Incidental Mutation 'R0115:Mib2'
| ID |
20709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mib2
|
| Ensembl Gene |
ENSMUSG00000029060 |
| Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
| Synonyms |
Zzank1, 2210008I11Rik |
| MMRRC Submission |
038401-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0115 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 155740519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122269
(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 benign
Transcript: ENSMUST00000103176
|
| SMART Domains |
Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
| 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: ENSMUST00000130944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 86.0%
|
| Validation Efficiency |
98% (98/100) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
A |
G |
9: 114,108,452 (GRCm39) |
|
noncoding transcript |
Het |
| Alas1 |
A |
T |
9: 106,115,451 (GRCm39) |
|
probably null |
Het |
| Arf5 |
A |
G |
6: 28,426,075 (GRCm39) |
Y154C |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,750,272 (GRCm39) |
I344N |
probably damaging |
Het |
| Arhgap30 |
A |
C |
1: 171,235,516 (GRCm39) |
E630A |
possibly damaging |
Het |
| B4galt5 |
A |
G |
2: 167,151,154 (GRCm39) |
L118P |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,177,962 (GRCm39) |
I1969T |
probably benign |
Het |
| Bysl |
C |
T |
17: 47,921,867 (GRCm39) |
R77Q |
probably benign |
Het |
| Cap1 |
A |
T |
4: 122,756,868 (GRCm39) |
H272Q |
possibly damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,527,754 (GRCm39) |
I187M |
possibly damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,727,214 (GRCm39) |
|
probably benign |
Het |
| Cdhr18 |
A |
G |
14: 13,899,571 (GRCm38) |
V117A |
probably damaging |
Het |
| Cdk13 |
C |
A |
13: 17,894,079 (GRCm39) |
A1123S |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,811 (GRCm39) |
M473K |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,474,663 (GRCm39) |
S123P |
probably benign |
Het |
| Cwc22 |
G |
A |
2: 77,738,455 (GRCm39) |
A497V |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,575,370 (GRCm39) |
S296P |
probably damaging |
Het |
| Cyp2c50 |
T |
A |
19: 40,080,837 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
C |
A |
16: 31,624,508 (GRCm39) |
Y399* |
probably null |
Het |
| Drosha |
A |
T |
15: 12,846,216 (GRCm39) |
E92D |
probably benign |
Het |
| Fanca |
C |
T |
8: 123,995,278 (GRCm39) |
G1408D |
probably benign |
Het |
| Frem1 |
T |
A |
4: 82,854,406 (GRCm39) |
D1621V |
possibly damaging |
Het |
| Frem2 |
G |
A |
3: 53,563,629 (GRCm39) |
R293C |
probably damaging |
Het |
| Fut8 |
T |
A |
12: 77,495,334 (GRCm39) |
V308D |
probably damaging |
Het |
| Glipr1 |
A |
G |
10: 111,829,446 (GRCm39) |
I105T |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,800 (GRCm39) |
S385T |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,802,989 (GRCm39) |
V1200D |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,221 (GRCm39) |
D387N |
probably damaging |
Het |
| Gsdmc |
A |
G |
15: 63,675,486 (GRCm39) |
Y110H |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,941,698 (GRCm39) |
H586L |
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,127,458 (GRCm39) |
L5P |
unknown |
Het |
| Hectd4 |
A |
G |
5: 121,433,569 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,684,398 (GRCm39) |
I391F |
possibly damaging |
Het |
| Hsf4 |
A |
T |
8: 105,999,336 (GRCm39) |
|
probably null |
Het |
| I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
| Ino80 |
A |
T |
2: 119,261,497 (GRCm39) |
H722Q |
probably damaging |
Het |
| Kcnma1 |
C |
A |
14: 23,364,243 (GRCm39) |
R980L |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,974,500 (GRCm39) |
|
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,272,724 (GRCm39) |
H1202R |
probably benign |
Het |
| Lig3 |
A |
G |
11: 82,684,761 (GRCm39) |
D559G |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,852,537 (GRCm39) |
V2179A |
probably benign |
Het |
| Mab21l4 |
A |
T |
1: 93,087,447 (GRCm39) |
S135R |
possibly damaging |
Het |
| Mansc4 |
A |
G |
6: 146,976,725 (GRCm39) |
I297T |
possibly damaging |
Het |
| Marchf6 |
A |
T |
15: 31,475,958 (GRCm39) |
F633I |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,392,874 (GRCm39) |
V424L |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mmut |
C |
T |
17: 41,267,118 (GRCm39) |
T564M |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,197,090 (GRCm39) |
|
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,159 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
G |
A |
11: 79,359,702 (GRCm39) |
|
probably null |
Het |
| Notch3 |
T |
A |
17: 32,352,436 (GRCm39) |
T1866S |
possibly damaging |
Het |
| Or1e30 |
A |
G |
11: 73,678,141 (GRCm39) |
I126V |
possibly damaging |
Het |
| Or1o11 |
C |
T |
17: 37,756,670 (GRCm39) |
A86V |
probably benign |
Het |
| Or4c102 |
A |
T |
2: 88,422,999 (GRCm39) |
I284F |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,584,930 (GRCm39) |
M112K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,420,714 (GRCm39) |
I2464N |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,397,658 (GRCm39) |
S817P |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,142,514 (GRCm39) |
|
probably null |
Het |
| Prl8a6 |
T |
C |
13: 27,617,084 (GRCm39) |
D201G |
probably benign |
Het |
| Psmd1 |
C |
T |
1: 86,010,993 (GRCm39) |
T356I |
possibly damaging |
Het |
| Ptk6 |
G |
A |
2: 180,844,320 (GRCm39) |
|
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 117,175,466 (GRCm39) |
|
probably benign |
Het |
| Rbm42 |
G |
A |
7: 30,347,200 (GRCm39) |
T106I |
probably damaging |
Het |
| Rims4 |
A |
T |
2: 163,706,040 (GRCm39) |
V198E |
probably damaging |
Het |
| Ripk1 |
T |
C |
13: 34,193,733 (GRCm39) |
S32P |
probably damaging |
Het |
| Rorc |
T |
C |
3: 94,284,916 (GRCm39) |
|
probably benign |
Het |
| Rpl22l1 |
T |
C |
3: 28,860,685 (GRCm39) |
F15L |
probably damaging |
Het |
| Slc6a20a |
C |
A |
9: 123,507,823 (GRCm39) |
A17S |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,624,891 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,577,852 (GRCm39) |
|
probably benign |
Het |
| Ssc5d |
G |
A |
7: 4,930,880 (GRCm39) |
|
probably benign |
Het |
| Taf11 |
A |
G |
17: 28,126,635 (GRCm39) |
L4P |
probably benign |
Het |
| Tm2d3 |
A |
G |
7: 65,345,082 (GRCm39) |
|
probably benign |
Het |
| Tmub2 |
T |
C |
11: 102,179,201 (GRCm39) |
|
probably null |
Het |
| Trim34a |
T |
A |
7: 103,897,109 (GRCm39) |
C58S |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,678,566 (GRCm39) |
I840V |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,807,316 (GRCm39) |
V1020A |
probably damaging |
Het |
| Vmn1r214 |
T |
A |
13: 23,219,464 (GRCm39) |
Y319* |
probably null |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,115 (GRCm39) |
N215S |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,564 (GRCm39) |
M261V |
probably benign |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,577 (GRCm39) |
F309S |
probably damaging |
Het |
| Wdr95 |
A |
T |
5: 149,487,855 (GRCm39) |
D163V |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,340,253 (GRCm39) |
F831L |
possibly damaging |
Het |
| Ythdc2 |
C |
T |
18: 44,974,490 (GRCm39) |
|
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 |
|
|
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 |
|
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'- TTGGGCTACCCCAGAAAGCTGAAC -3'
(R):5'- GCTGTGATGTGAATGTGCGGAACC -3'
Sequencing Primer
(F):5'- GTGCAGAAACTCTGAGATCCTTC -3'
(R):5'- TGTGCGGAACCGGAAGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation