Incidental Mutation 'R1033:Mib2'
| ID |
95229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mib2
|
| Ensembl Gene |
ENSMUSG00000029060 |
| Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
| Synonyms |
Zzank1, 2210008I11Rik |
| MMRRC Submission |
039132-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155743917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 42
(G42S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103176]
[ENSMUST00000141108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103176
AA Change: G217S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: G217S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIB_HERC2
|
12 |
78 |
3.4e-26 |
PFAM |
|
ZnF_ZZ
|
85 |
130 |
6.44e-9 |
SMART |
|
Pfam:MIB_HERC2
|
160 |
225 |
4.2e-26 |
PFAM |
|
Blast:ANK
|
285 |
320 |
2e-13 |
BLAST |
|
ANK
|
428 |
457 |
8.52e-4 |
SMART |
|
ANK
|
461 |
490 |
6.71e-2 |
SMART |
|
ANK
|
494 |
523 |
9.93e-5 |
SMART |
|
ANK
|
527 |
559 |
1.1e2 |
SMART |
|
ANK
|
563 |
593 |
9.21e0 |
SMART |
|
ANK
|
597 |
627 |
3.57e-6 |
SMART |
|
ANK
|
631 |
660 |
3.31e-1 |
SMART |
|
ANK
|
664 |
709 |
1.73e3 |
SMART |
|
Blast:ANK
|
733 |
762 |
9e-10 |
BLAST |
|
low complexity region
|
763 |
772 |
N/A |
INTRINSIC |
|
RING
|
798 |
832 |
2.55e-1 |
SMART |
|
RING
|
877 |
909 |
1.81e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141108
AA Change: G42S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: G42S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIB_HERC2
|
1 |
52 |
7.1e-17 |
PFAM |
|
internal_repeat_1
|
82 |
150 |
7.77e-12 |
PROSPERO |
|
internal_repeat_1
|
153 |
220 |
7.77e-12 |
PROSPERO |
|
ANK
|
289 |
318 |
8.52e-4 |
SMART |
|
ANK
|
322 |
351 |
6.71e-2 |
SMART |
|
Pfam:Ank
|
356 |
375 |
2.9e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155189
|
| Meta Mutation Damage Score |
0.6007 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display exencephaly with a variable penetrance that depends on the genetic background. Mice homozygous for a reporter/null allele are viable, fertile and show normal growth, body weight and brain morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(16) : Targeted(5) Gene trapped(11)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,116,005 (GRCm39) |
D1036A |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,650,270 (GRCm39) |
S497P |
probably benign |
Het |
| Arhgap10 |
T |
A |
8: 77,983,976 (GRCm39) |
I700L |
possibly damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,555 (GRCm39) |
Y377C |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,849 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
A |
11: 119,229,196 (GRCm39) |
V702D |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,077 (GRCm39) |
R32* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,012,783 (GRCm39) |
D372V |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,675,311 (GRCm39) |
I2870N |
probably benign |
Het |
| Cped1 |
G |
T |
6: 22,016,950 (GRCm39) |
V100F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,869,679 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,242,922 (GRCm39) |
G45D |
probably damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,440 (GRCm39) |
N286I |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,062,236 (GRCm39) |
C97S |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,421,786 (GRCm39) |
H2062L |
probably benign |
Het |
| Frk |
T |
C |
10: 34,484,454 (GRCm39) |
C476R |
probably damaging |
Het |
| Gm10542 |
A |
G |
18: 44,337,668 (GRCm39) |
T49A |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,147,322 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gpr141 |
C |
T |
13: 19,935,880 (GRCm39) |
M298I |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,142,958 (GRCm39) |
E369G |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,901,638 (GRCm39) |
V368A |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,713 (GRCm39) |
S458T |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,131,989 (GRCm39) |
D198V |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,484,929 (GRCm39) |
V72A |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,029,798 (GRCm39) |
M901V |
unknown |
Het |
| Mgam |
A |
T |
6: 40,657,558 (GRCm39) |
Y971F |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,857,510 (GRCm39) |
D1078V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,158,934 (GRCm39) |
R870H |
probably benign |
Het |
| Nek8 |
A |
T |
11: 78,062,111 (GRCm39) |
L71Q |
probably null |
Het |
| Nox4 |
T |
A |
7: 87,023,621 (GRCm39) |
D502E |
probably damaging |
Het |
| Nsmaf |
G |
A |
4: 6,438,054 (GRCm39) |
P73S |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,204,377 (GRCm39) |
A1421V |
probably benign |
Het |
| Nxpe4 |
T |
C |
9: 48,304,533 (GRCm39) |
F207L |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,179,492 (GRCm39) |
T7P |
probably damaging |
Het |
| Or3a1 |
A |
C |
11: 74,225,462 (GRCm39) |
N198K |
possibly damaging |
Het |
| Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,194 (GRCm39) |
I33T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,160,716 (GRCm39) |
Y326H |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,585,815 (GRCm39) |
L2451P |
probably damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,506,252 (GRCm39) |
S58F |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,875,762 (GRCm39) |
R892G |
probably benign |
Het |
| Rock1 |
A |
G |
18: 10,067,535 (GRCm39) |
S1333P |
probably benign |
Het |
| Rpl7 |
A |
G |
1: 16,172,728 (GRCm39) |
I197T |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,521,395 (GRCm39) |
