Incidental Mutation 'R9640:Mib2'
ID |
725908 |
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 # |
R9640 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155745325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 134
(E134G)
|
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: E134G
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: E134G
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
|
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
T |
C |
16: 14,436,589 (GRCm39) |
V214A |
|
Het |
A830018L16Rik |
A |
G |
1: 12,021,200 (GRCm39) |
K403R |
probably damaging |
Het |
Aadacl4fm4 |
T |
A |
4: 144,412,809 (GRCm39) |
R44W |
possibly damaging |
Het |
Abhd17c |
A |
T |
7: 83,800,814 (GRCm39) |
L80Q |
probably damaging |
Het |
Adam30 |
T |
A |
3: 98,069,620 (GRCm39) |
D484E |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,408,010 (GRCm39) |
V2299E |
possibly damaging |
Het |
Atp6v1c1 |
C |
T |
15: 38,689,381 (GRCm39) |
R281W |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,201,553 (GRCm39) |
|
probably null |
Het |
Ccdc50 |
T |
C |
16: 27,225,461 (GRCm39) |
V58A |
probably damaging |
Het |
Cep162 |
A |
G |
9: 87,126,352 (GRCm39) |
S187P |
probably benign |
Het |
Clip4 |
C |
T |
17: 72,163,264 (GRCm39) |
T612M |
possibly damaging |
Het |
Corin |
C |
T |
5: 72,592,597 (GRCm39) |
V267I |
probably benign |
Het |
Cyp2c37 |
T |
A |
19: 40,000,180 (GRCm39) |
I434K |
probably benign |
Het |
Ddx43 |
T |
G |
9: 78,303,389 (GRCm39) |
D76E |
probably benign |
Het |
Dusp5 |
A |
G |
19: 53,526,051 (GRCm39) |
E231G |
probably damaging |
Het |
Fam114a1 |
G |
A |
5: 65,166,394 (GRCm39) |
V242I |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,831,896 (GRCm39) |
R1973S |
probably benign |
Het |
Gas2l3 |
A |
T |
10: 89,266,774 (GRCm39) |
D55E |
probably damaging |
Het |
Grwd1 |
T |
C |
7: 45,477,303 (GRCm39) |
I195V |
probably benign |
Het |
H2-M1 |
G |
T |
17: 36,983,031 (GRCm39) |
T20K |
probably benign |
Het |
H2-Q2 |
T |
G |
17: 35,562,206 (GRCm39) |
L151R |
probably damaging |
Het |
Hbegf |
T |
C |
18: 36,640,643 (GRCm39) |
Y138C |
probably damaging |
Het |
Hectd1 |
C |
A |
12: 51,795,197 (GRCm39) |
E2411* |
probably null |
Het |
Igkv11-125 |
T |
A |
6: 67,890,783 (GRCm39) |
S34T |
possibly damaging |
Het |
Jam2 |
A |
T |
16: 84,609,960 (GRCm39) |
T191S |
probably benign |
Het |
Kcnh8 |
T |
C |
17: 53,185,089 (GRCm39) |
I457T |
probably damaging |
Het |
Khk |
A |
G |
5: 31,079,303 (GRCm39) |
D15G |
probably damaging |
Het |
Lrba |
T |
A |
3: 86,526,875 (GRCm39) |
Y2244* |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,078,929 (GRCm39) |
N1841S |
|
Het |
Lrp4 |
A |
G |
2: 91,316,296 (GRCm39) |
T805A |
probably benign |
Het |
Lrp6 |
C |
T |
6: 134,441,414 (GRCm39) |
R1184Q |
probably damaging |
Het |
Map3k1 |
A |
T |
13: 111,900,699 (GRCm39) |
L442* |
probably null |
Het |
Mapk8ip3 |
T |
C |
17: 25,155,647 (GRCm39) |
N61S |
possibly damaging |
Het |
Matcap2 |
A |
T |
9: 22,351,228 (GRCm39) |
I457L |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,754,539 (GRCm39) |
V4685E |
probably damaging |
Het |
Mtss2 |
T |
C |
8: 111,464,575 (GRCm39) |
V403A |
probably benign |
Het |
Ndst4 |
C |
A |
3: 125,232,196 (GRCm39) |
T255K |
probably damaging |
Het |
Or1i2 |
G |
C |
10: 78,448,311 (GRCm39) |
L55V |
probably damaging |
Het |
Or2l13 |
A |
T |
16: 19,305,761 (GRCm39) |
M58L |
probably damaging |
Het |
Or5ae2 |
G |
A |
7: 84,506,114 (GRCm39) |
C181Y |
probably damaging |
Het |
Or8g20 |
A |
G |
9: 39,396,396 (GRCm39) |
L51P |
probably damaging |
Het |
Pak1 |
T |
A |
7: 97,515,355 (GRCm39) |
D126E |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,397,142 (GRCm39) |
T675A |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,121,116 (GRCm39) |
D185G |
probably damaging |
Het |
Rnase2a |
G |
A |
14: 51,493,117 (GRCm39) |
R83C |
probably damaging |
Het |
Sfmbt2 |
A |
G |
2: 10,583,994 (GRCm39) |
T784A |
probably damaging |
Het |
Slc6a21 |
A |
T |
7: 44,937,189 (GRCm39) |
T272S |
|
Het |
Sorcs2 |
G |
T |
5: 36,222,765 (GRCm39) |
S330* |
probably null |
Het |
Spdef |
G |
T |
17: 27,936,183 (GRCm39) |
H253Q |
|
Het |
Tas2r144 |
A |
G |
6: 42,192,428 (GRCm39) |
E56G |
probably benign |
Het |
Trim66 |
A |
G |
7: 109,074,825 (GRCm39) |
C479R |
probably damaging |
Het |
Ttc36 |
A |
T |
9: 44,714,034 (GRCm39) |
L28Q |
probably benign |
Het |
Ugt1a5 |
T |
C |
1: 88,094,098 (GRCm39) |
S109P |
possibly damaging |
Het |
Vamp5 |
G |
A |
6: 72,347,276 (GRCm39) |
|
probably benign |
Het |
Wwox |
A |
G |
8: 115,166,540 (GRCm39) |
D10G |
possibly damaging |
Het |
Zfp40 |
T |
C |
17: 23,394,493 (GRCm39) |
Y698C |
probably damaging |
Het |
Zfp62 |
A |
G |
11: 49,106,458 (GRCm39) |
D183G |
probably benign |
Het |
Zfp932 |
T |
C |
5: 110,157,064 (GRCm39) |
V254A |
probably benign |
Het |
Zfp943 |
T |
A |
17: 22,209,899 (GRCm39) |
L57H |
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 |
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 |
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'- ATGACAGAGGAAGTCCCATCC -3'
(R):5'- ATCCTGCACCTAGGTATCCG -3'
Sequencing Primer
(F):5'- GTAACAGTCTCAGGGCTCTAGATAAC -3'
(R):5'- GCCACCCCAATATCATCTGTG -3'
|
Posted On |
2022-09-12 |