Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Pum1'

231276

Institutional Source

Beutler Lab

Gene Symbol

Pum1

Ensembl Gene

ENSMUSG00000028580

Gene Name

pumilio RNA-binding family member 1

Synonyms

Pumm

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R2119 (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 (GRCm38)

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]

AlphaFold

Q80U78

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: 97.5%
20x: 95.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,255,160	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Aifm2	G	A	10: 61,735,604	V306M	possibly damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,291,981	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,208,915	L821P	probably benign	Het
Cdh19	C	T	1: 110,919,590	V430I	probably benign	Het
Clns1a	T	A	7: 97,713,904		probably null	Het
Col3a1	T	A	1: 45,346,121	C133S	probably damaging	Het
Csmd1	G	A	8: 17,216,733	T59I	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Cyp2j8	A	T	4: 96,507,201	D62E	probably benign	Het
Dcbld1	A	T	10: 52,319,979	M428L	probably benign	Het
Dhx32	A	T	7: 133,722,247	Y523*	probably null	Het
Dlgap2	C	T	8: 14,778,206	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,236,189	S919P	probably benign	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsc1	A	T	18: 20,110,152	H81Q	probably benign	Het
Dusp8	A	T	7: 142,082,561	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096	T59S	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Eef1d	G	T	15: 75,903,213	A199E	probably benign	Het
Eml3	T	A	19: 8,934,354		probably null	Het
Enah	G	T	1: 181,921,753	A138E	probably damaging	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Gba	A	T	3: 89,205,561	E170V	probably benign	Het
Hdac1	C	T	4: 129,522,364	R212Q	probably benign	Het
Heatr1	T	A	13: 12,432,646	L1740Q	probably null	Het
Inhbb	T	A	1: 119,420,701	H129L	probably benign	Het
Inpp5b	T	A	4: 124,797,869	H862Q	probably benign	Het
Itsn2	C	A	12: 4,707,025	R1372S	probably benign	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Klk1b21	A	T	7: 44,105,769	T163S	probably benign	Het
Lmo3	A	T	6: 138,416,494	C43S	probably damaging	Het
Metrn	C	T	17: 25,795,223	V210I	probably benign	Het
Ndufaf7	A	T	17: 78,945,013	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr713	A	G	7: 107,036,731	D192G	probably damaging	Het
Osbpl7	T	C	11: 97,056,079	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reln	T	A	5: 22,019,000	E917V	probably damaging	Het
Rfc4	A	T	16: 23,124,564	V61E	probably damaging	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,935,997		probably null	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Serhl	A	G	15: 83,115,575	Q252R	probably benign	Het
Sestd1	T	C	2: 77,212,523	D229G	probably benign	Het
Slc35g1	T	C	19: 38,403,287	V339A	probably benign	Het
Slc9b2	T	A	3: 135,328,982		probably null	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tep1	T	G	14: 50,838,986	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,586,095	K193E	possibly damaging	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Ttc5	A	T	14: 50,775,365	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,336,571	M198K	probably damaging	Het
Uox	A	G	3: 146,612,542	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451	D2487E	probably benign	Het
Vnn3	G	A	10: 23,864,413	G205R	probably damaging	Het
Vps11	T	C	9: 44,348,997	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,982,048	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,929,678	L138*	probably null	Het
Zfp28	A	G	7: 6,394,876	Y770C	probably benign	Het
Zfp655	T	A	5: 145,244,784	L484Q	probably damaging	Het
Zfp868	C	A	8: 69,611,995	E230*	probably null	Het
Zfpm2	A	G	15: 41,103,023	Y836C	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
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
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'- ACATGCCTGTTGTTTTGACATCTG -3'
(R):5'- GTCAGTGGCAATTACAACAACC -3'

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

Posted On

2014-09-18