Mutagenetix > Incidental Mutations

Incidental Mutation 'R5669:Pml'

442517

Institutional Source

Beutler Lab

Gene Symbol

Pml

Ensembl Gene

ENSMUSG00000036986

Gene Name

promyelocytic leukemia

Synonyms

Trim19, 1200009E24Rik

MMRRC Submission

043312-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5669 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58218076-58249786 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58247063 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 176 (D176N)

Ref Sequence

ENSEMBL: ENSMUSP00000118955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085673] [ENSMUST00000114136] [ENSMUST00000124063] [ENSMUST00000124982] [ENSMUST00000135310] [ENSMUST00000148301] [ENSMUST00000153820]

Predicted Effect

probably benign
Transcript: ENSMUST00000085673
AA Change: D176N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: D176N

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
RING	62	96	1.83e-3	SMART
BBOX	129	171	4.99e-5	SMART
Blast:BBOX	189	233	5e-7	BLAST
Pfam:DUF3583	244	580	4e-166	PFAM
Blast:EXOIII	619	762	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000114136
AA Change: D176N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: D176N

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
RING	62	96	1.83e-3	SMART
BBOX	129	171	4.99e-5	SMART
Blast:BBOX	189	233	4e-7	BLAST
Pfam:DUF3583	244	434	5.5e-109	PFAM
Pfam:DUF3583	428	535	1.4e-57	PFAM
Blast:EXOIII	573	716	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000124063

SMART Domains

Protein: ENSMUSP00000118232
Gene: ENSMUSG00000036986

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124982

SMART Domains

Protein: ENSMUSP00000121380
Gene: ENSMUSG00000036986

Domain	Start	End	E-Value	Type
RING	22	56	1.83e-3	SMART
Pfam:zf-B_box	89	119	4.3e-7	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000126690
AA Change: D167N

SMART Domains

Protein: ENSMUSP00000116787
Gene: ENSMUSG00000036986
AA Change: D167N

Domain	Start	End	E-Value	Type
low complexity region	19	32	N/A	INTRINSIC
RING	54	88	1.83e-3	SMART
BBOX	121	163	4.99e-5	SMART
Blast:BBOX	181	225	4e-7	BLAST
Pfam:DUF3583	236	422	1.4e-89	PFAM
Pfam:DUF3583	411	526	2.1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130459

SMART Domains

Protein: ENSMUSP00000121330
Gene: ENSMUSG00000036986

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135310
AA Change: D176N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986
AA Change: D176N

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
RING	62	96	1.83e-3	SMART
BBOX	129	171	4.99e-5	SMART
Blast:BBOX	189	233	4e-7	BLAST
Pfam:DUF3583	244	581	8.8e-193	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148301

SMART Domains

Protein: ENSMUSP00000120620
Gene: ENSMUSG00000036986

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153820
AA Change: D176N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986
AA Change: D176N

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
RING	62	96	1.83e-3	SMART
BBOX	129	171	4.99e-5	SMART
Blast:BBOX	189	233	4e-7	BLAST
Pfam:DUF3583	244	581	9.2e-193	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Akap9	T	A	5: 4,050,540	L2734*	probably null	Het
Aldh1a1	T	C	19: 20,610,920	I25T	probably damaging	Het
Astl	G	T	2: 127,347,279	R175L	probably damaging	Het
BC035947	A	T	1: 78,497,913	C661S	probably damaging	Het
Cd160	C	T	3: 96,808,898		probably benign	Het
Cdc42bpb	C	T	12: 111,302,013		probably null	Het
Cdip1	T	A	16: 4,768,815	I149F	probably damaging	Het
Cfap65	T	C	1: 74,924,968	Y607C	probably damaging	Het
Col6a5	A	G	9: 105,925,998	I1256T	unknown	Het
Copb1	A	G	7: 114,237,585	V336A	probably damaging	Het
Ddx42	A	T	11: 106,241,819	D556V	probably damaging	Het
Dlk1	T	C	12: 109,460,038	V279A	probably benign	Het
Fbll1	T	C	11: 35,797,584	N284S	probably benign	Het
Fbxw21	A	T	9: 109,145,510	I314N	probably benign	Het
Foxa3	T	C	7: 19,014,251	T317A	probably benign	Het
Gm14139	A	G	2: 150,192,178	I140V	probably benign	Het
Gpr37	A	T	6: 25,669,352	C498S	probably benign	Het
Hapln3	G	T	7: 79,117,496		probably null	Het
Igkv4-54	A	G	6: 69,631,848	V29A	possibly damaging	Het
Itgb8	T	A	12: 119,190,628	I225F	probably damaging	Het
Kcnk3	A	G	5: 30,622,349	T248A	probably damaging	Het
Kcnv1	T	C	15: 45,114,252	Q130R	possibly damaging	Het
Lrp1b	T	C	2: 41,111,038	H2058R	probably damaging	Het
Macf1	T	A	4: 123,476,225	E1581V	probably damaging	Het
Mga	A	G	2: 119,903,426	N252D	probably damaging	Het
Nadsyn1	C	T	7: 143,807,431	G335S	probably damaging	Het
Olfr1115	T	C	2: 87,252,441	V168A	probably benign	Het
Olfr58	T	C	9: 19,783,757	F208S	probably benign	Het
Pak7	G	A	2: 136,116,284	P295S	probably damaging	Het
Pcsk1	T	A	13: 75,130,102	S595T	probably benign	Het
Pepd	T	C	7: 35,040,674	V324A	probably benign	Het
Popdc3	T	A	10: 45,316,433	I163N	probably damaging	Het
Ppp1r13l	A	C	7: 19,373,022	T481P	probably benign	Het
Pramef12	T	C	4: 144,395,843	I44V	probably benign	Het
Prlh	A	G	1: 90,953,120	T5A	probably benign	Het
Prom1	A	G	5: 44,012,943	F638S	possibly damaging	Het
Prpf8	T	A	11: 75,504,738	L1897H	probably damaging	Het
Ret	T	C	6: 118,184,243	T91A	probably benign	Het
Retsat	A	G	6: 72,606,010	S176G	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf213	T	C	11: 119,458,785	L3823P	possibly damaging	Het
Rnf31	C	T	14: 55,596,704	A653V	probably damaging	Het
Rps6kl1	T	C	12: 85,147,867	D90G	probably damaging	Het
Scarb1	A	G	5: 125,300,387	Y194H	probably damaging	Het
Scube2	C	T	7: 109,825,439	A556T	probably benign	Het
Serpinb1a	A	G	13: 32,845,316	L243P	probably damaging	Het
Slc39a4	A	C	15: 76,614,163	L358R	probably damaging	Het
Slitrk5	A	G	14: 111,681,623	D893G	probably damaging	Het
Srgap1	C	A	10: 121,804,850	V681L	probably benign	Het
Tmprss6	A	T	15: 78,454,956	M262K	possibly damaging	Het
Ttf2	T	A	3: 100,951,117	K719*	probably null	Het
Vmn1r62	T	A	7: 5,675,737	L139*	probably null	Het

Other mutations in Pml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Pml	APN	9	58247003	missense	probably benign	0.04
IGL03147:Pml	UTSW	9	58230043	missense	possibly damaging	0.85
R0019:Pml	UTSW	9	58220493	missense	probably damaging	1.00
R0905:Pml	UTSW	9	58249539	critical splice donor site	probably null
R1171:Pml	UTSW	9	58234538	missense	probably damaging	1.00
R2189:Pml	UTSW	9	58234874	missense	probably benign	0.00
R2330:Pml	UTSW	9	58234571	missense	probably damaging	1.00
R2909:Pml	UTSW	9	58247243	missense	possibly damaging	0.75
R4749:Pml	UTSW	9	58234652	missense	probably damaging	0.99
R5228:Pml	UTSW	9	58219997	missense	probably damaging	1.00
R5300:Pml	UTSW	9	58247019	missense	probably damaging	1.00
R5876:Pml	UTSW	9	58233182	missense	possibly damaging	0.71
R6854:Pml	UTSW	9	58219906	missense	probably damaging	0.99
R6996:Pml	UTSW	9	58234886	missense	probably damaging	1.00
R7387:Pml	UTSW	9	58229894	missense	probably benign	0.08
R7448:Pml	UTSW	9	58247213	missense	probably benign	0.27
R7762:Pml	UTSW	9	58220173	missense	probably damaging	1.00
R7833:Pml	UTSW	9	58234685	missense	probably benign	0.15
R7834:Pml	UTSW	9	58234685	missense	probably benign	0.15
R7903:Pml	UTSW	9	58249584	missense	probably benign	0.01
R7916:Pml	UTSW	9	58234685	missense	probably benign	0.15
R7917:Pml	UTSW	9	58234685	missense	probably benign	0.15
R7986:Pml	UTSW	9	58249584	missense	probably benign	0.01
R8040:Pml	UTSW	9	58234685	missense	probably benign	0.15
R8041:Pml	UTSW	9	58234685	missense	probably benign	0.15
R8042:Pml	UTSW	9	58234685	missense	probably benign	0.15
R8046:Pml	UTSW	9	58246973	critical splice donor site	probably null
Z1088:Pml	UTSW	9	58234590	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTGCAAAGATGACTCTGAAGC -3'
(R):5'- AACGTGTTCTTCGAGAGCCTG -3'

Sequencing Primer
(F):5'- GGGTCATTAGAAACGACTATAAACC -3'
(R):5'- CGACTTCTGGTGTTTCGA -3'

Posted On

2016-11-09