Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Rnf24'

457766

Institutional Source

Beutler Lab

Gene Symbol

Rnf24

Ensembl Gene

ENSMUSG00000048911

Gene Name

ring finger protein 24

Synonyms

C86507, 2810473M14Rik, D2Ertd504e, 4930505A13Rik

MMRRC Submission

044089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131298064-131352892 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 131322245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059372] [ENSMUST00000110194] [ENSMUST00000183902]

AlphaFold

Q8BGI1

Predicted Effect

probably benign
Transcript: ENSMUST00000059372

SMART Domains

Protein: ENSMUSP00000058630
Gene: ENSMUSG00000048911

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
RING	78	118	2.71e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110194

SMART Domains

Protein: ENSMUSP00000105823
Gene: ENSMUSG00000048911

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
RING	78	118	2.71e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142982

Predicted Effect

probably benign
Transcript: ENSMUST00000183902

SMART Domains

Protein: ENSMUSP00000139130
Gene: ENSMUSG00000048911

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that contains a RING-type zinc finger. The encoded protein may interact with multiple transient receptor potential cation channel subfamily C (TRPC) proteins and regulate the trafficking and insertion of these proteins into the plasma membrane. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671 (GRCm38)	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095 (GRCm38)	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943 (GRCm38)	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919 (GRCm38)	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190 (GRCm38)	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547 (GRCm38)	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532 (GRCm38)	F186L	probably benign	Het
C3	T	A	17: 57,214,831 (GRCm38)	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464 (GRCm38)	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726 (GRCm38)	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291 (GRCm38)		probably null	Het
Chd7	G	A	4: 8,866,382 (GRCm38)	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572 (GRCm38)	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813 (GRCm38)	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737 (GRCm38)	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234 (GRCm38)		probably benign	Het
Dlg1	T	C	16: 31,791,886 (GRCm38)		probably null	Het
Dock3	A	G	9: 107,023,803 (GRCm38)	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237 (GRCm38)	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915 (GRCm38)	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594 (GRCm38)	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719 (GRCm38)	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725 (GRCm38)	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463 (GRCm38)		probably null	Het
Gata2	T	C	6: 88,200,740 (GRCm38)	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697 (GRCm38)	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393 (GRCm38)	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303 (GRCm38)	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401 (GRCm38)		probably benign	Het
Gm15517	A	T	7: 44,260,642 (GRCm38)		probably benign	Het
Haus4	T	C	14: 54,544,219 (GRCm38)	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407 (GRCm38)	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610 (GRCm38)	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649 (GRCm38)	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345 (GRCm38)	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110 (GRCm38)	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217 (GRCm38)	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795 (GRCm38)	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453 (GRCm38)	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845 (GRCm38)	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515 (GRCm38)	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146 (GRCm38)	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512 (GRCm38)	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820 (GRCm38)	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384 (GRCm38)	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035 (GRCm38)	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059 (GRCm38)		probably benign	Het
Mmp25	T	C	17: 23,631,074 (GRCm38)	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506 (GRCm38)	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723 (GRCm38)		probably null	Het
Muc5b	T	G	7: 141,858,421 (GRCm38)	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641 (GRCm38)	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089 (GRCm38)	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800 (GRCm38)	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339 (GRCm38)	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087 (GRCm38)	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085 (GRCm38)	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144 (GRCm38)	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244 (GRCm38)		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925 (GRCm38)	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799 (GRCm38)	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743 (GRCm38)	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032 (GRCm38)	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967 (GRCm38)	Y259*	probably null	Het
P2rx4	T	G	5: 122,727,208 (GRCm38)	Y299D	probably damaging	Het
P2rx4	T	A	5: 122,719,165 (GRCm38)	S155T	probably benign	Het
Pcsk6	A	T	7: 66,043,624 (GRCm38)	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797 (GRCm38)		silent	Het
Pfkl	A	G	10: 77,991,370 (GRCm38)	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364 (GRCm38)	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350 (GRCm38)	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287 (GRCm38)	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314 (GRCm38)		probably null	Het
Scn3a	A	G	2: 65,497,398 (GRCm38)	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285 (GRCm38)	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021 (GRCm38)	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694 (GRCm38)	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028 (GRCm38)	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525 (GRCm38)	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296 (GRCm38)	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300 (GRCm38)	N410K	unknown	Het
Supt20	G	T	3: 54,712,207 (GRCm38)	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496 (GRCm38)	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484 (GRCm38)	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320 (GRCm38)	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403 (GRCm38)	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367 (GRCm38)	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870 (GRCm38)	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565 (GRCm38)	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855 (GRCm38)	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258 (GRCm38)	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627 (GRCm38)	S32A	probably benign	Het

Other mutations in Rnf24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Rnf24	APN	2	131,305,693 (GRCm38)	missense	possibly damaging	0.46
R7444:Rnf24	UTSW	2	131,313,295 (GRCm38)	missense	probably damaging	1.00
R7661:Rnf24	UTSW	2	131,322,215 (GRCm38)	intron	probably benign
R7737:Rnf24	UTSW	2	131,303,496 (GRCm38)	missense	probably benign
R8086:Rnf24	UTSW	2	131,303,548 (GRCm38)	missense	probably benign	0.23
R8992:Rnf24	UTSW	2	131,313,277 (GRCm38)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACCATTCACTGCTAGTTGGG -3'
(R):5'- ATGATATCCGTTTATGAGAGGAGAGC -3'

Sequencing Primer
(F):5'- TCACTGCTAGTTGGGAACAC -3'
(R):5'- CTCAGAGGTCTTGCCGATTAATAC -3'

Posted On

2017-02-15