Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Pml'

705480

Institutional Source

Beutler Lab

Gene Symbol

Pml

Ensembl Gene

ENSMUSG00000036986

Gene Name

promyelocytic leukemia

Synonyms

Trim19, 1200009E24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58125359-58157069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58156945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 10 (K10R)

Ref Sequence

ENSEMBL: ENSMUSP00000082816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034883] [ENSMUST00000085673] [ENSMUST00000114136] [ENSMUST00000124063] [ENSMUST00000124982] [ENSMUST00000135310] [ENSMUST00000148301] [ENSMUST00000153820] [ENSMUST00000215488] [ENSMUST00000216877] [ENSMUST00000217165]

AlphaFold

Q60953

Predicted Effect

probably benign
Transcript: ENSMUST00000034883

SMART Domains

Protein: ENSMUSP00000034883
Gene: ENSMUSG00000032333

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
PHB	77	237	7.08e-42	SMART
Pfam:SCP2	292	396	7.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085673
AA Change: K10R

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: K10R

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: K10R

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: K10R

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
AA Change: K10R

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121380
Gene: ENSMUSG00000036986
AA Change: K10R

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

SMART Domains

Protein: ENSMUSP00000116787
Gene: ENSMUSG00000036986
AA Change: K1R

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: K10R

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986
AA Change: K10R

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

possibly damaging
Transcript: ENSMUST00000148301
AA Change: K10R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120620
Gene: ENSMUSG00000036986
AA Change: K10R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153820
AA Change: K10R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986
AA Change: K10R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215488

Predicted Effect

probably benign
Transcript: ENSMUST00000216877

Predicted Effect

probably benign
Transcript: ENSMUST00000217165

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,698,859 (GRCm39)	I83V	possibly damaging	Het
Abcf1	G	A	17: 36,272,621 (GRCm39)	A288V	probably null	Het
Acer1	A	T	17: 57,262,598 (GRCm39)	V184D	probably damaging	Het
Apoh	T	C	11: 108,298,307 (GRCm39)		probably null	Het
Arid1a	T	C	4: 133,413,625 (GRCm39)	Y959C	unknown	Het
Asb3	A	T	11: 30,978,962 (GRCm39)	H84L	probably benign	Het
Atxn1	A	C	13: 45,721,494 (GRCm39)	Y134D	probably damaging	Het
Btbd1	T	C	7: 81,478,985 (GRCm39)	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,136,464 (GRCm39)	D170G	probably damaging	Het
Cacna1a	C	A	8: 85,263,046 (GRCm39)	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,248,914 (GRCm39)		probably null	Het
Cc2d2a	T	C	5: 43,852,488 (GRCm39)	F404S	probably damaging	Het
Cdh20	T	C	1: 104,875,061 (GRCm39)	M281T	probably damaging	Het
Cfap54	A	T	10: 92,798,177 (GRCm39)	M1694K	unknown	Het
Chd6	G	T	2: 160,881,181 (GRCm39)	T261K	probably damaging	Het
Cnksr1	T	C	4: 133,956,330 (GRCm39)	S585G	probably damaging	Het
Cntnap2	A	T	6: 45,978,281 (GRCm39)	Y312F	probably damaging	Het
Coa7	T	A	4: 108,195,510 (GRCm39)	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414 (GRCm39)	K145E	unknown	Het
Coq8b	T	A	7: 26,941,486 (GRCm39)	I221N	probably damaging	Het
Cpd	A	T	11: 76,705,607 (GRCm39)	L375*	probably null	Het
Dnah5	T	C	15: 28,448,579 (GRCm39)	F4214S	probably damaging	Het
Dnai3	C	T	3: 145,802,895 (GRCm39)		probably null	Het
Dock2	A	G	11: 34,244,139 (GRCm39)	F1067S	possibly damaging	Het
Dpp6	G	A	5: 27,836,439 (GRCm39)	A310T	probably damaging	Het
Dpp6	C	A	5: 27,930,642 (GRCm39)	L825I	probably benign	Het
Efcab5	A	G	11: 77,004,531 (GRCm39)	V929A	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Espl1	G	A	15: 102,205,285 (GRCm39)		probably null	Het
Firrm	A	G	1: 163,792,089 (GRCm39)	C610R	probably damaging	Het
Gm4847	T	C	1: 166,460,281 (GRCm39)	R402G	probably benign	Het
Grid1	T	C	14: 34,748,762 (GRCm39)	L194S	probably damaging	Het
Heatr1	A	T	13: 12,453,491 (GRCm39)	H2122L	probably benign	Het
Il17b	T	A	18: 61,825,334 (GRCm39)	C123*	probably null	Het
Il17rc	T	C	6: 113,451,210 (GRCm39)	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,287,940 (GRCm39)	I619L	probably benign	Het
Itgax	C	A	7: 127,741,432 (GRCm39)	Y814*	probably null	Het
Marcks	C	T	10: 37,012,487 (GRCm39)	E183K	unknown	Het
Mefv	T	C	16: 3,533,252 (GRCm39)	T340A	probably benign	Het
Mical2	A	G	7: 111,950,920 (GRCm39)	K958R	probably benign	Het
Mrtfb	T	A	16: 13,218,954 (GRCm39)	D533E	probably benign	Het
Mtor	T	A	4: 148,553,834 (GRCm39)	L811Q	probably benign	Het
Myh4	A	G	11: 67,145,570 (GRCm39)	Y1351C	probably damaging	Het
Neb	T	C	2: 52,153,708 (GRCm39)	M2406V	probably benign	Het
Nebl	T	C	2: 17,353,678 (GRCm39)	T214A	probably benign	Het
Nlrx1	A	T	9: 44,164,705 (GRCm39)	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404 (GRCm39)	A74S	probably benign	Het
Or4c115	T	A	2: 88,928,257 (GRCm39)	S5C	probably damaging	Het
Or6b6	C	A	7: 106,570,678 (GRCm39)	C291F	probably damaging	Het
Or6c88	T	A	10: 129,406,687 (GRCm39)	N54K	probably benign	Het
Pard3b	G	T	1: 62,205,528 (GRCm39)	V441F	probably damaging	Het
Pcsk1	G	A	13: 75,238,191 (GRCm39)	R4K	probably benign	Het
Pisd	G	T	5: 32,894,784 (GRCm39)	N337K	possibly damaging	Het
Prkci	T	C	3: 31,083,664 (GRCm39)	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,374,975 (GRCm39)	M1225K	probably benign	Het
Prss23	T	C	7: 89,159,142 (GRCm39)	D309G	probably damaging	Het
Pxdn	G	A	12: 30,052,051 (GRCm39)	G743S	probably damaging	Het
Rab29	A	T	1: 131,799,860 (GRCm39)	E145V	probably damaging	Het
Rasef	C	T	4: 73,653,956 (GRCm39)		probably null	Het
Rcbtb1	T	G	14: 59,472,699 (GRCm39)	I496S	probably benign	Het
Rcor1	T	C	12: 111,066,393 (GRCm39)	Y228H		Het
Reep5	C	T	18: 34,490,222 (GRCm39)	V92I	probably damaging	Het
Rfx3	T	C	19: 27,827,329 (GRCm39)	S86G	probably benign	Het
Rptn	T	A	3: 93,304,384 (GRCm39)	D572E	probably benign	Het
Rsl1	A	T	13: 67,324,510 (GRCm39)		probably null	Het
Sbf2	T	C	7: 109,914,292 (GRCm39)	E1630G	possibly damaging	Het
Sele	G	A	1: 163,876,975 (GRCm39)	V84I	probably benign	Het
Serpina1b	T	C	12: 103,698,756 (GRCm39)	D31G	probably benign	Het
Serpina3c	T	C	12: 104,115,813 (GRCm39)	I244V	probably benign	Het
Serpinb6e	A	G	13: 34,017,204 (GRCm39)	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,219,523 (GRCm39)	D150G	probably benign	Het
Sgpp1	T	C	12: 75,769,374 (GRCm39)	T265A	probably benign	Het
Slc9a1	T	A	4: 133,143,681 (GRCm39)	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,204,236 (GRCm39)	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,427,619 (GRCm39)	V650E	possibly damaging	Het
Slit2	T	C	5: 48,349,568 (GRCm39)	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,936 (GRCm39)	E593G	probably null	Het
Spata2l	C	T	8: 123,960,873 (GRCm39)	V139M	probably benign	Het
Suco	T	C	1: 161,684,427 (GRCm39)	K231R	probably damaging	Het
Tenm3	C	A	8: 49,008,935 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,699,118 (GRCm39)	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,527,072 (GRCm39)	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239 (GRCm39)	I447T	possibly damaging	Het
Usp32	G	A	11: 84,942,028 (GRCm39)	L355F	probably benign	Het
Vcpip1	T	C	1: 9,817,927 (GRCm39)	N152S	possibly damaging	Het
Vgf	A	G	5: 137,061,110 (GRCm39)	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,227,993 (GRCm39)	M81K	possibly damaging	Het
Washc5	G	A	15: 59,218,067 (GRCm39)	A732V	possibly damaging	Het
Xrcc3	T	G	12: 111,771,485 (GRCm39)	D213A	probably damaging	Het
Zeb2	T	C	2: 44,886,988 (GRCm39)	T690A	probably benign	Het
Zfat	G	A	15: 67,956,250 (GRCm39)	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,819,949 (GRCm39)	L302F	probably damaging	Het
Zfp799	A	C	17: 33,039,733 (GRCm39)	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634 (GRCm39)	E348G	unknown	Het
Zhx3	A	G	2: 160,621,393 (GRCm39)	W925R	possibly 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
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
Z1088:Pml	UTSW	9	58,141,873 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGGTGTCTCTTTAGGACACTAAC -3'
(R):5'- TATAGAACCAGCCTCTCCGC -3'

Sequencing Primer
(F):5'- TCTCTTTAGGACACTAACCCATTAAC -3'
(R):5'- AGCCTCTCCGCCCCTAGAC -3'

Posted On

2022-03-25