Incidental Mutation 'R6085:Mgrn1'
| ID |
482449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgrn1
|
| Ensembl Gene |
ENSMUSG00000022517 |
| Gene Name |
mahogunin, ring finger 1 |
| Synonyms |
nc, 2610042J20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4704113-4756160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4738240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 265
(T265A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023159]
[ENSMUST00000070658]
[ENSMUST00000229038]
[ENSMUST00000230990]
|
| AlphaFold |
Q9D074 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023159
AA Change: T264A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000023159
Gene: ENSMUSG00000022517
AA Change: T264A
| 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 |
probably benign
Transcript: ENSMUST00000070658
AA Change: T264A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000068314
Gene: ENSMUSG00000022517
AA Change: T264A
| 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 |
probably benign
Transcript: ENSMUST00000229038
AA Change: T265A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230990
AA Change: T264A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Boc |
G |
T |
16: 44,308,970 (GRCm39) |
D847E |
probably damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,134,255 (GRCm39) |
I1051T |
unknown |
Het |
| Ciita |
A |
G |
16: 10,330,029 (GRCm39) |
E771G |
probably benign |
Het |
| Cul2 |
T |
C |
18: 3,431,508 (GRCm39) |
F638L |
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,429,866 (GRCm39) |
Y293H |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Etv1 |
G |
A |
12: 38,904,194 (GRCm39) |
D285N |
probably damaging |
Het |
| Hs3st3a1 |
G |
A |
11: 64,327,004 (GRCm39) |
V38I |
possibly damaging |
Het |
| Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,615,156 (GRCm39) |
T1360I |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,177,842 (GRCm39) |
V1075A |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,950 (GRCm39) |
Y35C |
|
Het |
| Pld4 |
A |
G |
12: 112,733,320 (GRCm39) |
T299A |
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,572,106 (GRCm39) |
I38N |
probably damaging |
Het |
| Slc25a47 |
A |
G |
12: 108,820,254 (GRCm39) |
Y86C |
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,817,308 (GRCm39) |
I241M |
possibly damaging |
Het |
| Synrg |
A |
T |
11: 83,930,487 (GRCm39) |
E1276D |
possibly damaging |
Het |
| Taar7e |
T |
C |
10: 23,913,761 (GRCm39) |
F84L |
probably benign |
Het |
| Tssk1 |
G |
A |
16: 17,712,848 (GRCm39) |
C211Y |
possibly damaging |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Xpo7 |
A |
T |
14: 70,934,051 (GRCm39) |
S236T |
probably benign |
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 |
|
R2875:Mgrn1
|
UTSW |
16 |
4,725,280 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
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'- TCTAGCCACAGTTTCCCTGG -3'
(R):5'- TTCAAGTAGTCAGTCACAGACAC -3'
Sequencing Primer
(F):5'- ACAGTTTCCCTGGGACCC -3'
(R):5'- CAAAACTCTACTTGGCTTAACTGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation