Incidental Mutation 'R5140:Rnf26'
| ID |
396404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf26
|
| Ensembl Gene |
ENSMUSG00000053128 |
| Gene Name |
ring finger protein 26 |
| Synonyms |
8030450I18Rik |
| MMRRC Submission |
042726-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
R5140 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44022078-44024348 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 44024071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034654]
[ENSMUST00000056328]
[ENSMUST00000065379]
[ENSMUST00000114815]
[ENSMUST00000114816]
[ENSMUST00000114818]
[ENSMUST00000114821]
[ENSMUST00000162126]
[ENSMUST00000185479]
[ENSMUST00000206308]
[ENSMUST00000205500]
[ENSMUST00000206295]
[ENSMUST00000206769]
[ENSMUST00000215685]
[ENSMUST00000216511]
[ENSMUST00000152956]
[ENSMUST00000161381]
|
| 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 damaging
Transcript: ENSMUST00000056328
AA Change: R59L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110478
Gene: ENSMUSG00000053128
AA Change: R59L
| 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 damaging
Transcript: ENSMUST00000065379
AA Change: R59L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128
AA Change: R59L
| 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 damaging
Transcript: ENSMUST00000162126
AA Change: R59L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409
AA Change: R59L
| 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 damaging
Transcript: ENSMUST00000185479
AA Change: R59L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409
AA Change: R59L
| 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: ENSMUST00000206308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181106
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206295
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206769
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215685
AA Change: R59L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216511
|
| 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 |
|
| 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: ENSMUST00000160985
|
| SMART Domains |
Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
11 |
52 |
1.57e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.2490 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (59/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,154 (GRCm39) |
I405N |
probably damaging |
Het |
| Abhd17b |
T |
C |
19: 21,661,545 (GRCm39) |
L244P |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,579,532 (GRCm39) |
C34* |
probably null |
Het |
| Arhgap33 |
A |
G |
7: 30,227,726 (GRCm39) |
V491A |
probably damaging |
Het |
| Cacul1 |
C |
T |
19: 60,551,619 (GRCm39) |
R201Q |
probably benign |
Het |
| Cald1 |
T |
A |
6: 34,730,515 (GRCm39) |
N77K |
probably damaging |
Het |
| Clcn6 |
A |
C |
4: 148,122,774 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
A |
T |
7: 113,846,035 (GRCm39) |
H178Q |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,977,771 (GRCm39) |
V1854I |
probably damaging |
Het |
| Dnajc16 |
T |
G |
4: 141,491,994 (GRCm39) |
T610P |
possibly damaging |
Het |
| Enpp1 |
T |
C |
10: 24,528,750 (GRCm39) |
N624S |
possibly damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,252,459 (GRCm39) |
T310A |
probably benign |
Het |
| Galnt16 |
T |
A |
12: 80,628,073 (GRCm39) |
D256E |
possibly damaging |
Het |
| Gbp11 |
T |
C |
5: 105,478,919 (GRCm39) |
D173G |
probably damaging |
Het |
| Glmn |
A |
G |
5: 107,718,066 (GRCm39) |
S284P |
probably damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,693 (GRCm39) |
|
noncoding transcript |
Het |
| Hs3st6 |
A |
T |
17: 24,977,521 (GRCm39) |
M334L |
probably benign |
Het |
| Idua |
T |
A |
5: 108,828,180 (GRCm39) |
D155E |
probably damaging |
Het |
| Kdm6b |
T |
C |
11: 69,290,881 (GRCm39) |
|
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,461 (GRCm39) |
F272L |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,985,343 (GRCm39) |
K233E |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,328 (GRCm39) |
V250M |
probably damaging |
Het |
| Lhpp |
T |
C |
7: 132,307,361 (GRCm39) |
Y253H |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 53,547,897 (GRCm39) |
L51* |
probably null |
Het |
| Or10ac1 |
T |
C |
6: 42,515,449 (GRCm39) |
H169R |
probably benign |
Het |
| Or1j18 |
T |
A |
2: 36,624,510 (GRCm39) |
M59K |
possibly damaging |
Het |
| Or4a74 |
T |
C |
2: 89,439,627 (GRCm39) |
Y273C |
probably damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,451 (GRCm39) |
K23E |
probably benign |
Het |
| Or56b2 |
T |
C |
7: 104,338,107 (GRCm39) |
M295T |
probably benign |
Het |
| Pcdhb9 |
T |
G |
18: 37,534,186 (GRCm39) |
V60G |
probably benign |
Het |
| Prkce |
T |
C |
17: 86,789,570 (GRCm39) |
V239A |
probably benign |
Het |
| Ralgapa1 |
C |
T |
12: 55,822,937 (GRCm39) |
C293Y |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,712,459 (GRCm39) |
R1804Q |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,884,901 (GRCm39) |
D178G |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,395,511 (GRCm39) |
V178M |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,285,026 (GRCm39) |
|
probably benign |
Het |
| Serpinb9 |
G |
A |
13: 33,190,544 (GRCm39) |
G7R |
probably benign |
Het |
| Setd2 |
C |
A |
9: 110,380,197 (GRCm39) |
D1337E |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,030,449 (GRCm39) |
M222K |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,480,486 (GRCm39) |
Y79H |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,133,155 (GRCm39) |
M297T |
probably damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spcs1 |
A |
G |
14: 30,722,570 (GRCm39) |
L83S |
probably benign |
Het |
| Sult1c2 |
T |
C |
17: 54,276,743 (GRCm39) |
N106S |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,178 (GRCm39) |
R1309Q |
possibly damaging |
Het |
| Ube3c |
T |
A |
5: 29,840,709 (GRCm39) |
F695I |
probably damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,330 (GRCm39) |
L314P |
probably damaging |
Het |
| Usp17le |
C |
T |
7: 104,418,645 (GRCm39) |
E166K |
probably damaging |
Het |
| Vmn2r92 |
G |
A |
17: 18,372,312 (GRCm39) |
D41N |
probably benign |
Het |
|
| Other mutations in Rnf26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Rnf26
|
APN |
9 |
44,024,156 (GRCm39) |
missense |
probably benign |
0.34 |
|
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 |
|
T0970:Rnf26
|
UTSW |
9 |
44,023,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATGGCCATTGGAGACC -3'
(R):5'- GAACTTCGCAGCCCTATCATG -3'
Sequencing Primer
(F):5'- CATGGCCATTGGAGACCATGTTC -3'
(R):5'- CTATCATGGAGGCTGTCTACCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation