Mutagenetix > Incidental Mutations

Incidental Mutation 'R5964:Pum3'

471990

Institutional Source

Beutler Lab

Gene Symbol

Pum3

Ensembl Gene

ENSMUSG00000041360

Gene Name

pumilio RNA-binding family member 3

Synonyms

1110069H02Rik, D19Bwg1357e

MMRRC Submission

044149-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27388702-27429820 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27420051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 308 (E308G)

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: E308G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: E308G

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

0.1220

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,343,567	Q581*	probably null	Het
Agl	A	G	3: 116,793,774	V44A	probably damaging	Het
Alpk3	T	A	7: 81,092,260	D608E	possibly damaging	Het
Aspm	C	A	1: 139,455,227		probably benign	Het
Bbs2	T	C	8: 94,068,367	N692S	probably benign	Het
Bend4	A	G	5: 67,417,818	I240T	probably benign	Het
Casp8	G	T	1: 58,833,736	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,900,940	I123N	probably damaging	Het
Ccr9	T	G	9: 123,779,434	I60M	probably benign	Het
Cd163	T	A	6: 124,326,572	W1066R	probably benign	Het
Cd226	A	T	18: 89,207,183	H68L	probably benign	Het
Cdkn3	T	A	14: 46,767,217	C79S	probably null	Het
Cnnm1	A	T	19: 43,469,723	E658V	probably benign	Het
Cog7	T	C	7: 121,956,029	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,365,760	V286E	possibly damaging	Het
Creg2	C	A	1: 39,624,954	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,699,962	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,926,223	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,788,467	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,164,089	V744A	probably benign	Het
Dlgap2	T	A	8: 14,727,128	Y124*	probably null	Het
Dnah3	T	C	7: 119,922,880	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,584	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,023,699	V347D	probably benign	Het
Gigyf2	C	T	1: 87,407,167	T294M	probably damaging	Het
Gli3	C	G	13: 15,726,162	S1378*	probably null	Het
Gm884	A	G	11: 103,542,120	S1232P	possibly damaging	Het
Gnao1	G	A	8: 93,966,999	D337N	probably benign	Het
Gp2	T	A	7: 119,449,129	Q422L	probably benign	Het
Ifit1	T	A	19: 34,648,469	M335K	possibly damaging	Het
Ism1	T	C	2: 139,678,757	S30P	probably benign	Het
Itgax	A	G	7: 128,140,447	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,725,922	A442V	probably damaging	Het
Kif13a	T	C	13: 46,771,524	I311M	probably damaging	Het
Lsm14b	T	A	2: 180,031,425	S84R	probably benign	Het
Lzts3	A	G	2: 130,636,288	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,644,762	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,165	N501I	probably damaging	Het
Mctp2	T	C	7: 72,103,177	E776G	probably damaging	Het
Mex3d	A	T	10: 80,382,587	N265K	probably damaging	Het
Myo5a	A	G	9: 75,203,833	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,704,636	M35V	probably damaging	Het
Nek4	G	A	14: 30,957,079		probably null	Het
Ngrn	T	C	7: 80,261,933		probably null	Het
Nlrp1a	T	A	11: 71,123,020	Q468L	probably benign	Het
Olfr1450	A	C	19: 12,954,531	Q314P	probably benign	Het
Olfr743	T	A	14: 50,534,198	M262K	probably damaging	Het
Phtf2	T	C	5: 20,775,934	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852	Q140*	probably null	Het
Prtg	G	A	9: 72,892,254	G778E	probably benign	Het
Pwp1	T	G	10: 85,882,886	F306V	probably damaging	Het
Rab24	A	T	13: 55,321,576	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,135,898	F126L	probably benign	Het
Samd13	A	T	3: 146,680,696		probably benign	Het
Serac1	T	A	17: 6,065,049	H213L	probably benign	Het
Slc45a3	A	G	1: 131,978,073	E278G	probably damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slx4	A	T	16: 4,000,951		probably null	Het
Smarca4	C	A	9: 21,647,430	T631K	probably benign	Het
Snx16	C	T	3: 10,434,481	R163Q	possibly damaging	Het
Stk40	T	C	4: 126,128,895	V140A	probably damaging	Het
Tcf12	A	T	9: 71,868,240	D409E	probably damaging	Het
Tgfbr2	G	T	9: 116,110,255	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,271,703	H131N	probably damaging	Het
Ttn	C	A	2: 76,829,888	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,713,511	E31298*	probably null	Het
Usp7	A	G	16: 8,712,102	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,654,180	R191*	probably null	Het
Wdfy4	T	C	14: 33,106,011	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,336,845	P3A	probably damaging	Het
Znhit6	A	G	3: 145,576,933	K21R	possibly damaging	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
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
R9042:Pum3	UTSW	19	27422391	missense	probably damaging	1.00
R9401:Pum3	UTSW	19	27398936	missense	probably benign
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'- CCTGCATCAAGAATGGTTTCAAAC -3'
(R):5'- GGAGTCGGATTCTGAAGAGTAATC -3'

Sequencing Primer
(F):5'- GATGTGGCTCCCTCAAAT -3'
(R):5'- GATCACATTTGGAGGCGTT -3'

Posted On

2017-03-31