Incidental Mutation 'R7582:Mib2'
ID |
586785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
045665-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7582 (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 155739267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 904
(N904S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030937]
[ENSMUST00000067081]
[ENSMUST00000103176]
[ENSMUST00000105598]
[ENSMUST00000105600]
[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: ENSMUST00000067081
|
SMART Domains |
Protein: ENSMUSP00000070527 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
S_TKc
|
427 |
712 |
5.05e-93 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103176
AA Change: N904S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: N904S
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: ENSMUST00000105598
|
SMART Domains |
Protein: ENSMUSP00000101223 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
low complexity region
|
59 |
78 |
N/A |
INTRINSIC |
coiled coil region
|
89 |
180 |
N/A |
INTRINSIC |
low complexity region
|
218 |
225 |
N/A |
INTRINSIC |
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
303 |
N/A |
INTRINSIC |
low complexity region
|
335 |
349 |
N/A |
INTRINSIC |
S_TKc
|
393 |
678 |
5.05e-93 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105600
|
SMART Domains |
Protein: ENSMUSP00000101225 Gene: ENSMUSG00000029062
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
48 |
N/A |
INTRINSIC |
low complexity region
|
93 |
112 |
N/A |
INTRINSIC |
coiled coil region
|
123 |
214 |
N/A |
INTRINSIC |
low complexity region
|
252 |
259 |
N/A |
INTRINSIC |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
coiled coil region
|
290 |
337 |
N/A |
INTRINSIC |
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
S_TKc
|
427 |
712 |
5.05e-93 |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,266,565 (GRCm39) |
V1007A |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,841,523 (GRCm39) |
V800A |
probably damaging |
Het |
Ankfn1 |
T |
A |
11: 89,417,445 (GRCm39) |
M56L |
probably benign |
Het |
Arfgap3 |
A |
C |
15: 83,187,302 (GRCm39) |
V72G |
possibly damaging |
Het |
B3galnt2 |
C |
T |
13: 14,165,986 (GRCm39) |
R294W |
probably damaging |
Het |
Cadm1 |
G |
T |
9: 47,708,740 (GRCm39) |
D157Y |
probably damaging |
Het |
Castor1 |
T |
C |
11: 4,170,457 (GRCm39) |
V151A |
probably benign |
Het |
Ccdc81 |
A |
T |
7: 89,525,353 (GRCm39) |
Y474N |
probably damaging |
Het |
Cdkl4 |
T |
A |
17: 80,841,264 (GRCm39) |
K297I |
probably benign |
Het |
Cep128 |
G |
A |
12: 91,314,340 (GRCm39) |
T146M |
probably damaging |
Het |
Cfap161 |
T |
C |
7: 83,426,290 (GRCm39) |
N236S |
possibly damaging |
Het |
Chil3 |
A |
T |
3: 106,071,572 (GRCm39) |
W31R |
probably damaging |
Het |
Cmtm2b |
C |
T |
8: 105,049,353 (GRCm39) |
S86F |
probably damaging |
Het |
Cntnap5a |
G |
A |
1: 116,374,362 (GRCm39) |
G958D |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,822,625 (GRCm39) |
L244P |
unknown |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,821,905 (GRCm39) |
Y1857H |
probably damaging |
Het |
Dst |
A |
G |
1: 34,208,964 (GRCm39) |
Q1154R |
probably damaging |
Het |
Fgg |
G |
A |
3: 82,921,445 (GRCm39) |
G376D |
probably damaging |
Het |
Fmn2 |
T |
C |
1: 174,526,356 (GRCm39) |
S1392P |
probably damaging |
Het |
Focad |
T |
C |
4: 88,147,615 (GRCm39) |
V418A |
probably benign |
Het |
Foxf1 |
A |
T |
8: 121,811,430 (GRCm39) |
H98L |
possibly damaging |
Het |
Frmd4a |
C |
CA |
2: 4,599,408 (GRCm39) |
|
probably null |
Het |
Fry |
C |
A |
5: 150,419,847 (GRCm39) |
T639K |
|
Het |
Fryl |
A |
G |
5: 73,179,843 (GRCm39) |
|
probably null |
Het |
Gdpd4 |
A |
G |
7: 97,607,012 (GRCm39) |
|
probably null |
Het |
Gpt2 |
A |
G |
8: 86,246,145 (GRCm39) |
K368R |
probably damaging |
Het |
Hc |
A |
T |
2: 34,881,278 (GRCm39) |
V1447E |
possibly damaging |
Het |
Kmt5a |
A |
G |
5: 124,597,982 (GRCm39) |
T280A |
probably benign |
Het |
Lrrc4b |
G |
T |
7: 44,111,234 (GRCm39) |
V369L |
probably benign |
Het |
Ly6g5c |
A |
G |
17: 35,330,783 (GRCm39) |
M102V |
probably benign |
Het |
Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
Mug2 |
G |
A |
6: 122,056,603 (GRCm39) |
V1183I |
probably damaging |
Het |
Nckap1l |
C |
T |
15: 103,390,587 (GRCm39) |
T786I |
probably damaging |
Het |
Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
Neu3 |
A |
G |
7: 99,463,174 (GRCm39) |
V183A |
probably benign |
Het |
Nod1 |
A |
G |
6: 54,921,292 (GRCm39) |
L342P |
probably damaging |
Het |
Nop58 |
T |
C |
1: 59,740,097 (GRCm39) |
V163A |
probably damaging |
Het |
Npr3 |
C |
T |
15: 11,895,768 (GRCm39) |
G293R |
probably null |
Het |
Obscn |
T |
A |
11: 58,952,253 (GRCm39) |
K3939* |
probably null |
Het |
Or4d10c |
G |
A |
19: 12,065,370 (GRCm39) |
A262V |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,136,793 (GRCm39) |
M81K |
probably damaging |
Het |
Or5k16 |
A |
T |
16: 58,736,410 (GRCm39) |
M198K |
possibly damaging |
Het |
Or5p76 |
A |
G |
7: 108,123,058 (GRCm39) |
I33T |
probably benign |
Het |
Or8b12b |
T |
C |
9: 37,684,117 (GRCm39) |
L54P |
probably damaging |
Het |
P2ry6 |
A |
G |
7: 100,587,784 (GRCm39) |
Y192H |
probably damaging |
Het |
Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
Pign |
G |
A |
1: 105,577,092 (GRCm39) |
T197I |
probably benign |
Het |
Pirb |
A |
T |
7: 3,716,817 (GRCm39) |
|
probably null |
Het |
Pkdrej |
C |
A |
15: 85,703,122 (GRCm39) |
R938L |
possibly damaging |
Het |
Psg21 |
A |
G |
7: 18,381,128 (GRCm39) |
*472R |
probably null |
Het |
Rabgap1l |
A |
T |
1: 160,509,654 (GRCm39) |
S474R |
probably benign |
Het |
Rrn3 |
C |
T |
16: 13,628,375 (GRCm39) |
Q519* |
probably null |
Het |
Seh1l |
A |
T |
18: 67,908,188 (GRCm39) |
K37* |
probably null |
Het |
Shprh |
A |
G |
10: 11,040,449 (GRCm39) |
S641G |
probably benign |
Het |
Slc4a1 |
T |
G |
11: 102,243,403 (GRCm39) |
S743R |
probably damaging |
Het |
Snx13 |
C |
T |
12: 35,174,534 (GRCm39) |
R688* |
probably null |
Het |
Tlr11 |
C |
T |
14: 50,599,186 (GRCm39) |
Q391* |
probably null |
Het |
Tmbim4 |
A |
G |
10: 120,053,471 (GRCm39) |
H90R |
probably benign |
Het |
Trav8d-1 |
T |
C |
14: 53,016,326 (GRCm39) |
S71P |
possibly damaging |
Het |
Trbv5 |
G |
A |
6: 41,039,617 (GRCm39) |
R74Q |
probably benign |
Het |
Tril |
A |
G |
6: 53,795,921 (GRCm39) |
S434P |
probably benign |
Het |
Uhmk1 |
A |
G |
1: 170,027,570 (GRCm39) |
Y376H |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,170,914 (GRCm39) |
C317R |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,476,225 (GRCm39) |
C377Y |
probably benign |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr41 |
T |
C |
13: 95,142,275 (GRCm39) |
S150P |
probably damaging |
Het |
Zfp617 |
T |
A |
8: 72,685,864 (GRCm39) |
Y65N |
probably benign |
Het |
Zfp800 |
A |
C |
6: 28,244,089 (GRCm39) |
V292G |
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 |
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'- ATCCAGAGCGTTCCTGATCTC -3'
(R):5'- TAAATGCCATCCAGGTGCC -3'
Sequencing Primer
(F):5'- AGTCTGGAGCCTGATGCC -3'
(R):5'- CATCCAGGTGCCCGGCC -3'
|
Posted On |
2019-10-24 |