Mutagenetix > Incidental Mutation

Incidental Mutation 'R9042:Pum3'

687807

Institutional Source

Beutler Lab

Gene Symbol

Pum3

Ensembl Gene

ENSMUSG00000041360

Gene Name

pumilio RNA-binding family member 3

Synonyms

1110069H02Rik, D19Bwg1357e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27388702-27429820 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27422391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 214 (Y214F)

Ref Sequence

ENSEMBL: ENSMUSP00000075573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076219]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000076219
AA Change: Y214F

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

SMART Domains

Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: Y214F

Domain	Start	End	E-Value	Type
low complexity region	106	121	N/A	INTRINSIC
Pumilio	165	200	1.8e-3	SMART
Pumilio	201	236	1.36e-3	SMART
Pumilio	237	273	3.72e0	SMART
Pumilio	350	385	2.54e-3	SMART
Pumilio	386	422	7.89e0	SMART
Pumilio	424	460	5.5e0	SMART

Meta Mutation Damage Score

0.5011

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: This gene encodes a member of the evolutionarily conserved Pumilio and Fem-3 mRNA-binding factor family of proteins, which are characterized by tandem 36 amino acid pumilio homolog domains and which function in diverse biological processes. This protein belongs to a group of atypical Pumilio and Fem-3 mRNA-binding factor proteins, whose members are distinguished from other Pumilio and Fem-3 mRNA-binding factor proteins by a novel protein fold with 11 pumilio homolog domains and an ability to bind to DNA and single- and double-stranded RNA without sequence specificity. In mouse, lower levels of gene expression have been correlated with increased testicular germ cell tumors. A pseudogene of this gene is found on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,287,351	I3275T	probably benign	Het
Adamts12	A	G	15: 11,152,048	K208R	probably benign	Het
Amh	T	C	10: 80,806,609	M242T	possibly damaging	Het
Anpep	T	C	7: 79,838,762	Y440C	probably damaging	Het
Atf7ip	G	T	6: 136,561,265	E499*	probably null	Het
Clasp2	A	G	9: 113,905,997	I967V	probably benign	Het
Cpa6	T	C	1: 10,337,290	T341A	probably benign	Het
Cyp26b1	T	A	6: 84,576,608	Y263F	probably benign	Het
Ecm2	C	A	13: 49,528,963	Y489*	probably null	Het
Gm597	T	C	1: 28,776,956	Q665R	possibly damaging	Het
Gpr22	C	A	12: 31,709,854	V90L	probably benign	Het
Grip1	G	A	10: 120,000,533	V516M	probably benign	Het
Ipo5	C	T	14: 120,923,135	S188L	probably benign	Het
Kcnh6	T	A	11: 106,017,638	I360N	possibly damaging	Het
Lrp1b	C	A	2: 41,502,017	D512Y		Het
Lrpprc	C	T	17: 84,752,308		probably null	Het
Lta4h	A	G	10: 93,482,988	K547R	probably benign	Het
Nacad	G	C	11: 6,598,948	P1340R	possibly damaging	Het
Ncapd2	T	C	6: 125,179,338	K495E	probably benign	Het
Ndufaf7	A	T	17: 78,938,539		probably null	Het
Nsrp1	A	G	11: 77,050,651	V77A	probably benign	Het
Olfr1087	T	C	2: 86,690,795	Y60C	probably damaging	Het
Olfr161	A	T	16: 3,593,268	S291C	probably damaging	Het
P2ry12	A	G	3: 59,218,035	V73A	probably damaging	Het
Pafah1b1	G	A	11: 74,683,667	T231I	probably benign	Het
Parp11	C	A	6: 127,471,652	Y77*	probably null	Het
Phc3	T	A	3: 30,929,767	T712S	unknown	Het
Pkm	T	A	9: 59,671,937	I335N	probably damaging	Het
Pmpca	A	G	2: 26,393,569	T417A	probably benign	Het
Pot1b	C	T	17: 55,699,991		probably null	Het
Prrc1	T	A	18: 57,374,692		probably null	Het
Psg18	A	T	7: 18,349,122	N369K	probably benign	Het
Reln	G	A	5: 22,048,038	T637M	probably damaging	Het
Rpe65	A	T	3: 159,615,655	Y368F	probably damaging	Het
Serpina3a	A	G	12: 104,116,103	D45G	probably benign	Het
Serpinb3c	T	A	1: 107,272,001	L263F	probably damaging	Het
Slc25a23	C	T	17: 57,045,553	V444I	probably damaging	Het
Slc40a1	C	T	1: 45,909,461	G553D	probably benign	Het
Taf7	C	A	18: 37,643,170	D115Y	probably damaging	Het
Tanc1	G	C	2: 59,843,422	A1624P	probably benign	Het
Tmed4	T	C	11: 6,274,405	D85G	probably benign	Het
Tmed6	A	G	8: 107,063,753	V138A	probably benign	Het
Tmem63b	T	C	17: 45,666,591	T370A	probably benign	Het
Ttc38	A	G	15: 85,836,109	T91A	probably benign	Het
Ube4b	C	G	4: 149,360,376	A476P	probably benign	Het
Vmn2r53	A	G	7: 12,581,508	C795R	probably benign	Het

Other mutations in Pum3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00795:Pum3	APN	19	27422358	missense	probably damaging	0.96
IGL02368:Pum3	APN	19	27425957	missense	probably benign	0.00
IGL03036:Pum3	APN	19	27421313	missense	probably damaging	0.96
IGL03177:Pum3	APN	19	27390212	missense	probably benign	0.29
R0242:Pum3	UTSW	19	27422755	splice site	probably benign
R1480:Pum3	UTSW	19	27398910	missense	probably benign	0.04
R2860:Pum3	UTSW	19	27420125	splice site	probably benign
R4417:Pum3	UTSW	19	27422716	missense	probably damaging	0.99
R4576:Pum3	UTSW	19	27415908	missense	probably benign	0.32
R5145:Pum3	UTSW	19	27399769	missense	probably damaging	1.00
R5439:Pum3	UTSW	19	27412259	missense	probably benign	0.27
R5473:Pum3	UTSW	19	27418848	missense	probably damaging	0.99
R5733:Pum3	UTSW	19	27421295	critical splice donor site	probably null
R5964:Pum3	UTSW	19	27420051	missense	probably damaging	0.96
R6516:Pum3	UTSW	19	27426008	missense	probably benign
R7184:Pum3	UTSW	19	27426012	missense	probably benign	0.03
R7216:Pum3	UTSW	19	27424225	missense	probably damaging	1.00
R7376:Pum3	UTSW	19	27394328	missense	probably benign	0.00
R7390:Pum3	UTSW	19	27424242	missense	probably benign	0.11
R7761:Pum3	UTSW	19	27427092	missense	probably benign
R7881:Pum3	UTSW	19	27396328	nonsense	probably null
R7991:Pum3	UTSW	19	27412220	missense	possibly damaging	0.93
R8300:Pum3	UTSW	19	27422373	missense	probably benign	0.03
R8790:Pum3	UTSW	19	27416799	missense	probably damaging	1.00
R8847:Pum3	UTSW	19	27421313	missense	probably damaging	0.96
R8903:Pum3	UTSW	19	27420057	missense	possibly damaging	0.48
R9401:Pum3	UTSW	19	27398936	missense	probably benign
R9488:Pum3	UTSW	19	27416788	missense	probably damaging	1.00
R9645:Pum3	UTSW	19	27426012	missense	probably benign	0.03
X0009:Pum3	UTSW	19	27422702	nonsense	probably null
X0063:Pum3	UTSW	19	27425794	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTCCTTAACAACAGAGAAGGCAGC -3'
(R):5'- TGCTCCATGCTTTCTGAGGG -3'

Sequencing Primer
(F):5'- CCATTTTAAGATGTTATGCCCTAGG -3'
(R):5'- CCATGCTTTCTGAGGGATGATTTTTG -3'

Posted On

2021-11-19