Incidental Mutation 'IGL02260:Mib2'
ID |
286697 |
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 # |
IGL02260
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 155745628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 61
(R61H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103176]
[ENSMUST00000141108]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103176
AA Change: R61H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: R61H
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 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
C |
T |
17: 57,754,891 (GRCm39) |
A663V |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,602,699 (GRCm39) |
|
probably benign |
Het |
B4galt6 |
T |
C |
18: 20,833,804 (GRCm39) |
I194V |
probably benign |
Het |
Caprin1 |
T |
C |
2: 103,609,714 (GRCm39) |
Y188C |
probably damaging |
Het |
Ccdc85a |
A |
G |
11: 28,526,672 (GRCm39) |
F284S |
possibly damaging |
Het |
Ccdc88b |
A |
T |
19: 6,832,717 (GRCm39) |
|
probably benign |
Het |
Cox18 |
C |
T |
5: 90,365,384 (GRCm39) |
V272I |
possibly damaging |
Het |
Dars1 |
A |
T |
1: 128,299,898 (GRCm39) |
M362K |
probably benign |
Het |
Ddi1 |
A |
T |
9: 6,265,760 (GRCm39) |
M203K |
probably benign |
Het |
Dlg4 |
G |
A |
11: 69,933,093 (GRCm39) |
G500R |
probably damaging |
Het |
Ebf3 |
G |
A |
7: 136,807,919 (GRCm39) |
P375S |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,084,537 (GRCm39) |
L842M |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gm5581 |
T |
C |
6: 131,144,909 (GRCm39) |
|
noncoding transcript |
Het |
Mapk10 |
A |
T |
5: 103,186,534 (GRCm39) |
D29E |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,303,697 (GRCm39) |
S724P |
probably benign |
Het |
Mtor |
T |
C |
4: 148,622,758 (GRCm39) |
I1946T |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,260,995 (GRCm39) |
L1873P |
probably damaging |
Het |
Myom1 |
C |
T |
17: 71,415,310 (GRCm39) |
Q1226* |
probably null |
Het |
Neb |
A |
G |
2: 52,095,668 (GRCm39) |
L4858P |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,114 (GRCm39) |
I128F |
probably damaging |
Het |
Or5m9b |
C |
A |
2: 85,905,816 (GRCm39) |
T244K |
possibly damaging |
Het |
Or5p76 |
T |
C |
7: 108,122,492 (GRCm39) |
I222V |
probably benign |
Het |
Pcdhb14 |
C |
T |
18: 37,583,086 (GRCm39) |
H731Y |
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,412,744 (GRCm39) |
N1087S |
probably benign |
Het |
Prdm2 |
C |
T |
4: 142,861,157 (GRCm39) |
G711D |
probably damaging |
Het |
Proser1 |
G |
A |
3: 53,386,365 (GRCm39) |
G749D |
probably damaging |
Het |
Ptch1 |
A |
T |
13: 63,713,166 (GRCm39) |
|
probably benign |
Het |
Pus10 |
A |
T |
11: 23,657,548 (GRCm39) |
K233* |
probably null |
Het |
Rasa2 |
A |
G |
9: 96,426,372 (GRCm39) |
Y825H |
probably benign |
Het |
Tbcd |
T |
C |
11: 121,494,104 (GRCm39) |
F969S |
probably damaging |
Het |
Tbp |
T |
A |
17: 15,724,878 (GRCm39) |
S133T |
probably damaging |
Het |
Tnks |
C |
T |
8: 35,310,137 (GRCm39) |
G1062D |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,764,372 (GRCm39) |
S625T |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,850,562 (GRCm39) |
S239P |
probably benign |
Het |
Ubiad1 |
T |
C |
4: 148,528,564 (GRCm39) |
D115G |
probably benign |
Het |
Uckl1 |
A |
G |
2: 181,211,381 (GRCm39) |
S483P |
probably damaging |
Het |
Vill |
A |
G |
9: 118,887,509 (GRCm39) |
D91G |
probably benign |
Het |
Wdr62 |
C |
A |
7: 29,970,207 (GRCm39) |
C200F |
probably damaging |
Het |
Zfp341 |
G |
A |
2: 154,483,969 (GRCm39) |
C586Y |
possibly damaging |
Het |
Zfp687 |
G |
A |
3: 94,918,575 (GRCm39) |
T399I |
possibly damaging |
Het |
Zp1 |
G |
T |
19: 10,894,078 (GRCm39) |
|
probably benign |
Het |
Zzz3 |
T |
A |
3: 152,157,720 (GRCm39) |
D263E |
probably benign |
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 |
|
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 |
2015-04-16 |