Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Pml'

544215

Institutional Source

Beutler Lab

Gene Symbol

Pml

Ensembl Gene

ENSMUSG00000036986

Gene Name

promyelocytic leukemia

Synonyms

Trim19, 1200009E24Rik

MMRRC Submission

045102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58125359-58157069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58142169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 221 (L221P)

Ref Sequence

ENSEMBL: ENSMUSP00000118955 (fasta)

Gene Model

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

AlphaFold

Q60953

Predicted Effect

probably damaging
Transcript: ENSMUST00000085673
AA Change: L221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: L221P

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 damaging
Transcript: ENSMUST00000114136
AA Change: L221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: L221P

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

SMART Domains

Protein: ENSMUSP00000116787
Gene: ENSMUSG00000036986
AA Change: L212P

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 damaging
Transcript: ENSMUST00000135310
AA Change: L221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986
AA Change: L221P

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 damaging
Transcript: ENSMUST00000153820
AA Change: L221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986
AA Change: L221P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,296,517 (GRCm39)	S310L	probably damaging	Het
Adamts16	C	T	13: 70,946,157 (GRCm39)		probably null	Het
Arrb1	C	A	7: 99,240,569 (GRCm39)	D194E	probably benign	Het
Atp1a3	T	C	7: 24,697,051 (GRCm39)	D217G	probably damaging	Het
Bcar3	A	G	3: 122,302,033 (GRCm39)	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,180,321 (GRCm39)	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,122,355 (GRCm39)	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,853,380 (GRCm39)	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,484,604 (GRCm39)	R627L	probably damaging	Het
Efr3a	T	A	15: 65,720,030 (GRCm39)	L369*	probably null	Het
Erich6	A	C	3: 58,543,516 (GRCm39)	F185V	probably damaging	Het
Fam186a	T	C	15: 99,853,374 (GRCm39)	D122G	unknown	Het
Fank1	A	G	7: 133,478,627 (GRCm39)	I230M	possibly damaging	Het
Flg2	A	T	3: 93,109,977 (GRCm39)	E668D	unknown	Het
Flg2	A	C	3: 93,110,256 (GRCm39)	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157 (GRCm39)	L260P	probably damaging	Het
Gfm2	G	A	13: 97,285,868 (GRCm39)	R119K	probably damaging	Het
Gm14226	A	G	2: 154,866,357 (GRCm39)	T105A	probably benign	Het
Gm14496	A	G	2: 181,637,997 (GRCm39)	N357S	probably damaging	Het
Gm5916	G	A	9: 36,039,935 (GRCm39)	L18F	probably benign	Het
Golm1	A	T	13: 59,790,058 (GRCm39)	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Greb1	C	T	12: 16,773,355 (GRCm39)	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,125,774 (GRCm39)	M148V	probably benign	Het
Guca1a	T	C	17: 47,706,102 (GRCm39)	S126G	probably benign	Het
Hacl1	A	T	14: 31,337,380 (GRCm39)	I393N	possibly damaging	Het
Hddc3	A	G	7: 79,993,498 (GRCm39)	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,675,569 (GRCm39)	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,366,358 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,395,669 (GRCm39)	P321T	probably benign	Het
Krt31	A	G	11: 99,938,558 (GRCm39)	V345A	probably benign	Het
Lrrc37	A	T	11: 103,509,583 (GRCm39)	L795*	probably null	Het
Mettl1	T	C	10: 126,880,887 (GRCm39)	S193P	probably benign	Het
Mme	G	A	3: 63,253,523 (GRCm39)	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,954,367 (GRCm39)	T883A	probably benign	Het
Mphosph10	C	G	7: 64,038,669 (GRCm39)	E293Q	probably benign	Het
Muc16	C	A	9: 18,557,193 (GRCm39)	K3033N	unknown	Het
Myo16	C	T	8: 10,619,496 (GRCm39)	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,157,746 (GRCm39)	I233T	probably benign	Het
Or4p4b-ps1	A	G	2: 88,454,189 (GRCm39)	T181A	unknown	Het
Or52a33	T	G	7: 103,289,065 (GRCm39)	N94T	probably benign	Het
Or52ac1	A	T	7: 104,246,018 (GRCm39)	F123L	probably benign	Het
Or5b111	A	T	19: 13,291,036 (GRCm39)	S204R	probably benign	Het
Or5h22	A	G	16: 58,894,555 (GRCm39)	M296T	probably benign	Het
Or6c2	T	A	10: 129,362,732 (GRCm39)	V212E	probably damaging	Het
Or7c70	C	A	10: 78,683,351 (GRCm39)	V133L	probably benign	Het
Oxct2b	A	G	4: 123,011,480 (GRCm39)	I467V	probably benign	Het
Parp1	A	T	1: 180,414,936 (GRCm39)	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,939,656 (GRCm39)	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,833,423 (GRCm39)	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,799,046 (GRCm39)	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,217,830 (GRCm39)	A386V	probably benign	Het
Rcn2	C	T	9: 55,964,845 (GRCm39)	Q268*	probably null	Het
Reps1	T	A	10: 17,969,603 (GRCm39)	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sap30bp	A	G	11: 115,824,314 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,118,075 (GRCm39)	S1433T	probably damaging	Het
Sde2	T	C	1: 180,678,754 (GRCm39)	V6A	probably benign	Het
Sdk1	C	A	5: 142,197,769 (GRCm39)	R2141S	probably benign	Het
Setd2	T	C	9: 110,379,640 (GRCm39)	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,334,926 (GRCm39)	V176I	probably damaging	Het
Snx7	A	G	3: 117,640,281 (GRCm39)	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,082,113 (GRCm39)	A520D	probably benign	Het
Spop	A	G	11: 95,362,136 (GRCm39)	T56A	possibly damaging	Het
Syne2	T	A	12: 76,074,786 (GRCm39)	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,517,601 (GRCm39)	M27L	probably benign	Het
Tecta	A	C	9: 42,278,082 (GRCm39)	I1142S	probably benign	Het
Timm44	T	C	8: 4,316,611 (GRCm39)	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,071 (GRCm39)	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,246,959 (GRCm39)	L370Q	probably benign	Het
Trim25	T	A	11: 88,890,329 (GRCm39)	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,524,903 (GRCm39)	Y187C	probably damaging	Het
Vpreb1a	A	G	16: 16,686,678 (GRCm39)	Y71H	probably damaging	Het
Vpreb1b	T	C	16: 17,798,441 (GRCm39)	S5P	probably benign	Het
Xpo7	A	T	14: 70,906,888 (GRCm39)	C939S	probably benign	Het
Zfp78	C	A	7: 6,381,764 (GRCm39)	S271R	probably benign	Het
Zic5	A	T	14: 122,702,080 (GRCm39)	M217K	probably benign	Het

Other mutations in Pml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Pml	APN	9	58,154,286 (GRCm39)	missense	probably benign	0.04
IGL03147:Pml	UTSW	9	58,137,326 (GRCm39)	missense	possibly damaging	0.85
R0019:Pml	UTSW	9	58,127,776 (GRCm39)	missense	probably damaging	1.00
R0905:Pml	UTSW	9	58,156,822 (GRCm39)	critical splice donor site	probably null
R1171:Pml	UTSW	9	58,141,821 (GRCm39)	missense	probably damaging	1.00
R2189:Pml	UTSW	9	58,142,157 (GRCm39)	missense	probably benign	0.00
R2330:Pml	UTSW	9	58,141,854 (GRCm39)	missense	probably damaging	1.00
R2909:Pml	UTSW	9	58,154,526 (GRCm39)	missense	possibly damaging	0.75
R4749:Pml	UTSW	9	58,141,935 (GRCm39)	missense	probably damaging	0.99
R5228:Pml	UTSW	9	58,127,280 (GRCm39)	missense	probably damaging	1.00
R5300:Pml	UTSW	9	58,154,302 (GRCm39)	missense	probably damaging	1.00
R5669:Pml	UTSW	9	58,154,346 (GRCm39)	missense	probably benign	0.00
R5876:Pml	UTSW	9	58,140,465 (GRCm39)	missense	possibly damaging	0.71
R6854:Pml	UTSW	9	58,127,189 (GRCm39)	missense	probably damaging	0.99
R7387:Pml	UTSW	9	58,137,177 (GRCm39)	missense	probably benign	0.08
R7448:Pml	UTSW	9	58,154,496 (GRCm39)	missense	probably benign	0.27
R7762:Pml	UTSW	9	58,127,456 (GRCm39)	missense	probably damaging	1.00
R7833:Pml	UTSW	9	58,141,968 (GRCm39)	missense	probably benign	0.15
R7834:Pml	UTSW	9	58,141,968 (GRCm39)	missense	probably benign	0.15
R7903:Pml	UTSW	9	58,156,867 (GRCm39)	missense	probably benign	0.01
R8040:Pml	UTSW	9	58,141,968 (GRCm39)	missense	probably benign	0.15
R8041:Pml	UTSW	9	58,141,968 (GRCm39)	missense	probably benign	0.15
R8042:Pml	UTSW	9	58,141,968 (GRCm39)	missense	probably benign	0.15
R8046:Pml	UTSW	9	58,154,256 (GRCm39)	critical splice donor site	probably null
R8284:Pml	UTSW	9	58,136,643 (GRCm39)	missense	probably benign	0.15
R8517:Pml	UTSW	9	58,127,651 (GRCm39)	missense	possibly damaging	0.63
R8762:Pml	UTSW	9	58,154,348 (GRCm39)	missense	probably damaging	1.00
R9127:Pml	UTSW	9	58,127,660 (GRCm39)	missense	probably benign
R9310:Pml	UTSW	9	58,156,945 (GRCm39)	missense	probably benign	0.19
Z1088:Pml	UTSW	9	58,141,873 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCTCAATGTCTGCGCGTGC -3'
(R):5'- GTGGAGGAATCGTTAACTGTAGTAG -3'

Sequencing Primer
(F):5'- CGTGGTCCAGCTGTCCTATAG -3'
(R):5'- CAACTCAGGTTGTCAGACTTGGC -3'

Posted On

2019-05-13