Mutagenetix > Incidental Mutations

Incidental Mutation 'R7102:Rnf113a2'

550940

Institutional Source

Beutler Lab

Gene Symbol

Rnf113a2

Ensembl Gene

ENSMUSG00000098134

Gene Name

ring finger protein 113A2

Synonyms

2310020H19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R7102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84417196-84418578 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84417771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 146 (G146S)

Ref Sequence

ENSEMBL: ENSMUSP00000138536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000151789] [ENSMUST00000153540] [ENSMUST00000183146]

AlphaFold

Q14B01

Predicted Effect

probably benign
Transcript: ENSMUST00000081828

SMART Domains

Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
low complexity region	4	29	N/A	INTRINSIC
Pfam:DUF4515	83	276	1.8e-44	PFAM
coiled coil region	277	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151789

SMART Domains

Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
Pfam:DUF4515	1	138	6.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153540

SMART Domains

Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265

Domain	Start	End	E-Value	Type
Pfam:DUF4515	1	105	3.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183146
AA Change: G146S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138536
Gene: ENSMUSG00000098134
AA Change: G146S

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC
ZnF_C3H1	196	223	1.8e-7	SMART
RING	262	299	4.05e-5	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,595	T53S	probably benign	Het
4932438A13Rik	T	G	3: 36,940,798	Y990D	probably damaging	Het
Abca13	A	T	11: 9,335,215	H3283L	probably damaging	Het
Abcb1a	T	G	5: 8,694,072	S233A	probably benign	Het
Actr10	T	C	12: 70,953,031		probably null	Het
Acvr2b	C	T	9: 119,432,553	A380V	probably damaging	Het
Adcy5	A	G	16: 35,299,625	E1168G	probably damaging	Het
Akap12	C	T	10: 4,353,226	T117I	probably damaging	Het
Alox5	T	A	6: 116,413,468	Y516F	probably benign	Het
Amigo2	T	C	15: 97,245,860	N227S	probably damaging	Het
Anpep	C	A	7: 79,836,313	V554L	probably benign	Het
Ap5b1	T	A	19: 5,570,187	V545E	possibly damaging	Het
Bbs9	C	T	9: 22,579,553	L326F	probably damaging	Het
Cadps	C	T	14: 12,603,738	G361R	probably damaging	Het
Ccdc57	C	A	11: 120,921,731	E66*	probably null	Het
Ccr6	G	A	17: 8,256,187	V75I	probably benign	Het
Cdk6	T	C	5: 3,520,709	F300S	probably damaging	Het
Cenpb	A	C	2: 131,178,879	V333G	probably damaging	Het
Clca4a	T	C	3: 144,961,909	I434V	probably benign	Het
Coro2b	T	A	9: 62,421,385	D447V	possibly damaging	Het
Cpeb3	T	C	19: 37,174,719	S86G	probably benign	Het
Cry2	C	A	2: 92,413,093	A468S	probably damaging	Het
Csf2rb2	T	C	15: 78,297,072	Y40C	probably damaging	Het
Ddx49	T	A	8: 70,301,076	T48S	probably damaging	Het
Dip2c	A	G	13: 9,604,536	T727A	probably benign	Het
Ebf4	A	T	2: 130,309,731	I183F	probably benign	Het
Elavl3	G	T	9: 22,018,729	P293Q	possibly damaging	Het
Esyt1	A	T	10: 128,516,236	L768Q	probably damaging	Het
Fam45a	T	A	19: 60,832,596	M272K	probably damaging	Het
Fat2	G	A	11: 55,283,434	P2151L	probably damaging	Het
Fgfbp3	G	T	19: 36,919,206	A4E	possibly damaging	Het
Flg	T	A	3: 93,293,028	V277D	unknown	Het
Fndc3b	T	C	3: 27,470,234	D459G	possibly damaging	Het
Fras1	A	G	5: 96,571,041	Q438R	probably benign	Het
Glipr1l2	A	T	10: 112,092,425		probably null	Het
Gm7347	T	A	5: 26,057,384		probably null	Het
Grm6	G	A	11: 50,862,977	V703I	possibly damaging	Het
Gtf2h1	T	A	7: 46,819,126	V496E	probably benign	Het
Ifna12	A	G	4: 88,603,151	L53P	probably damaging	Het
Invs	T	A	4: 48,407,674	S550T	probably benign	Het
Irak2	G	T	6: 113,686,849	C453F	probably damaging	Het
Itih2	G	T	2: 10,105,763	Q506K	probably benign	Het
Kidins220	T	C	12: 25,057,663	I1614T	probably benign	Het
Krtap5-3	T	A	7: 142,202,255	C276*	probably null	Het
Lama3	T	A	18: 12,552,813	M1128K	possibly damaging	Het
Lhfpl4	C	T	6: 113,194,145	A27T	possibly damaging	Het
Lyplal1	A	G	1: 186,100,327	V77A	probably damaging	Het
Malrd1	A	T	2: 16,142,303	E1985D	unknown	Het
Mlx	A	C	11: 101,088,976	Q161P	probably benign	Het
Mroh2b	T	A	15: 4,948,003	M1279K	probably benign	Het
Myh7b	A	G	2: 155,622,199	E540G	probably damaging	Het
Neb	T	A	2: 52,304,055	D653V	probably damaging	Het
Nek10	T	A	14: 14,828,517	L113Q	probably damaging	Het
Nlrp4c	T	A	7: 6,065,709	L203*	probably null	Het
Ntpcr	T	A	8: 125,730,055	C5S	unknown	Het
Nwd1	A	G	8: 72,695,329	D1001G	probably damaging	Het
Olfr1184	T	A	2: 88,487,148	C139S	probably damaging	Het
Olfr294	C	T	7: 86,616,267	C126Y	probably benign	Het
Olfr536	T	A	7: 140,504,316	T48S	probably benign	Het
Olfr784	A	C	10: 129,388,167	D178A	probably damaging	Het
Osbpl3	T	A	6: 50,320,135	S564C	probably damaging	Het
Pax6	C	A	2: 105,692,259	P264T	probably damaging	Het
Plppr4	T	C	3: 117,323,183	R342G	probably damaging	Het
Prg4	C	T	1: 150,452,254	C220Y	probably damaging	Het
Prune2	T	A	19: 17,121,213	D1360E	probably benign	Het
Ranbp2	T	A	10: 58,463,950	S469T	probably damaging	Het
Rbfox1	A	T	16: 7,369,834	K43N	probably benign	Het
Rgs22	T	C	15: 36,122,313	D25G	probably damaging	Het
Sbpl	T	A	17: 23,954,634	K55*	probably null	Het
Scel	G	A	14: 103,543,832	W138*	probably null	Het
Scgb2b19	T	C	7: 33,280,286	I12V	probably null	Het
Scn9a	T	A	2: 66,549,015	M358L	probably damaging	Het
Sdk2	C	A	11: 113,842,690	E924*	probably null	Het
Sipa1l3	T	C	7: 29,348,587	Q1292R	possibly damaging	Het
Skint4	G	A	4: 112,118,101	G86D	probably damaging	Het
Slc28a3	C	T	13: 58,588,214	V57I	probably benign	Het
Slc9a4	C	T	1: 40,580,639	P42S	probably benign	Het
Slc9a4	T	C	1: 40,623,399	S609P	probably damaging	Het
Slitrk1	T	A	14: 108,912,629	T217S	probably benign	Het
Spindoc	C	T	19: 7,358,442	R327H	probably benign	Het
Stk36	T	C	1: 74,622,223	S470P	probably benign	Het
Sypl	C	T	12: 32,974,255	P196L	probably benign	Het
Tekt4	T	A	17: 25,474,744	I285N	probably damaging	Het
Tgm5	T	A	2: 121,046,498	I686F	possibly damaging	Het
Thsd4	C	A	9: 59,976,304	R933L	probably damaging	Het
Treml1	T	A	17: 48,366,672	I237N	probably damaging	Het
Txndc16	T	C	14: 45,205,382	I119V	probably benign	Het
Ubr3	C	A	2: 69,897,822	N176K	probably damaging	Het
Vit	A	G	17: 78,624,997	Y511C	probably damaging	Het
Vwa5b2	G	A	16: 20,604,234	G994D	probably benign	Het
Wdr63	A	T	3: 146,055,704	S632R	possibly damaging	Het
Wnk1	T	C	6: 119,948,307	T1648A	unknown	Het
Ythdf1	G	A	2: 180,911,522	T300I	probably damaging	Het
Zan	A	G	5: 137,454,200		probably null	Het
Zbbx	A	G	3: 75,112,094	L103P	probably benign	Het
Zfp105	A	G	9: 122,929,804	D180G	probably damaging	Het
Zfp114	T	A	7: 24,180,658	L144Q	possibly damaging	Het
Zfp128	T	C	7: 12,890,472	C256R	probably damaging	Het

Other mutations in Rnf113a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03059:Rnf113a2	APN	12	84417476	missense	possibly damaging	0.69
IGL03123:Rnf113a2	APN	12	84418276	missense	probably benign	0.21
R4826:Rnf113a2	UTSW	12	84417614	missense	probably benign
R5194:Rnf113a2	UTSW	12	84417337	start codon destroyed	probably null	0.08
R6031:Rnf113a2	UTSW	12	84417990	missense	probably damaging	1.00
R6031:Rnf113a2	UTSW	12	84417990	missense	probably damaging	1.00
R7246:Rnf113a2	UTSW	12	84417677	missense	possibly damaging	0.81
R7307:Rnf113a2	UTSW	12	84418179	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGGGGCCTACTGTGATCTG -3'
(R):5'- AAGCCAGTCTCCTTGTAGTCC -3'

Sequencing Primer
(F):5'- CTACTGTGATCTGAGCAGCG -3'
(R):5'- GTAGTCCTTACAAATATCAGGCTGG -3'

Posted On

2019-05-15