Incidental Mutation 'R2072:Mib2'
| ID |
227209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mib2
|
| Ensembl Gene |
ENSMUSG00000029060 |
| Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
| Synonyms |
2210008I11Rik, Zzank1 |
| MMRRC Submission |
040077-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2072 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155654677-155669198 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155659701 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 168
(D168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103176]
[ENSMUST00000141108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103176
AA Change: D168G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: D168G
| 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 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155189
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
Strain: 3652500; 3804450
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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
C |
5: 63,898,737 (GRCm38) |
R272P |
possibly damaging |
Het |
| 9130011E15Rik |
A |
T |
19: 45,965,381 (GRCm38) |
I188K |
probably damaging |
Het |
| Ablim3 |
A |
T |
18: 61,857,088 (GRCm38) |
D83E |
possibly damaging |
Het |
| Aco1 |
G |
A |
4: 40,183,605 (GRCm38) |
G508S |
probably damaging |
Het |
| Adamts13 |
C |
A |
2: 27,005,425 (GRCm38) |
T1176N |
probably benign |
Het |
| Adgre5 |
T |
C |
8: 83,727,804 (GRCm38) |
T357A |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,332,483 (GRCm38) |
R511H |
probably damaging |
Het |
| Ankrd33 |
T |
C |
15: 101,119,636 (GRCm38) |
V310A |
probably benign |
Het |
| Bnipl |
C |
T |
3: 95,244,211 (GRCm38) |
G232E |
probably damaging |
Het |
| Btbd17 |
A |
T |
11: 114,791,952 (GRCm38) |
|
probably null |
Het |
| Cacna1s |
G |
A |
1: 136,079,504 (GRCm38) |
V173I |
probably benign |
Het |
| Ccdc122 |
T |
C |
14: 77,068,951 (GRCm38) |
|
probably null |
Het |
| Ces1a |
T |
A |
8: 93,048,075 (GRCm38) |
N12Y |
probably benign |
Het |
| Chrdl1 |
T |
C |
X: 143,303,418 (GRCm38) |
I231V |
probably benign |
Het |
| Ciita |
C |
T |
16: 10,518,353 (GRCm38) |
T958I |
probably benign |
Het |
| Cnot1 |
G |
T |
8: 95,739,833 (GRCm38) |
T1592K |
possibly damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,101,741 (GRCm38) |
D240G |
probably damaging |
Het |
| Ddx58 |
A |
T |
4: 40,224,069 (GRCm38) |
|
probably null |
Het |
| Dlgap1 |
C |
T |
17: 70,662,770 (GRCm38) |
R524C |
probably damaging |
Het |
| Dmd |
G |
C |
X: 84,312,483 (GRCm38) |
A2257P |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,275,252 (GRCm38) |
M453V |
probably benign |
Het |
| Ednrb |
G |
T |
14: 103,817,099 (GRCm38) |
N432K |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 28,120,389 (GRCm38) |
G2514S |
probably damaging |
Het |
| Fez1 |
A |
G |
9: 36,867,945 (GRCm38) |
K306R |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,809,887 (GRCm38) |
V12A |
probably benign |
Het |
| Fpgt |
T |
C |
3: 155,087,874 (GRCm38) |
Y172C |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 83,008,815 (GRCm38) |
F6976I |
possibly damaging |
Het |
| Galnt12 |
C |
T |
4: 47,108,477 (GRCm38) |
R205* |
probably null |
Het |
| Grik5 |
A |
T |
7: 25,015,313 (GRCm38) |
M752K |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 56,226,964 (GRCm38) |
N4516S |
probably damaging |
Het |
| Ifrd2 |
A |
T |
9: 107,592,545 (GRCm38) |
D439V |
probably damaging |
Het |
| Igsf3 |
A |
G |
3: 101,439,515 (GRCm38) |
T609A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,245,369 (GRCm38) |
D232G |
probably damaging |
Het |
| Lgi2 |
A |
G |
5: 52,538,505 (GRCm38) |
S371P |
probably damaging |
Het |
| March3 |
A |
T |
18: 56,811,853 (GRCm38) |
V56E |
possibly damaging |
Het |
| Nhs |
T |
A |
X: 161,842,721 (GRCm38) |
H544L |
probably damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,325,006 (GRCm38) |
S683P |
probably damaging |
Het |
| Olfr1260 |
C |
A |
2: 89,978,213 (GRCm38) |
T145K |
probably benign |
Het |
| Olfr1454 |
A |
T |
19: 13,063,680 (GRCm38) |
M90L |
probably benign |
Het |
| Olfr527 |
T |
C |
7: 140,336,653 (GRCm38) |
S264P |
possibly damaging |
Het |
| Onecut3 |
T |
G |
10: 80,495,014 (GRCm38) |
L3V |
unknown |
Het |
| Otogl |
C |
T |
10: 107,781,043 (GRCm38) |
C1791Y |
probably damaging |
Het |
| Paip1 |
T |
C |
13: 119,430,262 (GRCm38) |
V128A |
possibly damaging |
Het |
| Pcnx2 |
A |
T |
8: 125,761,742 (GRCm38) |
C1688S |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,385,819 (GRCm38) |
L955P |
probably damaging |
Het |
| Phlpp2 |
T |
C |
8: 109,928,492 (GRCm38) |
S605P |
possibly damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,558,639 (GRCm38) |
A3102S |
probably damaging |
Het |
| Plxnb2 |
G |
T |
15: 89,158,451 (GRCm38) |
R1545S |
probably damaging |
Het |
| Ppp4c |
T |
C |
7: 126,787,348 (GRCm38) |
|
probably null |
Het |
| Prune1 |
C |
T |
3: 95,255,408 (GRCm38) |
R318Q |
probably benign |
Het |
| Psg27 |
A |
G |
7: 18,565,009 (GRCm38) |
L129P |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,560,417 (GRCm38) |
D355G |
probably damaging |
Het |
| Psmc6 |
A |
G |
14: 45,329,866 (GRCm38) |
K7E |
possibly damaging |
Het |
| Reln |
A |
T |
5: 21,919,177 (GRCm38) |
V2777E |
probably damaging |
Het |
| Scn11a |
G |
T |
9: 119,811,208 (GRCm38) |
A207E |
possibly damaging |
Het |
| Slc5a5 |
C |
T |
8: 70,892,439 (GRCm38) |
G75R |
possibly damaging |
Het |
| Smarcd2 |
A |
T |
11: 106,265,307 (GRCm38) |
L42* |
probably null |
Het |
| Smg1 |
T |
C |
7: 118,163,166 (GRCm38) |
|
probably benign |
Het |
| Smurf2 |
T |
A |
11: 106,841,769 (GRCm38) |
Q335L |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,473,517 (GRCm38) |
H2580L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 34,959,049 (GRCm38) |
M256V |
possibly damaging |
Het |
| Syt1 |
A |
G |
10: 108,583,972 (GRCm38) |
I276T |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,790,776 (GRCm38) |
D456N |
probably damaging |
Het |
| Taar9 |
A |
T |
10: 24,108,979 (GRCm38) |
C186S |
probably damaging |
Het |
| Tnrc6b |
C |
T |
15: 80,882,965 (GRCm38) |
P977L |
possibly damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,458,867 (GRCm38) |
T1091A |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,937,776 (GRCm38) |
T2947N |
probably damaging |
Het |
| Ube2q1 |
T |
C |
3: 89,779,571 (GRCm38) |
|
probably null |
Het |
| Ube3c |
A |
G |
5: 29,635,640 (GRCm38) |
E671G |
probably benign |
Het |
| Upf3a |
A |
G |
8: 13,785,850 (GRCm38) |
K56R |
possibly damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,286,753 (GRCm38) |
M695K |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,275,072 (GRCm38) |
M402K |
possibly damaging |
Het |
| Zfp354b |
T |
A |
11: 50,922,452 (GRCm38) |
R549* |
probably null |
Het |
| Zfp37 |
A |
T |
4: 62,191,708 (GRCm38) |
M411K |
probably damaging |
Het |
| Zfp747 |
T |
A |
7: 127,373,970 (GRCm38) |
T343S |
possibly damaging |
Het |
| Zfp853 |
T |
A |
5: 143,289,382 (GRCm38) |
Q161L |
unknown |
Het |
|
| Other mutations in Mib2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01014:Mib2
|
APN |
4 |
155,657,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01404:Mib2
|
APN |
4 |
155,654,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01819:Mib2
|
APN |
4 |
155,655,258 (GRCm38) |
splice site |
probably null |
|
|
IGL02147:Mib2
|
APN |
4 |
155,657,687 (GRCm38) |
missense |
probably benign |
|
|
IGL02260:Mib2
|
APN |
4 |
155,661,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02472:Mib2
|
APN |
4 |
155,656,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02632:Mib2
|
APN |
4 |
155,655,579 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03051:Mib2
|
APN |
4 |
155,657,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03077:Mib2
|
APN |
4 |
155,659,443 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0042:Mib2
|
UTSW |
4 |
155,659,440 (GRCm38) |
nonsense |
probably null |
|
|
R0042:Mib2
|
UTSW |
4 |
155,659,440 (GRCm38) |
nonsense |
probably null |
|
|
R0115:Mib2
|
UTSW |
4 |
155,656,062 (GRCm38) |
unclassified |
probably benign |
|
|
R0193:Mib2
|
UTSW |
4 |
155,655,673 (GRCm38) |
missense |
probably benign |
|
|
R0279:Mib2
|
UTSW |
4 |
155,661,216 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0373:Mib2
|
UTSW |
4 |
155,656,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0481:Mib2
|
UTSW |
4 |
155,656,062 (GRCm38) |
unclassified |
probably benign |
|
|
R0563:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0564:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0625:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0714:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0740:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0942:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0987:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1023:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1033:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1037:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1460:Mib2
|
UTSW |
4 |
155,659,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1481:Mib2
|
UTSW |
4 |
155,656,999 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1712:Mib2
|
UTSW |
4 |
155,654,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2015:Mib2
|
UTSW |
4 |
155,657,880 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2131:Mib2
|
UTSW |
4 |
155,655,238 (GRCm38) |
splice site |
probably null |
|
|
R2187:Mib2
|
UTSW |
4 |
155,654,933 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3751:Mib2
|
UTSW |
4 |
155,655,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3752:Mib2
|
UTSW |
4 |
155,655,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3753:Mib2
|
UTSW |
4 |
155,655,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4381:Mib2
|
UTSW |
4 |
155,657,612 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R4584:Mib2
|
UTSW |
4 |
155,657,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4669:Mib2
|
UTSW |
4 |
155,657,415 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4754:Mib2
|
UTSW |
4 |
155,655,365 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4782:Mib2
|
UTSW |
4 |
155,659,772 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4799:Mib2
|
UTSW |
4 |
155,659,772 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5036:Mib2
|
UTSW |
4 |
155,656,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5073:Mib2
|
UTSW |
4 |
155,656,776 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5915:Mib2
|
UTSW |
4 |
155,656,051 (GRCm38) |
unclassified |
probably benign |
|
|
R6695:Mib2
|
UTSW |
4 |
155,661,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7039:Mib2
|
UTSW |
4 |
155,659,701 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7234:Mib2
|
UTSW |
4 |
155,657,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7582:Mib2
|
UTSW |
4 |
155,654,810 (GRCm38) |
missense |
probably benign |
|
|
R8133:Mib2
|
UTSW |
4 |
155,657,001 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8704:Mib2
|
UTSW |
4 |
155,659,163 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8904:Mib2
|
UTSW |
4 |
155,659,716 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8987:Mib2
|
UTSW |
4 |
155,660,894 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8988:Mib2
|
UTSW |
4 |
155,656,272 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R9336:Mib2
|
UTSW |
4 |
155,658,937 (GRCm38) |
missense |
probably benign |
|
|
R9537:Mib2
|
UTSW |
4 |
155,657,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9640:Mib2
|
UTSW |
4 |
155,660,868 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
X0012:Mib2
|
UTSW |
4 |
155,655,395 (GRCm38) |
splice site |
probably null |
|
|
Z1176:Mib2
|
UTSW |
4 |
155,661,141 (GRCm38) |
missense |
probably benign |
0.06 |
|
Z1177:Mib2
|
UTSW |
4 |
155,655,521 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACACGTTCGTGGTTCCATCTG -3'
(R):5'- AATGACCCAGATGCCGTTAGG -3'
Sequencing Primer
(F):5'- GTCACACTGGCCACACTTCG -3'
(R):5'- CCCAGATGCCGTTAGGAGAGAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation