaging	Het
Trib3	A	T	2: 152,338,633	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,183,500	V178A	probably benign	Het
Virma	T	A	4: 11,539,918	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,471,500	T254A	probably benign	Het
Vps13d	A	G	4: 145,155,567	V1152A		Het
Wdr47	T	C	3: 108,618,968	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,324,537	D676E	unknown	Het
Zc3h6	T	A	2: 129,017,014	S988R	probably benign	Het

Other mutations in Prdm16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Prdm16	APN	4	154341969	missense	possibly damaging	0.89
IGL01517:Prdm16	APN	4	154328425	missense	probably damaging	1.00
IGL01810:Prdm16	APN	4	154347927	missense	probably benign	0.10
IGL02260:Prdm16	APN	4	154328287	missense	probably benign	0.00
IGL02623:Prdm16	APN	4	154340877	missense	probably damaging	0.98
IGL02744:Prdm16	APN	4	154345453	missense	probably damaging	1.00
R0126:Prdm16	UTSW	4	154328838	splice site	probably benign
R0345:Prdm16	UTSW	4	154341111	missense	probably benign	0.09
R0365:Prdm16	UTSW	4	154342056	missense	probably damaging	1.00
R0440:Prdm16	UTSW	4	154476627	splice site	probably benign
R0899:Prdm16	UTSW	4	154528909	missense	probably damaging	1.00
R1127:Prdm16	UTSW	4	154528799	missense	probably damaging	1.00
R1546:Prdm16	UTSW	4	154528660	missense	possibly damaging	0.94
R1803:Prdm16	UTSW	4	154335261	missense	probably damaging	1.00
R2117:Prdm16	UTSW	4	154347925	missense	probably null	0.99
R3814:Prdm16	UTSW	4	154328293	missense	probably damaging	1.00
R4348:Prdm16	UTSW	4	154476667	missense	probably benign	0.00
R4458:Prdm16	UTSW	4	154322308	missense	probably benign
R4557:Prdm16	UTSW	4	154528827	missense	probably benign	0.01
R4581:Prdm16	UTSW	4	154323353	missense	probably damaging	1.00
R4584:Prdm16	UTSW	4	154337683	missense	probably damaging	1.00
R4627:Prdm16	UTSW	4	154367240	missense	probably damaging	1.00
R4926:Prdm16	UTSW	4	154341552	missense	possibly damaging	0.74
R5055:Prdm16	UTSW	4	154335262	missense	possibly damaging	0.48
R5152:Prdm16	UTSW	4	154346102	missense	probably damaging	0.99
R5257:Prdm16	UTSW	4	154367214	missense	possibly damaging	0.89
R5258:Prdm16	UTSW	4	154367214	missense	possibly damaging	0.89
R5368:Prdm16	UTSW	4	154345391	missense	probably damaging	1.00
R5464:Prdm16	UTSW	4	154346144	critical splice acceptor site	probably null
R5640:Prdm16	UTSW	4	154341910	missense	probably benign
R5744:Prdm16	UTSW	4	154528704	missense	probably damaging	1.00
R5892:Prdm16	UTSW	4	154323259	missense	possibly damaging	0.74
R5938:Prdm16	UTSW	4	154347954	missense	probably damaging	0.99
R6380:Prdm16	UTSW	4	154341367	missense	probably benign	0.00
R6784:Prdm16	UTSW	4	154323307	missense	probably damaging	1.00
R7097:Prdm16	UTSW	4	154345468	missense	probably damaging	1.00
R7181:Prdm16	UTSW	4	154528637	missense	probably damaging	1.00
R7197:Prdm16	UTSW	4	154341510	missense	probably damaging	1.00
R7273:Prdm16	UTSW	4	154345453	missense	probably damaging	1.00
R7379:Prdm16	UTSW	4	154528859	missense	probably damaging	1.00
R7641:Prdm16	UTSW	4	154345444	missense	probably damaging	1.00
R7704:Prdm16	UTSW	4	154341490	missense	probably damaging	1.00
R7751:Prdm16	UTSW	4	154328299	missense	probably damaging	1.00
R8225:Prdm16	UTSW	4	154355245	critical splice donor site	probably null
R8503:Prdm16	UTSW	4	154341552	missense	probably benign	0.04
R8683:Prdm16	UTSW	4	154528704	missense	probably damaging	1.00
RF008:Prdm16	UTSW	4	154341995	missense	probably damaging	1.00
X0010:Prdm16	UTSW	4	154323377	missense	probably damaging	1.00
Z1176:Prdm16	UTSW	4	154341786	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGAGAAGCTGGACTTTGC -3'
(R):5'- AGTCTGAGCCTCTCTAATGCC -3'

Sequencing Primer
(F):5'- ACTTTGCAAAGTGGAGGTGTTGAG -3'
(R):5'- CTCTTTCTCTATCTAGACTGGGTGG -3'

Posted On

2020-01-23