Incidental Mutation 'R1316:Rnf149'
| ID |
157533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf149
|
| Ensembl Gene |
ENSMUSG00000048234 |
| Gene Name |
ring finger protein 149 |
| Synonyms |
1600023E10Rik, Greul4 |
| MMRRC Submission |
039382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
39590377-39616486 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 39604401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 45
(*45Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062525]
[ENSMUST00000195136]
[ENSMUST00000195705]
|
| AlphaFold |
Q3U2C5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062525
AA Change: I154T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000050388
Gene: ENSMUSG00000048234
AA Change: I154T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:PA
|
72 |
169 |
3.9e-13 |
PFAM |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
RING
|
265 |
305 |
2.09e-7 |
SMART |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195136
|
| SMART Domains |
Protein: ENSMUSP00000141667
Gene: ENSMUSG00000048234
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
SCOP:d1ldjb_
|
74 |
127 |
3e-3 |
SMART |
|
Blast:RING
|
108 |
127 |
9e-7 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195705
AA Change: *45Q
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Cmpk1 |
A |
G |
4: 114,828,487 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
G |
A |
3: 113,932,619 (GRCm39) |
|
probably null |
Het |
| Ears2 |
T |
C |
7: 121,645,905 (GRCm39) |
T337A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,977,742 (GRCm39) |
K605R |
possibly damaging |
Het |
| Irs3 |
T |
C |
5: 137,642,703 (GRCm39) |
E245G |
probably damaging |
Het |
| Limch1 |
T |
C |
5: 67,156,586 (GRCm39) |
I223T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,816 (GRCm39) |
T3768A |
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,786,444 (GRCm39) |
D195N |
probably damaging |
Het |
| Or5b109 |
T |
C |
19: 13,211,803 (GRCm39) |
F63S |
probably damaging |
Het |
| Or7g25 |
T |
A |
9: 19,160,035 (GRCm39) |
Q220L |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,039 (GRCm39) |
F28S |
possibly damaging |
Het |
| Or8u8 |
T |
C |
2: 86,011,709 (GRCm39) |
S249G |
probably benign |
Het |
| Podxl2 |
A |
G |
6: 88,826,199 (GRCm39) |
L369P |
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,879,583 (GRCm39) |
V957A |
probably benign |
Het |
| Slc4a11 |
T |
A |
2: 130,528,071 (GRCm39) |
E528V |
probably benign |
Het |
| Slc9a1 |
A |
G |
4: 133,149,558 (GRCm39) |
R795G |
possibly damaging |
Het |
| Slco6d1 |
A |
T |
1: 98,394,518 (GRCm39) |
M401L |
probably benign |
Het |
| Tiparp |
T |
G |
3: 65,460,772 (GRCm39) |
F587C |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,939 (GRCm39) |
Q80R |
probably benign |
Het |
|
| Other mutations in Rnf149 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02586:Rnf149
|
APN |
1 |
39,604,296 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2917:Rnf149
|
UTSW |
1 |
39,591,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4690:Rnf149
|
UTSW |
1 |
39,616,295 (GRCm39) |
intron |
probably benign |
|
|
R5095:Rnf149
|
UTSW |
1 |
39,594,737 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6084:Rnf149
|
UTSW |
1 |
39,616,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6338:Rnf149
|
UTSW |
1 |
39,599,823 (GRCm39) |
missense |
probably null |
1.00 |
|
R7773:Rnf149
|
UTSW |
1 |
39,604,299 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8090:Rnf149
|
UTSW |
1 |
39,616,304 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGGTGATGAAGGCGATGGC -3'
(R):5'- TGGAACAGGGTCTCGATGTGTAGC -3'
Sequencing Primer
(F):5'- GCCACAAACACCACAGACTG -3'
(R):5'- ACCATGTACCTGGAAGTGTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation