Incidental Mutation 'R1481:Mib2'
| ID |
164360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mib2
|
| Ensembl Gene |
ENSMUSG00000029060 |
| Gene Name |
mindbomb E3 ubiquitin protein ligase 2 |
| Synonyms |
Zzank1, 2210008I11Rik |
| MMRRC Submission |
039534-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1481 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155739134-155753655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155741456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 357
(S357C)
|
| 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
AA Change: S496C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: S496C
| 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: ENSMUST00000139242
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141108
AA Change: S357C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: S357C
| 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: ENSMUST00000156906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139788
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (71/71) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
A |
G |
6: 43,251,568 (GRCm39) |
H773R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,062,583 (GRCm39) |
V3365A |
probably damaging |
Het |
| Bmp3 |
G |
A |
5: 99,020,329 (GRCm39) |
V251M |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,148,722 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
C |
T |
18: 22,238,678 (GRCm39) |
G313D |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,459 (GRCm39) |
I129F |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,609,951 (GRCm39) |
Q120R |
possibly damaging |
Het |
| Ckb |
T |
C |
12: 111,637,696 (GRCm39) |
H145R |
probably benign |
Het |
| Cntnap5a |
T |
A |
1: 116,045,393 (GRCm39) |
N336K |
probably damaging |
Het |
| Coil |
T |
A |
11: 88,864,886 (GRCm39) |
C38S |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,183,041 (GRCm39) |
V133A |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,094 (GRCm39) |
E943G |
probably damaging |
Het |
| Cyp2c54 |
C |
T |
19: 40,036,032 (GRCm39) |
D293N |
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,302 (GRCm39) |
S72P |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,601,902 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,731,918 (GRCm39) |
T1158A |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,583,941 (GRCm39) |
V469I |
probably benign |
Het |
| Efcab14 |
A |
G |
4: 115,613,714 (GRCm39) |
T221A |
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 21,956,782 (GRCm39) |
*1207W |
probably null |
Het |
| Eln |
T |
C |
5: 134,735,426 (GRCm39) |
K786E |
probably damaging |
Het |
| Fyb1 |
C |
T |
15: 6,649,128 (GRCm39) |
P385S |
probably benign |
Het |
| Galr1 |
A |
G |
18: 82,423,866 (GRCm39) |
I137T |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 77,966,999 (GRCm39) |
K73* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,032,480 (GRCm39) |
N775D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,788,435 (GRCm39) |
H147Y |
probably damaging |
Het |
| Gm10754 |
G |
T |
10: 97,518,089 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,137 (GRCm39) |
D569G |
probably damaging |
Het |
| Grina |
T |
A |
15: 76,133,289 (GRCm39) |
Y286N |
probably damaging |
Het |
| Gtf3c1 |
C |
A |
7: 125,292,310 (GRCm39) |
|
probably null |
Het |
| Kcnc4 |
C |
T |
3: 107,355,534 (GRCm39) |
V305M |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,916,338 (GRCm39) |
F724L |
probably benign |
Het |
| Kpnb1 |
T |
C |
11: 97,069,136 (GRCm39) |
Y249C |
probably damaging |
Het |
| Krt6b |
T |
C |
15: 101,586,809 (GRCm39) |
T269A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,097,380 (GRCm39) |
K1555E |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,755,650 (GRCm39) |
Y104C |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,567,679 (GRCm39) |
T1681A |
unknown |
Het |
| Mettl17 |
T |
C |
14: 52,128,160 (GRCm39) |
L272P |
probably benign |
Het |
| Mmp19 |
C |
A |
10: 128,634,047 (GRCm39) |
T316K |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,854,078 (GRCm39) |
G774E |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,096,325 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
C |
A |
5: 125,104,202 (GRCm39) |
E963* |
probably null |
Het |
| Nol6 |
T |
A |
4: 41,123,596 (GRCm39) |
T51S |
probably benign |
Het |
| Nsun3 |
A |
T |
16: 62,555,732 (GRCm39) |
C265S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,623,517 (GRCm39) |
N71K |
probably damaging |
Het |
| Or10a5 |
T |
G |
7: 106,635,356 (GRCm39) |
L5R |
probably benign |
Het |
| Or5p73 |
C |
T |
7: 108,065,167 (GRCm39) |
T212I |
probably benign |
Het |
| Orc3 |
T |
A |
4: 34,607,228 (GRCm39) |
E34V |
possibly damaging |
Het |
| Pcdhb13 |
T |
A |
18: 37,575,889 (GRCm39) |
L89Q |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,502,616 (GRCm39) |
V1241E |
probably null |
Het |
| Prpf39 |
C |
T |
12: 65,100,088 (GRCm39) |
P135S |
probably damaging |
Het |
| Psrc1 |
T |
C |
3: 108,292,309 (GRCm39) |
V34A |
probably benign |
Het |
| Rab27a |
G |
A |
9: 72,989,684 (GRCm39) |
V52M |
probably benign |
Het |
| Rassf9 |
A |
G |
10: 102,381,895 (GRCm39) |
T424A |
probably benign |
Het |
| Ripor3 |
G |
T |
2: 167,842,297 (GRCm39) |
R61S |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,466,867 (GRCm39) |
|
probably benign |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,516 (GRCm39) |
V1366M |
probably benign |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Tctn2 |
T |
C |
5: 124,745,826 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem45a |
A |
T |
16: 56,631,965 (GRCm39) |
F218I |
possibly damaging |
Het |
| Tpte |
A |
T |
8: 22,845,487 (GRCm39) |
R512S |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,020,585 (GRCm39) |
L22* |
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,783,916 (GRCm39) |
N1792D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,775,960 (GRCm39) |
M1694T |
probably damaging |
Het |
| Vmn1r181 |
T |
A |
7: 23,684,137 (GRCm39) |
W201R |
probably damaging |
Het |
| Wdr74 |
C |
T |
19: 8,715,592 (GRCm39) |
L198F |
possibly damaging |
Het |
| Zfp560 |
T |
C |
9: 20,260,086 (GRCm39) |
T259A |
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 |
|
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 |
|
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'- GGTGAGGACTTCAACAATGCTGCTG -3'
(R):5'- TGATGAGGGCAACACTGTGCTG -3'
Sequencing Primer
(F):5'- GCGCATCCTGCAACAGAG -3'
(R):5'- TGTGCTGCACTACACAGCC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation