Mutagenetix > Incidental Mutation

Incidental Mutation 'R0126:Prdm16'

21353

Institutional Source

Beutler Lab

Gene Symbol

Prdm16

Ensembl Gene

ENSMUSG00000039410

Gene Name

PR domain containing 16

Synonyms

line 27, Mel1, 5730557K01Rik, csp1

MMRRC Submission

038411-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R0126 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154400582-154721330 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 154413295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101263 (fasta)

Gene Model

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

AlphaFold

A2A935

Predicted Effect

probably benign
Transcript: ENSMUST00000030902

SMART Domains

Protein: ENSMUSP00000030902
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	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 benign
Transcript: ENSMUST00000105637

SMART Domains

Protein: ENSMUSP00000101262
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	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 benign
Transcript: ENSMUST00000105638

SMART Domains

Protein: ENSMUSP00000101263
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

noncoding transcript
Transcript: ENSMUST00000141164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145217

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,742 (GRCm39)	L1730P	possibly damaging	Het
Adam9	T	C	8: 25,460,753 (GRCm39)	N577S	probably damaging	Het
Add1	T	C	5: 34,770,923 (GRCm39)	Y316H	probably benign	Het
Agpat3	T	C	10: 78,113,890 (GRCm39)	D266G	probably null	Het
Aldh3a2	C	A	11: 61,115,384 (GRCm39)	Q524H	probably benign	Het
Alox12b	A	C	11: 69,058,297 (GRCm39)	S550R	probably benign	Het
Ano4	T	A	10: 88,788,154 (GRCm39)	I753F	possibly damaging	Het
AW011738	T	A	4: 156,288,104 (GRCm39)		probably benign	Het
B4galt3	C	T	1: 171,103,738 (GRCm39)	T103M	probably damaging	Het
Cabs1	C	T	5: 88,128,054 (GRCm39)	T235I	probably damaging	Het
Casq2	A	G	3: 102,040,715 (GRCm39)	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,584,031 (GRCm39)	M624L	probably benign	Het
Cdh5	A	C	8: 104,867,314 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,798,651 (GRCm39)		probably benign	Het
Cpne2	A	T	8: 95,281,561 (GRCm39)	I199F	probably damaging	Het
Crebbp	A	T	16: 3,901,927 (GRCm39)	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,454,499 (GRCm39)	C53R	probably damaging	Het
Degs1	T	C	1: 182,107,257 (GRCm39)	M1V	probably null	Het
Disp2	T	A	2: 118,620,819 (GRCm39)	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,465 (GRCm39)	D601G	probably benign	Het
Dnpep	G	A	1: 75,289,182 (GRCm39)	Q310*	probably null	Het
Dsg1a	A	G	18: 20,473,935 (GRCm39)	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,543,906 (GRCm39)		probably benign	Het
Foxh1	A	T	15: 76,553,454 (GRCm39)	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,339,597 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,736,565 (GRCm39)		probably benign	Het
Gp1ba	A	T	11: 70,531,859 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,945,218 (GRCm39)		probably benign	Het
Gucy2g	T	G	19: 55,229,598 (GRCm39)	D24A	probably benign	Het
Hirip3	A	G	7: 126,462,614 (GRCm39)	K190R	probably damaging	Het
Hmmr	T	C	11: 40,596,781 (GRCm39)	N717D	probably damaging	Het
Il12b	A	T	11: 44,301,045 (GRCm39)	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,388,070 (GRCm39)	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,055,105 (GRCm39)	L175P	probably damaging	Het
Klc2	T	C	19: 5,162,774 (GRCm39)	M242V	possibly damaging	Het
Klf3	T	C	5: 64,979,446 (GRCm39)	M96T	probably benign	Het
Lrrc66	G	T	5: 73,764,431 (GRCm39)	H871N	probably benign	Het
Ltn1	A	T	16: 87,222,528 (GRCm39)	D168E	probably benign	Het
Mak	T	C	13: 41,186,072 (GRCm39)	D532G	probably damaging	Het
Marchf6	A	G	15: 31,462,151 (GRCm39)	M859T	probably benign	Het
Meak7	T	C	8: 120,489,089 (GRCm39)	D398G	possibly damaging	Het
Mlxipl	C	A	5: 135,161,177 (GRCm39)	N365K	probably damaging	Het
Mplkip	T	C	13: 17,870,337 (GRCm39)	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,176,807 (GRCm39)	H584L	probably benign	Het
Myt1l	A	G	12: 29,901,719 (GRCm39)	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,686,592 (GRCm39)	Y139N	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51f2	A	G	7: 102,526,347 (GRCm39)	T7A	probably benign	Het
Or8k40	T	A	2: 86,584,981 (GRCm39)	I34L	probably damaging	Het
Pak6	C	T	2: 118,520,813 (GRCm39)	S268F	possibly damaging	Het
Parp10	G	A	15: 76,127,266 (GRCm39)	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,113,465 (GRCm39)	D69E	probably damaging	Het
Polr2a	T	G	11: 69,638,251 (GRCm39)	K105T	probably damaging	Het
Prepl	G	A	17: 85,390,670 (GRCm39)	T96I	probably benign	Het
Ret	C	T	6: 118,142,956 (GRCm39)		probably benign	Het
Rgl3	A	T	9: 21,887,108 (GRCm39)	D541E	probably benign	Het
Rpa1	A	C	11: 75,209,355 (GRCm39)	Y143D	probably benign	Het
Rps16	T	A	7: 28,050,508 (GRCm39)	L47Q	probably damaging	Het
Sbno2	A	T	10: 79,904,687 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,505,264 (GRCm39)	N385K	probably damaging	Het
Shank2	A	G	7: 143,585,092 (GRCm39)	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,865,791 (GRCm39)	C496F	possibly damaging	Het
Snap47	A	G	11: 59,328,813 (GRCm39)	V163A	probably damaging	Het
Sntg2	T	C	12: 30,251,260 (GRCm39)		probably benign	Het
Sp7	C	A	15: 102,266,895 (GRCm39)	V322F	probably damaging	Het
Spic	T	C	10: 88,511,924 (GRCm39)	K111E	probably damaging	Het
Sqor	T	C	2: 122,639,947 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,410 (GRCm39)	M385L	probably benign	Het
Synpo2	A	T	3: 122,873,511 (GRCm39)	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,045,797 (GRCm39)	V638E	probably damaging	Het
Taar1	T	A	10: 23,796,445 (GRCm39)	S48T	probably benign	Het
Tbx18	T	A	9: 87,611,706 (GRCm39)	D108V	possibly damaging	Het
Tdh	C	T	14: 63,735,042 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,881 (GRCm39)	L724Q	probably benign	Het
Tmem270	T	A	5: 134,931,642 (GRCm39)	Y100F	probably benign	Het
Trim65	G	C	11: 116,015,430 (GRCm39)		probably benign	Het
Trrap	A	T	5: 144,742,560 (GRCm39)	K1393*	probably null	Het
Ttc13	A	G	8: 125,410,030 (GRCm39)	V523A	probably damaging	Het
Utrn	T	A	10: 12,587,219 (GRCm39)	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,953,935 (GRCm39)	M261I	probably benign	Het
Vwa5a	A	G	9: 38,649,103 (GRCm39)		probably null	Het
Zfp108	A	T	7: 23,960,149 (GRCm39)	T247S	probably benign	Het
Zfp366	A	T	13: 99,365,129 (GRCm39)	I97F	probably benign	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het

Other mutations in Prdm16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Prdm16	APN	4	154,426,426 (GRCm39)	missense	possibly damaging	0.89
IGL01517:Prdm16	APN	4	154,412,882 (GRCm39)	missense	probably damaging	1.00
IGL01810:Prdm16	APN	4	154,432,384 (GRCm39)	missense	probably benign	0.10
IGL02260:Prdm16	APN	4	154,412,744 (GRCm39)	missense	probably benign	0.00
IGL02623:Prdm16	APN	4	154,425,334 (GRCm39)	missense	probably damaging	0.98
IGL02744:Prdm16	APN	4	154,429,910 (GRCm39)	missense	probably damaging	1.00
R0345:Prdm16	UTSW	4	154,425,568 (GRCm39)	missense	probably benign	0.09
R0365:Prdm16	UTSW	4	154,426,513 (GRCm39)	missense	probably damaging	1.00
R0440:Prdm16	UTSW	4	154,561,084 (GRCm39)	splice site	probably benign
R0899:Prdm16	UTSW	4	154,613,366 (GRCm39)	missense	probably damaging	1.00
R1127:Prdm16	UTSW	4	154,613,256 (GRCm39)	missense	probably damaging	1.00
R1546:Prdm16	UTSW	4	154,613,117 (GRCm39)	missense	possibly damaging	0.94
R1803:Prdm16	UTSW	4	154,419,718 (GRCm39)	missense	probably damaging	1.00
R2117:Prdm16	UTSW	4	154,432,382 (GRCm39)	missense	probably null	0.99
R3814:Prdm16	UTSW	4	154,412,750 (GRCm39)	missense	probably damaging	1.00
R4348:Prdm16	UTSW	4	154,561,124 (GRCm39)	missense	probably benign	0.00
R4458:Prdm16	UTSW	4	154,406,765 (GRCm39)	missense	probably benign
R4557:Prdm16	UTSW	4	154,613,284 (GRCm39)	missense	probably benign	0.01
R4581:Prdm16	UTSW	4	154,407,810 (GRCm39)	missense	probably damaging	1.00
R4584:Prdm16	UTSW	4	154,422,140 (GRCm39)	missense	probably damaging	1.00
R4627:Prdm16	UTSW	4	154,451,697 (GRCm39)	missense	probably damaging	1.00
R4926:Prdm16	UTSW	4	154,426,009 (GRCm39)	missense	possibly damaging	0.74
R5055:Prdm16	UTSW	4	154,419,719 (GRCm39)	missense	possibly damaging	0.48
R5152:Prdm16	UTSW	4	154,430,559 (GRCm39)	missense	probably damaging	0.99
R5257:Prdm16	UTSW	4	154,451,671 (GRCm39)	missense	possibly damaging	0.89
R5258:Prdm16	UTSW	4	154,451,671 (GRCm39)	missense	possibly damaging	0.89
R5368:Prdm16	UTSW	4	154,429,848 (GRCm39)	missense	probably damaging	1.00
R5464:Prdm16	UTSW	4	154,430,601 (GRCm39)	critical splice acceptor site	probably null
R5640:Prdm16	UTSW	4	154,426,367 (GRCm39)	missense	probably benign
R5744:Prdm16	UTSW	4	154,613,161 (GRCm39)	missense	probably damaging	1.00
R5892:Prdm16	UTSW	4	154,407,716 (GRCm39)	missense	possibly damaging	0.74
R5938:Prdm16	UTSW	4	154,432,411 (GRCm39)	missense	probably damaging	0.99
R6380:Prdm16	UTSW	4	154,425,824 (GRCm39)	missense	probably benign	0.00
R6784:Prdm16	UTSW	4	154,407,764 (GRCm39)	missense	probably damaging	1.00
R7097:Prdm16	UTSW	4	154,429,925 (GRCm39)	missense	probably damaging	1.00
R7181:Prdm16	UTSW	4	154,613,094 (GRCm39)	missense	probably damaging	1.00
R7197:Prdm16	UTSW	4	154,425,967 (GRCm39)	missense	probably damaging	1.00
R7273:Prdm16	UTSW	4	154,429,910 (GRCm39)	missense	probably damaging	1.00
R7379:Prdm16	UTSW	4	154,613,316 (GRCm39)	missense	probably damaging	1.00
R7641:Prdm16	UTSW	4	154,429,901 (GRCm39)	missense	probably damaging	1.00
R7704:Prdm16	UTSW	4	154,425,947 (GRCm39)	missense	probably damaging	1.00
R7751:Prdm16	UTSW	4	154,412,756 (GRCm39)	missense	probably damaging	1.00
R8048:Prdm16	UTSW	4	154,405,339 (GRCm39)	missense	probably damaging	1.00
R8225:Prdm16	UTSW	4	154,439,702 (GRCm39)	critical splice donor site	probably null
R8503:Prdm16	UTSW	4	154,426,009 (GRCm39)	missense	probably benign	0.04
R8683:Prdm16	UTSW	4	154,613,161 (GRCm39)	missense	probably damaging	1.00
R8880:Prdm16	UTSW	4	154,613,370 (GRCm39)	missense	probably damaging	1.00
R9257:Prdm16	UTSW	4	154,422,155 (GRCm39)	missense	probably damaging	1.00
R9259:Prdm16	UTSW	4	154,430,525 (GRCm39)	missense	possibly damaging	0.69
RF008:Prdm16	UTSW	4	154,426,452 (GRCm39)	missense	probably damaging	1.00
X0010:Prdm16	UTSW	4	154,407,834 (GRCm39)	missense	probably damaging	1.00
Z1176:Prdm16	UTSW	4	154,426,243 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCGAGTGGATGCCTGGTTCATCTC -3'
(R):5'- GAATGTCACCTCGCACTATCTCAGC -3'

Sequencing Primer
(F):5'- cccaacaccccacccAC -3'
(R):5'- AGCATCTTACTCCCTCCAGTATAGAG -3'

Posted On

2013-04-11