Incidental Mutation 'IGL02472:Mib2'
| ID |
294783 |
| 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 # |
IGL02472
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155741203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 545
(I545F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030937]
[ENSMUST00000103176]
[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 damaging
Transcript: ENSMUST00000103176
AA Change: I545F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: I545F
| 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: ENSMUST00000130944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
A |
G |
15: 76,834,578 (GRCm39) |
N158S |
probably damaging |
Het |
| Ankrd17 |
A |
C |
5: 90,412,010 (GRCm39) |
L1285V |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,861,546 (GRCm39) |
T267I |
probably damaging |
Het |
| Becn1 |
C |
T |
11: 101,182,224 (GRCm39) |
G115D |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Chd6 |
A |
C |
2: 160,826,372 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,699,602 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,397,004 (GRCm39) |
I494V |
possibly damaging |
Het |
| Dock2 |
T |
A |
11: 34,199,801 (GRCm39) |
E1416D |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,821,701 (GRCm39) |
H339R |
probably benign |
Het |
| Espnl |
C |
T |
1: 91,268,256 (GRCm39) |
P294L |
probably benign |
Het |
| Ftmt |
T |
A |
18: 52,464,912 (GRCm39) |
I76N |
possibly damaging |
Het |
| Gorasp2 |
T |
G |
2: 70,506,803 (GRCm39) |
|
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,389,061 (GRCm39) |
M468K |
possibly damaging |
Het |
| Hfm1 |
A |
G |
5: 107,021,794 (GRCm39) |
|
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,338 (GRCm39) |
|
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,640,060 (GRCm39) |
F288I |
probably damaging |
Het |
| Kcnv1 |
T |
A |
15: 44,972,519 (GRCm39) |
K455* |
probably null |
Het |
| Kdm5a |
A |
G |
6: 120,383,691 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,747,958 (GRCm39) |
S3122F |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,490,817 (GRCm39) |
I440V |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,195,789 (GRCm39) |
P1055L |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,755 (GRCm39) |
I195N |
probably benign |
Het |
| Or5v1b |
C |
A |
17: 37,841,640 (GRCm39) |
F257L |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,609,270 (GRCm39) |
L65Q |
probably damaging |
Het |
| Polr1g |
T |
C |
7: 19,093,030 (GRCm39) |
D50G |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,627,623 (GRCm39) |
I396V |
possibly damaging |
Het |
| Ryr1 |
A |
T |
7: 28,740,269 (GRCm39) |
N3917K |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,582,658 (GRCm39) |
T80A |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,564,935 (GRCm39) |
E307K |
probably damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,223,953 (GRCm39) |
|
probably benign |
Het |
| Siglec15 |
T |
A |
18: 78,086,832 (GRCm39) |
K342N |
possibly damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,541,054 (GRCm39) |
F303S |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,400,505 (GRCm39) |
V705A |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,423,383 (GRCm39) |
|
probably benign |
Het |
| Tm6sf1 |
A |
T |
7: 81,525,572 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,899,119 (GRCm39) |
Y269C |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,944,971 (GRCm39) |
I402T |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,471,536 (GRCm39) |
|
probably null |
Het |
| Usp28 |
T |
A |
9: 48,949,069 (GRCm39) |
Y863N |
possibly damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,058,960 (GRCm39) |
I534V |
probably benign |
Het |
| Wdr89 |
A |
T |
12: 75,679,743 (GRCm39) |
D170E |
probably damaging |
Het |
| Zfp280d |
C |
A |
9: 72,208,993 (GRCm39) |
N74K |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
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 |
|
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 |
Incidental Mutation