Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Pml'

597946

Institutional Source

Beutler Lab

Gene Symbol

Pml

Ensembl Gene

ENSMUSG00000036986

Gene Name

promyelocytic leukemia

Synonyms

Trim19, 1200009E24Rik

MMRRC Submission

045818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58125359-58157069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58127456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 763 (C763F)

Ref Sequence

ENSEMBL: ENSMUSP00000082816 (fasta)

Gene Model

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

AlphaFold

Q60953

Predicted Effect

probably damaging
Transcript: ENSMUST00000085673
AA Change: C763F

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

SMART Domains

Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: C763F

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: C717F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: C717F

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: ENSMUST00000126690

SMART Domains

Protein: ENSMUSP00000116787
Gene: ENSMUSG00000036986

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

SMART Domains

Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986

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: ENSMUST00000153820

SMART Domains

Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	G	14: 103,288,776 (GRCm39)	D95E	probably damaging	Het
Agpat4	A	G	17: 12,429,209 (GRCm39)	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,742,114 (GRCm39)	S653T	probably benign	Het
Aoc1l2	G	A	6: 48,909,620 (GRCm39)	V622I	probably benign	Het
Aox1	C	T	1: 58,388,263 (GRCm39)	P1124S	probably damaging	Het
Armh3	A	G	19: 45,928,882 (GRCm39)		probably null	Het
Atp4a	T	C	7: 30,419,461 (GRCm39)	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467 (GRCm38)	C718S	probably damaging	Het
Btbd2	T	A	10: 80,479,390 (GRCm39)	I516F	probably damaging	Het
Card6	A	G	15: 5,134,820 (GRCm39)	S128P	probably benign	Het
Cat	T	C	2: 103,287,203 (GRCm39)	K476E	probably benign	Het
Ccr9	A	T	9: 123,609,022 (GRCm39)	T235S	probably benign	Het
Cep55	T	G	19: 38,057,517 (GRCm39)		probably null	Het
Clec2e	A	G	6: 129,072,091 (GRCm39)	F96S	possibly damaging	Het
Clk2	G	A	3: 89,074,498 (GRCm39)	V53I	probably benign	Het
Clnk	T	C	5: 38,925,484 (GRCm39)	M106V	probably benign	Het
Col6a5	T	C	9: 105,808,523 (GRCm39)	I842V	unknown	Het
Csf1r	A	T	18: 61,243,572 (GRCm39)	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,770,725 (GRCm39)	N116K		Het
Dnaja4	A	G	9: 54,616,494 (GRCm39)	I166V	probably benign	Het
Dqx1	A	G	6: 83,038,013 (GRCm39)	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719 (GRCm39)	T1760A	probably benign	Het
Eea1	T	C	10: 95,864,301 (GRCm39)	V940A	probably benign	Het
Egr1	T	A	18: 34,996,598 (GRCm39)	V460E	probably damaging	Het
Eral1	A	G	11: 77,965,359 (GRCm39)	I352T	possibly damaging	Het
F2	T	C	2: 91,459,041 (GRCm39)	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,399,714 (GRCm39)	V463A	possibly damaging	Het
Fat1	T	A	8: 45,490,374 (GRCm39)	L3762H	probably damaging	Het
Fat1	T	C	8: 45,476,359 (GRCm39)	S1802P	probably damaging	Het
Fibp	A	T	19: 5,514,202 (GRCm39)	N296Y	probably benign	Het
Figla	A	G	6: 85,994,308 (GRCm39)	M28V	probably benign	Het
Foxd3	C	A	4: 99,545,362 (GRCm39)	Y167*	probably null	Het
Gm17019	T	A	5: 15,081,006 (GRCm39)	H145L	probably benign	Het
Gm48552	C	T	10: 81,226,269 (GRCm39)	P18L	probably damaging	Het
H2-Q6	A	G	17: 35,647,077 (GRCm39)	N283S	probably benign	Het
Hrh2	T	A	13: 54,368,058 (GRCm39)	C11*	probably null	Het
Hrnr	G	T	3: 93,239,506 (GRCm39)	G3248V	unknown	Het
Iapp	C	A	6: 142,249,122 (GRCm39)	N58K	possibly damaging	Het
Itga5	T	C	15: 103,258,184 (GRCm39)	N837S	probably benign	Het
Klhl35	C	A	7: 99,117,647 (GRCm39)	H64N	probably benign	Het
Lcor	T	C	19: 41,572,106 (GRCm39)	L287S	probably benign	Het
Lrba	T	A	3: 86,439,508 (GRCm39)	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421 (GRCm39)	I3276T	probably benign	Het
Mlh3	G	T	12: 85,315,058 (GRCm39)	T376K	possibly damaging	Het
Muc21	G	A	17: 35,932,977 (GRCm39)	T403I	unknown	Het
Nbea	A	T	3: 55,557,126 (GRCm39)	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,663,630 (GRCm39)	G763D	probably damaging	Het
Ntf5	C	A	7: 45,065,243 (GRCm39)	A125E	probably damaging	Het
Obsl1	A	T	1: 75,480,167 (GRCm39)	C460S	probably benign	Het
Or1j19	A	T	2: 36,677,022 (GRCm39)	I162F	probably benign	Het
Or1s2	A	T	19: 13,758,650 (GRCm39)	R223W	probably damaging	Het
Or2g7	G	A	17: 38,378,566 (GRCm39)	C168Y	probably damaging	Het
Or2y10	T	A	11: 49,455,588 (GRCm39)	I280N	possibly damaging	Het
Or4b1b	T	A	2: 90,126,975 (GRCm39)	K77*	probably null	Het
Or6c33	A	G	10: 129,853,050 (GRCm39)		probably benign	Het
Or8d1b	G	A	9: 38,887,490 (GRCm39)	V173I	probably benign	Het
Orai3	G	A	7: 127,372,743 (GRCm39)	G130S	unknown	Het
Pcdhb12	T	G	18: 37,568,977 (GRCm39)	V41G	probably damaging	Het
Plec	A	T	15: 76,067,823 (GRCm39)	L1194Q	unknown	Het
Prdm15	T	A	16: 97,619,473 (GRCm39)	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,415,906 (GRCm39)	T473N	probably benign	Het
Sbno1	T	A	5: 124,512,729 (GRCm39)	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,610,113 (GRCm39)	D269N	probably damaging	Het
Serpina9	A	T	12: 103,967,575 (GRCm39)	F273L	probably damaging	Het
Sgms2	T	A	3: 131,116,898 (GRCm39)	Y319F	probably benign	Het
Sgo2b	A	T	8: 64,379,531 (GRCm39)	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,236,754 (GRCm39)		probably null	Het
Shh	T	G	5: 28,671,664 (GRCm39)	K33T	probably benign	Het
Slc5a9	A	G	4: 111,747,371 (GRCm39)	Y339H	probably damaging	Het
Spice1	T	A	16: 44,190,864 (GRCm39)		probably null	Het
Tbx2	A	G	11: 85,726,727 (GRCm39)	E257G	probably damaging	Het
Tenm2	G	A	11: 35,914,133 (GRCm39)	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 51,018,575 (GRCm39)	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,631,760 (GRCm39)	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,975,411 (GRCm39)	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,145,048 (GRCm39)	K711N	probably benign	Het
Vcan	G	T	13: 89,841,056 (GRCm39)	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,371,845 (GRCm39)	A125E	probably damaging	Het
Vti1b	A	T	12: 79,211,720 (GRCm39)		probably null	Het
Vwa3b	A	C	1: 37,163,126 (GRCm39)	D583A	probably damaging	Het
Zfp638	T	C	6: 83,953,254 (GRCm39)	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,315,409 (GRCm39)	F1356I	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
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
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'- GTCTGCAGGCTCAGATAGTG -3'
(R):5'- TGGGAATTCCAGGACACCATCTC -3'

Sequencing Primer
(F):5'- CAGGCTCAGATAGTGGACATACTTC -3'
(R):5'- AGGACACCATCTCAGGTTTCTTGG -3'

Posted On

2019-11-26