Incidental Mutation 'R5915:Mib2'
ID |
461247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
044112-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 155740508 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: ENSMUST00000139788
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (60/61) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
Adgrg7 |
A |
T |
16: 56,550,748 (GRCm39) |
|
probably null |
Het |
Alox12e |
T |
C |
11: 70,209,050 (GRCm39) |
I399V |
possibly damaging |
Het |
Apoa5 |
C |
A |
9: 46,180,607 (GRCm39) |
Q42K |
probably damaging |
Het |
Arfgap1 |
A |
G |
2: 180,620,215 (GRCm39) |
Y243C |
possibly damaging |
Het |
Arhgap12 |
A |
G |
18: 6,037,016 (GRCm39) |
|
probably null |
Het |
Arl16 |
G |
A |
11: 120,357,431 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,370,577 (GRCm39) |
D951G |
probably damaging |
Het |
Babam2 |
T |
A |
5: 31,942,955 (GRCm39) |
L80Q |
probably damaging |
Het |
Celsr1 |
C |
T |
15: 85,822,176 (GRCm39) |
V1714I |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,914,550 (GRCm39) |
R1141H |
probably damaging |
Het |
Cep295 |
A |
G |
9: 15,252,775 (GRCm39) |
L351P |
probably damaging |
Het |
Dlc1 |
T |
A |
8: 37,405,829 (GRCm39) |
|
probably benign |
Het |
Dpy30 |
G |
T |
17: 74,622,906 (GRCm39) |
D25E |
probably benign |
Het |
Drosha |
T |
C |
15: 12,935,152 (GRCm39) |
W998R |
probably damaging |
Het |
Fibp |
A |
G |
19: 5,513,644 (GRCm39) |
D220G |
possibly damaging |
Het |
Grm3 |
C |
T |
5: 9,561,927 (GRCm39) |
C641Y |
probably damaging |
Het |
Gulo |
A |
T |
14: 66,245,570 (GRCm39) |
V8D |
probably benign |
Het |
Ifrd1 |
A |
T |
12: 40,263,095 (GRCm39) |
C164S |
possibly damaging |
Het |
Jam2 |
G |
A |
16: 84,606,295 (GRCm39) |
S103N |
probably benign |
Het |
Krtap17-1 |
T |
C |
11: 99,884,444 (GRCm39) |
T108A |
unknown |
Het |
Man2a2 |
A |
G |
7: 80,010,669 (GRCm39) |
F774S |
probably benign |
Het |
Map1b |
G |
A |
13: 99,566,839 (GRCm39) |
R1961W |
unknown |
Het |
Mr1 |
A |
T |
1: 155,012,534 (GRCm39) |
F127I |
probably damaging |
Het |
Mrgprb2 |
A |
G |
7: 48,202,554 (GRCm39) |
I57T |
probably benign |
Het |
Ncan |
G |
T |
8: 70,550,731 (GRCm39) |
Y1154* |
probably null |
Het |
Nfx1 |
T |
A |
4: 40,977,285 (GRCm39) |
S320T |
probably benign |
Het |
Nlrp4f |
A |
G |
13: 65,335,369 (GRCm39) |
L740P |
probably damaging |
Het |
Nprl2 |
T |
C |
9: 107,422,277 (GRCm39) |
|
probably benign |
Het |
Opn1sw |
A |
G |
6: 29,379,754 (GRCm39) |
|
probably null |
Het |
Or5bw2 |
A |
T |
7: 6,573,172 (GRCm39) |
I61F |
probably benign |
Het |
Palld |
A |
G |
8: 61,986,386 (GRCm39) |
|
probably null |
Het |
Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,433,549 (GRCm39) |
|
probably null |
Het |
Sbf2 |
A |
T |
7: 109,977,303 (GRCm39) |
C610* |
probably null |
Het |
Sec24a |
C |
T |
11: 51,646,964 (GRCm39) |
A13T |
probably benign |
Het |
Smim8 |
TCTCCTC |
TCTC |
4: 34,769,010 (GRCm39) |
|
probably benign |
Het |
Sox8 |
A |
C |
17: 25,786,443 (GRCm39) |
L420R |
probably damaging |
Het |
Sry |
C |
G |
Y: 2,662,612 (GRCm39) |
Q349H |
unknown |
Het |
Sspo |
A |
G |
6: 48,441,530 (GRCm39) |
D1889G |
probably benign |
Het |
Sspo |
A |
T |
6: 48,468,418 (GRCm39) |
H4382L |
possibly damaging |
Het |
Tmem65 |
T |
C |
15: 58,662,037 (GRCm39) |
I141V |
probably damaging |
Het |
Tpr |
A |
T |
1: 150,301,400 (GRCm39) |
T1329S |
probably benign |
Het |
Trim17 |
C |
T |
11: 58,859,388 (GRCm39) |
R201W |
probably damaging |
Het |
Trim3 |
A |
G |
7: 105,267,182 (GRCm39) |
L399P |
possibly damaging |
Het |
Trim7 |
A |
G |
11: 48,736,477 (GRCm39) |
D277G |
possibly damaging |
Het |
Vstm2b |
A |
G |
7: 40,552,107 (GRCm39) |
N153S |
possibly damaging |
Het |
Wnk2 |
G |
T |
13: 49,231,561 (GRCm39) |
Q786K |
probably damaging |
Het |
Wnk4 |
A |
G |
11: 101,154,720 (GRCm39) |
*286W |
probably null |
Het |
Xpot |
A |
T |
10: 121,450,998 (GRCm39) |
L134Q |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zc3h7a |
G |
A |
16: 10,982,466 (GRCm39) |
Q20* |
probably null |
Het |
Zfp599 |
C |
T |
9: 22,161,130 (GRCm39) |
C345Y |
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 |
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'- AAACTCTGAGATCCTTCATCCC -3'
(R):5'- AACCGGAAGCTTCAGTCTCC -3'
Sequencing Primer
(F):5'- TGAGATCCTTCATCCCAAATGG -3'
(R):5'- CCACTTCATCTGGCTGTACAG -3'
|
Posted On |
2017-02-28 |