Incidental Mutation 'IGL01404:Mib2'
ID |
79754 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01404
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155739393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 862
(E862V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030937]
[ENSMUST00000067081]
[ENSMUST00000103176]
[ENSMUST00000105598]
[ENSMUST00000105600]
[ENSMUST00000141108]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030937
|
SMART Domains |
Protein: ENSMUSP00000030937 Gene: ENSMUSG00000029061
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
41 |
N/A |
INTRINSIC |
ZnMc
|
85 |
256 |
8.39e-48 |
SMART |
ShKT
|
255 |
291 |
4.06e-10 |
SMART |
IG
|
307 |
390 |
4.53e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000067081
|
SMART Domains |
Protein: ENSMUSP00000070527 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
S_TKc
|
427 |
712 |
5.05e-93 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103176
AA Change: E862V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: E862V
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 |
probably benign
Transcript: ENSMUST00000105598
|
SMART Domains |
Protein: ENSMUSP00000101223 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
coiled coil region
|
89 |
180 |
N/A |
INTRINSIC |
low complexity region
|
218 |
225 |
N/A |
INTRINSIC |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
303 |
N/A |
INTRINSIC |
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
S_TKc
|
393 |
678 |
5.05e-93 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105600
|
SMART Domains |
Protein: ENSMUSP00000101225 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
S_TKc
|
427 |
712 |
5.05e-93 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128204
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130944
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141108
|
SMART Domains |
Protein: ENSMUSP00000122269 Gene: ENSMUSG00000029060
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 |
|
Coding Region Coverage |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,211,152 (GRCm39) |
|
probably null |
Het |
4921524L21Rik |
T |
C |
18: 6,638,653 (GRCm39) |
S351P |
possibly damaging |
Het |
Ablim3 |
A |
G |
18: 62,004,754 (GRCm39) |
Y12H |
probably damaging |
Het |
Adam2 |
C |
T |
14: 66,314,659 (GRCm39) |
|
probably null |
Het |
Adgre4 |
A |
T |
17: 56,104,639 (GRCm39) |
N235I |
possibly damaging |
Het |
Aldh3b1 |
A |
C |
19: 3,971,205 (GRCm39) |
V153G |
probably benign |
Het |
B430306N03Rik |
A |
G |
17: 48,628,101 (GRCm39) |
Y177C |
probably damaging |
Het |
Cast |
A |
T |
13: 74,886,406 (GRCm39) |
Y249* |
probably null |
Het |
Cfap43 |
T |
C |
19: 47,784,105 (GRCm39) |
D476G |
probably benign |
Het |
Cpa4 |
T |
C |
6: 30,581,701 (GRCm39) |
I216T |
possibly damaging |
Het |
Cpeb3 |
T |
C |
19: 37,065,948 (GRCm39) |
D407G |
probably benign |
Het |
Ctnnal1 |
T |
C |
4: 56,829,590 (GRCm39) |
D413G |
probably damaging |
Het |
Cyb5a |
A |
G |
18: 84,895,985 (GRCm39) |
S84G |
probably benign |
Het |
Dpy19l4 |
C |
A |
4: 11,273,006 (GRCm39) |
|
probably null |
Het |
Erbin |
A |
T |
13: 103,975,972 (GRCm39) |
S641T |
probably damaging |
Het |
Espn |
T |
A |
4: 152,222,901 (GRCm39) |
T326S |
probably benign |
Het |
Extl1 |
T |
C |
4: 134,086,514 (GRCm39) |
M514V |
probably benign |
Het |
Fancc |
G |
A |
13: 63,509,452 (GRCm39) |
L134F |
probably damaging |
Het |
Fis1 |
C |
T |
5: 136,994,828 (GRCm39) |
A90V |
probably benign |
Het |
Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
Gjc3 |
A |
G |
5: 137,956,120 (GRCm39) |
F55S |
probably damaging |
Het |
Gm10762 |
C |
T |
2: 128,809,005 (GRCm39) |
|
probably benign |
Het |
Got1 |
A |
G |
19: 43,493,048 (GRCm39) |
I291T |
possibly damaging |
Het |
Gpr179 |
C |
A |
11: 97,229,012 (GRCm39) |
G1048* |
probably null |
Het |
Ino80 |
T |
A |
2: 119,287,199 (GRCm39) |
D56V |
possibly damaging |
Het |
Kcp |
C |
A |
6: 29,496,638 (GRCm39) |
C624F |
probably damaging |
Het |
Kctd1 |
T |
A |
18: 15,102,610 (GRCm39) |
Q857L |
probably damaging |
Het |
Lins1 |
G |
A |
7: 66,363,676 (GRCm39) |
V524I |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,430,901 (GRCm39) |
Y383N |
probably damaging |
Het |
Mgam |
A |
C |
6: 40,621,879 (GRCm39) |
K84Q |
probably benign |
Het |
Myh1 |
G |
T |
11: 67,112,977 (GRCm39) |
R1827L |
possibly damaging |
Het |
Myh10 |
T |
C |
11: 68,642,866 (GRCm39) |
|
probably null |
Het |
Myo1e |
A |
G |
9: 70,245,048 (GRCm39) |
Y382C |
probably benign |
Het |
Nktr |
G |
A |
9: 121,570,218 (GRCm39) |
|
probably null |
Het |
Nlrc4 |
A |
G |
17: 74,752,706 (GRCm39) |
I559T |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,390,364 (GRCm39) |
M224L |
probably benign |
Het |
Or4d5 |
A |
G |
9: 40,012,558 (GRCm39) |
I76T |
probably benign |
Het |
Or52n4 |
A |
T |
7: 104,293,687 (GRCm39) |
Y295* |
probably null |
Het |
Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
Pex7 |
G |
T |
10: 19,770,557 (GRCm39) |
|
probably benign |
Het |
Ptprb |
A |
T |
10: 116,175,341 (GRCm39) |
D1112V |
probably benign |
Het |
Rubcn |
G |
A |
16: 32,647,666 (GRCm39) |
T636M |
probably damaging |
Het |
Scn5a |
A |
C |
9: 119,315,536 (GRCm39) |
L1724R |
probably damaging |
Het |
Sec14l2 |
T |
C |
11: 4,066,710 (GRCm39) |
D34G |
possibly damaging |
Het |
Serpina3k |
A |
G |
12: 104,306,882 (GRCm39) |
D38G |
probably benign |
Het |
Sh3bgr |
A |
C |
16: 96,007,690 (GRCm39) |
K18N |
probably damaging |
Het |
Sh3bp5l |
A |
T |
11: 58,236,886 (GRCm39) |
H281L |
probably benign |
Het |
Slc28a2 |
T |
G |
2: 122,282,538 (GRCm39) |
I287M |
probably damaging |
Het |
Slc2a1 |
T |
A |
4: 118,989,435 (GRCm39) |
M45K |
possibly damaging |
Het |
Syt11 |
A |
G |
3: 88,669,523 (GRCm39) |
I123T |
probably benign |
Het |
Tfg |
C |
A |
16: 56,514,856 (GRCm39) |
|
probably benign |
Het |
Tmem177 |
T |
C |
1: 119,837,791 (GRCm39) |
D296G |
probably damaging |
Het |
Trabd2b |
A |
G |
4: 114,457,153 (GRCm39) |
I357V |
probably benign |
Het |
Trp63 |
C |
A |
16: 25,639,135 (GRCm39) |
|
probably benign |
Het |
Ugt1a8 |
T |
C |
1: 88,015,617 (GRCm39) |
L10P |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 20,032,696 (GRCm39) |
I823M |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,484,467 (GRCm39) |
N446S |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,820,486 (GRCm39) |
|
probably null |
Het |
Vwa3b |
C |
T |
1: 37,193,117 (GRCm39) |
T11I |
probably benign |
Het |
Vwf |
A |
C |
6: 125,654,933 (GRCm39) |
Q2543P |
probably damaging |
Het |
Yap1 |
G |
A |
9: 7,934,742 (GRCm39) |
|
probably benign |
Het |
Zfp282 |
A |
C |
6: 47,874,770 (GRCm39) |
D325A |
probably damaging |
Het |
Zfyve9 |
T |
G |
4: 108,539,348 (GRCm39) |
Y975S |
probably 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 |
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 |
R1033: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 |
|
|
Posted On |
2013-11-05 |