Incidental Mutation 'R3119:Mbip'
| ID |
263154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mbip
|
| Ensembl Gene |
ENSMUSG00000021028 |
| Gene Name |
MAP3K12 binding inhibitory protein 1 |
| Synonyms |
4933408E06Rik |
| MMRRC Submission |
040592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.926)
|
| Stock # |
R3119 (G1)
|
| Quality Score |
191 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
56375091-56392681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56392488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 33
(V33A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021416]
[ENSMUST00000218118]
|
| AlphaFold |
Q99LQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021416
AA Change: V33A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000021416
Gene: ENSMUSG00000021028
AA Change: V33A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
311 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218118
AA Change: V33A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218321
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
G |
1: 172,067,393 (GRCm39) |
F580L |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,504,656 (GRCm39) |
T532A |
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,214,990 (GRCm39) |
E37G |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,362,973 (GRCm39) |
F1679L |
possibly damaging |
Het |
| Dqx1 |
C |
A |
6: 83,043,216 (GRCm39) |
S651* |
probably null |
Het |
| Fhad1 |
CG |
C |
4: 141,645,618 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
C |
2: 9,882,396 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
A |
17: 68,732,669 (GRCm39) |
E50K |
probably benign |
Het |
| Man1a |
T |
A |
10: 53,906,890 (GRCm39) |
M295L |
probably damaging |
Het |
| Mrpl9 |
A |
T |
3: 94,355,097 (GRCm39) |
N223I |
probably damaging |
Het |
| Nrxn1 |
G |
A |
17: 90,904,947 (GRCm39) |
Q219* |
probably null |
Het |
| Or8g51 |
T |
A |
9: 38,608,955 (GRCm39) |
K236* |
probably null |
Het |
| Prss12 |
A |
T |
3: 123,298,976 (GRCm39) |
T583S |
possibly damaging |
Het |
| Rgs10 |
T |
C |
7: 128,004,955 (GRCm39) |
E65G |
probably damaging |
Het |
| Spata31e3 |
A |
T |
13: 50,401,005 (GRCm39) |
Y440* |
probably null |
Het |
| Syne2 |
T |
A |
12: 75,956,058 (GRCm39) |
M588K |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,797,005 (GRCm39) |
S364P |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,560,184 (GRCm39) |
M369T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,148,158 (GRCm39) |
V437I |
possibly damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,688 (GRCm39) |
H217R |
possibly damaging |
Het |
|
| Other mutations in Mbip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Mbip
|
APN |
12 |
56,377,027 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02627:Mbip
|
APN |
12 |
56,382,590 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03244:Mbip
|
APN |
12 |
56,384,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03387:Mbip
|
APN |
12 |
56,382,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0891:Mbip
|
UTSW |
12 |
56,387,242 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5254:Mbip
|
UTSW |
12 |
56,384,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5584:Mbip
|
UTSW |
12 |
56,382,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Mbip
|
UTSW |
12 |
56,382,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6642:Mbip
|
UTSW |
12 |
56,389,191 (GRCm39) |
intron |
probably benign |
|
|
R6808:Mbip
|
UTSW |
12 |
56,384,383 (GRCm39) |
splice site |
probably null |
|
|
R7231:Mbip
|
UTSW |
12 |
56,384,547 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7716:Mbip
|
UTSW |
12 |
56,392,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8472:Mbip
|
UTSW |
12 |
56,377,054 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1176:Mbip
|
UTSW |
12 |
56,387,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCCCAGTTTTCTCCAGAC -3'
(R):5'- TCATCTCAGTGCGACGAAG -3'
Sequencing Primer
(F):5'- TTGGCCATCAAGCGTGC -3'
(R):5'- CGGAGCTTAGTTCCTCAA -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation