Incidental Mutation 'R0564:Mib2'
| ID |
46058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mib2
|
| Ensembl Gene |
ENSMUSG00000029060 |
| Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
| Synonyms |
Zzank1, 2210008I11Rik |
| MMRRC Submission |
038755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0564 (G1)
|
| Quality Score |
204 |
|
Status
|
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: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
A |
G |
10: 80,180,681 (GRCm39) |
V127A |
probably damaging |
Het |
| Alox12 |
T |
A |
11: 70,143,662 (GRCm39) |
D202V |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,779,655 (GRCm39) |
Y405H |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,609,593 (GRCm39) |
M18K |
probably damaging |
Het |
| Atad2 |
C |
A |
15: 57,989,229 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,932,238 (GRCm39) |
|
probably benign |
Het |
| Ccdc126 |
T |
C |
6: 49,311,076 (GRCm39) |
M28T |
possibly damaging |
Het |
| Cdc16 |
A |
T |
8: 13,831,618 (GRCm39) |
D617V |
probably damaging |
Het |
| Cep135 |
G |
A |
5: 76,763,557 (GRCm39) |
E516K |
probably damaging |
Het |
| Cep135 |
G |
T |
5: 76,786,796 (GRCm39) |
M1081I |
probably benign |
Het |
| Col6a3 |
A |
C |
1: 90,735,456 (GRCm39) |
V731G |
probably damaging |
Het |
| Cstdc6 |
A |
T |
16: 36,143,346 (GRCm39) |
Y34* |
probably null |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Dip2b |
C |
A |
15: 100,060,600 (GRCm39) |
Y258* |
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,973,807 (GRCm39) |
V1900A |
probably damaging |
Het |
| Dpysl2 |
A |
T |
14: 67,042,895 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,139,432 (GRCm39) |
L1401Q |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 140,000,506 (GRCm39) |
Y427N |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,308 (GRCm39) |
V154D |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,563,530 (GRCm39) |
F326L |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,813 (GRCm39) |
N303I |
possibly damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Iigp1 |
G |
A |
18: 60,523,523 (GRCm39) |
V214M |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,485,710 (GRCm39) |
K2E |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,601,574 (GRCm39) |
L410P |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,967,712 (GRCm39) |
F452S |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,156,831 (GRCm39) |
F335L |
possibly damaging |
Het |
| Mpp3 |
T |
G |
11: 101,896,173 (GRCm39) |
K450T |
possibly damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,489,714 (GRCm39) |
V79E |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,585 (GRCm39) |
I263V |
probably benign |
Het |
| Or52p2 |
T |
C |
7: 102,237,738 (GRCm39) |
I71V |
probably benign |
Het |
| Or6c76 |
T |
G |
10: 129,612,005 (GRCm39) |
V74G |
probably damaging |
Het |
| Pdk1 |
G |
A |
2: 71,710,383 (GRCm39) |
W113* |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,966,603 (GRCm39) |
|
probably benign |
Het |
| Phxr4 |
A |
T |
9: 13,342,993 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,897 (GRCm39) |
H606Q |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,829,670 (GRCm39) |
I187K |
possibly damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,230 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,286,099 (GRCm39) |
|
probably null |
Het |
| Sh2d3c |
G |
A |
2: 32,643,064 (GRCm39) |
C749Y |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,656 (GRCm39) |
D210G |
probably benign |
Het |
| Smap2 |
G |
A |
4: 120,834,174 (GRCm39) |
P155S |
probably benign |
Het |
| Snrk |
C |
T |
9: 121,995,610 (GRCm39) |
T463M |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,233,964 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
C |
T |
5: 127,861,842 (GRCm39) |
E760K |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,332,789 (GRCm39) |
|
probably null |
Het |
| Tmem235 |
A |
T |
11: 117,751,674 (GRCm39) |
I33F |
possibly damaging |
Het |
| Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
| Top1 |
G |
A |
2: 160,556,185 (GRCm39) |
R548Q |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,805,908 (GRCm39) |
N527D |
probably damaging |
Het |
| Upf3a |
A |
G |
8: 13,845,656 (GRCm39) |
K252E |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAACAGGACATGCTAGGGTGAC -3'
(R):5'- GAGGGGCATCTTTCAAGGAGCTAAG -3'
Sequencing Primer
(F):5'- CATGCTAGGGTGACACGGG -3'
(R):5'- TTTCAAGGAGCTAAGGTGGTACG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation