Incidental Mutation 'R0279:Mib2'
ID |
24537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
038501-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0279 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 155745673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 46
(S46L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099465
(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: S46L
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: S46L
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: ENSMUST00000151843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155189
|
Meta Mutation Damage Score |
0.0711 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.6%
|
Validation Efficiency |
99% (82/83) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610528J11Rik |
A |
T |
4: 118,386,490 (GRCm39) |
M1L |
probably benign |
Het |
5730596B20Rik |
T |
A |
6: 52,156,182 (GRCm39) |
|
probably benign |
Het |
Acrbp |
T |
C |
6: 125,030,917 (GRCm39) |
|
probably null |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Acss3 |
A |
G |
10: 106,920,732 (GRCm39) |
I126T |
possibly damaging |
Het |
Aff3 |
T |
C |
1: 38,574,650 (GRCm39) |
E110G |
probably damaging |
Het |
Aldh1a3 |
T |
C |
7: 66,059,000 (GRCm39) |
I113V |
probably benign |
Het |
Aplp2 |
T |
C |
9: 31,069,086 (GRCm39) |
E525G |
probably damaging |
Het |
Atp2b4 |
A |
G |
1: 133,657,440 (GRCm39) |
|
probably benign |
Het |
Atp8a1 |
C |
T |
5: 67,970,435 (GRCm39) |
|
probably null |
Het |
Bhmt |
A |
G |
13: 93,761,972 (GRCm39) |
C104R |
probably damaging |
Het |
Cct5 |
T |
G |
15: 31,591,177 (GRCm39) |
E508A |
probably damaging |
Het |
Celsr1 |
T |
A |
15: 85,787,065 (GRCm39) |
E2761D |
probably benign |
Het |
Clstn1 |
T |
C |
4: 149,728,131 (GRCm39) |
S600P |
probably damaging |
Het |
Cnppd1 |
A |
G |
1: 75,113,573 (GRCm39) |
S232P |
probably damaging |
Het |
Crybb3 |
T |
C |
5: 113,227,619 (GRCm39) |
|
probably null |
Het |
Csmd1 |
A |
G |
8: 16,273,249 (GRCm39) |
I861T |
probably damaging |
Het |
Cyp2d10 |
A |
C |
15: 82,289,540 (GRCm39) |
S191A |
possibly damaging |
Het |
Ddx10 |
T |
C |
9: 53,146,604 (GRCm39) |
D206G |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 31,024,332 (GRCm39) |
H916N |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,802,615 (GRCm39) |
|
probably null |
Het |
Epb42 |
G |
A |
2: 120,859,525 (GRCm39) |
|
probably benign |
Het |
Etnppl |
A |
G |
3: 130,423,062 (GRCm39) |
R248G |
probably damaging |
Het |
Eya3 |
T |
C |
4: 132,446,558 (GRCm39) |
F369L |
probably damaging |
Het |
Fam170b |
T |
C |
14: 32,556,025 (GRCm39) |
|
probably benign |
Het |
Fli1 |
A |
T |
9: 32,372,723 (GRCm39) |
V105D |
probably damaging |
Het |
Fmo1 |
T |
C |
1: 162,657,841 (GRCm39) |
I433M |
possibly damaging |
Het |
Fndc3b |
C |
A |
3: 27,511,155 (GRCm39) |
C785F |
probably benign |
Het |
Foxe3 |
T |
C |
4: 114,782,765 (GRCm39) |
D149G |
probably damaging |
Het |
Gk5 |
T |
C |
9: 96,056,857 (GRCm39) |
|
probably benign |
Het |
Gm14226 |
A |
G |
2: 154,867,372 (GRCm39) |
D443G |
possibly damaging |
Het |
Gm9796 |
C |
T |
11: 95,588,821 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
A |
T |
9: 118,398,061 (GRCm39) |
R52S |
probably benign |
Het |
Hey2 |
C |
A |
10: 30,710,006 (GRCm39) |
C249F |
probably damaging |
Het |
Ipo9 |
A |
T |
1: 135,348,101 (GRCm39) |
|
probably benign |
Het |
Ireb2 |
C |
A |
9: 54,793,877 (GRCm39) |
T269K |
probably benign |
Het |
Kansl3 |
A |
G |
1: 36,391,050 (GRCm39) |
V274A |
probably damaging |
Het |
Kcnk2 |
C |
T |
1: 188,942,169 (GRCm39) |
A352T |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,006,442 (GRCm39) |
E903G |
probably benign |
Het |
Lepr |
A |
G |
4: 101,607,541 (GRCm39) |
K253R |
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,793,536 (GRCm39) |
|
probably benign |
Het |
Lrrc39 |
A |
T |
3: 116,371,952 (GRCm39) |
T240S |
probably benign |
Het |
Lrrc43 |
A |
G |
5: 123,635,085 (GRCm39) |
|
probably null |
Het |
Maf |
T |
C |
8: 116,432,495 (GRCm39) |
M370V |
possibly damaging |
Het |
Mms22l |
C |
T |
4: 24,497,867 (GRCm39) |
T63I |
probably damaging |
Het |
Morc2a |
T |
A |
11: 3,633,989 (GRCm39) |
S700R |
probably benign |
Het |
Mpz |
A |
G |
1: 170,987,498 (GRCm39) |
|
probably benign |
Het |
Ncam2 |
T |
C |
16: 81,420,225 (GRCm39) |
|
probably benign |
Het |
Niban1 |
T |
C |
1: 151,584,957 (GRCm39) |
|
probably null |
Het |
Nudt14 |
C |
T |
12: 112,902,037 (GRCm39) |
A123T |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,901,543 (GRCm39) |
|
probably benign |
Het |
Or10h1 |
C |
T |
17: 33,418,298 (GRCm39) |
T92I |
probably benign |
Het |
Or2a7 |
G |
A |
6: 43,151,692 (GRCm39) |
M257I |
probably benign |
Het |
Or9g20 |
A |
T |
2: 85,629,879 (GRCm39) |
I245N |
possibly damaging |
Het |
Otoa |
T |
C |
7: 120,710,302 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
G |
A |
12: 32,254,790 (GRCm39) |
T399I |
probably damaging |
Het |
Pkn3 |
C |
T |
2: 29,973,309 (GRCm39) |
A377V |
probably benign |
Het |
Ppan |
A |
G |
9: 20,802,825 (GRCm39) |
N327S |
probably benign |
Het |
Prkca |
T |
C |
11: 107,944,937 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
A |
T |
1: 162,543,033 (GRCm39) |
V320E |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,444,278 (GRCm39) |
V1442A |
probably damaging |
Het |
Rapgef1 |
C |
T |
2: 29,616,239 (GRCm39) |
R834C |
probably damaging |
Het |
Rbms1 |
G |
T |
2: 60,672,754 (GRCm39) |
N44K |
probably damaging |
Het |
Rfwd3 |
A |
C |
8: 112,009,365 (GRCm39) |
F404V |
probably benign |
Het |
Rimbp3 |
G |
T |
16: 17,027,317 (GRCm39) |
R247L |
probably benign |
Het |
Serpinb1b |
T |
C |
13: 33,277,696 (GRCm39) |
S310P |
possibly damaging |
Het |
Smtn |
C |
A |
11: 3,480,235 (GRCm39) |
V329L |
probably damaging |
Het |
Snapc2 |
T |
C |
8: 4,304,979 (GRCm39) |
|
probably benign |
Het |
Spam1 |
A |
T |
6: 24,800,418 (GRCm39) |
M386L |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,142,387 (GRCm39) |
E6208G |
probably damaging |
Het |
Teddm1a |
T |
C |
1: 153,768,369 (GRCm39) |
Y278H |
probably damaging |
Het |
Tnfaip6 |
A |
T |
2: 51,945,928 (GRCm39) |
N258I |
possibly damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,472 (GRCm39) |
R188Q |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,579,441 (GRCm39) |
H491Q |
probably benign |
Het |
Urgcp |
C |
T |
11: 5,666,989 (GRCm39) |
E450K |
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,996,637 (GRCm39) |
N294D |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,015,958 (GRCm39) |
C2606S |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,021,377 (GRCm39) |
H642Q |
unknown |
Het |
Zbtb46 |
A |
G |
2: 181,053,567 (GRCm39) |
S382P |
possibly damaging |
Het |
Zfp217 |
A |
G |
2: 169,961,700 (GRCm39) |
I209T |
probably benign |
Het |
Zranb3 |
T |
A |
1: 127,891,510 (GRCm39) |
N822I |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGCAGTCACAGATGATATTGGG -3'
(R):5'- GGCCACATGGCATTCTGACATAGAC -3'
Sequencing Primer
(F):5'- CACAGATGATATTGGGGTGGC -3'
(R):5'- CATGGCATTCTGACATAGACTAAGG -3'
|
Posted On |
2013-04-16 |