Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Pum1'

582977

Institutional Source

Beutler Lab

Gene Symbol

Pum1

Ensembl Gene

ENSMUSG00000028580

Gene Name

pumilio RNA-binding family member 1

Synonyms

Pumm

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130663321-130781564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130747026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 469 (V469A)

Ref Sequence

ENSEMBL: ENSMUSP00000030315 (fasta)

Gene Model

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

AlphaFold

Q80U78

Predicted Effect

probably damaging
Transcript: ENSMUST00000030315
AA Change: V469A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: V469A

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: V468A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: V468A

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: V468A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: V468A

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: V226A

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: V226A

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: V372A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: V372A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,152,981	F85I	unknown	Het
Ankrd22	A	T	19: 34,149,365	W22R	possibly damaging	Het
Aqr	A	T	2: 114,108,109	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609	E791G	probably damaging	Het
Bicd1	T	G	6: 149,513,726	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,599	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,851	H465R	probably damaging	Het
Card11	A	T	5: 140,913,429		probably null	Het
Ccdc9	A	G	7: 16,282,400	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,909,945	M355K	probably benign	Het
Cnot2	A	T	10: 116,507,080	V116E	probably benign	Het
Defb48	A	G	14: 62,977,831	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,777,651	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,400,957	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,287,876	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,527,493	V71I	probably benign	Het
Dzip3	A	T	16: 48,975,474	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,674,410		probably null	Het
Eogt	A	G	6: 97,113,952	F409L	probably damaging	Het
Erich6	A	T	3: 58,630,689	L218H	probably damaging	Het
Fam186a	G	C	15: 99,941,915	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,023,427	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,660,206	T501S	probably damaging	Het
Fmn1	A	C	2: 113,688,134	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,736,092	P170Q	probably benign	Het
Gm13101	A	T	4: 143,965,817	C205S	probably benign	Het
Gm14326	G	A	2: 177,946,505	H233Y	probably damaging	Het
Gm19410	G	A	8: 35,790,612	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm2832	A	T	14: 41,280,962	I143L		Het
Gm7534	T	C	4: 134,200,073		probably null	Het
Greb1	G	A	12: 16,716,765	T344I	probably benign	Het
Grik2	A	T	10: 49,523,822	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,973,051	N212D	probably benign	Het
Hgsnat	A	G	8: 25,971,049	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,656,573	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,695,294	I96N	unknown	Het
Il18r1	T	A	1: 40,471,772	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,799	V80I	probably damaging	Het
Kif18b	T	C	11: 102,914,667	I255V	probably damaging	Het
Kif2c	A	T	4: 117,182,432	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,558,038	W572R	probably damaging	Het
Mybphl	A	G	3: 108,374,180	T71A	probably benign	Het
Myo7a	G	T	7: 98,085,448	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,079,083	S195P	probably damaging	Het
Nrg1	T	C	8: 31,818,323	N603S	probably benign	Het
Olfr1054	A	T	2: 86,333,353	M1K	probably null	Het
Olfr1084	A	G	2: 86,639,669	I13T	possibly damaging	Het
Olfr629	T	C	7: 103,740,400	Y280C	probably damaging	Het
Parp8	T	C	13: 116,894,805	E457G	probably damaging	Het
Pclo	T	C	5: 14,521,062	F154L	probably benign	Het
Pear1	A	G	3: 87,752,568	S704P	probably damaging	Het
Pkib	A	G	10: 57,736,298	T92A	probably benign	Het
Pnpla7	A	G	2: 24,998,666	R376G	possibly damaging	Het
Ptprd	T	A	4: 76,066,327	E527D	probably benign	Het
Rnf148	G	A	6: 23,654,284	Q238*	probably null	Het
Scn9a	A	C	2: 66,483,646	N1909K	probably benign	Het
Sema3c	A	T	5: 17,727,596	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,689,728	C201S	probably damaging	Het
Serinc2	T	A	4: 130,258,790	D206V	probably benign	Het
Serping1	A	T	2: 84,767,293	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,548,872	L50Q	probably damaging	Het
Slc25a22	T	C	7: 141,431,383	E262G	probably benign	Het
Slc5a8	A	G	10: 88,902,491	I205M	probably damaging	Het
Sod2	G	T	17: 13,008,031		probably benign	Het
Tec	T	C	5: 72,786,019	I118V	probably benign	Het
Tenm3	A	T	8: 48,287,812	V1212E	probably damaging	Het
Tex44	G	A	1: 86,426,515	V49I	probably benign	Het
Tmem132d	A	T	5: 127,784,141	L972*	probably null	Het
Tpte	G	A	8: 22,325,547		probably null	Het
Trim6	T	A	7: 104,232,832	I456N	probably damaging	Het
Ubr4	G	C	4: 139,422,417	V520L	probably benign	Het
Ubxn8	A	T	8: 33,633,607	N101K	probably benign	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	Het
Vmn2r83	A	G	10: 79,491,558	T667A	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
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
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
R8835:Pum1	UTSW	4	130743753	missense	probably damaging	1.00
R8875:Pum1	UTSW	4	130779875	missense	possibly damaging	0.60
R9003:Pum1	UTSW	4	130747082	missense	probably benign	0.00
R9072:Pum1	UTSW	4	130752861	missense	probably damaging	1.00
R9073:Pum1	UTSW	4	130752861	missense	probably damaging	1.00
R9332:Pum1	UTSW	4	130771898	nonsense	probably null
R9496:Pum1	UTSW	4	130719353	critical splice donor site	probably null
R9801:Pum1	UTSW	4	130754017	missense	probably benign	0.28
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'- GGCTTCAGAAGAGCATCAAATACAG -3'
(R):5'- CACAGATGCACTCACTGGTC -3'

Sequencing Primer
(F):5'- TACAGTCAGTAGCTCAGTCCC -3'
(R):5'- GATGCACTCACTGGTCTGTCACTAG -3'

Posted On

2019-10-17