Mutagenetix > Incidental Mutations

Incidental Mutation 'R5249:Pum1'

398760

Institutional Source

Beutler Lab

Gene Symbol

Pum1

Ensembl Gene

ENSMUSG00000028580

Gene Name

pumilio RNA-binding family member 1

Synonyms

Pumm

MMRRC Submission

042820-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130663321-130781564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130762814 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 699 (Y699F)

Ref Sequence

ENSEMBL: ENSMUSP00000101613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030315] [ENSMUST00000097862] [ENSMUST00000097864] [ENSMUST00000105991] [ENSMUST00000105992]

Predicted Effect

probably benign
Transcript: ENSMUST00000030315
AA Change: Y796F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: Y796F

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
low complexity region	94	102	N/A	INTRINSIC
low complexity region	393	414	N/A	INTRINSIC
low complexity region	443	458	N/A	INTRINSIC
low complexity region	476	503	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	584	615	N/A	INTRINSIC
low complexity region	627	637	N/A	INTRINSIC
low complexity region	643	666	N/A	INTRINSIC
low complexity region	672	696	N/A	INTRINSIC
low complexity region	731	741	N/A	INTRINSIC
low complexity region	763	783	N/A	INTRINSIC
low complexity region	798	816	N/A	INTRINSIC
Pumilio	849	884	1.75e-6	SMART
Pumilio	885	920	4.03e-6	SMART
Pumilio	921	955	5.24e-5	SMART
Pumilio	959	994	3.37e-8	SMART
Pumilio	995	1030	6.29e-8	SMART
Pumilio	1031	1066	1.04e-8	SMART
Pumilio	1067	1102	6.2e-7	SMART
Pumilio	1110	1145	8.77e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082550

Predicted Effect

probably benign
Transcript: ENSMUST00000097862
AA Change: Y795F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: Y795F

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
low complexity region	94	102	N/A	INTRINSIC
low complexity region	393	414	N/A	INTRINSIC
low complexity region	442	457	N/A	INTRINSIC
low complexity region	475	502	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
low complexity region	583	614	N/A	INTRINSIC
low complexity region	626	636	N/A	INTRINSIC
low complexity region	642	665	N/A	INTRINSIC
low complexity region	671	695	N/A	INTRINSIC
low complexity region	730	740	N/A	INTRINSIC
low complexity region	762	782	N/A	INTRINSIC
low complexity region	797	815	N/A	INTRINSIC
Pumilio	848	883	1.75e-6	SMART
Pumilio	884	919	4.03e-6	SMART
Pumilio	920	954	5.24e-5	SMART
Pumilio	958	993	3.37e-8	SMART
Pumilio	994	1029	6.29e-8	SMART
Pumilio	1030	1065	1.04e-8	SMART
Pumilio	1066	1101	6.2e-7	SMART
Pumilio	1109	1144	8.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097864
AA Change: Y795F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: Y795F

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
low complexity region	94	102	N/A	INTRINSIC
low complexity region	393	414	N/A	INTRINSIC
low complexity region	442	457	N/A	INTRINSIC
low complexity region	475	502	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
low complexity region	583	614	N/A	INTRINSIC
low complexity region	626	636	N/A	INTRINSIC
low complexity region	642	665	N/A	INTRINSIC
low complexity region	671	695	N/A	INTRINSIC
low complexity region	730	740	N/A	INTRINSIC
low complexity region	762	782	N/A	INTRINSIC
low complexity region	797	815	N/A	INTRINSIC
Pumilio	848	883	1.75e-6	SMART
Pumilio	884	919	4.03e-6	SMART
Pumilio	920	955	5.48e-8	SMART
Pumilio	956	991	3.37e-8	SMART
Pumilio	992	1027	6.29e-8	SMART
Pumilio	1028	1063	1.04e-8	SMART
Pumilio	1064	1099	6.2e-7	SMART
Pumilio	1107	1142	8.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105991
AA Change: Y553F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: Y553F

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
low complexity region	94	102	N/A	INTRINSIC
low complexity region	151	172	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	233	260	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
low complexity region	341	372	N/A	INTRINSIC
low complexity region	384	394	N/A	INTRINSIC
low complexity region	400	423	N/A	INTRINSIC
low complexity region	429	453	N/A	INTRINSIC
low complexity region	488	498	N/A	INTRINSIC
low complexity region	520	540	N/A	INTRINSIC
low complexity region	555	573	N/A	INTRINSIC
Pumilio	606	641	1.75e-6	SMART
Pumilio	642	677	4.03e-6	SMART
Pumilio	678	713	5.48e-8	SMART
Pumilio	714	749	3.37e-8	SMART
Pumilio	750	785	6.29e-8	SMART
Pumilio	786	821	1.04e-8	SMART
Pumilio	822	857	6.2e-7	SMART
Pumilio	865	900	8.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105992
AA Change: Y699F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: Y699F

Domain	Start	End	E-Value	Type
low complexity region	45	58	N/A	INTRINSIC
low complexity region	94	102	N/A	INTRINSIC
low complexity region	297	318	N/A	INTRINSIC
low complexity region	346	361	N/A	INTRINSIC
low complexity region	379	406	N/A	INTRINSIC
low complexity region	431	442	N/A	INTRINSIC
low complexity region	487	518	N/A	INTRINSIC
low complexity region	530	540	N/A	INTRINSIC
low complexity region	546	569	N/A	INTRINSIC
low complexity region	575	599	N/A	INTRINSIC
low complexity region	634	644	N/A	INTRINSIC
low complexity region	666	686	N/A	INTRINSIC
low complexity region	701	719	N/A	INTRINSIC
Pumilio	752	787	1.75e-6	SMART
Pumilio	788	823	4.03e-6	SMART
Pumilio	824	858	5.24e-5	SMART
Pumilio	862	897	3.37e-8	SMART
Pumilio	898	933	6.29e-8	SMART
Pumilio	934	969	1.04e-8	SMART
Pumilio	970	1005	6.2e-7	SMART
Pumilio	1013	1048	8.77e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154720

Meta Mutation Damage Score

0.1124

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased testes weight and size, decreased body weight, oligozoospermia, reduced male fertility, increased male germ cell apoptosis and small seminiferous tubules. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,575,483	*719Q	probably null	Het
2810403A07Rik	T	A	3: 88,696,725	I283N	probably damaging	Het
A4gnt	A	G	9: 99,620,231	H148R	probably damaging	Het
Acrbp	A	G	6: 125,060,922	D394G	probably damaging	Het
Adam18	T	C	8: 24,625,852	T609A	probably benign	Het
Adam25	T	A	8: 40,755,954	N752K	probably benign	Het
Ano6	A	C	15: 95,913,588	S176R	probably benign	Het
Ano7	T	C	1: 93,375,196	S19P	probably benign	Het
Ap1b1	A	G	11: 5,026,364	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,265,637	C46*	probably null	Het
Arhgef26	T	A	3: 62,340,560	L355Q	probably damaging	Het
B4galnt4	C	T	7: 141,065,070	T219I	probably damaging	Het
Bap1	C	T	14: 31,257,286		probably benign	Het
Catip	T	G	1: 74,362,795	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,758,508	R331C	unknown	Het
Cep85l	T	C	10: 53,319,594		probably null	Het
Cfap206	T	A	4: 34,714,502	Q398L	probably benign	Het
Clec18a	A	G	8: 111,073,736	C352R	probably damaging	Het
Clic6	A	T	16: 92,539,451	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,293,073		probably benign	Het
Cyb5r3	A	C	15: 83,158,635		probably benign	Het
Dnah6	C	T	6: 73,113,488	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,902,440	R296L	probably damaging	Het
Dtwd1	C	A	2: 126,154,774	Q60K	probably benign	Het
Esyt1	C	A	10: 128,516,574	V723L	probably benign	Het
Fam71f1	A	G	6: 29,323,897	D207G	probably damaging	Het
Fbxo42	T	C	4: 141,199,024	L339P	probably damaging	Het
Furin	A	T	7: 80,393,421	N347K	probably damaging	Het
Fzd7	T	C	1: 59,483,363	M135T	probably damaging	Het
Hlf	A	G	11: 90,387,806	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,649	Q174*	probably null	Het
Kcnb1	T	A	2: 167,105,183	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692	Y391H	probably damaging	Het
Kif21b	C	T	1: 136,169,228	T1297M	probably damaging	Het
Krt8	T	G	15: 101,998,440	N317T	possibly damaging	Het
Lctl	G	T	9: 64,137,914	V372L	probably benign	Het
Lig1	C	T	7: 13,308,507	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,462,564	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,115,121	H10Y	probably benign	Het
Med1	A	T	11: 98,157,240	M910K	probably benign	Het
Mia2	A	T	12: 59,108,125	D209V	probably damaging	Het
Mpp4	C	T	1: 59,144,858		probably benign	Het
Mrgprb1	A	T	7: 48,447,477	V229E	possibly damaging	Het
Mtor	T	A	4: 148,463,732	C485S	probably damaging	Het
Mx1	T	C	16: 97,457,428	D23G	probably damaging	Het
Myrfl	T	C	10: 116,783,233	D740G	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nav2	G	A	7: 49,535,913	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,461,166	N262K	possibly damaging	Het
Olfr819	C	T	10: 129,966,209	A164T	probably benign	Het
Olfr916	A	G	9: 38,658,078	C105R	possibly damaging	Het
Opa1	A	T	16: 29,618,259	D699V	probably damaging	Het
Otud7a	A	G	7: 63,757,433	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,463,753	D53G	probably benign	Het
Pdcd5	A	G	7: 35,646,996		probably benign	Het
Phf21a	C	T	2: 92,228,477	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,108,130	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,779,144		probably benign	Het
Ptprq	T	C	10: 107,699,635	Q423R	probably damaging	Het
Rabgef1	A	G	5: 130,213,000	D415G	probably benign	Het
Rapgef6	A	G	11: 54,523,117	E23G	probably benign	Het
Rpia	G	T	6: 70,783,579	C121*	probably null	Het
Serpinb13	T	A	1: 106,998,697	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,137,734	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,162,065		probably benign	Het
Slamf6	A	C	1: 171,936,682	N214T	probably damaging	Het
Slc7a2	T	C	8: 40,908,093	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,671,178		probably null	Het
Spink7	A	T	18: 62,592,436	F79I	possibly damaging	Het
Srpk3	C	T	X: 73,774,949	R82*	probably null	Het
Sspo	A	T	6: 48,493,310	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,676,859	K700R	probably benign	Het
Tcf25	G	T	8: 123,388,633	R203L	probably damaging	Het
Tcp11	T	C	17: 28,071,783	I201V	possibly damaging	Het
Tex2	T	C	11: 106,546,789	D685G	unknown	Het
Themis	G	T	10: 28,761,199	E100*	probably null	Het
Tmem52b	G	A	6: 129,514,258		probably null	Het
Tnr	C	T	1: 159,684,656		probably benign	Het
Tox3	T	C	8: 90,248,816	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828	E269V	probably benign	Het
Tulp1	C	T	17: 28,362,677		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ube2j2	A	C	4: 155,949,058	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,492,608	M1K	probably null	Het
Vmn2r52	C	A	7: 10,176,270	R6L	probably benign	Het
Zbed4	G	A	15: 88,781,087	V453M	probably benign	Het
Zfp319	T	C	8: 95,328,471	E368G	probably benign	Het
Zfp366	A	C	13: 99,229,609	E426A	probably damaging	Het
Zfp687	A	T	3: 95,009,466	I783N	probably damaging	Het

Other mutations in Pum1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Pum1	APN	4	130743789	missense	probably damaging	1.00
IGL01327:Pum1	APN	4	130730543	missense	probably damaging	0.97
IGL01360:Pum1	APN	4	130728170	intron	probably benign
IGL02055:Pum1	APN	4	130754054	missense	probably benign	0.19
IGL02713:Pum1	APN	4	130766012	missense	probably damaging	1.00
IGL03401:Pum1	APN	4	130743681	splice site	probably benign
LCD18:Pum1	UTSW	4	130730549	intron	probably benign
R0077:Pum1	UTSW	4	130772674	missense	probably benign	0.06
R0346:Pum1	UTSW	4	130779805	missense	possibly damaging	0.74
R0632:Pum1	UTSW	4	130728104	missense	probably benign	0.34
R0870:Pum1	UTSW	4	130768844	missense	probably damaging	0.99
R1006:Pum1	UTSW	4	130771888	missense	probably damaging	0.98
R1300:Pum1	UTSW	4	130765961	missense	probably damaging	1.00
R1499:Pum1	UTSW	4	130719256	missense	probably damaging	1.00
R1572:Pum1	UTSW	4	130718204	missense	probably damaging	0.99
R1835:Pum1	UTSW	4	130701048	missense	possibly damaging	0.93
R1864:Pum1	UTSW	4	130751525	missense	possibly damaging	0.90
R1991:Pum1	UTSW	4	130718218	missense	possibly damaging	0.93
R2068:Pum1	UTSW	4	130774434	missense	probably benign	0.02
R2119:Pum1	UTSW	4	130669270	missense	possibly damaging	0.92
R2120:Pum1	UTSW	4	130669270	missense	possibly damaging	0.92
R2122:Pum1	UTSW	4	130669270	missense	possibly damaging	0.92
R2153:Pum1	UTSW	4	130751491	missense	probably damaging	1.00
R2164:Pum1	UTSW	4	130728083	nonsense	probably null
R2164:Pum1	UTSW	4	130728084	missense	probably damaging	0.99
R2280:Pum1	UTSW	4	130766011	missense	probably damaging	1.00
R3116:Pum1	UTSW	4	130772660	missense	probably damaging	1.00
R3890:Pum1	UTSW	4	130764082	missense	probably damaging	1.00
R3891:Pum1	UTSW	4	130764082	missense	probably damaging	1.00
R3892:Pum1	UTSW	4	130764082	missense	probably damaging	1.00
R4134:Pum1	UTSW	4	130764069	missense	probably damaging	1.00
R4258:Pum1	UTSW	4	130730280	missense	probably damaging	1.00
R4731:Pum1	UTSW	4	130718193	missense	probably benign	0.00
R4732:Pum1	UTSW	4	130718193	missense	probably benign	0.00
R4733:Pum1	UTSW	4	130718193	missense	probably benign	0.00
R4973:Pum1	UTSW	4	130669137	missense	probably benign	0.27
R5198:Pum1	UTSW	4	130779879	nonsense	probably null
R5478:Pum1	UTSW	4	130751484	missense	possibly damaging	0.93
R5652:Pum1	UTSW	4	130764127	missense	possibly damaging	0.95
R5932:Pum1	UTSW	4	130730366	missense	probably benign	0.04
R6008:Pum1	UTSW	4	130768847	missense	probably damaging	1.00
R6112:Pum1	UTSW	4	130730280	missense	probably damaging	1.00
R6416:Pum1	UTSW	4	130728287	splice site	probably null
R6426:Pum1	UTSW	4	130753972	missense	probably damaging	1.00
R6431:Pum1	UTSW	4	130774505	missense	probably damaging	1.00
R7226:Pum1	UTSW	4	130771981	missense	probably damaging	1.00
R7273:Pum1	UTSW	4	130751480	missense	probably damaging	0.99
R7423:Pum1	UTSW	4	130774545	missense	probably damaging	1.00
R7491:Pum1	UTSW	4	130719174	missense	probably benign	0.08
R7526:Pum1	UTSW	4	130747026	missense	probably damaging	0.99
R7731:Pum1	UTSW	4	130762963	missense	probably benign	0.29
R7911:Pum1	UTSW	4	130774477	missense	probably benign	0.40
R8065:Pum1	UTSW	4	130751525	missense	possibly damaging	0.90
R8067:Pum1	UTSW	4	130751525	missense	possibly damaging	0.90
R8305:Pum1	UTSW	4	130771920	missense	probably benign	0.02
R8476:Pum1	UTSW	4	130752713	missense	possibly damaging	0.91
X0024:Pum1	UTSW	4	130779790	missense	probably benign	0.00
Z1177:Pum1	UTSW	4	130751479	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCGATGATAGCTCAGTGACATAGG -3'
(R):5'- AGAGCCATGCTGGTCTTGAG -3'

Sequencing Primer
(F):5'- TGATAGCTCAGTGACATAGGAGGAG -3'
(R):5'- GCCATGCTGGTCTTGAGAAAATTCC -3'

Posted On

2016-07-06