Mutagenetix > Incidental Mutation

Incidental Mutation 'R0038:Rnf32'

32802

Institutional Source

Beutler Lab

Gene Symbol

Rnf32

Ensembl Gene

ENSMUSG00000029130

Gene Name

ring finger protein 32

Synonyms

4930542N22Rik, 2700025B22Rik, 1700009J01Rik, Lmbr2

MMRRC Submission

038332-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R0038 (G1)

Quality Score

126

Status

Validated (trace)

Chromosome

Chromosomal Location

29400990-29433455 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 29410652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001247] [ENSMUST00000160246] [ENSMUST00000160383] [ENSMUST00000160888] [ENSMUST00000161398] [ENSMUST00000168460] [ENSMUST00000198669]

AlphaFold

Q9JIT1

Predicted Effect

probably benign
Transcript: ENSMUST00000001247

SMART Domains

Protein: ENSMUSP00000001247
Gene: ENSMUSG00000029130

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	41	55	N/A	INTRINSIC
low complexity region	97	107	N/A	INTRINSIC
RING	129	170	4.8e-7	SMART
IQ	187	209	1.23e-1	SMART
RING	295	357	3.84e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160246

SMART Domains

Protein: ENSMUSP00000124657
Gene: ENSMUSG00000029130

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	41	55	N/A	INTRINSIC
low complexity region	97	107	N/A	INTRINSIC
RING	129	170	4.8e-7	SMART
IQ	187	209	1.23e-1	SMART
RING	295	357	3.84e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160383

SMART Domains

Protein: ENSMUSP00000125515
Gene: ENSMUSG00000029130

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	41	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160887

Predicted Effect

probably benign
Transcript: ENSMUST00000160888

SMART Domains

Protein: ENSMUSP00000124499
Gene: ENSMUSG00000029130

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	41	55	N/A	INTRINSIC
low complexity region	97	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161398

SMART Domains

Protein: ENSMUSP00000125741
Gene: ENSMUSG00000029130

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	24	38	N/A	INTRINSIC
low complexity region	80	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162975

SMART Domains

Protein: ENSMUSP00000123952
Gene: ENSMUSG00000029130

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	60	70	N/A	INTRINSIC
RING	92	133	4.8e-7	SMART
IQ	150	172	1.23e-1	SMART
RING	202	264	3.84e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168460

SMART Domains

Protein: ENSMUSP00000132213
Gene: ENSMUSG00000029130

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	41	55	N/A	INTRINSIC
low complexity region	97	107	N/A	INTRINSIC
RING	129	170	4.8e-7	SMART
IQ	187	209	1.23e-1	SMART
RING	295	357	3.84e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198669

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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 two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,863,823 (GRCm39)		probably benign	Het
Ankrd28	A	T	14: 31,429,992 (GRCm39)	M892K	probably damaging	Het
Arhgef25	T	C	10: 127,022,734 (GRCm39)		probably benign	Het
Arl9	G	A	5: 77,154,322 (GRCm39)	E17K	probably benign	Het
Bbs9	G	A	9: 22,415,390 (GRCm39)	V105I	probably benign	Het
Celsr1	A	T	15: 85,813,620 (GRCm39)	N1997K	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cldn8	A	G	16: 88,359,922 (GRCm39)	M1T	probably null	Het
Clec11a	A	G	7: 43,955,906 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col19a1	A	T	1: 24,598,825 (GRCm39)	L56Q	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp2b10	G	A	7: 25,614,287 (GRCm39)	A254T	probably benign	Het
Ddx39a	T	C	8: 84,449,127 (GRCm39)	L305P	probably damaging	Het
Depdc5	A	G	5: 33,026,197 (GRCm39)	E60G	probably benign	Het
Eif2ak2	T	A	17: 79,171,384 (GRCm39)	M340L	probably benign	Het
Etl4	A	T	2: 20,748,385 (GRCm39)	H39L	probably damaging	Het
Fat3	T	C	9: 15,826,306 (GRCm39)	T4549A	probably damaging	Het
Fbxw28	A	T	9: 109,167,608 (GRCm39)	W50R	probably damaging	Het
Ggt7	T	C	2: 155,344,701 (GRCm39)	D214G	probably benign	Het
Gramd1b	G	A	9: 40,228,822 (GRCm39)	T252M	probably damaging	Het
Grin1	T	C	2: 25,187,471 (GRCm39)	N613S	probably null	Het
Hcrtr2	A	T	9: 76,166,963 (GRCm39)	S125T	probably benign	Het
Hr	T	C	14: 70,805,525 (GRCm39)	L1091P	probably damaging	Het
Htr2a	T	G	14: 74,943,687 (GRCm39)	S422R	probably benign	Het
Ighmbp2	A	G	19: 3,312,097 (GRCm39)	S886P	probably damaging	Het
Iqcg	C	A	16: 32,866,012 (GRCm39)	L110F	probably benign	Het
Kirrel3	T	A	9: 34,823,066 (GRCm39)		probably null	Het
Kremen1	A	C	11: 5,157,703 (GRCm39)		probably benign	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Lin52	C	G	12: 84,576,499 (GRCm39)	L111V	probably damaging	Het
Myh15	T	C	16: 48,891,504 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Nlrp1b	A	G	11: 71,062,997 (GRCm39)	S685P	possibly damaging	Het
Oog4	T	C	4: 143,165,514 (GRCm39)	D211G	probably benign	Het
Oscar	A	G	7: 3,619,072 (GRCm39)	V2A	probably benign	Het
Pdzd8	A	G	19: 59,288,028 (GRCm39)	I1124T	possibly damaging	Het
Pgm3	A	T	9: 86,446,726 (GRCm39)		probably benign	Het
Pnpla5	A	G	15: 84,006,714 (GRCm39)	Y90H	probably damaging	Het
Polr1b	C	T	2: 128,957,588 (GRCm39)	R548*	probably null	Het
Ptprg	T	A	14: 12,213,710 (GRCm38)	M1026K	probably damaging	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rapgef2	T	C	3: 78,976,703 (GRCm39)	I1368V	probably benign	Het
Rnf168	T	C	16: 32,117,813 (GRCm39)	V458A	probably benign	Het
Sclt1	T	C	3: 41,583,943 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,216 (GRCm39)	F139L	probably damaging	Het
Sos2	T	G	12: 69,643,467 (GRCm39)	Q971P	probably damaging	Het
Stag3	T	A	5: 138,299,298 (GRCm39)		probably null	Het
Stard5	T	C	7: 83,285,951 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,526,313 (GRCm39)	C857S	probably benign	Het
Suclg1	A	G	6: 73,237,486 (GRCm39)	E77G	probably benign	Het
Trpm7	A	G	2: 126,637,388 (GRCm39)	S204P	probably damaging	Het
Ush2a	G	T	1: 188,358,809 (GRCm39)	G2112C	probably benign	Het
Vmn2r15	T	A	5: 109,441,010 (GRCm39)	T283S	possibly damaging	Het
Wdr6	A	T	9: 108,450,168 (GRCm39)	V1120D	probably damaging	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Rnf32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Rnf32	APN	5	29,429,272 (GRCm39)	missense	probably damaging	1.00
IGL01786:Rnf32	APN	5	29,411,812 (GRCm39)	unclassified	probably benign
IGL02832:Rnf32	APN	5	29,410,701 (GRCm39)	critical splice donor site	probably null
IGL02976:Rnf32	APN	5	29,411,710 (GRCm39)	splice site	probably null
R0038:Rnf32	UTSW	5	29,410,652 (GRCm39)	unclassified	probably benign
R0070:Rnf32	UTSW	5	29,430,125 (GRCm39)	missense	probably benign	0.00
R1812:Rnf32	UTSW	5	29,411,258 (GRCm39)	missense	possibly damaging	0.88
R2279:Rnf32	UTSW	5	29,430,278 (GRCm39)	missense	probably benign	0.36
R4903:Rnf32	UTSW	5	29,403,576 (GRCm39)	missense	probably benign	0.00
R4964:Rnf32	UTSW	5	29,403,576 (GRCm39)	missense	probably benign	0.00
R4966:Rnf32	UTSW	5	29,403,576 (GRCm39)	missense	probably benign	0.00
R5155:Rnf32	UTSW	5	29,408,145 (GRCm39)	missense	probably damaging	1.00
R5987:Rnf32	UTSW	5	29,408,145 (GRCm39)	missense	probably damaging	1.00
R6060:Rnf32	UTSW	5	29,411,752 (GRCm39)	missense	probably benign	0.01
R6374:Rnf32	UTSW	5	29,430,266 (GRCm39)	nonsense	probably null
R7627:Rnf32	UTSW	5	29,402,948 (GRCm39)	start gained	probably benign
R9161:Rnf32	UTSW	5	29,408,058 (GRCm39)	missense	probably damaging	1.00
R9178:Rnf32	UTSW	5	29,411,211 (GRCm39)	missense	possibly damaging	0.54
R9457:Rnf32	UTSW	5	29,411,184 (GRCm39)	missense	probably damaging	1.00
R9494:Rnf32	UTSW	5	29,429,145 (GRCm39)	missense	probably damaging	1.00
R9794:Rnf32	UTSW	5	29,429,125 (GRCm39)	missense	probably damaging	0.96
Z1176:Rnf32	UTSW	5	29,430,248 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCACAGCACATAGACAGGTTTCTCC -3'
(R):5'- TTCACAACAGGATGAGGTGCAGTC -3'

Sequencing Primer
(F):5'- AGCAATGTCTACCTTGGCAATC -3'
(R):5'- GCAGTCTAACCTAAAGCCATGTTTC -3'

Posted On

2013-05-09