Mutagenetix > Incidental Mutation

Incidental Mutation 'R6426:Pum1'

518318

Institutional Source

Beutler Lab

Gene Symbol

Pum1

Ensembl Gene

ENSMUSG00000028580

Gene Name

pumilio RNA-binding family member 1

Synonyms

Pumm

MMRRC Submission

044565-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.890) question?

Stock #

R6426 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130390632-130508875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130481283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 464 (R464H)

Ref Sequence

ENSEMBL: ENSMUSP00000101612 (fasta)

Gene Model

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

AlphaFold

Q80U78

Predicted Effect

probably damaging
Transcript: ENSMUST00000030315
AA Change: R707H

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

SMART Domains

Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: R707H

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: R706H

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

SMART Domains

Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: R706H

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: R706H

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

SMART Domains

Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: R706H

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: R464H

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

SMART Domains

Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: R464H

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: R610H

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

SMART Domains

Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: R610H

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: ENSMUST00000154720

Meta Mutation Damage Score

0.1402

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.5%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Adcyap1r1	T	G	6: 55,471,172 (GRCm39)	L365R	probably damaging	Het
Adgre4	A	G	17: 56,109,196 (GRCm39)	N401S	probably benign	Het
Adgrl3	A	T	5: 81,874,717 (GRCm39)	S1073C	probably damaging	Het
Bicral	G	A	17: 47,141,005 (GRCm39)	P26S	probably benign	Het
Cst3	G	T	2: 148,713,917 (GRCm39)	T129K	probably benign	Het
Cyp26a1	T	C	19: 37,687,753 (GRCm39)	M287T	probably benign	Het
Daam2	C	T	17: 49,776,404 (GRCm39)	E828K	probably damaging	Het
Dmxl1	T	C	18: 49,997,645 (GRCm39)	V611A	probably damaging	Het
Fam149a	C	A	8: 45,834,611 (GRCm39)	A63S	probably benign	Het
Fhip2a	T	G	19: 57,371,610 (GRCm39)	L574R	probably damaging	Het
Foxred2	C	G	15: 77,837,508 (GRCm39)	A243P	probably damaging	Het
Gm3604	A	T	13: 62,517,436 (GRCm39)	D307E	probably damaging	Het
Lca5	G	A	9: 83,277,707 (GRCm39)	Q546*	probably null	Het
Mfsd4b1	T	C	10: 39,882,073 (GRCm39)	T71A	possibly damaging	Het
Onecut1	A	G	9: 74,769,631 (GRCm39)	H18R	probably damaging	Het
Or5a1	A	G	19: 12,097,212 (GRCm39)	V288A	probably benign	Het
Paqr7	A	G	4: 134,234,278 (GRCm39)	Y45C	probably damaging	Het
Pcsk5	G	T	19: 17,595,093 (GRCm39)	Q414K	probably damaging	Het
Ppp4r2	T	C	6: 100,829,558 (GRCm39)	Y77H	probably damaging	Het
Prr19	A	G	7: 25,003,262 (GRCm39)	D292G	probably damaging	Het
Rhoq	G	T	17: 87,302,442 (GRCm39)	R126L	probably damaging	Het
Sdhb	A	G	4: 140,701,029 (GRCm39)	K162E	probably benign	Het
Sema3d	G	A	5: 12,613,231 (GRCm39)	G436E	probably damaging	Het
Sf3b1	A	T	1: 55,038,814 (GRCm39)	M823K	probably benign	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Syne2	G	T	12: 75,969,857 (GRCm39)	E977D	probably null	Het
Tns2	A	T	15: 102,015,472 (GRCm39)	M125L	possibly damaging	Het
Ttn	T	A	2: 76,542,313 (GRCm39)	K31812*	probably null	Het
Ube4b	G	A	4: 149,510,453 (GRCm39)		probably benign	Het
Vmn2r91	G	A	17: 18,355,865 (GRCm39)		probably null	Het
Zbtb49	G	A	5: 38,360,431 (GRCm39)		probably null	Het
Zswim8	T	A	14: 20,768,594 (GRCm39)	S1035T	probably damaging	Het

Other mutations in Pum1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Pum1	APN	4	130,471,100 (GRCm39)	missense	probably damaging	1.00
IGL01327:Pum1	APN	4	130,457,854 (GRCm39)	missense	probably damaging	0.97
IGL01360:Pum1	APN	4	130,455,481 (GRCm39)	intron	probably benign
IGL02055:Pum1	APN	4	130,481,365 (GRCm39)	missense	probably benign	0.19
IGL02713:Pum1	APN	4	130,493,323 (GRCm39)	missense	probably damaging	1.00
IGL03401:Pum1	APN	4	130,470,992 (GRCm39)	splice site	probably benign
LCD18:Pum1	UTSW	4	130,730,549 (GRCm38)	intron	probably benign
R0077:Pum1	UTSW	4	130,499,985 (GRCm39)	missense	probably benign	0.06
R0346:Pum1	UTSW	4	130,507,116 (GRCm39)	missense	possibly damaging	0.74
R0632:Pum1	UTSW	4	130,455,415 (GRCm39)	missense	probably benign	0.34
R0870:Pum1	UTSW	4	130,496,155 (GRCm39)	missense	probably damaging	0.99
R1006:Pum1	UTSW	4	130,499,199 (GRCm39)	missense	probably damaging	0.98
R1300:Pum1	UTSW	4	130,493,272 (GRCm39)	missense	probably damaging	1.00
R1499:Pum1	UTSW	4	130,446,567 (GRCm39)	missense	probably damaging	1.00
R1572:Pum1	UTSW	4	130,445,515 (GRCm39)	missense	probably damaging	0.99
R1835:Pum1	UTSW	4	130,428,359 (GRCm39)	missense	possibly damaging	0.93
R1864:Pum1	UTSW	4	130,478,836 (GRCm39)	missense	possibly damaging	0.90
R1991:Pum1	UTSW	4	130,445,529 (GRCm39)	missense	possibly damaging	0.93
R2068:Pum1	UTSW	4	130,501,745 (GRCm39)	missense	probably benign	0.02
R2119:Pum1	UTSW	4	130,396,581 (GRCm39)	missense	possibly damaging	0.92
R2120:Pum1	UTSW	4	130,396,581 (GRCm39)	missense	possibly damaging	0.92
R2122:Pum1	UTSW	4	130,396,581 (GRCm39)	missense	possibly damaging	0.92
R2153:Pum1	UTSW	4	130,478,802 (GRCm39)	missense	probably damaging	1.00
R2164:Pum1	UTSW	4	130,455,395 (GRCm39)	missense	probably damaging	0.99
R2164:Pum1	UTSW	4	130,455,394 (GRCm39)	nonsense	probably null
R2280:Pum1	UTSW	4	130,493,322 (GRCm39)	missense	probably damaging	1.00
R3116:Pum1	UTSW	4	130,499,971 (GRCm39)	missense	probably damaging	1.00
R3890:Pum1	UTSW	4	130,491,393 (GRCm39)	missense	probably damaging	1.00
R3891:Pum1	UTSW	4	130,491,393 (GRCm39)	missense	probably damaging	1.00
R3892:Pum1	UTSW	4	130,491,393 (GRCm39)	missense	probably damaging	1.00
R4134:Pum1	UTSW	4	130,491,380 (GRCm39)	missense	probably damaging	1.00
R4258:Pum1	UTSW	4	130,457,591 (GRCm39)	missense	probably damaging	1.00
R4731:Pum1	UTSW	4	130,445,504 (GRCm39)	missense	probably benign	0.00
R4732:Pum1	UTSW	4	130,445,504 (GRCm39)	missense	probably benign	0.00
R4733:Pum1	UTSW	4	130,445,504 (GRCm39)	missense	probably benign	0.00
R4973:Pum1	UTSW	4	130,396,448 (GRCm39)	missense	probably benign	0.27
R5198:Pum1	UTSW	4	130,507,190 (GRCm39)	nonsense	probably null
R5249:Pum1	UTSW	4	130,490,125 (GRCm39)	missense	probably benign	0.07
R5478:Pum1	UTSW	4	130,478,795 (GRCm39)	missense	possibly damaging	0.93
R5652:Pum1	UTSW	4	130,491,438 (GRCm39)	missense	possibly damaging	0.95
R5932:Pum1	UTSW	4	130,457,677 (GRCm39)	missense	probably benign	0.04
R6008:Pum1	UTSW	4	130,496,158 (GRCm39)	missense	probably damaging	1.00
R6112:Pum1	UTSW	4	130,457,591 (GRCm39)	missense	probably damaging	1.00
R6416:Pum1	UTSW	4	130,455,598 (GRCm39)	splice site	probably null
R6431:Pum1	UTSW	4	130,501,816 (GRCm39)	missense	probably damaging	1.00
R7226:Pum1	UTSW	4	130,499,292 (GRCm39)	missense	probably damaging	1.00
R7273:Pum1	UTSW	4	130,478,791 (GRCm39)	missense	probably damaging	0.99
R7423:Pum1	UTSW	4	130,501,856 (GRCm39)	missense	probably damaging	1.00
R7491:Pum1	UTSW	4	130,446,485 (GRCm39)	missense	probably benign	0.08
R7526:Pum1	UTSW	4	130,474,337 (GRCm39)	missense	probably damaging	0.99
R7731:Pum1	UTSW	4	130,490,274 (GRCm39)	missense	probably benign	0.29
R7911:Pum1	UTSW	4	130,501,788 (GRCm39)	missense	probably benign	0.40
R8065:Pum1	UTSW	4	130,478,836 (GRCm39)	missense	possibly damaging	0.90
R8067:Pum1	UTSW	4	130,478,836 (GRCm39)	missense	possibly damaging	0.90
R8305:Pum1	UTSW	4	130,499,231 (GRCm39)	missense	probably benign	0.02
R8476:Pum1	UTSW	4	130,480,024 (GRCm39)	missense	possibly damaging	0.91
R8835:Pum1	UTSW	4	130,471,064 (GRCm39)	missense	probably damaging	1.00
R8875:Pum1	UTSW	4	130,507,186 (GRCm39)	missense	possibly damaging	0.60
R9003:Pum1	UTSW	4	130,474,393 (GRCm39)	missense	probably benign	0.00
R9072:Pum1	UTSW	4	130,480,172 (GRCm39)	missense	probably damaging	1.00
R9073:Pum1	UTSW	4	130,480,172 (GRCm39)	missense	probably damaging	1.00
R9332:Pum1	UTSW	4	130,499,209 (GRCm39)	nonsense	probably null
R9496:Pum1	UTSW	4	130,446,664 (GRCm39)	critical splice donor site	probably null
R9801:Pum1	UTSW	4	130,481,328 (GRCm39)	missense	probably benign	0.28
X0024:Pum1	UTSW	4	130,507,101 (GRCm39)	missense	probably benign	0.00
Z1177:Pum1	UTSW	4	130,478,790 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACGTTAGCTGCCCCTAGAAC -3'
(R):5'- CCCAGGTTTAAGCTTGAAGAGG -3'

Sequencing Primer
(F):5'- GAACTGCTACATTAACAGTTAGGC -3'
(R):5'- TTAAGCTTGAAGAGGATCCATGTG -3'

Posted On

2018-05-24