Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:Rnf32'

734800

Institutional Source

Beutler Lab

Gene Symbol

Rnf32

Ensembl Gene

ENSMUSG00000029130

Gene Name

ring finger protein 32

Synonyms

4930542N22Rik, 2700025B22Rik, 1700009J01Rik, Lmbr2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9794 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29400990-29433455 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29429125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 234 (I234T)

Ref Sequence

ENSEMBL: ENSMUSP00000001247 (fasta)

Gene Model

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

AlphaFold

Q9JIT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001247
AA Change: I234T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001247
Gene: ENSMUSG00000029130
AA Change: I234T

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 damaging
Transcript: ENSMUST00000160246
AA Change: I234T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124657
Gene: ENSMUSG00000029130
AA Change: I234T

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

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 damaging
Transcript: ENSMUST00000168460
AA Change: I234T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132213
Gene: ENSMUSG00000029130
AA Change: I234T

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,038 (GRCm39)	I39L	possibly damaging	Het
Acacb	T	C	5: 114,387,578 (GRCm39)	V2415A	probably benign	Het
Adgrg6	C	A	10: 14,314,196 (GRCm39)	G669C	probably damaging	Het
Ahcyl	A	G	16: 45,974,342 (GRCm39)	V345A	probably benign	Het
Arhgdib	A	G	6: 136,906,608 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,501,634 (GRCm39)	V643I	probably benign	Het
Aspm	T	A	1: 139,406,480 (GRCm39)	I1789N	probably damaging	Het
Atm	C	T	9: 53,429,867 (GRCm39)	V390I	probably benign	Het
AW554918	A	G	18: 25,337,031 (GRCm39)	E148G	probably damaging	Het
Bmal2	T	A	6: 146,734,033 (GRCm39)	D543E	probably benign	Het
Camk2a	T	C	18: 61,097,031 (GRCm39)	V327A	probably benign	Het
Celsr3	T	C	9: 108,728,502 (GRCm39)	V3302A	probably benign	Het
Ces2a	G	A	8: 105,467,896 (GRCm39)	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,920 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,509,522 (GRCm39)	*159R	probably null	Het
Cyp2b23	A	T	7: 26,381,121 (GRCm39)	Y79N	probably benign	Het
Dapk1	A	G	13: 60,909,082 (GRCm39)	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,673,154 (GRCm39)	T942S	probably benign	Het
Efnb3	G	A	11: 69,448,232 (GRCm39)	P70L	probably damaging	Het
Eln	G	T	5: 134,751,352 (GRCm39)	Y280*	probably null	Het
Epha8	G	T	4: 136,666,035 (GRCm39)	H374N	probably benign	Het
Erbin	A	T	13: 103,971,359 (GRCm39)	D752E	probably benign	Het
Fam149a	A	G	8: 45,834,449 (GRCm39)	S117P	possibly damaging	Het
Fchsd2	G	A	7: 100,893,410 (GRCm39)	C304Y	probably benign	Het
Galnt6	C	A	15: 100,595,859 (GRCm39)	V390L	probably damaging	Het
Grk3	T	C	5: 113,121,448 (GRCm39)		probably null	Het
Il17rc	A	T	6: 113,453,726 (GRCm39)	T237S	probably benign	Het
Inpp5b	A	G	4: 124,687,174 (GRCm39)	D800G	probably damaging	Het
Itga11	A	G	9: 62,662,868 (GRCm39)	N528S	probably benign	Het
Kif19b	T	A	5: 140,448,070 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,714,708 (GRCm39)	F442L	probably benign	Het
Ldah	G	T	12: 8,318,430 (GRCm39)	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,528,592 (GRCm39)	E5G	probably benign	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Liph	A	T	16: 21,774,862 (GRCm39)	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,703,235 (GRCm39)	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,594,073 (GRCm39)	L168Q	probably damaging	Het
Mideas	T	A	12: 84,220,576 (GRCm39)	Q126L	probably damaging	Het
Mylk4	G	T	13: 32,899,950 (GRCm39)	T312K	probably damaging	Het
Myzap	A	T	9: 71,487,082 (GRCm39)	M15K	probably benign	Het
Ngf	G	A	3: 102,428,132 (GRCm39)	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,264,302 (GRCm39)	I741V	probably benign	Het
Nrxn2	T	C	19: 6,567,064 (GRCm39)	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,334,954 (GRCm39)		probably null	Het
Or13a27	G	A	7: 139,925,483 (GRCm39)	Q140*	probably null	Het
Or5m8	A	G	2: 85,822,464 (GRCm39)	Y101C	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Phykpl	A	T	11: 51,489,212 (GRCm39)	H346L	probably benign	Het
Plk4	C	A	3: 40,759,535 (GRCm39)	L144I	probably damaging	Het
Pole	C	A	5: 110,466,201 (GRCm39)	P1301Q	probably benign	Het
Prkch	T	A	12: 73,744,744 (GRCm39)	N252K	possibly damaging	Het
Psen2	A	T	1: 180,068,294 (GRCm39)		probably null	Het
Ptgds	C	A	2: 25,359,129 (GRCm39)	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,204 (GRCm39)	T765A	probably benign	Het
Rab6b	T	C	9: 103,041,061 (GRCm39)	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335 (GRCm39)	F731L	probably damaging	Het
Resf1	T	A	6: 149,228,239 (GRCm39)	Y428*	probably null	Het
Scart2	G	A	7: 139,874,716 (GRCm39)	G398D	probably damaging	Het
Scn8a	T	A	15: 100,933,332 (GRCm39)	I1512N	probably benign	Het
Senp6	T	A	9: 79,999,590 (GRCm39)	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416 (GRCm39)	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,512,803 (GRCm39)	I185N	possibly damaging	Het
Syne2	C	A	12: 76,047,617 (GRCm39)	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,062,005 (GRCm39)	V1171A	probably benign	Het
Tmem63b	T	C	17: 45,977,252 (GRCm39)	N417S	probably benign	Het
Ttn	A	G	2: 76,706,193 (GRCm39)	V9176A	unknown	Het
Vmn1r210	T	C	13: 23,011,432 (GRCm39)	I285V	probably damaging	Het
Wbp11	C	T	6: 136,795,021 (GRCm39)	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,229,674 (GRCm39)	V950G	probably benign	Het
Zfp110	A	G	7: 12,578,521 (GRCm39)	N144S	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
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
Z1176:Rnf32	UTSW	5	29,430,248 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGATGAGAGTGGAAAGTCCCC -3'
(R):5'- TGAAGCCTACCTGTGCTTGG -3'

Sequencing Primer
(F):5'- GACAGACAGACATCGTGGCC -3'
(R):5'- GAAGCCTACCTGTGCTTGGATTTTC -3'

Posted On

2022-11-14