Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03036:Pum3'

408681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pum3

Ensembl Gene

ENSMUSG00000041360

Gene Name

pumilio RNA-binding family member 3

Synonyms

1110069H02Rik, D19Bwg1357e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL03036

Quality Score

Status

Chromosome

Chromosomal Location

27366098-27407225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27398713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 279 (T279M)

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: T279M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075573
Gene: ENSMUSG00000041360
AA Change: T279M

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	A	T	10: 80,421,534 (GRCm39)	Y145*	probably null	Het
Afdn	T	G	17: 14,108,350 (GRCm39)	I1291S	probably benign	Het
Arfgap3	T	G	15: 83,191,127 (GRCm39)	I16L	possibly damaging	Het
Bbs12	T	A	3: 37,373,343 (GRCm39)	H45Q	possibly damaging	Het
Brpf3	T	C	17: 29,043,022 (GRCm39)	L1021P	possibly damaging	Het
Cep170	A	G	1: 176,596,903 (GRCm39)	S485P	possibly damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Chst3	A	T	10: 60,022,261 (GRCm39)	Y195*	probably null	Het
Clmn	T	C	12: 104,740,782 (GRCm39)	Y125C	probably damaging	Het
Col13a1	A	G	10: 61,729,692 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,002,348 (GRCm39)	I688N	probably damaging	Het
Cpn2	A	T	16: 30,079,647 (GRCm39)	L18H	probably benign	Het
Crybg3	T	A	16: 59,375,542 (GRCm39)	H1904L	possibly damaging	Het
Csde1	C	T	3: 102,951,155 (GRCm39)	P249S	probably damaging	Het
Dcaf1	T	C	9: 106,721,339 (GRCm39)	L377P	probably damaging	Het
Dmwd	A	T	7: 18,815,054 (GRCm39)	K568M	probably damaging	Het
Dsg2	T	C	18: 20,712,134 (GRCm39)	I90T	probably damaging	Het
Dytn	A	G	1: 63,680,281 (GRCm39)	I426T	probably damaging	Het
Edc4	G	A	8: 106,613,943 (GRCm39)		probably null	Het
Elac1	G	T	18: 73,871,985 (GRCm39)	Q337K	probably benign	Het
Exd2	G	T	12: 80,536,185 (GRCm39)	A272S	probably damaging	Het
F13b	A	G	1: 139,435,853 (GRCm39)	I220V	possibly damaging	Het
Fblim1	G	T	4: 141,310,435 (GRCm39)	R276S	possibly damaging	Het
Fn1	A	C	1: 71,668,932 (GRCm39)	L671R	probably damaging	Het
Frem1	A	T	4: 82,877,576 (GRCm39)	F1334I	possibly damaging	Het
H2-T23	T	A	17: 36,343,249 (GRCm39)	I43F	possibly damaging	Het
Hp1bp3	G	A	4: 137,956,043 (GRCm39)	G202D	probably damaging	Het
Kdm5b	A	G	1: 134,536,675 (GRCm39)	M632V	probably damaging	Het
Klra5	T	A	6: 129,885,830 (GRCm39)	S20C	probably damaging	Het
Lancl1	A	T	1: 67,046,074 (GRCm39)	C276S	probably damaging	Het
Lect2	A	G	13: 56,690,520 (GRCm39)	*152Q	probably null	Het
Maff	C	A	15: 79,241,658 (GRCm39)	S25*	probably null	Het
Mtr	A	G	13: 12,262,263 (GRCm39)	L171P	probably damaging	Het
Ndufs1	A	T	1: 63,202,855 (GRCm39)	Y236*	probably null	Het
Neb	A	C	2: 52,134,165 (GRCm39)	Y3273D	probably damaging	Het
Nup133	A	T	8: 124,673,333 (GRCm39)	I66K	probably benign	Het
Or4c110	T	C	2: 88,832,459 (GRCm39)	M58V	possibly damaging	Het
Psmd14	A	G	2: 61,614,205 (GRCm39)	Y200C	probably damaging	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Ptk2b	T	A	14: 66,411,344 (GRCm39)		probably benign	Het
Rabl6	C	T	2: 25,474,868 (GRCm39)	G614D	probably benign	Het
Ripk3	T	C	14: 56,024,796 (GRCm39)	D128G	probably benign	Het
Serinc4	A	T	2: 121,270,039 (GRCm39)		probably benign	Het
Slco1a8	T	G	6: 141,954,333 (GRCm39)	I47L	possibly damaging	Het
Sorbs2	T	C	8: 46,235,902 (GRCm39)	S322P	probably benign	Het
Spmap2l	A	C	5: 77,164,197 (GRCm39)	K67Q	possibly damaging	Het
Srebf1	A	T	11: 60,111,284 (GRCm39)	I29N	possibly damaging	Het
Stk38l	T	C	6: 146,670,372 (GRCm39)	L238S	probably damaging	Het
Supt20	T	A	3: 54,616,723 (GRCm39)	C298*	probably null	Het
Tbc1d19	A	G	5: 54,054,389 (GRCm39)	D459G	probably damaging	Het
Ulk2	A	T	11: 61,725,660 (GRCm39)	L139M	probably damaging	Het
Unc13b	A	G	4: 43,235,249 (GRCm39)	N3279S	probably damaging	Het
Ush2a	A	G	1: 188,596,818 (GRCm39)	R3853G	possibly damaging	Het
Usp7	C	T	16: 8,556,078 (GRCm39)	M24I	probably benign	Het
Vil1	A	G	1: 74,458,771 (GRCm39)	T131A	probably damaging	Het
Vmn2r2	C	T	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Vmn2r74	A	T	7: 85,601,900 (GRCm39)	Y579*	probably null	Het
Zdhhc3	A	T	9: 122,929,582 (GRCm39)	Y18N	probably damaging	Het
Zfp609	C	T	9: 65,609,927 (GRCm39)	S1012N	possibly damaging	Het
Zfr2	A	T	10: 81,077,985 (GRCm39)	M271L	probably benign	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
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
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

Posted On

2016-08-02