Mutagenetix > Incidental Mutation

Incidental Mutation 'R7834:Pml'

605866

Institutional Source

Beutler Lab

Gene Symbol

Pml

Ensembl Gene

ENSMUSG00000036986

Gene Name

promyelocytic leukemia

Synonyms

Trim19, 1200009E24Rik

MMRRC Submission

045888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7834 (G1)

Quality Score

209.009

Status

Validated

Chromosome

Chromosomal Location

58125359-58157069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58141968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 288 (R288L)

Ref Sequence

ENSEMBL: ENSMUSP00000082816 (fasta)

Gene Model

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

AlphaFold

Q60953

Predicted Effect

probably benign
Transcript: ENSMUST00000085673
AA Change: R288L

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: R288L

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: R288L

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: R288L

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: R279L

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: ENSMUST00000135310
AA Change: R288L

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986
AA Change: R288L

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: R288L

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986
AA Change: R288L

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: 99.1%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,115,068 (GRCm39)	I626N	probably damaging	Het
Abcc12	T	A	8: 87,258,179 (GRCm39)	Y779F	possibly damaging	Het
Abcc12	C	T	8: 87,284,859 (GRCm39)	C252Y	probably damaging	Het
Adam22	A	T	5: 8,180,535 (GRCm39)	C521S	probably damaging	Het
Adcy5	C	A	16: 34,977,570 (GRCm39)	H368N	probably benign	Het
Akap13	T	A	7: 75,392,390 (GRCm39)	I2411N	possibly damaging	Het
Ankrd12	A	G	17: 66,294,347 (GRCm39)	F339S	probably damaging	Het
Bmp1	T	A	14: 70,746,005 (GRCm39)	R153W	probably damaging	Het
Bmp6	T	C	13: 38,653,643 (GRCm39)	F237L	probably damaging	Het
Cacna1c	A	G	6: 118,587,542 (GRCm39)	S1628P		Het
Ccdc141	T	C	2: 76,889,889 (GRCm39)	R468G	possibly damaging	Het
Cdc40	A	T	10: 40,758,945 (GRCm39)	S43T	probably benign	Het
Celf4	A	G	18: 25,886,542 (GRCm39)	M48T	probably benign	Het
Clec4g	A	T	8: 3,766,500 (GRCm39)	M267K	probably damaging	Het
Col6a1	G	T	10: 76,545,762 (GRCm39)	S903R	unknown	Het
Creg2	A	G	1: 39,689,802 (GRCm39)	F103L	probably damaging	Het
Cul9	T	C	17: 46,836,630 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,414,774 (GRCm39)	A756V	probably benign	Het
Diaph1	G	A	18: 37,986,762 (GRCm39)		probably benign	Het
Dmxl1	G	A	18: 50,054,044 (GRCm39)	G2550D	probably damaging	Het
Dst	G	T	1: 34,233,186 (GRCm39)	R3396I	probably benign	Het
Dync2h1	T	C	9: 7,118,953 (GRCm39)	T2171A	probably benign	Het
Fgd2	C	T	17: 29,583,925 (GRCm39)	T113M	probably damaging	Het
Galnt6	G	T	15: 100,611,984 (GRCm39)	S219R	probably damaging	Het
Gbp6	T	A	5: 105,421,131 (GRCm39)	E558V	probably benign	Het
Gnas	A	T	2: 174,140,783 (GRCm39)	K377*	probably null	Het
Hars2	T	C	18: 36,922,634 (GRCm39)	I389T	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,091 (GRCm39)	I123V	possibly damaging	Het
