Mutagenetix > Incidental Mutations

Incidental Mutation 'R2122:Pum1'

229561

Institutional Source

Beutler Lab

Gene Symbol

Pum1

Ensembl Gene

ENSMUSG00000028580

Gene Name

pumilio RNA-binding family member 1

Synonyms

Pumm

MMRRC Submission

040126-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.905) question?

Stock #

R2122 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130663321-130781564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 130669270 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 112 (T112K)

Ref Sequence

ENSEMBL: ENSMUSP00000114629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030315] [ENSMUST00000097862] [ENSMUST00000097864] [ENSMUST00000105991] [ENSMUST00000105992] [ENSMUST00000143277]

Predicted Effect

probably benign
Transcript: ENSMUST00000030315
AA Change: T112K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: T112K

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

probably benign
Transcript: ENSMUST00000097862
AA Change: T112K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: T112K

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: T112K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: T112K

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

possibly damaging
Transcript: ENSMUST00000105991
AA Change: T112K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: T112K

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

unknown
Transcript: ENSMUST00000105992
AA Change: T112K

SMART Domains

Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: T112K

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: ENSMUST00000122847

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143277
AA Change: T112K

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114629
Gene: ENSMUSG00000028580
AA Change: T112K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	T	7: 120,519,961	G975V	probably damaging	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Actl10	G	A	2: 154,552,233	R35H	probably damaging	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Ahctf1	C	A	1: 179,769,452	R43L	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Arhgef7	A	T	8: 11,728,256	N2I	possibly damaging	Het
Blvra	T	G	2: 127,086,897	S102A	probably damaging	Het
Btn1a1	A	G	13: 23,461,521	L226P	probably damaging	Het
C2cd4d	G	T	3: 94,363,618	E64*	probably null	Het
Ccna2	A	G	3: 36,568,726	V209A	probably damaging	Het
Cd55	T	A	1: 130,459,617	D148V	possibly damaging	Het
Cdh2	G	A	18: 16,774,543	P46L	probably benign	Het
Cldn11	A	G	3: 31,163,151	Y156C	probably damaging	Het
Cmtm2a	T	C	8: 104,293,023	R12G	possibly damaging	Het
Cog2	T	C	8: 124,528,985	S104P	possibly damaging	Het
Col4a3	T	G	1: 82,654,957	F184V	unknown	Het
Col4a4	T	A	1: 82,456,871	D1406V	unknown	Het
Col6a1	T	C	10: 76,721,498	T207A	probably benign	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Eif2ak4	T	A	2: 118,455,793	V1063E	probably damaging	Het
Enpp2	A	T	15: 54,897,792	Y44*	probably null	Het
Ep400	A	T	5: 110,708,850		probably benign	Het
Exoc6b	A	G	6: 84,621,482	M779T	probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Fscn3	A	G	6: 28,430,389	D186G	probably benign	Het
Gm5773	G	A	3: 93,773,317	G99R	possibly damaging	Het
Grk1	A	T	8: 13,405,221	Y35F	probably benign	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Hfm1	A	G	5: 106,896,255	S567P	probably damaging	Het
Il1rap	A	T	16: 26,710,565	H379L	probably damaging	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Krtap5-5	A	T	7: 142,229,503	C137S	unknown	Het
Lrp2	T	C	2: 69,483,707	T2227A	probably damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Map1a	T	A	2: 121,299,446	Y248N	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mfsd4b1	T	C	10: 40,002,651	K417E	possibly damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh11	T	C	16: 14,218,004	E1027G	probably damaging	Het
Nudt6	A	C	3: 37,412,405	F80L	probably benign	Het
Nxph1	A	G	6: 9,247,791	K254R	probably damaging	Het
Obsl1	C	T	1: 75,493,883	R1043H	probably benign	Het
Olfr17	A	T	7: 107,098,109	I215F	probably damaging	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Phldb2	T	A	16: 45,762,941	I1065F	probably damaging	Het
Ppp1r3a	A	T	6: 14,721,875	N317K	possibly damaging	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reg3a	T	C	6: 78,381,136	C17R	possibly damaging	Het
Ripor2	A	G	13: 24,713,718	S800G	probably damaging	Het
Rnf168	T	G	16: 32,278,218	L37R	probably damaging	Het
Rnf31	A	G	14: 55,596,197	D554G	probably damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sacs	A	T	14: 61,212,316	Q3937L	probably damaging	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Slc20a1	T	G	2: 129,199,819	I34S	possibly damaging	Het
Slc25a30	A	G	14: 75,770,218	S116P	possibly damaging	Het
Speer4c	T	A	5: 15,714,117	D29V	possibly damaging	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Susd3	A	G	13: 49,231,150	Y254H	probably damaging	Het
Tanc2	T	C	11: 105,895,949	L858P	probably damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tfpt	C	T	7: 3,628,931	R60Q	probably damaging	Het
Tmem44	T	A	16: 30,547,444	K55*	probably null	Het
Tnfsf9	A	T	17: 57,107,316		probably null	Het
Ube3c	T	C	5: 29,619,606	I543T	probably benign	Het
Ugt1a2	C	A	1: 88,201,013	S126Y	possibly damaging	Het
Vmn1r180	T	A	7: 23,953,141	L243Q	probably damaging	Het
Vmn2r15	A	C	5: 109,286,456	V794G	probably damaging	Het
Vmn2r24	A	G	6: 123,815,394	D560G	possibly damaging	Het
Wdr11	G	A	7: 129,631,766	C1028Y	probably damaging	Het
Zfp318	A	G	17: 46,413,371	D2100G	probably benign	Het
Zfyve16	A	T	13: 92,519,483	Y789*	probably null	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
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
R5249:Pum1	UTSW	4	130762814	missense	probably benign	0.07
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'- ACATGCCTGTTGTTTTGACATCTG -3'
(R):5'- GTCAGTGGCAATTACAACAACC -3'

Sequencing Primer
(F):5'- TGCAAATCAGGCTCTTGCAG -3'
(R):5'- GTGGCAATTACAACAACCAACCATTC -3'

Posted On

2014-09-17