Incidental Mutation 'R6403:Mb21d2'
| ID |
516234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mb21d2
|
| Ensembl Gene |
ENSMUSG00000051065 |
| Gene Name |
Mab-21 domain containing 2 |
| Synonyms |
1600021P15Rik |
| MMRRC Submission |
044382-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
28644928-28748425 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28647269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 235
(I235T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100023]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100023
AA Change: I235T
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097600
Gene: ENSMUSG00000051065
AA Change: I235T
| Domain | Start | End | E-Value | Type |
|---|
|
Mab-21
|
120 |
405 |
8.7e-75 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232571
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,594 (GRCm39) |
I623V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,538 (GRCm39) |
R317* |
probably null |
Het |
| Carmil1 |
G |
A |
13: 24,265,950 (GRCm39) |
R271C |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,562,901 (GRCm39) |
L323* |
probably null |
Het |
| Copb1 |
T |
A |
7: 113,837,686 (GRCm39) |
I286F |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,689,691 (GRCm39) |
V285D |
probably damaging |
Het |
| Dok5 |
G |
T |
2: 170,671,820 (GRCm39) |
A79S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,727,160 (GRCm39) |
N557S |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,464,644 (GRCm39) |
R178H |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,840,971 (GRCm39) |
S35P |
probably damaging |
Het |
| Il3ra |
G |
T |
14: 14,347,137 (GRCm38) |
A3S |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,304,624 (GRCm39) |
|
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,485 (GRCm39) |
S420R |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,975,045 (GRCm39) |
N293S |
probably benign |
Het |
| Ncbp3 |
A |
G |
11: 72,969,802 (GRCm39) |
T550A |
probably benign |
Het |
| Nckipsd |
G |
T |
9: 108,688,882 (GRCm39) |
R139L |
possibly damaging |
Het |
| Nxn |
A |
G |
11: 76,289,846 (GRCm39) |
V14A |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,538 (GRCm39) |
L22P |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,382,343 (GRCm39) |
Q118* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,399 (GRCm39) |
C668F |
possibly damaging |
Het |
| Tmem87a |
A |
T |
2: 120,211,252 (GRCm39) |
M231K |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,999,128 (GRCm39) |
V333A |
probably benign |
Het |
| Trit1 |
C |
A |
4: 122,933,372 (GRCm39) |
T103K |
possibly damaging |
Het |
| Tspan13 |
A |
G |
12: 36,065,704 (GRCm39) |
F203S |
probably damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,528,939 (GRCm39) |
D388N |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,683,015 (GRCm39) |
A55V |
probably benign |
Het |
|
| Other mutations in Mb21d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01958:Mb21d2
|
APN |
16 |
28,646,495 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02153:Mb21d2
|
APN |
16 |
28,748,240 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02678:Mb21d2
|
APN |
16 |
28,646,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0570:Mb21d2
|
UTSW |
16 |
28,748,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0571:Mb21d2
|
UTSW |
16 |
28,748,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0630:Mb21d2
|
UTSW |
16 |
28,748,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1728:Mb21d2
|
UTSW |
16 |
28,647,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Mb21d2
|
UTSW |
16 |
28,647,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1866:Mb21d2
|
UTSW |
16 |
28,647,267 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3801:Mb21d2
|
UTSW |
16 |
28,646,755 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7384:Mb21d2
|
UTSW |
16 |
28,647,664 (GRCm39) |
missense |
probably benign |
|
|
R7464:Mb21d2
|
UTSW |
16 |
28,748,298 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8030:Mb21d2
|
UTSW |
16 |
28,646,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Mb21d2
|
UTSW |
16 |
28,647,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTGCCTGAAATGCACTTC -3'
(R):5'- ACGGTGCCACCAACTACTTC -3'
Sequencing Primer
(F):5'- GACTGCCTGAAATGCACTTCTTCAG -3'
(R):5'- CTTCTCCCCCACCAAAGTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation