Incidental Mutation 'R8704:Mib2'
ID |
669186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
068558-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8704 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155743620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 275
(M275T)
|
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: M275T
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: M275T
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: ENSMUST00000141108
AA Change: M100T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000122269 Gene: ENSMUSG00000029060 AA Change: M100T
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 |
|
Meta Mutation Damage Score |
0.1001 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
Validation Efficiency |
98% (39/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,773,489 (GRCm39) |
Q628R |
possibly damaging |
Het |
Agbl1 |
G |
T |
7: 76,239,302 (GRCm39) |
|
probably benign |
Het |
Brf2 |
A |
G |
8: 27,618,499 (GRCm39) |
V35A |
possibly damaging |
Het |
Chtf8 |
A |
C |
8: 107,612,672 (GRCm39) |
M89R |
probably benign |
Het |
Copa |
A |
G |
1: 171,931,693 (GRCm39) |
I315V |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,091,147 (GRCm39) |
E229K |
|
Het |
Etf1 |
T |
C |
18: 35,039,139 (GRCm39) |
E376G |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,172,137 (GRCm39) |
I2859F |
probably damaging |
Het |
Foxp1 |
C |
G |
6: 98,993,507 (GRCm39) |
Q132H |
unknown |
Het |
Gal3st3 |
T |
C |
19: 5,352,663 (GRCm39) |
V30A |
probably benign |
Het |
Gars1 |
C |
T |
6: 55,040,215 (GRCm39) |
R381C |
probably damaging |
Het |
Gjd3 |
C |
T |
11: 98,873,445 (GRCm39) |
R133H |
probably damaging |
Het |
Haspin |
T |
C |
11: 73,028,828 (GRCm39) |
N87S |
probably benign |
Het |
Hcrt |
A |
T |
11: 100,652,752 (GRCm39) |
|
probably benign |
Het |
Heatr6 |
T |
A |
11: 83,668,104 (GRCm39) |
M866K |
probably benign |
Het |
Igf1r |
T |
C |
7: 67,819,802 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
Lypd5 |
A |
G |
7: 24,050,982 (GRCm39) |
H31R |
possibly damaging |
Het |
Mmp19 |
G |
A |
10: 128,634,703 (GRCm39) |
V440I |
probably benign |
Het |
Nefm |
T |
C |
14: 68,358,510 (GRCm39) |
E508G |
unknown |
Het |
Nlrp4a |
A |
T |
7: 26,156,563 (GRCm39) |
I763L |
probably benign |
Het |
Or5p61 |
A |
T |
7: 107,758,711 (GRCm39) |
V123D |
possibly damaging |
Het |
Or9g4 |
T |
A |
2: 85,504,562 (GRCm39) |
H311L |
|
Het |
Pcdhb1 |
T |
A |
18: 37,399,402 (GRCm39) |
V451D |
possibly damaging |
Het |
Pfkfb2 |
T |
C |
1: 130,625,780 (GRCm39) |
N467D |
probably benign |
Het |
Ptprc |
G |
A |
1: 138,043,362 (GRCm39) |
T63I |
probably benign |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Rhobtb2 |
G |
A |
14: 70,031,373 (GRCm39) |
P584L |
probably damaging |
Het |
Rhoc |
G |
C |
3: 104,699,342 (GRCm39) |
A44P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,120,477 (GRCm39) |
E435G |
possibly damaging |
Het |
Stfa1 |
A |
T |
16: 36,105,536 (GRCm39) |
D89V |
probably damaging |
Het |
Tec |
T |
C |
5: 72,926,105 (GRCm39) |
K316E |
probably damaging |
Het |
Tsen15 |
A |
T |
1: 152,247,541 (GRCm39) |
Y150* |
probably null |
Het |
Ugt1a5 |
T |
C |
1: 88,094,087 (GRCm39) |
I105T |
probably benign |
Het |
Usp25 |
A |
G |
16: 76,856,178 (GRCm39) |
D257G |
probably benign |
Het |
Vmn1r195 |
A |
G |
13: 22,463,058 (GRCm39) |
Y176C |
possibly damaging |
Het |
Wdr31 |
G |
A |
4: 62,380,442 (GRCm39) |
A87V |
probably benign |
Het |
Wwp2 |
A |
T |
8: 108,212,228 (GRCm39) |
T177S |
probably benign |
Het |
Zfp28 |
T |
C |
7: 6,397,637 (GRCm39) |
C691R |
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 |
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 |
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'- TCGTGGTTGAACTGCACACG -3'
(R):5'- CCCTAGCATGTCCTGTTTGG -3'
Sequencing Primer
(F):5'- GGTGCCCATCTGTCCGATAAAC -3'
(R):5'- AGCATGTCCTGTTTGGGGTGG -3'
|
Posted On |
2021-04-30 |