Q81K |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,220 (GRCm39) |
H1979L |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,154,889 (GRCm39) |
V99M |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,313,165 (GRCm39) |
Q436* |
probably null |
Het |
| Spata31e2 |
G |
A |
1: 26,721,466 (GRCm39) |
P1238L |
probably benign |
Het |
| Speer4a2 |
T |
C |
5: 26,294,125 (GRCm39) |
K18E |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,303 (GRCm39) |
R1305H |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,427,186 (GRCm39) |
G32S |
probably damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,580,060 (GRCm39) |
D279N |
probably damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,248,014 (GRCm39) |
D419G |
possibly damaging |
Het |
|
| Other mutations in Mib2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Mib2
|
APN |
4 |
155,742,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01404:Mib2
|
APN |
4 |
155,739,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01819:Mib2
|
APN |
4 |
155,739,715 (GRCm39) |
splice site |
probably null |
|
|
IGL02147:Mib2
|
APN |
4 |
155,742,144 (GRCm39) |
missense |
probably benign |
|
|
IGL02260:Mib2
|
APN |
4 |
155,745,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Mib2
|
APN |
4 |
155,741,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Mib2
|
APN |
4 |
155,740,036 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03051:Mib2
|
APN |
4 |
155,741,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03077:Mib2
|
APN |
4 |
155,743,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0042:Mib2
|
UTSW |
4 |
155,743,897 (GRCm39) |
nonsense |
probably null |
|
|
R0042:Mib2
|
UTSW |
4 |
155,743,897 (GRCm39) |
nonsense |
probably null |
|
|
R0115:Mib2
|
UTSW |
4 |
155,740,519 (GRCm39) |
unclassified |
probably benign |
|
|
R0193:Mib2
|
UTSW |
4 |
155,740,130 (GRCm39) |
missense |
probably benign |
|
|
R0279:Mib2
|
UTSW |
4 |
155,745,673 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0373:Mib2
|
UTSW |
4 |
155,740,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Mib2
|
UTSW |
4 |
155,740,519 (GRCm39) |
unclassified |
probably benign |
|
|
R0563:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0714:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0740:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0942:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0987:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1023:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Mib2
|
UTSW |
4 |
155,743,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Mib2
|
UTSW |
4 |
155,741,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1712:Mib2
|
UTSW |
4 |
155,739,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Mib2
|
UTSW |
4 |
155,742,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Mib2
|
UTSW |
4 |
155,744,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2131:Mib2
|
UTSW |
4 |
155,739,695 (GRCm39) |
splice site |
probably null |
|
|
R2187:Mib2
|
UTSW |
4 |
155,739,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3751:Mib2
|
UTSW |
4 |
155,739,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:Mib2
|
UTSW |
4 |
155,739,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3753:Mib2
|
UTSW |
4 |
155,739,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4381:Mib2
|
UTSW |
4 |
155,742,069 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4584:Mib2
|
UTSW |
4 |
155,741,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Mib2
|
UTSW |
4 |
155,741,872 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4754:Mib2
|
UTSW |
4 |
155,739,822 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4782:Mib2
|
UTSW |
4 |
155,744,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4799:Mib2
|
UTSW |
4 |
155,744,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5036:Mib2
|
UTSW |
4 |
155,740,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Mib2
|
UTSW |
4 |
155,741,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Mib2
|
UTSW |
4 |
155,740,508 (GRCm39) |
unclassified |
probably benign |
|
|
R6695:Mib2
|
UTSW |
4 |
155,745,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Mib2
|
UTSW |
4 |
155,744,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7234:Mib2
|
UTSW |
4 |
155,742,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Mib2
|
UTSW |
4 |
155,739,267 (GRCm39) |
missense |
probably benign |
|
|
R8133:Mib2
|
UTSW |
4 |
155,741,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8704:Mib2
|
UTSW |
4 |
155,743,620 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8904:Mib2
|
UTSW |
4 |
155,744,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8987:Mib2
|
UTSW |
4 |
155,745,351 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8988:Mib2
|
UTSW |
4 |
155,740,729 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9336:Mib2
|
UTSW |
4 |
155,743,394 (GRCm39) |
missense |
probably benign |
|
|
R9537:Mib2
|
UTSW |
4 |
155,741,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:Mib2
|
UTSW |
4 |
155,745,325 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0012:Mib2
|
UTSW |
4 |
155,739,852 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Mib2
|
UTSW |
4 |
155,745,598 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Mib2
|
UTSW |
4 |
155,739,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAACAGGACATGCTAGGGTGAC -3'
(R):5'- GAGGGGCATCTTTCAAGGAGCTAAG -3'
Sequencing Primer
(F):5'- CATGCTAGGGTGACACGGG -3'
(R):5'- TTTCAAGGAGCTAAGGTGGTACG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation