Incidental Mutation 'PIT4468001:Mib1'
| ID |
555671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mib1
|
| Ensembl Gene |
ENSMUSG00000024294 |
| Gene Name |
MIB E3 ubiquitin protein ligase 1 |
| Synonyms |
skeletrophin, mindbomb, Mib, mind bomb-1, E430019M12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4468001 (G1)
|
| Quality Score |
133.008 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
10725548-10818704 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10798463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 775
(S775P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052838]
[ENSMUST00000165555]
|
| AlphaFold |
Q80SY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052838
AA Change: S775P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: S775P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIB_HERC2
|
15 |
72 |
5.6e-21 |
PFAM |
|
ZnF_ZZ
|
79 |
124 |
1.01e-10 |
SMART |
|
Pfam:MIB_HERC2
|
154 |
219 |
4.9e-31 |
PFAM |
|
ANK
|
430 |
460 |
1.63e3 |
SMART |
|
ANK
|
463 |
492 |
2.1e-3 |
SMART |
|
ANK
|
496 |
525 |
2.47e2 |
SMART |
|
ANK
|
529 |
558 |
6.02e-4 |
SMART |
|
ANK
|
562 |
591 |
1.14e-4 |
SMART |
|
ANK
|
595 |
626 |
6.26e-2 |
SMART |
|
ANK
|
631 |
661 |
1.24e-5 |
SMART |
|
ANK
|
665 |
694 |
9.27e-5 |
SMART |
|
ANK
|
698 |
729 |
1.04e2 |
SMART |
|
RING
|
819 |
853 |
1.8e-1 |
SMART |
|
RING
|
866 |
900 |
1.9e-1 |
SMART |
|
RING
|
963 |
995 |
4.58e-4 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000114289
Gene: ENSMUSG00000024294
AA Change: S409P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
65 |
95 |
1.63e3 |
SMART |
|
ANK
|
98 |
127 |
2.1e-3 |
SMART |
|
ANK
|
131 |
160 |
2.47e2 |
SMART |
|
ANK
|
164 |
193 |
6.02e-4 |
SMART |
|
ANK
|
197 |
226 |
1.14e-4 |
SMART |
|
ANK
|
230 |
261 |
6.26e-2 |
SMART |
|
ANK
|
266 |
296 |
1.24e-5 |
SMART |
|
ANK
|
300 |
329 |
9.27e-5 |
SMART |
|
ANK
|
333 |
364 |
1.04e2 |
SMART |
|
RING
|
454 |
488 |
1.8e-1 |
SMART |
|
RING
|
501 |
535 |
1.9e-1 |
SMART |
|
RING
|
598 |
630 |
4.58e-4 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122879
Gene: ENSMUSG00000024294
AA Change: S33P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
2 |
27 |
5e-6 |
BLAST |
|
RING
|
78 |
112 |
1.8e-1 |
SMART |
|
RING
|
125 |
159 |
1.9e-1 |
SMART |
|
RING
|
222 |
254 |
4.58e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165555
AA Change: S775P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: S775P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIB_HERC2
|
15 |
74 |
5.7e-25 |
PFAM |
|
ZnF_ZZ
|
79 |
124 |
1.01e-10 |
SMART |
|
Pfam:MIB_HERC2
|
154 |
221 |
5.5e-31 |
PFAM |
|
ANK
|
430 |
460 |
1.63e3 |
SMART |
|
ANK
|
463 |
492 |
2.1e-3 |
SMART |
|
ANK
|
496 |
525 |
2.47e2 |
SMART |
|
ANK
|
529 |
558 |
6.02e-4 |
SMART |
|
ANK
|
562 |
591 |
1.14e-4 |
SMART |
|
ANK
|
595 |
626 |
6.26e-2 |
SMART |
|
ANK
|
631 |
661 |
1.24e-5 |
SMART |
|
ANK
|
665 |
694 |
9.27e-5 |
SMART |
|
ANK
|
698 |
729 |
1.04e2 |
SMART |
|
RING
|
819 |
853 |
1.8e-1 |
SMART |
|
RING
|
866 |
900 |
1.9e-1 |
SMART |
|
RING
|
963 |
995 |
4.58e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.2%
- 20x: 72.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure of heart looping, impaired angiogenesis and arterial specification, premature neuronal precursor differentiation, posterior truncation, and abnormal somitogenesis with loss ofposterior markers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
C |
T |
14: 4,348,940 (GRCm38) |
L34F |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,601,701 (GRCm39) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,133,143 (GRCm39) |
Q350K |
probably damaging |
Het |
| Bbs1 |
T |
A |
19: 4,956,190 (GRCm39) |
H35L |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,876,008 (GRCm39) |
N468S |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,338 (GRCm39) |
I1050V |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,445,453 (GRCm39) |
D1709E |
probably benign |
Het |
| Clec9a |
G |
A |
6: 129,396,597 (GRCm39) |
|
probably null |
Het |
| