Mutagenetix > Incidental Mutations

Incidental Mutation 'R2153:Pum1'

234487

Institutional Source

Beutler Lab

Gene Symbol

Pum1

Ensembl Gene

ENSMUSG00000028580

Gene Name

pumilio RNA-binding family member 1

Synonyms

Pumm

MMRRC Submission

040156-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130663321-130781564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130751491 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 571 (A571S)

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: A572S

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

SMART Domains

Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: A572S

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: ENSMUST00000083262

Predicted Effect

probably damaging
Transcript: ENSMUST00000097862
AA Change: A571S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: A571S

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: A571S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: A571S

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 damaging
Transcript: ENSMUST00000105991
AA Change: A329S

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

SMART Domains

Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: A329S

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 damaging
Transcript: ENSMUST00000105992
AA Change: A475S

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

SMART Domains

Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: A475S

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

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

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 72,455,115	E363G	probably benign	Het
9930021J03Rik	T	C	19: 29,716,829	M1755V	probably benign	Het
Abcg2	T	A	6: 58,684,322		probably null	Het
Adgrg7	T	G	16: 56,752,428	I342L	possibly damaging	Het
Akap6	A	C	12: 53,141,404	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,234,059	V2416D	probably damaging	Het
Apaf1	A	G	10: 91,048,090	V670A	probably damaging	Het
Art5	A	G	7: 102,098,200	L124P	possibly damaging	Het
Atad5	T	A	11: 80,106,377	D842E	probably benign	Het
Capns1	A	G	7: 30,192,340	L124P	probably damaging	Het
Carmil1	A	G	13: 24,141,673	S225P	probably damaging	Het
Cars2	C	T	8: 11,530,299	A247T	possibly damaging	Het
Cd46	A	G	1: 195,062,413	I339T	probably benign	Het
Ceacam14	C	A	7: 17,814,228	T81N	probably benign	Het
Ceacam16	G	A	7: 19,861,141	P4L	probably benign	Het
Chek1	C	A	9: 36,723,983	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,055,671	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,987,580	A461S	unknown	Het
Comtd1	T	C	14: 21,848,272	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 27,032,617	N261S	probably benign	Het
Dclk1	A	G	3: 55,247,212	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,307,263	N981I	probably benign	Het
Dlg5	A	T	14: 24,137,157	I1819N	probably damaging	Het
Enpep	T	C	3: 129,280,582	N772S	probably damaging	Het
Erich1	T	C	8: 14,078,773	T56A	probably benign	Het
Ermp1	T	C	19: 29,637,398		probably null	Het
Etl4	A	G	2: 20,798,734	E807G	probably benign	Het
Fat4	A	T	3: 38,983,395	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,693,370	T144P	probably damaging	Het
Flywch1	A	T	17: 23,755,650	I672K	probably benign	Het
Foxk2	C	A	11: 121,260,387	A86E	probably benign	Het
Garem2	T	C	5: 30,108,299	S54P	probably damaging	Het
Gda	A	G	19: 21,397,505		probably null	Het
Gna15	T	C	10: 81,502,904	Y367C	probably damaging	Het
Golga3	A	G	5: 110,187,990		probably null	Het
Greb1	T	C	12: 16,699,532	S1098G	probably damaging	Het
Hook3	C	A	8: 26,070,197	L333F	probably damaging	Het
Ikbkap	T	A	4: 56,779,636		probably null	Het
Il6	C	T	5: 30,013,504	Q33*	probably null	Het
Iqgap1	T	C	7: 80,751,953	E468G	probably benign	Het
Iqgap1	A	G	7: 80,759,903	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,668,667	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,371,440	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,369,888	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 44,219,898		probably null	Het
Lmo7	A	G	14: 101,920,515		probably benign	Het
Loxhd1	A	T	18: 77,356,166	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,614,339	M796K	probably benign	Het
Med15	A	T	16: 17,685,451		probably null	Het
Mfn1	T	A	3: 32,542,826	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,631,074	Y504F	probably damaging	Het
Nmi	T	C	2: 51,952,543	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,504,914	I1141T	probably damaging	Het
Olah	T	C	2: 3,365,269	S9G	probably benign	Het
Olfr1054	A	C	2: 86,332,528	F276C	probably damaging	Het
Olfr1204	C	A	2: 88,852,784	P278H	probably damaging	Het
Olfr1477	T	G	19: 13,502,488	I48M	probably damaging	Het
Olfr24	T	C	9: 18,755,095	D180G	probably damaging	Het
Olfr913	G	T	9: 38,594,411	L63F	probably damaging	Het
Otog	T	A	7: 46,302,904	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,072,756	V605F	probably damaging	Het
Pik3cb	T	A	9: 99,101,244	K104*	probably null	Het
Plb1	T	A	5: 32,314,089	I580N	probably damaging	Het
Plekha2	T	C	8: 25,088,397	Y29C	probably damaging	Het
Plekha7	T	A	7: 116,175,767	Y213F	probably damaging	Het
Plin5	T	C	17: 56,116,836	D33G	probably benign	Het
Pnpla2	C	A	7: 141,459,219	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,278,185	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,866,554	D266E	probably damaging	Het
Prss23	A	G	7: 89,509,911	S317P	probably damaging	Het
Prss33	C	T	17: 23,834,843	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,002,468	Q297H	probably damaging	Het
Rexo1	G	T	10: 80,544,109	C13*	probably null	Het
Rhpn1	A	T	15: 75,704,394	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ripk2	A	G	4: 16,132,775		probably null	Het
Rps6kc1	T	C	1: 190,798,723	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,954,198	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,577,873	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,378,543	V1256F	probably benign	Het
Senp5	T	C	16: 31,968,874	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,252,978	F94I	probably damaging	Het
Sidt2	T	C	9: 45,945,340	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,803,949	H619Q	probably damaging	Het
Slmap	A	G	14: 26,418,247	Y771H	probably damaging	Het
Sned1	T	A	1: 93,274,657	D674E	probably benign	Het
Sorl1	T	C	9: 41,984,492	H1789R	probably benign	Het
Sp2	T	C	11: 96,962,008	D30G	possibly damaging	Het
Stk33	T	A	7: 109,341,320	N61I	probably benign	Het
Stxbp1	T	A	2: 32,802,856	I383F	probably damaging	Het
Tbcd	A	G	11: 121,603,631	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,302,560	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,087,872	D623G	probably damaging	Het
Trib2	A	G	12: 15,793,829	F271L	probably damaging	Het
Ttn	A	G	2: 76,980,133	V17A	probably benign	Het
Ubqlnl	A	T	7: 104,148,683	C536S	probably benign	Het
Vmn1r230	T	A	17: 20,846,801	M84K	probably damaging	Het
Vmn2r97	A	T	17: 18,947,322	R613*	probably null	Het
Yeats2	T	A	16: 20,154,166	D23E	probably damaging	Het
Zan	T	A	5: 137,436,400	I2214F	unknown	Het
Zbtb40	T	C	4: 136,991,635	D917G	probably damaging	Het
Zcchc2	C	A	1: 106,021,723		probably null	Het
Zdhhc23	G	T	16: 43,973,919	Q131K	probably benign	Het
Zfp345	T	C	2: 150,472,658	T320A	probably benign	Het
Zfp532	A	G	18: 65,624,927	T644A	possibly 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
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	unclassified	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
X0024:Pum1	UTSW	4	130779790	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTAATTATTGGAGGACTTTCCACC -3'
(R):5'- TGCCTTGCAGCTACTGACTC -3'

Sequencing Primer
(F):5'- ACCTAATACCTTGCATGGTGG -3'
(R):5'- TGCAGCTACTGACTCTCTGAAAG -3'

Posted On

2014-10-01