Mutagenetix > Incidental Mutation

Incidental Mutation 'R9401:Pum3'

711258

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: 0.957) question?

Stock #

R9401 (G1)

Quality Score

212.009

Status

Not validated

Chromosome

Chromosomal Location

27366098-27407225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27376336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 527 (D527E)

Ref Sequence

ENSEMBL: ENSMUSP00000075573 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076219
AA Change: D527E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: D527E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,785 (GRCm39)	D850G	probably benign	Het
Abcc9	T	A	6: 142,543,836 (GRCm39)	T1480S	possibly damaging	Het
Adgrb3	C	A	1: 25,592,783 (GRCm39)	V335F	probably damaging	Het
Agfg1	C	A	1: 82,859,958 (GRCm39)	A275D	probably benign	Het
Alms1	T	A	6: 85,655,001 (GRCm39)	C2713*	probably null	Het
Atp8a1	G	A	5: 67,906,492 (GRCm39)	A474V		Het
Baz1a	C	A	12: 54,963,339 (GRCm39)	S918I	probably damaging	Het
Bcl2l12	G	T	7: 44,643,674 (GRCm39)	T120K	possibly damaging	Het
Bcl6	G	T	16: 23,791,107 (GRCm39)	Q416K	possibly damaging	Het
Cdhr1	T	A	14: 36,820,055 (GRCm39)	I16F	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cilp	T	C	9: 65,185,381 (GRCm39)	V492A	probably damaging	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Crppa	T	C	12: 36,552,073 (GRCm39)	V309A	probably benign	Het
Ctcfl	T	G	2: 172,947,881 (GRCm39)	T479P	probably damaging	Het
Dlx6	A	C	6: 6,863,581 (GRCm39)	M68L	probably benign	Het
Dnah7a	C	A	1: 53,568,026 (GRCm39)	V1857F	probably benign	Het
Dpy19l4	A	G	4: 11,265,806 (GRCm39)	V714A	probably benign	Het
Elovl7	T	A	13: 108,419,188 (GRCm39)	N273K	probably benign	Het
Fbxo22	A	G	9: 55,130,628 (GRCm39)	K299R	probably benign	Het
Fig4	A	G	10: 41,143,733 (GRCm39)	V242A	probably benign	Het
Fmo9	A	T	1: 166,505,189 (GRCm39)	M68K	probably damaging	Het
Fry	T	A	5: 150,302,403 (GRCm39)	Y537N	probably damaging	Het
Fryl	C	T	5: 73,222,563 (GRCm39)	W2006*	probably null	Het
Fzd8	T	A	18: 9,213,205 (GRCm39)	C96S	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,050,535 (GRCm39)	D272G	possibly damaging	Het
Gzmf	A	T	14: 56,448,813 (GRCm39)	M1K	probably null	Het
Hipk1	T	C	3: 103,685,295 (GRCm39)	T107A	probably benign	Het
Hsd3b9	T	G	3: 98,363,819 (GRCm39)	T9P	probably damaging	Het
Ighe	C	T	12: 113,233,107 (GRCm39)	C438Y		Het
Igkv4-50	T	A	6: 69,677,967 (GRCm39)	R46W		Het
Igsf3	T	A	3: 101,333,075 (GRCm39)	Y118N	probably damaging	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Jph3	A	G	8: 122,511,854 (GRCm39)	E614G	probably damaging	Het
Klk1b8	T	A	7: 43,603,674 (GRCm39)	D170E	probably benign	Het
Ly6e	A	T	15: 74,830,153 (GRCm39)	K36*	probably null	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Med13l	T	A	5: 118,883,089 (GRCm39)	M1316K	probably benign	Het
Or5c1	T	C	2: 37,222,293 (GRCm39)	V178A	possibly damaging	Het
Or6c76b	A	G	10: 129,693,298 (GRCm39)	R304G	probably benign	Het
Or8u3-ps	A	T	2: 85,952,368 (GRCm39)	I34F	possibly damaging	Het
Pih1d2	T	A	9: 50,529,905 (GRCm39)	C45S	probably damaging	Het
Pik3r2	G	A	8: 71,223,737 (GRCm39)	S318L	possibly damaging	Het
Pknox1	T	C	17: 31,802,752 (GRCm39)	I9T	probably benign	Het
Pknox2	T	C	9: 36,835,041 (GRCm39)	I143V	probably damaging	Het
Polr1d	A	G	5: 147,015,488 (GRCm39)	Y57C	probably damaging	Het
Rars2	T	A	4: 34,654,819 (GRCm39)	H374Q	probably damaging	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rbl1	T	A	2: 157,016,742 (GRCm39)	H619L	possibly damaging	Het
Scamp4	T	C	10: 80,448,238 (GRCm39)	V153A	probably benign	Het
Sec23b	T	G	2: 144,420,286 (GRCm39)	I450S	probably benign	Het
Slc35b2	A	G	17: 45,877,910 (GRCm39)	I297V	probably benign	Het
Slc4a4	C	T	5: 89,327,525 (GRCm39)	T654I	probably damaging	Het
Slc6a5	T	A	7: 49,601,185 (GRCm39)	M662K	probably damaging	Het
Smarcad1	T	C	6: 65,071,321 (GRCm39)	Y589H	probably benign	Het
Spata31d1e	T	C	13: 59,890,012 (GRCm39)	T603A	probably benign	Het
Stab1	A	T	14: 30,883,069 (GRCm39)	F374I	probably benign	Het
Stat5a	C	T	11: 100,756,254 (GRCm39)	T158M	possibly damaging	Het
Trpc3	A	T	3: 36,675,503 (GRCm39)	Y878*	probably null	Het
Ubr1	T	A	2: 120,765,765 (GRCm39)	T491S	probably benign	Het
Uggt1	C	T	1: 36,255,212 (GRCm39)		probably null	Het
Ugt1a6a	T	A	1: 88,066,882 (GRCm39)	Y229*	probably null	Het
Vmn1r225	G	A	17: 20,722,911 (GRCm39)	W117*	probably null	Het
Vmn1r225	A	C	17: 20,722,912 (GRCm39)	K118Q	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r116	T	C	17: 23,620,566 (GRCm39)	S767P	probably damaging	Het
Wdr90	AGAC	AGACGAC	17: 26,064,750 (GRCm39)		probably benign	Het
Ythdf3	C	T	3: 16,258,659 (GRCm39)	P280S	probably damaging	Het
Zbbx	A	G	3: 75,019,390 (GRCm39)	S107P	probably benign	Het
Zdhhc7	A	T	8: 120,813,425 (GRCm39)	V128E	probably benign	Het
Zfp235	A	G	7: 23,841,551 (GRCm39)	S657G	probably damaging	Het
Zfp442	T	A	2: 150,251,615 (GRCm39)	I96F	possibly damaging	Het
Zfp84	G	A	7: 29,476,297 (GRCm39)	E330K	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
R5473:Pum3	UTSW	19	27,396,248 (GRCm39)	missense	probably damaging	0.99
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
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'- GTCATAGCACATGTCTGTAGGC -3'
(R):5'- AGAAGGACACTGCAATCCGC -3'

Sequencing Primer
(F):5'- TAGGCACTACAGGATCTCTGC -3'
(R):5'- CAATCCGCCGGCGTGAG -3'

Posted On

2022-05-16