Mutagenetix > Incidental Mutation

Incidental Mutation 'R4867:Rnf141'

376237

Institutional Source

Beutler Lab

Gene Symbol

Rnf141

Ensembl Gene

ENSMUSG00000030788

Gene Name

ring finger protein 141

Synonyms

ZFP36, ZNF230, 2610110L04Rik

MMRRC Submission

042477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R4867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110399639-110443664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110415975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 209 (T209A)

Ref Sequence

ENSEMBL: ENSMUSP00000134781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000106682] [ENSMUST00000170374] [ENSMUST00000175981] [ENSMUST00000177236] [ENSMUST00000177462] [ENSMUST00000213373]

AlphaFold

Q99MB7

Predicted Effect

probably benign
Transcript: ENSMUST00000005829

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
Pfam:A_deaminase	309	716	1.5e-139	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106682
AA Change: T209A

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

SMART Domains

Protein: ENSMUSP00000102293
Gene: ENSMUSG00000030788
AA Change: T209A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170374

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
Pfam:A_deaminase	309	716	7.6e-129	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000175648
AA Change: T37A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175981
AA Change: T112A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135123
Gene: ENSMUSG00000030788
AA Change: T112A

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 damaging
Transcript: ENSMUST00000177236
AA Change: T209A

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

SMART Domains

Protein: ENSMUSP00000134781
Gene: ENSMUSG00000030788
AA Change: T209A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000213373

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,366,099 (GRCm39)	I215V	probably damaging	Het
4921509C19Rik	A	T	2: 151,314,742 (GRCm39)	L312*	probably null	Het
9930111J21Rik1	T	A	11: 48,839,375 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,093,205 (GRCm39)	V1023F	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acsbg2	A	G	17: 57,169,914 (GRCm39)	I151T	possibly damaging	Het
Arid1a	G	A	4: 133,448,168 (GRCm39)	S115L	probably benign	Het
B4galnt2	T	C	11: 95,759,252 (GRCm39)	D344G	probably damaging	Het
Ccdc40	T	C	11: 119,122,614 (GRCm39)	S139P	probably benign	Het
Ccnjl	T	C	11: 43,474,055 (GRCm39)	V210A	possibly damaging	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,702,213 (GRCm39)		probably null	Het
Cog4	T	C	8: 111,593,242 (GRCm39)	V451A	probably damaging	Het
Crb1	A	T	1: 139,170,752 (GRCm39)	N818K	probably damaging	Het
Crtc1	T	C	8: 70,855,164 (GRCm39)	D152G	probably damaging	Het
Cse1l	T	A	2: 166,768,323 (GRCm39)	I207N	possibly damaging	Het
Cux1	TGGCAGGCGCG	TG	5: 136,303,815 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,947,235 (GRCm39)	Y272C	possibly damaging	Het
Cyp4f16	T	C	17: 32,769,724 (GRCm39)	F445L	possibly damaging	Het
Dlc1	T	C	8: 37,051,799 (GRCm39)	H644R	probably benign	Het
Ecm2	A	T	13: 49,684,821 (GRCm39)	I643F	probably damaging	Het
Eogt	A	T	6: 97,097,108 (GRCm39)		probably benign	Het
Fbxo41	A	C	6: 85,452,176 (GRCm39)	S777A	probably benign	Het
Fga	T	A	3: 82,935,951 (GRCm39)	D59E	probably benign	Het
Flt3	A	T	5: 147,271,250 (GRCm39)	V897D	probably damaging	Het
Fmn1	G	T	2: 113,414,465 (GRCm39)		probably null	Het
Frem3	T	C	8: 81,339,912 (GRCm39)	L735P	probably damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gabpa	T	A	16: 84,654,356 (GRCm39)	D344E	probably benign	Het
Gtf3a	C	T	5: 146,888,723 (GRCm39)	Q145*	probably null	Het
Il36rn	A	T	2: 24,170,847 (GRCm39)	N48I	probably damaging	Het
Iqca1	A	G	1: 90,017,226 (GRCm39)	L403S	probably benign	Het
Jrk	C	T	15: 74,579,069 (GRCm39)	R72Q	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Krt12	T	C	11: 99,307,789 (GRCm39)	D433G	possibly damaging	Het
Lce1h	A	T	3: 92,670,770 (GRCm39)	S127R	unknown	Het
Lrrc7	T	G	3: 157,866,642 (GRCm39)	Y1033S	probably damaging	Het
Macf1	A	G	4: 123,365,993 (GRCm39)	S1358P	probably damaging	Het
Mfsd1	T	A	3: 67,495,320 (GRCm39)		probably null	Het
Mki67	T	C	7: 135,301,585 (GRCm39)	T1150A	probably damaging	Het
Nadk2	A	G	15: 9,098,946 (GRCm39)	I291M	possibly damaging	Het
Or13g1	T	C	7: 85,955,491 (GRCm39)	T277A	probably benign	Het
Or1j12	A	C	2: 36,343,211 (GRCm39)	M205L	probably benign	Het
Or2r2	A	G	6: 42,464,031 (GRCm39)	V32A	probably benign	Het
Or6e1	T	A	14: 54,520,086 (GRCm39)	T89S	probably benign	Het
Or7g17	A	T	9: 18,768,862 (GRCm39)	I305F	probably benign	Het
Parp14	T	A	16: 35,677,697 (GRCm39)	Y757F	probably benign	Het
Pcdh18	T	C	3: 49,709,113 (GRCm39)	Y734C	probably damaging	Het
Pcnx4	T	C	12: 72,620,726 (GRCm39)	S849P	probably benign	Het
Pds5a	T	C	5: 65,801,463 (GRCm39)	K595E	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Prr5	G	T	15: 84,624,967 (GRCm39)	L46F	probably benign	Het
Ptgdr	G	T	14: 45,096,253 (GRCm39)	P153Q	probably damaging	Het
Rbm12b2	T	C	4: 12,094,805 (GRCm39)	S555P	probably damaging	Het
Rhog	T	G	7: 101,889,357 (GRCm39)	Y32S	probably damaging	Het
Rtkn2	T	C	10: 67,837,757 (GRCm39)	I103T	probably damaging	Het
Scn5a	G	T	9: 119,379,737 (GRCm39)	C182*	probably null	Het
Sema3a	A	G	5: 13,501,208 (GRCm39)	N84D	probably benign	Het
Sema5a	G	T	15: 32,550,436 (GRCm39)	M158I	possibly damaging	Het
Shprh	T	A	10: 11,040,301 (GRCm39)	D71E	probably benign	Het
Slc26a8	A	G	17: 28,882,608 (GRCm39)	I239T	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Ston1	C	T	17: 88,943,122 (GRCm39)	A176V	probably damaging	Het
Sult2a5	T	C	7: 13,357,976 (GRCm39)	S3P	probably benign	Het
Tango6	T	A	8: 107,545,158 (GRCm39)	V1007E	probably damaging	Het
Tank	G	A	2: 61,408,979 (GRCm39)		probably benign	Het
Tas2r124	A	G	6: 132,732,156 (GRCm39)	Y155C	probably damaging	Het
Tenm3	G	A	8: 48,688,856 (GRCm39)	R2244W	probably damaging	Het
Thoc2l	T	C	5: 104,668,868 (GRCm39)	I1130T	possibly damaging	Het
Tlk1	A	T	2: 70,551,915 (GRCm39)	Y585*	probably null	Het
Tmem221	C	T	8: 72,007,784 (GRCm39)	E214K	probably benign	Het
Tmem38a	T	C	8: 73,335,077 (GRCm39)	V172A	possibly damaging	Het
Tspo2	C	T	17: 48,755,705 (GRCm39)	A146T	possibly damaging	Het
Ttc3	G	A	16: 94,255,374 (GRCm39)	A1268T	probably damaging	Het
Usp25	T	A	16: 76,847,355 (GRCm39)	D154E	probably damaging	Het
Usp34	T	C	11: 23,401,999 (GRCm39)	F2410L	probably benign	Het
Vmn1r128	T	A	7: 21,083,939 (GRCm39)	H214Q	possibly damaging	Het
Vmn1r24	A	C	6: 57,933,421 (GRCm39)	C32W	probably damaging	Het
Zfp931	T	A	2: 177,709,855 (GRCm39)	H177L	probably damaging	Het
Znrf1	T	C	8: 112,264,198 (GRCm39)		probably null	Het

Other mutations in Rnf141

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Rnf141	APN	7	110,432,941 (GRCm39)	unclassified	probably benign
IGL02246:Rnf141	APN	7	110,424,494 (GRCm39)	missense	probably benign
IGL02336:Rnf141	APN	7	110,436,405 (GRCm39)	nonsense	probably null
R0482:Rnf141	UTSW	7	110,436,345 (GRCm39)	nonsense	probably null
R1324:Rnf141	UTSW	7	110,416,050 (GRCm39)	nonsense	probably null
R1718:Rnf141	UTSW	7	110,420,480 (GRCm39)	missense	probably damaging	1.00
R2067:Rnf141	UTSW	7	110,420,572 (GRCm39)	splice site	probably benign
R4151:Rnf141	UTSW	7	110,436,406 (GRCm39)	missense	probably benign	0.19
R4869:Rnf141	UTSW	7	110,424,557 (GRCm39)	missense	probably damaging	1.00
R4947:Rnf141	UTSW	7	110,424,527 (GRCm39)	missense	possibly damaging	0.66
R5320:Rnf141	UTSW	7	110,433,010 (GRCm39)	missense	probably damaging	1.00
R6364:Rnf141	UTSW	7	110,420,516 (GRCm39)	missense	possibly damaging	0.75
R8219:Rnf141	UTSW	7	110,436,472 (GRCm39)	start gained	probably benign
R8492:Rnf141	UTSW	7	110,436,407 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GAGGGTGGGAAAACTGATATTTCTG -3'
(R):5'- AGGCAACCAGTTGATCCTG -3'

Sequencing Primer
(F):5'- AACTGATATTTCTGTGTGTGCCAC -3'
(R):5'- ATTGCACATTTCTATGTTGTTTGC -3'

Posted On

2016-03-17