Incidental Mutation 'R2875:Mgrn1'
| ID |
260529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgrn1
|
| Ensembl Gene |
ENSMUSG00000022517 |
| Gene Name |
mahogunin, ring finger 1 |
| Synonyms |
nc, 2610042J20Rik |
| MMRRC Submission |
040463-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2875 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4704113-4756160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4725280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 47
(T47I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023159]
[ENSMUST00000070658]
[ENSMUST00000229038]
[ENSMUST00000230990]
|
| AlphaFold |
Q9D074 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023159
AA Change: T46I
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023159
Gene: ENSMUSG00000022517
AA Change: T46I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
268 |
278 |
N/A |
INTRINSIC |
|
RING
|
279 |
317 |
4.58e-4 |
SMART |
|
low complexity region
|
349 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070658
AA Change: T46I
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517
AA Change: T46I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
277 |
N/A |
INTRINSIC |
|
RING
|
278 |
316 |
4.58e-4 |
SMART |
|
low complexity region
|
348 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229038
AA Change: T47I
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230990
AA Change: T46I
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (1/1) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygotes for mutant alleles exhibit darkening of agouti hair and suppression of the obesity associated with certain agouti mutations. Homozygotes for an induced null mutation also have curly whiskers and develop a progressive spongiform neuropathology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,080,177 (GRCm39) |
K16* |
probably null |
Het |
| Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,969,904 (GRCm39) |
D585E |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,414,625 (GRCm39) |
I9V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,598,907 (GRCm39) |
N995S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,059,287 (GRCm39) |
G3C |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,609,712 (GRCm39) |
S243P |
probably damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,860,623 (GRCm39) |
S400P |
probably damaging |
Het |
| Eno1b |
A |
G |
18: 48,180,851 (GRCm39) |
K343R |
possibly damaging |
Het |
| Grk6 |
A |
G |
13: 55,600,117 (GRCm39) |
H271R |
probably damaging |
Het |
| H2-Ab1 |
A |
C |
17: 34,482,286 (GRCm39) |
M1L |
probably benign |
Het |
| Irf8 |
C |
A |
8: 121,481,202 (GRCm39) |
P262Q |
probably damaging |
Het |
| Kcnc3 |
G |
T |
7: 44,240,961 (GRCm39) |
G218* |
probably null |
Het |
| Krt9 |
C |
A |
11: 100,080,031 (GRCm39) |
G454* |
probably null |
Het |
| Ndst1 |
A |
T |
18: 60,823,119 (GRCm39) |
F816I |
probably damaging |
Het |
| Or11g26 |
T |
A |
14: 50,753,269 (GRCm39) |
W203R |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,165 (GRCm39) |
D269E |
probably benign |
Het |
| Phf12 |
C |
A |
11: 77,900,573 (GRCm39) |
T223N |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
| Rad54l |
C |
T |
4: 115,959,050 (GRCm39) |
R382Q |
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
| Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
| Smarca4 |
A |
T |
9: 21,553,876 (GRCm39) |
K387N |
possibly damaging |
Het |
| St3gal5 |
A |
G |
6: 72,124,114 (GRCm39) |
M214V |
possibly damaging |
Het |
| Stk25 |
T |
C |
1: 93,556,973 (GRCm39) |
D15G |
possibly damaging |
Het |
| Timm21 |
T |
C |
18: 84,969,217 (GRCm39) |
D69G |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,589,438 (GRCm39) |
N21272I |
probably damaging |
Het |
| Uchl3 |
A |
G |
14: 101,905,996 (GRCm39) |
H153R |
probably benign |
Het |
| Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,808,304 (GRCm39) |
S251P |
probably damaging |
Het |
| Zeb1 |
GGA |
GGAAGA |
18: 5,772,859 (GRCm39) |
|
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
probably damaging |
Het |
|
| Other mutations in Mgrn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Mgrn1
|
APN |
16 |
4,734,019 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02175:Mgrn1
|
APN |
16 |
4,738,232 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02382:Mgrn1
|
APN |
16 |
4,740,482 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1204:Mgrn1
|
UTSW |
16 |
4,725,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1515:Mgrn1
|
UTSW |
16 |
4,733,644 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1625:Mgrn1
|
UTSW |
16 |
4,728,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Mgrn1
|
UTSW |
16 |
4,745,726 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4955:Mgrn1
|
UTSW |
16 |
4,752,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6085:Mgrn1
|
UTSW |
16 |
4,738,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6189:Mgrn1
|
UTSW |
16 |
4,728,674 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7095:Mgrn1
|
UTSW |
16 |
4,745,528 (GRCm39) |
splice site |
probably null |
|
|
R7293:Mgrn1
|
UTSW |
16 |
4,750,084 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7610:Mgrn1
|
UTSW |
16 |
4,752,097 (GRCm39) |
makesense |
probably null |
|
|
R8187:Mgrn1
|
UTSW |
16 |
4,738,229 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8376:Mgrn1
|
UTSW |
16 |
4,733,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9710:Mgrn1
|
UTSW |
16 |
4,745,740 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Mgrn1
|
UTSW |
16 |
4,740,588 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGTGCAGCAAACTGG -3'
(R):5'- CAAGTCACATGGCCACGTTC -3'
Sequencing Primer
(F):5'- AGCAAACTGGCTGAGGAC -3'
(R):5'- ATGGCCACGTTCAGCTCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation