Incidental Mutation 'R3752:Mib2'
ID |
271252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mib2
|
Ensembl Gene |
ENSMUSG00000029060 |
Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
Synonyms |
Zzank1, 2210008I11Rik |
MMRRC Submission |
040737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3752 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155739741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 810
(F810S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099465
(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 damaging
Transcript: ENSMUST00000103176
AA Change: F810S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099465 Gene: ENSMUSG00000029060 AA Change: F810S
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: ENSMUST00000151843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156906
|
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 |
|
Meta Mutation Damage Score |
0.2813 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (49/49) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 11,588,904 (GRCm39) |
I107N |
probably damaging |
Het |
Adh1 |
G |
A |
3: 137,994,555 (GRCm39) |
V292I |
probably benign |
Het |
Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
Cep170 |
A |
G |
1: 176,610,061 (GRCm39) |
|
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,458,215 (GRCm39) |
P1120S |
probably damaging |
Het |
Cramp1 |
A |
T |
17: 25,190,532 (GRCm39) |
N1067K |
probably damaging |
Het |
Dhrs7c |
A |
G |
11: 67,702,281 (GRCm39) |
T90A |
probably damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Eml6 |
C |
A |
11: 29,759,360 (GRCm39) |
V798F |
probably benign |
Het |
Ext1 |
A |
T |
15: 52,939,306 (GRCm39) |
V581E |
probably damaging |
Het |
Fbf1 |
C |
T |
11: 116,038,622 (GRCm39) |
R833Q |
probably benign |
Het |
Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
Gm10521 |
A |
G |
1: 171,723,712 (GRCm39) |
T8A |
unknown |
Het |
Hapln4 |
A |
T |
8: 70,539,615 (GRCm39) |
L215F |
probably damaging |
Het |
Hmgcr |
T |
C |
13: 96,799,624 (GRCm39) |
I157V |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,640,086 (GRCm39) |
C1700S |
probably damaging |
Het |
Lama5 |
C |
T |
2: 179,829,015 (GRCm39) |
C2042Y |
probably damaging |
Het |
Lrrc9 |
T |
G |
12: 72,507,580 (GRCm39) |
Y360* |
probably null |
Het |
Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
Mdc1 |
C |
T |
17: 36,156,821 (GRCm39) |
A76V |
probably damaging |
Het |
Mei1 |
C |
T |
15: 81,970,383 (GRCm39) |
T428M |
probably damaging |
Het |
Nobox |
T |
G |
6: 43,284,167 (GRCm39) |
K126N |
probably damaging |
Het |
Ogn |
C |
T |
13: 49,776,307 (GRCm39) |
L249F |
probably benign |
Het |
Or10ag59 |
A |
G |
2: 87,406,057 (GRCm39) |
I210V |
probably benign |
Het |
Or6a2 |
A |
T |
7: 106,600,682 (GRCm39) |
Y128* |
probably null |
Het |
Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
Pcdhb15 |
T |
A |
18: 37,606,810 (GRCm39) |
V14E |
probably damaging |
Het |
Perm1 |
A |
T |
4: 156,302,403 (GRCm39) |
I316L |
probably benign |
Het |
Plxnb2 |
G |
A |
15: 89,041,458 (GRCm39) |
|
probably benign |
Het |
Rab3il1 |
A |
T |
19: 10,007,841 (GRCm39) |
T227S |
probably benign |
Het |
Rag2 |
A |
T |
2: 101,461,121 (GRCm39) |
Y477F |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,263,551 (GRCm39) |
V722E |
possibly damaging |
Het |
Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
Sh2b1 |
A |
G |
7: 126,067,959 (GRCm39) |
V565A |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,700,096 (GRCm39) |
|
probably benign |
Het |
Slc47a1 |
C |
T |
11: 61,235,207 (GRCm39) |
R542Q |
possibly damaging |
Het |
Slc6a5 |
T |
C |
7: 49,586,062 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
C |
A |
2: 167,299,272 (GRCm39) |
H215N |
probably benign |
Het |
Slit1 |
C |
T |
19: 41,635,406 (GRCm39) |
|
probably null |
Het |
Snx1 |
A |
T |
9: 66,012,933 (GRCm39) |
|
probably null |
Het |
Tbc1d30 |
T |
A |
10: 121,108,073 (GRCm39) |
N443I |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,061,443 (GRCm39) |
M565K |
probably benign |
Het |
Traf3ip1 |
T |
C |
1: 91,428,639 (GRCm39) |
|
probably benign |
Het |
Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
Vldlr |
G |
A |
19: 27,215,731 (GRCm39) |
E243K |
probably damaging |
Het |
Vps35 |
A |
G |
8: 86,001,460 (GRCm39) |
S453P |
probably benign |
Het |
Zfp644 |
A |
G |
5: 106,784,249 (GRCm39) |
V766A |
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 |
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 |
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'- TCTTGCTGATGACCACCTGG -3'
(R):5'- TTCAGGTGAGCCCATGATG -3'
Sequencing Primer
(F):5'- TGATGACCACCTGGCACCTG -3'
(R):5'- CAACCATTAAGGCCATTGGG -3'
|
Posted On |
2015-03-18 |