Incidental Mutation 'R0625:Mib2'
ID |
57409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
038814-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0625 (G1)
|
Quality Score |
177 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 155743917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 42
(G42S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122269
(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: G217S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: G217S
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 damaging
Transcript: ENSMUST00000141108
AA Change: G42S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122269 Gene: ENSMUSG00000029060 AA Change: G42S
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 |
0.6007 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
T |
C |
9: 53,319,365 (GRCm39) |
S2P |
probably benign |
Het |
Abca16 |
A |
C |
7: 120,035,116 (GRCm39) |
T301P |
probably damaging |
Het |
Acer2 |
A |
G |
4: 86,805,399 (GRCm39) |
D121G |
possibly damaging |
Het |
Adgrd1 |
T |
C |
5: 129,248,995 (GRCm39) |
|
probably null |
Het |
Arhgap11a |
T |
C |
2: 113,672,056 (GRCm39) |
I249V |
probably benign |
Het |
Arhgap22 |
A |
G |
14: 33,088,671 (GRCm39) |
E219G |
probably benign |
Het |
C2cd4b |
T |
A |
9: 67,667,033 (GRCm39) |
S10T |
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,573,998 (GRCm39) |
I224N |
probably damaging |
Het |
Ctrc |
T |
C |
4: 141,568,829 (GRCm39) |
T125A |
probably damaging |
Het |
Cxxc5 |
T |
G |
18: 35,991,642 (GRCm39) |
S14R |
unknown |
Het |
Cyp4f37 |
T |
G |
17: 32,853,652 (GRCm39) |
F445L |
probably damaging |
Het |
Dcbld1 |
T |
G |
10: 52,188,946 (GRCm39) |
I186S |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,289,986 (GRCm39) |
T2510A |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,671,110 (GRCm39) |
I591T |
possibly damaging |
Het |
Dock5 |
A |
T |
14: 68,078,612 (GRCm39) |
I204N |
probably benign |
Het |
Dysf |
G |
A |
6: 84,088,969 (GRCm39) |
|
probably null |
Het |
Erich5 |
A |
G |
15: 34,471,515 (GRCm39) |
E248G |
probably damaging |
Het |
Fhip1a |
A |
G |
3: 85,637,807 (GRCm39) |
V164A |
possibly damaging |
Het |
Foxm1 |
A |
G |
6: 128,350,834 (GRCm39) |
S712G |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,284,055 (GRCm39) |
T959A |
probably benign |
Het |
Gfra4 |
C |
T |
2: 130,882,176 (GRCm39) |
V277I |
probably null |
Het |
Hacd4 |
T |
C |
4: 88,353,247 (GRCm39) |
I82V |
probably benign |
Het |
Itih2 |
C |
T |
2: 10,128,225 (GRCm39) |
V159I |
possibly damaging |
Het |
Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
Marchf11 |
A |
G |
15: 26,311,129 (GRCm39) |
I202V |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,944,902 (GRCm39) |
|
probably null |
Het |
Med12l |
G |
A |
3: 59,154,858 (GRCm39) |
E1135K |
probably damaging |
Het |
Mlx |
T |
C |
11: 100,978,608 (GRCm39) |
L78P |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,400,164 (GRCm39) |
C473R |
unknown |
Het |
N4bp2l1 |
T |
A |
5: 150,500,210 (GRCm39) |
R66* |
probably null |
Het |
Nes |
A |
G |
3: 87,884,479 (GRCm39) |
T913A |
possibly damaging |
Het |
Oas1a |
T |
C |
5: 121,037,322 (GRCm39) |
E235G |
probably damaging |
Het |
Or5p56 |
T |
C |
7: 107,590,396 (GRCm39) |
S275P |
probably damaging |
Het |
Or8b1c |
T |
C |
9: 38,384,504 (GRCm39) |
S154P |
possibly damaging |
Het |
Or8i2 |
T |
A |
2: 86,851,964 (GRCm39) |
H308L |
probably benign |
Het |
Parn |
C |
T |
16: 13,458,158 (GRCm39) |
V286I |
probably benign |
Het |
Paxip1 |
G |
A |
5: 27,970,940 (GRCm39) |
Q470* |
probably null |
Het |
Phc2 |
C |
G |
4: 128,617,503 (GRCm39) |
H510D |
possibly damaging |
Het |
Pla2g4f |
T |
A |
2: 120,135,522 (GRCm39) |
D384V |
probably damaging |
Het |
Plpbp |
A |
T |
8: 27,535,159 (GRCm39) |
N68I |
probably damaging |
Het |
Podxl2 |
G |
A |
6: 88,826,937 (GRCm39) |
A123V |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,473,416 (GRCm39) |
T1737S |
possibly damaging |
Het |
Ppp3cc |
T |
C |
14: 70,462,476 (GRCm39) |
E396G |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,321,352 (GRCm39) |
I228F |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,894,123 (GRCm39) |
C149S |
probably benign |
Het |
Qtrt1 |
G |
T |
9: 21,329,584 (GRCm39) |
M217I |
probably benign |
Het |
Sec24a |
T |
A |
11: 51,620,281 (GRCm39) |
D456V |
probably damaging |
Het |
Shox2 |
T |
G |
3: 66,888,877 (GRCm39) |
|
probably null |
Het |
Skint2 |
T |
A |
4: 112,481,283 (GRCm39) |
S49T |
probably damaging |
Het |
Smarca5 |
A |
G |
8: 81,447,315 (GRCm39) |
|
probably null |
Het |
Sorcs2 |
T |
A |
5: 36,181,916 (GRCm39) |
D1068V |
possibly damaging |
Het |
Tmem114 |
T |
C |
16: 8,229,966 (GRCm39) |
|
probably null |
Het |
Ttc7b |
T |
A |
12: 100,321,305 (GRCm39) |
M24L |
probably benign |
Het |
Ttll3 |
A |
G |
6: 113,385,864 (GRCm39) |
|
probably null |
Het |
Usp7 |
C |
T |
16: 8,522,846 (GRCm39) |
D102N |
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 |
|
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 |
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'- CCAAACAGGACATGCTAGGGTGAC -3'
(R):5'- GAGGGGCATCTTTCAAGGAGCTAAG -3'
Sequencing Primer
(F):5'- CATGCTAGGGTGACACGGG -3'
(R):5'- TTTCAAGGAGCTAAGGTGGTACG -3'
|
Posted On |
2013-07-11 |