Mutagenetix > Incidental Mutation

Incidental Mutation 'R7737:Rnf24'

596306

Institutional Source

Beutler Lab

Gene Symbol

Rnf24

Ensembl Gene

ENSMUSG00000048911

Gene Name

ring finger protein 24

Synonyms

2810473M14Rik, D2Ertd504e, 4930505A13Rik, C86507

MMRRC Submission

045793-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131139984-131194766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131145416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 131 (K131N)

Ref Sequence

ENSEMBL: ENSMUSP00000058630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059372] [ENSMUST00000110194] [ENSMUST00000150843] [ENSMUST00000165420] [ENSMUST00000183902] [ENSMUST00000184932]

AlphaFold

Q8BGI1

Predicted Effect

probably benign
Transcript: ENSMUST00000059372
AA Change: K131N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058630
Gene: ENSMUSG00000048911
AA Change: K131N

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
AA Change: K131N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105823
Gene: ENSMUSG00000048911
AA Change: K131N

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: ENSMUST00000150843

SMART Domains

Protein: ENSMUSP00000119606
Gene: ENSMUSG00000037514

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	28	54	N/A	INTRINSIC
Pfam:Fumble	86	438	8.8e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165420
AA Change: K131N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129843
Gene: ENSMUSG00000048911
AA Change: K131N

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: ENSMUST00000183902

SMART Domains

Protein: ENSMUSP00000139130
Gene: ENSMUSG00000048911

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184932

SMART Domains

Protein: ENSMUSP00000139259
Gene: ENSMUSG00000037514

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	28	54	N/A	INTRINSIC
Pfam:Fumble	85	151	1e-12	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,463,566 (GRCm39)		probably null	Het
Akap3	T	A	6: 126,851,065 (GRCm39)	M861K	probably damaging	Het
Ankrd42	T	C	7: 92,254,470 (GRCm39)	T380A	possibly damaging	Het
Arhgef5	A	G	6: 43,250,728 (GRCm39)	E493G	possibly damaging	Het
Arvcf	G	A	16: 18,214,966 (GRCm39)	R119Q	probably damaging	Het
Asmt	T	C	X: 169,110,175 (GRCm39)	F228S	probably damaging	Het
Atp2c2	T	A	8: 120,469,134 (GRCm39)	V349E	probably damaging	Het
BC034090	A	G	1: 155,117,419 (GRCm39)	V233A	possibly damaging	Het
Brinp3	G	T	1: 146,558,332 (GRCm39)	K85N	probably damaging	Het
Ccr6	G	A	17: 8,463,926 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Ddb1	C	T	19: 10,603,338 (GRCm39)	A882V	possibly damaging	Het
Epha4	C	T	1: 77,357,649 (GRCm39)	G783D	probably damaging	Het
Ephb1	T	A	9: 101,861,302 (GRCm39)	I621F	probably damaging	Het
Fbxw18	G	T	9: 109,530,331 (GRCm39)	Y93*	probably null	Het
Fcgbpl1	T	A	7: 27,856,498 (GRCm39)	V2095E	probably damaging	Het
Gak	A	C	5: 108,764,874 (GRCm39)	L84R	probably benign	Het
Gm5458	A	T	14: 19,649,805 (GRCm39)		probably null	Het
Gpatch3	C	G	4: 133,302,407 (GRCm39)	Q113E	probably benign	Het
Gpld1	C	A	13: 25,159,709 (GRCm39)	L426M	probably damaging	Het
Ighmbp2	G	A	19: 3,324,467 (GRCm39)	P234S	unknown	Het
Itga6	G	A	2: 71,652,787 (GRCm39)	V217I	probably benign	Het
Kdm7a	A	T	6: 39,121,338 (GRCm39)	N872K	probably benign	Het
Klhl14	G	T	18: 21,691,191 (GRCm39)	Y446*	probably null	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lct	A	T	1: 128,226,430 (GRCm39)	W1320R	probably benign	Het
Lrp2	T	C	2: 69,326,782 (GRCm39)	D1763G	possibly damaging	Het
Lrrk2	A	T	15: 91,699,649 (GRCm39)	N2499Y	probably damaging	Het
Lsg1	T	C	16: 30,400,003 (GRCm39)		probably null	Het
Mettl15	T	C	2: 108,967,723 (GRCm39)	K188E	probably damaging	Het
Mfsd4b1	A	G	10: 39,879,274 (GRCm39)	S208P	probably damaging	Het
Mlxipl	T	C	5: 135,164,235 (GRCm39)	S793P	possibly damaging	Het
Ms4a14	G	A	19: 11,280,150 (GRCm39)	Q803*	probably null	Het
Mtor	A	C	4: 148,623,195 (GRCm39)	E2015A	possibly damaging	Het
Myo15b	A	T	11: 115,778,749 (GRCm39)	Y2581F	unknown	Het
Myo7b	A	T	18: 32,147,257 (GRCm39)	Y95*	probably null	Het
Nf1	A	G	11: 79,436,314 (GRCm39)	I1985V	probably benign	Het
Noxred1	G	A	12: 87,268,136 (GRCm39)	Q332*	probably null	Het
Nudt21	A	T	8: 94,749,461 (GRCm39)	Y202N	probably damaging	Het
Odad2	A	G	18: 7,217,890 (GRCm39)	L608P	probably damaging	Het
Or1j16	A	T	2: 36,530,632 (GRCm39)	I194F	probably benign	Het
Pik3c2a	A	T	7: 115,955,488 (GRCm39)	S1176T	probably damaging	Het
Pramel14	A	C	4: 143,718,526 (GRCm39)	S306A	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rbmxl1	A	G	8: 79,232,252 (GRCm39)	S364P	unknown	Het
Scai	T	A	2: 39,013,034 (GRCm39)	Q132L	probably damaging	Het
Sh3tc1	T	C	5: 35,881,297 (GRCm39)	R49G	probably benign	Het
Slc12a7	A	G	13: 73,936,796 (GRCm39)	E152G	probably benign	Het
Slc22a27	A	T	19: 7,874,127 (GRCm39)	M316K	probably damaging	Het
Spag1	G	T	15: 36,210,856 (GRCm39)	A427S	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Stk16	G	T	1: 75,187,995 (GRCm39)	C8F	probably damaging	Het
Syne2	T	C	12: 75,989,622 (GRCm39)	C1834R	probably damaging	Het
Tie1	C	T	4: 118,336,054 (GRCm39)		probably null	Het
Timp2	A	G	11: 118,194,721 (GRCm39)	I156T	probably damaging	Het
Tmem163	A	G	1: 127,419,347 (GRCm39)	M286T	possibly damaging	Het
Tmx4	T	A	2: 134,481,588 (GRCm39)	M112L	probably benign	Het
Trank1	G	T	9: 111,195,080 (GRCm39)	E1035*	probably null	Het
Trim5	C	T	7: 103,928,771 (GRCm39)	V57M	probably damaging	Het
Ubr3	A	G	2: 69,821,910 (GRCm39)	S1391G	probably benign	Het
Vmn1r72	A	T	7: 11,403,634 (GRCm39)	S271R	probably damaging	Het
Xpo5	G	A	17: 46,547,016 (GRCm39)		probably null	Het
Zfp592	A	T	7: 80,674,941 (GRCm39)	H635L	probably damaging	Het
Zfp791	A	T	8: 85,838,844 (GRCm39)	N62K	probably benign	Het
Zfp998	A	G	13: 66,581,738 (GRCm39)		probably null	Het
Zmynd11	G	A	13: 9,745,175 (GRCm39)	T248M	probably damaging	Het

Other mutations in Rnf24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Rnf24	APN	2	131,147,613 (GRCm39)	missense	possibly damaging	0.46
R5888:Rnf24	UTSW	2	131,164,165 (GRCm39)	intron	probably benign
R7444:Rnf24	UTSW	2	131,155,215 (GRCm39)	missense	probably damaging	1.00
R7661:Rnf24	UTSW	2	131,164,135 (GRCm39)	intron	probably benign
R8086:Rnf24	UTSW	2	131,145,468 (GRCm39)	missense	probably benign	0.23
R8992:Rnf24	UTSW	2	131,155,197 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GTCACAAGATCCAGATGCCTG -3'
(R):5'- CGCTGGCTTTGTGTAACTGAC -3'

Sequencing Primer
(F):5'- GCTCAAGAGTTCTTCATGAGGC -3'
(R):5'- GCTTTGTGTAACTGACAGTCTC -3'

Posted On

2019-11-26