Igkv6-14	A	T	6: 70,411,992 (GRCm39)	N97K	possibly damaging	Het
Isg20	T	C	7: 78,569,867 (GRCm39)	L168P	probably damaging	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnn3	A	G	3: 89,428,661 (GRCm39)	I296V	probably damaging	Het
Kif18a	G	A	2: 109,127,119 (GRCm39)	R351H	probably damaging	Het
Klra5	A	T	6: 129,876,253 (GRCm39)		probably null	Het
Krt9	T	C	11: 100,083,492 (GRCm39)	T180A	probably benign	Het
Lhx8	T	C	3: 154,017,174 (GRCm39)	S323G	probably null	Het
Lpcat2	T	A	8: 93,644,729 (GRCm39)	L506H	possibly damaging	Het
Map2	A	G	1: 66,455,647 (GRCm39)	E1447G	probably damaging	Het
Mapk8ip2	A	T	15: 89,345,576 (GRCm39)	I779F	probably damaging	Het
Mcmdc2	G	A	1: 9,982,399 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,949,182 (GRCm39)	E217K	probably damaging	Het
Muc5b	G	A	7: 141,412,807 (GRCm39)	G1918R	unknown	Het
Mug2	T	C	6: 122,013,241 (GRCm39)	I336T	probably benign	Het
Myh10	T	C	11: 68,676,652 (GRCm39)	V878A	probably damaging	Het
Nomo1	T	C	7: 45,706,162 (GRCm39)		probably null	Het
Ogdhl	T	A	14: 32,062,666 (GRCm39)	I584N	probably benign	Het
Pdzrn3	G	A	6: 101,128,156 (GRCm39)	R837C	probably damaging	Het
Pkhd1	A	G	1: 20,382,273 (GRCm39)	M2626T	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pnliprp2	T	C	19: 58,762,591 (GRCm39)	S399P	probably benign	Het
Prelp	T	C	1: 133,842,510 (GRCm39)	T212A	probably damaging	Het
Ptpn13	T	A	5: 103,610,014 (GRCm39)	S4T	probably damaging	Het
Ptprb	A	C	10: 116,175,329 (GRCm39)	E821A	probably benign	Het
Rabgap1	T	C	2: 37,359,419 (GRCm39)		probably benign	Het
Reln	C	T	5: 22,244,633 (GRCm39)	V782M	possibly damaging	Het
Rpl3l	T	C	17: 24,952,437 (GRCm39)	V52A	possibly damaging	Het
Rrp1b	T	C	17: 32,270,698 (GRCm39)	V219A	probably benign	Het
Rtn1	T	A	12: 72,350,806 (GRCm39)	I468F	probably damaging	Het
Safb	T	A	17: 56,900,881 (GRCm39)	M129K	unknown	Het
Sall1	C	A	8: 89,760,002 (GRCm39)	S34I	probably benign	Het
Slc2a8	C	T	2: 32,866,919 (GRCm39)	G227D	probably damaging	Het
Slco4a1	G	T	2: 180,107,470 (GRCm39)	V295L	probably benign	Het
Slfn5	A	T	11: 82,851,278 (GRCm39)	Q525L	possibly damaging	Het
Speg	C	T	1: 75,361,571 (GRCm39)	T195M	probably damaging	Het
Syne2	A	T	12: 76,014,021 (GRCm39)	T3071S	probably benign	Het
Syngr1	G	T	15: 79,995,818 (GRCm39)	W119L	probably damaging	Het
Tenm2	A	G	11: 35,915,681 (GRCm39)	L1951P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Ush2a	G	A	1: 188,465,637 (GRCm39)	W2735*	probably null	Het
Usp17lb	T	A	7: 104,490,718 (GRCm39)	T70S	probably damaging	Het
Vmn2r6	T	G	3: 64,445,443 (GRCm39)	N761H	probably damaging	Het
Vps13d	A	T	4: 144,835,143 (GRCm39)	I2741K		Het
Wdr38	A	T	2: 38,890,196 (GRCm39)	Q110L	possibly damaging	Het
Zfp872	A	G	9: 22,111,406 (GRCm39)	K295R	probably damaging	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
R6996:Pml	UTSW	9	58,142,169 (GRCm39)	missense	probably damaging	1.00
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
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'- CAAGCTACAGAGTGCCTTGC -3'
(R):5'- CATTGCGATATTGGTGAGGAGATTC -3'

Sequencing Primer
(F):5'- CGCAGAAAGCTGTGCATATC -3'
(R):5'- TTCAGCAGTGGCATGAGG -3'

Posted On

2019-12-20