Incidental Mutation 'R8904:Mib2'
ID |
678366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
068761-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8904 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155744173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 163
(V163A)
|
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: V163A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: V163A
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: 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: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (66/67) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510009E07Rik |
CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA |
CCGGA |
16: 21,472,148 (GRCm39) |
|
probably null |
Het |
Adcy1 |
T |
G |
11: 7,059,075 (GRCm39) |
L327R |
probably damaging |
Het |
Ajm1 |
A |
T |
2: 25,467,914 (GRCm39) |
S666T |
probably benign |
Het |
Amotl1 |
T |
C |
9: 14,469,861 (GRCm39) |
Q624R |
probably damaging |
Het |
Ampd1 |
A |
G |
3: 102,988,374 (GRCm39) |
T106A |
probably benign |
Het |
Aqr |
T |
A |
2: 113,967,474 (GRCm39) |
I514F |
probably damaging |
Het |
Atp2b1 |
A |
G |
10: 98,804,866 (GRCm39) |
T30A |
possibly damaging |
Het |
Atp9a |
A |
T |
2: 168,547,097 (GRCm39) |
Y186N |
probably benign |
Het |
Bub1 |
T |
A |
2: 127,671,622 (GRCm39) |
N21I |
possibly damaging |
Het |
Cachd1 |
G |
A |
4: 100,810,363 (GRCm39) |
D322N |
probably damaging |
Het |
Ccdc38 |
A |
G |
10: 93,411,197 (GRCm39) |
E402G |
probably damaging |
Het |
Ccl27a |
A |
T |
4: 41,774,194 (GRCm39) |
|
probably null |
Het |
Clec4a4 |
T |
C |
6: 122,990,836 (GRCm39) |
|
probably benign |
Het |
Clic5 |
A |
T |
17: 44,552,992 (GRCm39) |
K82M |
probably benign |
Het |
Cnot10 |
A |
T |
9: 114,430,423 (GRCm39) |
S566T |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
Cyp2c55 |
A |
G |
19: 39,022,816 (GRCm39) |
E318G |
|
Het |
Entpd8 |
A |
C |
2: 24,973,575 (GRCm39) |
|
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,547,936 (GRCm39) |
F156L |
probably damaging |
Het |
Ephb4 |
T |
A |
5: 137,369,067 (GRCm39) |
M819K |
probably damaging |
Het |
Esr1 |
A |
G |
10: 4,696,654 (GRCm39) |
R168G |
possibly damaging |
Het |
Fbxw10 |
C |
A |
11: 62,765,831 (GRCm39) |
Y700* |
probably null |
Het |
Fras1 |
G |
T |
5: 96,929,138 (GRCm39) |
R3847S |
probably benign |
Het |
Gm11110 |
T |
C |
17: 57,410,439 (GRCm39) |
T20A |
unknown |
Het |
Gpr150 |
G |
T |
13: 76,204,528 (GRCm39) |
S139* |
probably null |
Het |
Grm1 |
A |
T |
10: 10,595,281 (GRCm39) |
N782K |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,323,404 (GRCm39) |
S4173G |
possibly damaging |
Het |
Hmx1 |
T |
A |
5: 35,549,511 (GRCm39) |
V268D |
probably damaging |
Het |
Hsbp1l1 |
T |
C |
18: 80,278,685 (GRCm39) |
T33A |
possibly damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,212,194 (GRCm39) |
T161A |
probably damaging |
Het |
Igll1 |
A |
T |
16: 16,681,576 (GRCm39) |
W60R |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,664,893 (GRCm39) |
T593A |
probably benign |
Het |
Kat6a |
A |
G |
8: 23,428,824 (GRCm39) |
D1393G |
possibly damaging |
Het |
Krt36 |
A |
G |
11: 99,996,173 (GRCm39) |
F84L |
probably benign |
Het |
Macrod1 |
T |
C |
19: 7,174,385 (GRCm39) |
S266P |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,248,284 (GRCm39) |
T104A |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,301,263 (GRCm39) |
L534P |
|
Het |
Myo3b |
C |
A |
2: 70,257,252 (GRCm39) |
H1317N |
probably benign |
Het |
Nkx2-6 |
A |
G |
14: 69,409,420 (GRCm39) |
D57G |
probably benign |
Het |
Or1ab2 |
A |
G |
8: 72,864,276 (GRCm39) |
I289V |
probably damaging |
Het |
Or5b24 |
T |
C |
19: 12,912,192 (GRCm39) |
V30A |
probably benign |
Het |
Or5d46 |
T |
G |
2: 88,169,949 (GRCm39) |
F13L |
possibly damaging |
Het |
Or5p79 |
A |
G |
7: 108,221,919 (GRCm39) |
N300S |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,665 (GRCm39) |
Y62H |
probably damaging |
Het |
Or7g33 |
A |
T |
9: 19,448,760 (GRCm39) |
D155E |
possibly damaging |
Het |
Osbpl11 |
T |
A |
16: 33,047,607 (GRCm39) |
H523Q |
probably damaging |
Het |
Pde1c |
A |
T |
6: 56,156,128 (GRCm39) |
S148T |
possibly damaging |
Het |
Pign |
G |
A |
1: 105,519,359 (GRCm39) |
A521V |
possibly damaging |
Het |
Pprc1 |
A |
G |
19: 46,060,183 (GRCm39) |
M1536V |
possibly damaging |
Het |
Prg4 |
C |
A |
1: 150,331,810 (GRCm39) |
A288S |
possibly damaging |
Het |
Prim2 |
A |
T |
1: 33,669,513 (GRCm39) |
I154N |
possibly damaging |
Het |
Prkdc |
T |
C |
16: 15,545,590 (GRCm39) |
V1902A |
probably benign |
Het |
Prss40 |
C |
T |
1: 34,595,045 (GRCm39) |
|
probably benign |
Het |
Ret |
C |
T |
6: 118,157,174 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
Schip1 |
T |
C |
3: 68,402,436 (GRCm39) |
L199P |
possibly damaging |
Het |
Sema4d |
A |
T |
13: 51,854,935 (GRCm39) |
L54* |
probably null |
Het |
Sgsm1 |
C |
T |
5: 113,421,495 (GRCm39) |
G531R |
probably benign |
Het |
Tas1r2 |
T |
C |
4: 139,394,714 (GRCm39) |
F519S |
probably damaging |
Het |
Tnfsf11 |
C |
T |
14: 78,516,119 (GRCm39) |
R283Q |
possibly damaging |
Het |
Tril |
C |
T |
6: 53,797,202 (GRCm39) |
V7M |
possibly damaging |
Het |
Tsr1 |
T |
A |
11: 74,790,217 (GRCm39) |
Y137* |
probably null |
Het |
Ubr5 |
A |
G |
15: 38,042,153 (GRCm39) |
S148P |
|
Het |
Unc13b |
A |
G |
4: 43,178,531 (GRCm39) |
|
probably benign |
Het |
Zfp606 |
A |
G |
7: 12,223,506 (GRCm39) |
T64A |
possibly 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 |
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 |
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'- ACGTTCGTGGTTCCATCTGC -3'
(R):5'- TACAGAGTCCCTATCCTAATGACCC -3'
Sequencing Primer
(F):5'- GTCACACTGGCCACACTTCG -3'
(R):5'- CTAATGACCCAGATGCCGTTAGG -3'
|
Posted On |
2021-08-02 |