Mutagenetix > Incidental Mutations

Incidental Mutation 'R1499:Pum1'

168683

Institutional Source

Beutler Lab

Gene Symbol

Pum1

Ensembl Gene

ENSMUSG00000028580

Gene Name

pumilio RNA-binding family member 1

Synonyms

Pumm

MMRRC Submission

039550-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130663321-130781564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130719256 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 209 (S209P)

Ref Sequence

ENSEMBL: ENSMUSP00000095476 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000030315
AA Change: S209P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: S209P

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 damaging
Transcript: ENSMUST00000097862
AA Change: S209P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: S209P

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 damaging
Transcript: ENSMUST00000097864
AA Change: S209P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: S209P

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

SMART Domains

Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580

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

SMART Domains

Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580

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

probably benign
Transcript: ENSMUST00000143277

SMART Domains

Protein: ENSMUSP00000114629
Gene: ENSMUSG00000028580

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

0.1281

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

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
1700074P13Rik	A	T	6: 40,921,718	S199T	probably benign	Het
Abca9	T	A	11: 110,139,632	Y763F	probably benign	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Actl11	A	G	9: 107,931,483	T1002A	probably damaging	Het
Ampd1	T	A	3: 103,091,664	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,586		probably benign	Het
Arhgap6	C	A	X: 168,796,503	P95T	possibly damaging	Het
Atg14	T	C	14: 47,560,645	N87S	probably benign	Het
Atp9b	C	T	18: 80,762,138	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,778,907	T110S	probably benign	Het
Birc6	T	G	17: 74,612,319	L221R	probably damaging	Het
Ces1c	A	G	8: 93,127,605	F101L	probably benign	Het
Chsy1	T	C	7: 66,172,002	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,507,900	F176I	probably benign	Het
Col5a2	A	G	1: 45,411,466	S374P	probably benign	Het
Col6a2	A	T	10: 76,603,710	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336	I401K	probably damaging	Het
Cspp1	T	A	1: 10,088,966		probably null	Het
Ddn	G	A	15: 98,806,766	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799		probably benign	Het
Dync2li1	T	C	17: 84,647,239		probably benign	Het
Eif2a	T	A	3: 58,537,584	L50*	probably null	Het
Elavl3	G	A	9: 22,018,579	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,708,638		probably null	Het
Fgf8	C	A	19: 45,742,347	V80F	possibly damaging	Het
Fras1	A	T	5: 96,743,187	E2858D	probably benign	Het
Fshr	A	T	17: 88,986,101	L383Q	probably damaging	Het
Glb1	A	G	9: 114,417,103	K74R	probably benign	Het
Gmeb2	T	G	2: 181,255,226	M290L	probably benign	Het
Gnptg	A	G	17: 25,235,854		probably null	Het
Grik2	A	C	10: 49,132,775	S739A	probably damaging	Het
Grk2	T	A	19: 4,287,194	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,514,512	V210A	probably damaging	Het
Hyal1	C	T	9: 107,577,892	L134F	probably damaging	Het
Itgb2	A	T	10: 77,546,153	K18N	possibly damaging	Het
Jam3	A	T	9: 27,106,405	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,239,915	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,473,298	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,400,025	Y981C	probably damaging	Het
Klk1b26	C	A	7: 44,016,386	D207E	probably benign	Het
Kmt2a	G	T	9: 44,848,266	T762N	probably benign	Het
Kmt2d	A	G	15: 98,844,938		probably benign	Het
Lama4	T	C	10: 39,088,880	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,718,969	C127S	unknown	Het
Maats1	A	G	16: 38,321,400	V390A	probably damaging	Het
Map7d1	A	G	4: 126,234,765		probably null	Het
Ninl	T	C	2: 150,980,176	D2G	possibly damaging	Het
Olfr1029	C	T	2: 85,976,028	P262S	possibly damaging	Het
Olfr1369-ps1	T	A	13: 21,116,133	M147K	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr195	A	G	16: 59,148,924	T25A	probably benign	Het
Olfr429	T	A	1: 174,089,247	L69*	probably null	Het
Pax8	A	G	2: 24,429,596	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,260,244	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,570,287	F40Y	probably benign	Het
Phrf1	G	T	7: 141,256,651	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,940,538		probably benign	Het
Qtrt2	A	T	16: 43,868,974	F220L	probably benign	Het
Rgs9	A	G	11: 109,268,921		probably null	Het
Rin3	A	G	12: 102,368,759	T230A	unknown	Het
Ros1	A	T	10: 52,098,677	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528	M151V	probably benign	Het
Sacs	T	A	14: 61,213,704	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,224,929	V148I	probably benign	Het
Slc13a5	A	G	11: 72,250,731	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,562,907		probably null	Het
Smarcc2	T	A	10: 128,463,872	N135K	probably damaging	Het
Snx15	G	C	19: 6,122,064	S116R	probably damaging	Het
Stag1	A	G	9: 100,855,832	E414G	possibly damaging	Het
Stag1	A	T	9: 100,887,373		probably benign	Het
Tmem106a	T	A	11: 101,590,437	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,964,754	D1968N	probably benign	Het
Trim42	A	G	9: 97,366,085	L186P	possibly damaging	Het
Tshb	T	A	3: 102,778,308		probably benign	Het
Ttn	T	A	2: 76,754,140	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,640,283	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228	T113I	probably damaging	Het
Vps13c	A	G	9: 67,957,505	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,651,809		probably benign	Het
Zc3h7a	G	A	16: 11,162,656	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046	S1191P	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
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
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'- TGGGTCTCCTGATTCCCAGACATTG -3'
(R):5'- CCTCATGCAGATACCCAACTTGTCC -3'

Sequencing Primer
(F):5'- CCCAGACATTGGTTTATCACGAG -3'
(R):5'- AAGTGCAGTTTGCCTGTCC -3'

Posted On

2014-04-13