Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Rnf141'

226766

Institutional Source

Beutler Lab

Gene Symbol

Rnf141

Ensembl Gene

ENSMUSG00000030788

Gene Name

ring finger protein 141

Synonyms

2610110L04Rik, ZFP36, ZNF230

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110800432-110844457 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 110821365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106682] [ENSMUST00000175981] [ENSMUST00000176746] [ENSMUST00000177236] [ENSMUST00000177462]

AlphaFold

Q99MB7

Predicted Effect

probably benign
Transcript: ENSMUST00000106682

SMART Domains

Protein: ENSMUSP00000102293
Gene: ENSMUSG00000030788

Domain	Start	End	E-Value	Type
RING	155	191	3.39e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175648

Predicted Effect

probably benign
Transcript: ENSMUST00000175981

SMART Domains

Protein: ENSMUSP00000135123
Gene: ENSMUSG00000030788

Domain	Start	End	E-Value	Type
RING	58	94	3.39e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176048

Predicted Effect

probably benign
Transcript: ENSMUST00000176210

Predicted Effect

probably benign
Transcript: ENSMUST00000176746

Predicted Effect

probably benign
Transcript: ENSMUST00000177236

SMART Domains

Protein: ENSMUSP00000134781
Gene: ENSMUSG00000030788

Domain	Start	End	E-Value	Type
RING	155	191	3.39e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177462

SMART Domains

Protein: ENSMUSP00000134917
Gene: ENSMUSG00000030788

Domain	Start	End	E-Value	Type
PDB:2ECN\|A	144	180	3e-21	PDB
SCOP:d1fbva4	146	180	3e-7	SMART
Blast:RING	155	180	6e-12	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit decreased litter size but normal spermatogeness and testes weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,689,322		probably benign	Het
Abca2	A	T	2: 25,437,505	I669F	possibly damaging	Het
Acin1	T	A	14: 54,665,254	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,921,755	D72V	probably benign	Het
Alox12e	G	A	11: 70,316,002	R620W	probably damaging	Het
Alpl	T	C	4: 137,749,545		probably benign	Het
Amy2a1	T	C	3: 113,530,568	I108V	probably benign	Het
Ascc2	A	T	11: 4,681,496	M646L	probably benign	Het
Bod1l	G	A	5: 41,817,086	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,278,550		probably null	Het
Clptm1l	C	T	13: 73,607,723	Q153*	probably null	Het
Csmd1	A	G	8: 15,900,782	S3476P	probably benign	Het
Ddias	A	T	7: 92,859,699	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,298,078	L362P	probably benign	Het
Epha1	G	T	6: 42,366,053	H187Q	probably benign	Het
Espl1	T	C	15: 102,299,090	S330P	probably damaging	Het
Fbln7	G	T	2: 128,877,466	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,478,471	W577*	probably null	Het
Fgb	C	A	3: 83,049,689	D25Y	probably benign	Het
Gc	T	A	5: 89,446,517	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,057,754	I178T	probably benign	Het
Gm12695	T	C	4: 96,769,726	T69A	probably benign	Het
Gm3944	C	A	12: 18,853,894	S8*	probably null	Het
Gm9912	T	C	3: 149,185,159	T113A	unknown	Het
Gpr156	A	G	16: 37,978,751	D109G	probably benign	Het
Hoxd1	A	T	2: 74,763,366	T89S	probably benign	Het
Htt	C	T	5: 34,825,982	T975I	probably benign	Het
Itpr3	G	A	17: 27,098,076	M768I	probably benign	Het
Krt4	C	A	15: 101,924,664	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,349,023	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622		probably benign	Het
Myh1	G	A	11: 67,214,620	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,705,478	N43D	probably benign	Het
Napa	A	T	7: 16,115,278		probably benign	Het
Ndufa12	A	G	10: 94,220,707	D99G	probably damaging	Het
Neb	A	G	2: 52,284,263	I1528T	probably benign	Het
Nek1	T	C	8: 61,007,162	S41P	probably damaging	Het
Nolc1	C	T	19: 46,083,607	T612M	probably damaging	Het
Nsun5	T	G	5: 135,375,072	Y301D	probably damaging	Het
Oas1g	T	C	5: 120,885,883	E121G	probably damaging	Het
Olfr1085	G	T	2: 86,658,437	T7K	probably damaging	Het
Olfr1170	A	G	2: 88,224,474	V186A	possibly damaging	Het
Olfr324	A	G	11: 58,597,570	N58S	probably damaging	Het
Olfr397	A	G	11: 73,964,914	Y102C	probably damaging	Het
Olfr522	T	A	7: 140,162,909	I14F	possibly damaging	Het
Olfr910	T	A	9: 38,539,280	N128K	probably benign	Het
Osmr	T	C	15: 6,815,415	N957D	probably benign	Het
Parn	G	A	16: 13,603,069	S473L	probably damaging	Het
Phc2	T	C	4: 128,747,136	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,099,611	S1283P	probably damaging	Het
Pole2	G	A	12: 69,228,152	R5W	probably benign	Het
Prl7a2	T	A	13: 27,660,887	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,389		probably benign	Het
Rapgef3	C	A	15: 97,766,961	G7V	probably damaging	Het
Ripor1	T	A	8: 105,617,708	S491R	probably benign	Het
Ryr3	C	T	2: 112,946,957	R285Q	probably damaging	Het
Sall4	T	C	2: 168,756,545	N125S	probably benign	Het
Schip1	A	G	3: 68,617,786	K360R	probably damaging	Het
Senp6	T	A	9: 80,089,869	V55E	probably benign	Het
Skint1	T	A	4: 112,025,533	V258D	probably benign	Het
Slc25a16	T	A	10: 62,932,751	H130Q	probably benign	Het
Styx	T	C	14: 45,373,563	V217A	probably benign	Het
Syne2	G	A	12: 75,888,342		probably null	Het
Tagap1	A	G	17: 6,956,860	S146P	probably benign	Het
Tatdn2	A	G	6: 113,704,142	K379E	probably benign	Het
Thrap3	T	C	4: 126,175,396	Y654C	possibly damaging	Het
Tle2	T	C	10: 81,580,551	L135P	probably damaging	Het
Tmc1	A	G	19: 20,824,309	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,797,727	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,680,382	R16H	possibly damaging	Het
Ttn	T	C	2: 76,714,373	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 89,104,489	E803G	probably benign	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Ugt2b35	A	G	5: 87,001,553	D221G	probably damaging	Het
Unc45b	G	A	11: 82,911,689	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,634,337	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,524,553	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,853,510	N129S	probably benign	Het
Zgrf1	T	C	3: 127,613,350	C1589R	probably damaging	Het

Other mutations in Rnf141

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Rnf141	APN	7	110833734	unclassified	probably benign
IGL02246:Rnf141	APN	7	110825287	missense	probably benign
IGL02336:Rnf141	APN	7	110837198	nonsense	probably null
R0482:Rnf141	UTSW	7	110837138	nonsense	probably null
R1324:Rnf141	UTSW	7	110816843	nonsense	probably null
R1718:Rnf141	UTSW	7	110821273	missense	probably damaging	1.00
R4151:Rnf141	UTSW	7	110837199	missense	probably benign	0.19
R4867:Rnf141	UTSW	7	110816768	missense	probably damaging	1.00
R4869:Rnf141	UTSW	7	110825350	missense	probably damaging	1.00
R4947:Rnf141	UTSW	7	110825320	missense	possibly damaging	0.66
R5320:Rnf141	UTSW	7	110833803	missense	probably damaging	1.00
R6364:Rnf141	UTSW	7	110821309	missense	possibly damaging	0.75
R8219:Rnf141	UTSW	7	110837265	start gained	probably benign
R8492:Rnf141	UTSW	7	110837200	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGTTGTTTAGTTACAGTCCCAGC -3'
(R):5'- CGGAAAGACTTGAGTTTGCAG -3'

Sequencing Primer
(F):5'- AGTTACAGTCCCAGCTGACCTG -3'
(R):5'- GAAACTTAACATCAGTGTTTCTTCCC -3'

Posted On

2014-09-17