Incidental Mutation 'R9537:Mib2'
ID |
719736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9537 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 155741952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 387
(L387H)
|
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: L387H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: L387H
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 damaging
Transcript: ENSMUST00000141108
AA Change: L248H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122269 Gene: ENSMUSG00000029060 AA Change: L248H
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
G |
5: 50,118,207 (GRCm39) |
Y1114H |
possibly damaging |
Het |
Atp5pf |
A |
G |
16: 84,625,358 (GRCm39) |
Y82H |
probably damaging |
Het |
Bcl2a1d |
T |
G |
9: 88,613,526 (GRCm39) |
I83L |
probably benign |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Bglap3 |
T |
C |
3: 88,276,139 (GRCm39) |
D71G |
probably benign |
Het |
Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
Chmp2b |
T |
C |
16: 65,347,932 (GRCm39) |
K15E |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,927,462 (GRCm39) |
W525R |
probably damaging |
Het |
Col7a1 |
A |
T |
9: 108,784,420 (GRCm39) |
K143* |
probably null |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Dnai1 |
A |
G |
4: 41,629,790 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,344,740 (GRCm39) |
G2028D |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,199,292 (GRCm39) |
R773Q |
probably damaging |
Het |
Ffar1 |
T |
C |
7: 30,560,025 (GRCm39) |
T291A |
probably benign |
Het |
Golga2 |
G |
T |
2: 32,178,313 (GRCm39) |
|
probably benign |
Het |
Hapln2 |
T |
A |
3: 87,931,780 (GRCm39) |
|
probably null |
Het |
Ing1 |
T |
C |
8: 11,611,889 (GRCm39) |
L203P |
probably benign |
Het |
Litafd |
G |
T |
16: 8,501,177 (GRCm39) |
C11F |
|
Het |
Mab21l4 |
T |
C |
1: 93,080,884 (GRCm39) |
K341E |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,062,586 (GRCm39) |
T171A |
possibly damaging |
Het |
Mier1 |
A |
G |
4: 103,019,758 (GRCm39) |
N494S |
probably benign |
Het |
Myof |
A |
G |
19: 37,896,054 (GRCm39) |
L1847P |
probably damaging |
Het |
Ndst3 |
A |
T |
3: 123,465,162 (GRCm39) |
V270D |
|
Het |
Nup160 |
T |
C |
2: 90,560,088 (GRCm39) |
L1271S |
possibly damaging |
Het |
Osgep |
A |
T |
14: 51,162,119 (GRCm39) |
|
probably null |
Het |
Ptgfr |
G |
T |
3: 151,541,445 (GRCm39) |
T21N |
possibly damaging |
Het |
Ptgs1 |
T |
C |
2: 36,120,739 (GRCm39) |
S23P |
unknown |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Smu1 |
A |
G |
4: 40,755,671 (GRCm39) |
S65P |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,601,885 (GRCm39) |
Y1459C |
unknown |
Het |
Spen |
A |
G |
4: 141,199,015 (GRCm39) |
V3204A |
probably benign |
Het |
Spen |
TTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTG |
4: 141,244,156 (GRCm39) |
|
probably benign |
Het |
Timm44 |
G |
A |
8: 4,310,576 (GRCm39) |
T392I |
possibly damaging |
Het |
Tnc |
A |
T |
4: 63,884,821 (GRCm39) |
I1818N |
probably damaging |
Het |
Trpm1 |
G |
T |
7: 63,803,616 (GRCm39) |
|
probably benign |
Het |
Ttc14 |
A |
G |
3: 33,857,347 (GRCm39) |
Y231C |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,525,245 (GRCm39) |
R23G |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,935,117 (GRCm39) |
Y10C |
probably benign |
Het |
Vmn2r107 |
C |
A |
17: 20,595,149 (GRCm39) |
S567R |
probably benign |
Het |
Zfp112 |
T |
C |
7: 23,826,512 (GRCm39) |
Y831H |
probably damaging |
Het |
Zfy2 |
T |
A |
Y: 2,108,596 (GRCm39) |
T355S |
|
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 |
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 |
|
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'- AGCCAACACATGAACTCTGG -3'
(R):5'- TGGAGATGGAAACTTGCGTG -3'
Sequencing Primer
(F):5'- ACATGAACTCTGGGCACTCTC -3'
(R):5'- TCAGCGGTGGACCTTCAG -3'
|
Posted On |
2022-07-18 |