Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00338:Rnf26'

28111

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf26

Ensembl Gene

ENSMUSG00000053128

Gene Name

ring finger protein 26

Synonyms

8030450I18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

IGL00338

Quality Score

Status

Chromosome

Chromosomal Location

44022078-44024348 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44024156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 31 (S31A)

Ref Sequence

ENSEMBL: ENSMUSP00000150766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000056328] [ENSMUST00000065379] [ENSMUST00000114815] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000185479] [ENSMUST00000162126] [ENSMUST00000206295] [ENSMUST00000206308] [ENSMUST00000205500] [ENSMUST00000206769] [ENSMUST00000215685] [ENSMUST00000216511] [ENSMUST00000161381] [ENSMUST00000152956]

AlphaFold

Q8BUH7

Predicted Effect

probably benign
Transcript: ENSMUST00000034654

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	471	577	3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056328
AA Change: S31A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110478
Gene: ENSMUSG00000053128
AA Change: S31A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065379
AA Change: S31A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128
AA Change: S31A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114815

SMART Domains

Protein: ENSMUSP00000110463
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114816

SMART Domains

Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114818

SMART Domains

Protein: ENSMUSP00000110466
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114821

SMART Domains

Protein: ENSMUSP00000110469
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	220	1.01e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185479
AA Change: S31A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409
AA Change: S31A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162126
AA Change: S31A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409
AA Change: S31A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174014

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

probably benign
Transcript: ENSMUST00000206308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181106

Predicted Effect

probably benign
Transcript: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

probably benign
Transcript: ENSMUST00000215685
AA Change: S31A

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216511

Predicted Effect

probably benign
Transcript: ENSMUST00000160985

SMART Domains

Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128

Domain	Start	End	E-Value	Type
RING	11	52	1.57e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216960

Predicted Effect

probably benign
Transcript: ENSMUST00000161381

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	465	576	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152956

SMART Domains

Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
Pfam:Collagen	28	102	7.2e-10	PFAM
Pfam:C1q	105	138	1.5e-6	PFAM

Coding Region Coverage

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 intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	A	G	5: 135,040,839 (GRCm39)	D217G	probably benign	Het
Ankar	T	A	1: 72,729,290 (GRCm39)	Y285F	probably damaging	Het
Ano8	C	A	8: 71,936,902 (GRCm39)		probably benign	Het
Bche	A	G	3: 73,608,640 (GRCm39)	V262A	probably benign	Het
Car13	T	C	3: 14,721,964 (GRCm39)		probably benign	Het
Cd244a	T	A	1: 171,401,938 (GRCm39)		probably null	Het
Cfap157	T	C	2: 32,671,395 (GRCm39)	D137G	probably damaging	Het
Cobl	T	C	11: 12,325,813 (GRCm39)	R119G	possibly damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gp2	A	G	7: 119,053,613 (GRCm39)	M116T	probably damaging	Het
Gp5	C	A	16: 30,127,640 (GRCm39)	A345S	probably benign	Het
Gphn	A	T	12: 78,551,406 (GRCm39)	I285F	probably damaging	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Hecw2	T	C	1: 53,867,040 (GRCm39)		probably benign	Het
Hydin	C	A	8: 111,296,434 (GRCm39)	N3654K	possibly damaging	Het
Inpp5b	A	G	4: 124,678,168 (GRCm39)	Y440C	possibly damaging	Het
Or4a47	A	T	2: 89,665,802 (GRCm39)	Y162*	probably null	Het
Pphln1	A	G	15: 93,363,091 (GRCm39)	K306E	probably damaging	Het
Ros1	A	T	10: 52,001,907 (GRCm39)	S1072T	probably benign	Het
Skic2	A	G	17: 35,065,643 (GRCm39)	W304R	probably damaging	Het
Slc22a14	A	G	9: 119,007,579 (GRCm39)	F277L	possibly damaging	Het
Slc22a26	A	T	19: 7,760,340 (GRCm39)	L468I	probably benign	Het
Tchh	C	T	3: 93,354,951 (GRCm39)	L1464F	unknown	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Ttn	A	G	2: 76,804,409 (GRCm39)	S288P	probably damaging	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vps50	C	T	6: 3,602,670 (GRCm39)	T929M	probably benign	Het
Zdhhc8	A	G	16: 18,043,060 (GRCm39)	L380P	possibly damaging	Het

Other mutations in Rnf26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT1430001:Rnf26	UTSW	9	44,023,942 (GRCm39)	missense	probably damaging	1.00
R4675:Rnf26	UTSW	9	44,023,428 (GRCm39)	missense	probably benign	0.01
R5140:Rnf26	UTSW	9	44,024,071 (GRCm39)	splice site	probably null
T0970:Rnf26	UTSW	9	44,023,369 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17