Mutagenetix > Incidental Mutation

Incidental Mutation 'R0109:Pomp'

17825

Institutional Source

Beutler Lab

Gene Symbol

Pomp

Ensembl Gene

ENSMUSG00000029649

Gene Name

proteasome maturation protein

Synonyms

2510048O06Rik, Ump1

MMRRC Submission

038395-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R0109 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

147797438-147812594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147812323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 136 (H136Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031654] [ENSMUST00000031655] [ENSMUST00000118527] [ENSMUST00000201120] [ENSMUST00000201376]

AlphaFold

Q9CQT5

Predicted Effect

probably benign
Transcript: ENSMUST00000031654
AA Change: H136Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000031654
Gene: ENSMUSG00000029649
AA Change: H136Q

Domain	Start	End	E-Value	Type
Pfam:UMP1	23	138	6.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031655

SMART Domains

Protein: ENSMUSP00000031655
Gene: ENSMUSG00000029650

Domain	Start	End	E-Value	Type
Pfam:MFS_1	8	400	4.3e-15	PFAM
transmembrane domain	411	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118527

SMART Domains

Protein: ENSMUSP00000113879
Gene: ENSMUSG00000029650

Domain	Start	End	E-Value	Type
Pfam:MFS_1	8	400	5.5e-15	PFAM
transmembrane domain	411	433	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152064

Predicted Effect

probably benign
Transcript: ENSMUST00000201120

SMART Domains

Protein: ENSMUSP00000144196
Gene: ENSMUSG00000029649

Domain	Start	End	E-Value	Type
Pfam:UMP1	23	100	3.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201376

SMART Domains

Protein: ENSMUSP00000144685
Gene: ENSMUSG00000029649

Domain	Start	End	E-Value	Type
Pfam:UMP1	23	92	3.4e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202621

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.6%
3x: 88.5%
10x: 83.8%
20x: 77.5%

Validation Efficiency

90% (95/106)

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 molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,636,262 (GRCm39)	H710Q	probably benign	Het
Abca14	A	T	7: 119,917,985 (GRCm39)	K1496*	probably null	Het
Anapc1	C	A	2: 128,476,613 (GRCm39)	R1335L	probably damaging	Het
Arhgef10l	A	T	4: 140,305,605 (GRCm39)	S203T	probably benign	Het
Astn1	C	T	1: 158,491,674 (GRCm39)	T41I	possibly damaging	Het
Atrnl1	T	A	19: 57,743,949 (GRCm39)	Y1184N	possibly damaging	Het
Avil	A	G	10: 126,849,513 (GRCm39)	N603S	probably benign	Het
Brca1	T	C	11: 101,421,916 (GRCm39)	D149G	possibly damaging	Het
Car14	C	A	3: 95,806,763 (GRCm39)	A234S	probably benign	Het
Cep164	A	C	9: 45,682,885 (GRCm39)	L935R	probably damaging	Het
Cps1	T	C	1: 67,268,577 (GRCm39)	V1435A	possibly damaging	Het
Csmd2	T	G	4: 128,438,536 (GRCm39)	S3038R	probably benign	Het
Cyp2j6	A	T	4: 96,406,394 (GRCm39)	I459N	probably damaging	Het
Cyth1	T	C	11: 118,073,132 (GRCm39)	E242G	probably damaging	Het
Dclk3	T	G	9: 111,296,738 (GRCm39)	L94R	possibly damaging	Het
Disp2	T	C	2: 118,622,297 (GRCm39)	S1010P	probably damaging	Het
Dlec1	G	A	9: 118,934,892 (GRCm39)	R145H	probably damaging	Het
Dsg3	T	C	18: 20,673,191 (GRCm39)	V954A	probably damaging	Het
Dync2h1	T	A	9: 7,111,487 (GRCm39)	D309V	probably damaging	Het
Fam13b	A	G	18: 34,584,361 (GRCm39)	I601T	probably benign	Het
Fgd5	T	A	6: 91,965,216 (GRCm39)	M325K	possibly damaging	Het
Frmpd1	A	T	4: 45,279,340 (GRCm39)	E688D	probably benign	Het
Gabrb1	C	T	5: 72,279,289 (GRCm39)		probably benign	Het
Gm6590	A	T	6: 130,461,869 (GRCm39)		noncoding transcript	Het
Gse1	T	A	8: 121,294,524 (GRCm39)	S284T	probably damaging	Het
Ipo13	C	T	4: 117,762,213 (GRCm39)	R387Q	possibly damaging	Het
Kctd16	A	G	18: 40,392,204 (GRCm39)	E264G	probably benign	Het
Krt73	A	T	15: 101,704,830 (GRCm39)	L352*	probably null	Het
Mapk15	A	T	15: 75,867,926 (GRCm39)	K153*	probably null	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mcoln2	C	G	3: 145,881,473 (GRCm39)	R210G	probably damaging	Het
Miox	G	A	15: 89,219,784 (GRCm39)	V91I	probably benign	Het
Myh7b	A	G	2: 155,453,594 (GRCm39)	E6G	possibly damaging	Het
Ncapg	A	G	5: 45,851,090 (GRCm39)		probably null	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Or4a69	A	G	2: 89,313,147 (GRCm39)	F111L	probably benign	Het
Or52d1	T	C	7: 103,755,812 (GRCm39)	S109P	probably damaging	Het
Or5b94	C	A	19: 12,652,224 (GRCm39)	F218L	probably benign	Het
Osbp2	A	C	11: 3,661,791 (GRCm39)	S754A	probably benign	Het
Pard3	C	T	8: 128,125,147 (GRCm39)	R712C	probably damaging	Het
Parp9	T	C	16: 35,768,711 (GRCm39)	I64T	probably damaging	Het
Pcm1	T	A	8: 41,710,974 (GRCm39)	H81Q	possibly damaging	Het
Pcnt	G	A	10: 76,225,030 (GRCm39)	P1825S	probably benign	Het
Pfkfb4	T	C	9: 108,827,957 (GRCm39)	V43A	probably benign	Het
Pgap1	A	T	1: 54,533,984 (GRCm39)	V643E	probably damaging	Het
Pip5k1a	T	C	3: 94,972,753 (GRCm39)	T433A	probably benign	Het
Pip5k1b	T	A	19: 24,356,411 (GRCm39)	M176L	probably benign	Het
Polg2	T	C	11: 106,667,958 (GRCm39)		probably benign	Het
Ppfia4	A	T	1: 134,251,955 (GRCm39)		probably null	Het
Prdx2	G	A	8: 85,696,880 (GRCm39)	G4S	probably benign	Het
Rbm28	C	T	6: 29,160,104 (GRCm39)	G70D	probably benign	Het
Rdh10	T	A	1: 16,176,489 (GRCm39)	I83N	probably damaging	Het
Rin3	A	G	12: 102,279,340 (GRCm39)	I50V	possibly damaging	Het
Rnf122	T	C	8: 31,614,877 (GRCm39)		probably benign	Het
Sik2	A	G	9: 50,810,775 (GRCm39)	M447T	possibly damaging	Het
Sla2	A	G	2: 156,725,507 (GRCm39)		probably null	Het
Slc51a	T	A	16: 32,296,425 (GRCm39)	I192L	probably benign	Het
Sorcs1	T	C	19: 50,367,329 (GRCm39)		probably benign	Het
Spata16	T	A	3: 26,967,416 (GRCm39)	F389I	probably damaging	Het
Srebf1	G	A	11: 60,092,630 (GRCm39)	A793V	probably benign	Het
Tbc1d9b	T	C	11: 50,049,261 (GRCm39)	V736A	probably benign	Het
Tbx15	C	A	3: 99,259,182 (GRCm39)	T351N	possibly damaging	Het
Tep1	A	G	14: 51,089,373 (GRCm39)		probably null	Het
Tmed11	T	A	5: 108,925,278 (GRCm39)	D178V	probably damaging	Het
Traf7	A	G	17: 24,732,900 (GRCm39)	F110L	probably benign	Het
Ubqlnl	C	T	7: 103,799,399 (GRCm39)	V33M	probably damaging	Het
Vcan	A	T	13: 89,826,192 (GRCm39)		probably null	Het
Vmn1r194	A	G	13: 22,429,217 (GRCm39)	Y278C	probably damaging	Het
Vmn1r46	T	C	6: 89,954,044 (GRCm39)	F298L	probably benign	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het
Wdr48	G	A	9: 119,747,634 (GRCm39)		probably benign	Het
Wwp1	G	A	4: 19,641,725 (GRCm39)		probably benign	Het
Zfp1001	A	T	2: 150,165,761 (GRCm39)		probably benign	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp839	G	A	12: 110,827,308 (GRCm39)	E400K	possibly damaging	Het

Other mutations in Pomp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Pomp	APN	5	147,797,491 (GRCm39)	utr 5 prime	probably benign
PIT4810001:Pomp	UTSW	5	147,806,229 (GRCm39)	missense	probably benign	0.00
R4431:Pomp	UTSW	5	147,812,289 (GRCm39)	missense	probably damaging	1.00
R6897:Pomp	UTSW	5	147,812,313 (GRCm39)	missense	possibly damaging	0.83

Posted On

2013-03-25