Mutagenetix > Incidental Mutation

Incidental Mutation 'R5473:Pum3'

433957

Institutional Source

Beutler Lab

Gene Symbol

Pum3

Ensembl Gene

ENSMUSG00000041360

Gene Name

pumilio RNA-binding family member 3

Synonyms

1110069H02Rik, D19Bwg1357e

MMRRC Submission

043034-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27366098-27407225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27396248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 328 (V328F)

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: V328F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: V328F

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

0.6467

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (66/66)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	C	7: 119,312,173 (GRCm39)	Y549H	probably damaging	Het
Adamtsl4	G	T	3: 95,587,303 (GRCm39)	Q758K	probably damaging	Het
Anapc1	G	T	2: 128,449,115 (GRCm39)		probably benign	Het
Ankrd26	A	T	6: 118,492,797 (GRCm39)	C1316S	probably benign	Het
Birc5	T	C	11: 117,743,533 (GRCm39)	V89A	possibly damaging	Het
Camk2d	G	T	3: 126,391,048 (GRCm39)		probably benign	Het
Ccdc47	A	T	11: 106,095,855 (GRCm39)	S280R	probably damaging	Het
Cntnap5a	T	A	1: 116,016,986 (GRCm39)	F193Y	probably benign	Het
Cntrob	G	T	11: 69,213,579 (GRCm39)	D70E	possibly damaging	Het
Col24a1	A	C	3: 145,243,016 (GRCm39)	M1519L	probably benign	Het
Col2a1	G	T	15: 97,885,370 (GRCm39)	A491D	unknown	Het
Crat	A	G	2: 30,297,726 (GRCm39)	L266P	probably damaging	Het
Dlgap1	A	T	17: 70,824,025 (GRCm39)		probably benign	Het
Dnaaf10	T	C	11: 17,174,591 (GRCm39)	V153A	probably damaging	Het
Eya4	T	A	10: 23,039,351 (GRCm39)	H104L	probably benign	Het
Fam83b	T	C	9: 76,398,782 (GRCm39)	K774E	probably damaging	Het
Fgd6	T	C	10: 93,880,538 (GRCm39)	I464T	probably benign	Het
Gorasp2	A	C	2: 70,508,950 (GRCm39)	M123L	probably damaging	Het
H2-M10.3	A	T	17: 36,678,261 (GRCm39)	V188E	probably damaging	Het
Hnrnpk	A	T	13: 58,541,913 (GRCm39)	W333R	probably damaging	Het
Hrh4	T	C	18: 13,154,985 (GRCm39)	Y175H	probably benign	Het
Igf2r	G	T	17: 12,914,201 (GRCm39)	T1756K	probably benign	Het
Kcnq5	A	G	1: 21,527,626 (GRCm39)		probably null	Het
Kiz	G	T	2: 146,811,915 (GRCm39)	E675*	probably null	Het
Mcm3ap	T	G	10: 76,338,593 (GRCm39)	L1407R	probably damaging	Het
Mdc1	A	G	17: 36,158,952 (GRCm39)	D444G	probably benign	Het
Myl3	C	A	9: 110,597,026 (GRCm39)	H129N	probably damaging	Het
Neo1	T	C	9: 58,788,126 (GRCm39)	N1309S	possibly damaging	Het
Nrxn1	A	T	17: 90,897,520 (GRCm39)	Y269N	probably damaging	Het
Nsd1	A	G	13: 55,395,585 (GRCm39)	N1165S	probably damaging	Het
Nuf2	T	C	1: 169,334,856 (GRCm39)	D302G	probably benign	Het
Olfr908	A	G	9: 38,427,508 (GRCm39)	Y60C	probably damaging	Het
Or10j3	G	C	1: 173,031,732 (GRCm39)	G270R	probably benign	Het
Or14j1	T	C	17: 38,146,630 (GRCm39)	F247L	probably benign	Het
Or5d38	A	T	2: 87,954,981 (GRCm39)	M116K	possibly damaging	Het
Oxsm	A	T	14: 16,242,045 (GRCm38)	S241R	probably damaging	Het
Pde1a	G	T	2: 79,736,372 (GRCm39)	S87R	probably damaging	Het
Plagl2	A	T	2: 153,074,114 (GRCm39)	C262*	probably null	Het
Plcg2	A	G	8: 118,361,140 (GRCm39)	K1233R	probably benign	Het
Pon3	A	T	6: 5,256,177 (GRCm39)	I17K	possibly damaging	Het
Ppfia1	A	T	7: 144,045,229 (GRCm39)	M951K	probably benign	Het
Pramel12	A	G	4: 143,145,874 (GRCm39)	R448G	probably damaging	Het
Prpf31	A	G	7: 3,642,824 (GRCm39)	K438E	probably benign	Het
Ralgapa1	T	C	12: 55,723,495 (GRCm39)	E1677G	probably benign	Het
Rpf2	A	G	10: 40,103,627 (GRCm39)	V96A	possibly damaging	Het
Rsrc2	C	T	5: 123,869,150 (GRCm39)	A98T	probably damaging	Het
Saraf	G	A	8: 34,628,412 (GRCm39)	R86Q	probably damaging	Het
Scara5	T	A	14: 65,977,788 (GRCm39)	D349E	possibly damaging	Het
Slc30a1	T	C	1: 191,641,734 (GRCm39)	V460A	possibly damaging	Het
Tdrd7	G	T	4: 46,020,877 (GRCm39)	V768L	possibly damaging	Het
Tshz2	T	C	2: 169,725,718 (GRCm39)	S105P	probably benign	Het
Ufsp2	A	G	8: 46,445,258 (GRCm39)	I362M	probably damaging	Het
Ugt1a7c	T	A	1: 88,023,159 (GRCm39)	I106K	probably benign	Het
Zdhhc5	A	G	2: 84,520,810 (GRCm39)	Y456H	probably damaging	Het

Other mutations in Pum3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00795:Pum3	APN	19	27,399,758 (GRCm39)	missense	probably damaging	0.96
IGL02368:Pum3	APN	19	27,403,357 (GRCm39)	missense	probably benign	0.00
IGL03036:Pum3	APN	19	27,398,713 (GRCm39)	missense	probably damaging	0.96
IGL03177:Pum3	APN	19	27,367,612 (GRCm39)	missense	probably benign	0.29
R0242:Pum3	UTSW	19	27,400,155 (GRCm39)	splice site	probably benign
R1480:Pum3	UTSW	19	27,376,310 (GRCm39)	missense	probably benign	0.04
R2860:Pum3	UTSW	19	27,397,525 (GRCm39)	splice site	probably benign
R4417:Pum3	UTSW	19	27,400,116 (GRCm39)	missense	probably damaging	0.99
R4576:Pum3	UTSW	19	27,393,308 (GRCm39)	missense	probably benign	0.32
R5145:Pum3	UTSW	19	27,377,169 (GRCm39)	missense	probably damaging	1.00
R5439:Pum3	UTSW	19	27,389,659 (GRCm39)	missense	probably benign	0.27
R5733:Pum3	UTSW	19	27,398,695 (GRCm39)	critical splice donor site	probably null
R5964:Pum3	UTSW	19	27,397,451 (GRCm39)	missense	probably damaging	0.96
R6516:Pum3	UTSW	19	27,403,408 (GRCm39)	missense	probably benign
R7184:Pum3	UTSW	19	27,403,412 (GRCm39)	missense	probably benign	0.03
R7216:Pum3	UTSW	19	27,401,625 (GRCm39)	missense	probably damaging	1.00
R7376:Pum3	UTSW	19	27,371,728 (GRCm39)	missense	probably benign	0.00
R7390:Pum3	UTSW	19	27,401,642 (GRCm39)	missense	probably benign	0.11
R7761:Pum3	UTSW	19	27,404,492 (GRCm39)	missense	probably benign
R7881:Pum3	UTSW	19	27,373,728 (GRCm39)	nonsense	probably null
R7991:Pum3	UTSW	19	27,389,620 (GRCm39)	missense	possibly damaging	0.93
R8300:Pum3	UTSW	19	27,399,773 (GRCm39)	missense	probably benign	0.03
R8790:Pum3	UTSW	19	27,394,199 (GRCm39)	missense	probably damaging	1.00
R8847:Pum3	UTSW	19	27,398,713 (GRCm39)	missense	probably damaging	0.96
R8903:Pum3	UTSW	19	27,397,457 (GRCm39)	missense	possibly damaging	0.48
R9042:Pum3	UTSW	19	27,399,791 (GRCm39)	missense	probably damaging	1.00
R9401:Pum3	UTSW	19	27,376,336 (GRCm39)	missense	probably benign
R9488:Pum3	UTSW	19	27,394,188 (GRCm39)	missense	probably damaging	1.00
R9645:Pum3	UTSW	19	27,403,412 (GRCm39)	missense	probably benign	0.03
X0009:Pum3	UTSW	19	27,400,102 (GRCm39)	nonsense	probably null
X0063:Pum3	UTSW	19	27,403,194 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTAAAGGATTGCGGGCATCAG -3'
(R):5'- GATGAAAACAAGTGTCACAGGCTC -3'

Sequencing Primer
(F):5'- TTGCGGGCATCAGAGCAG -3'
(R):5'- GTGTCACAGGCTCAAATTATTTAACC -3'

Posted On

2016-10-06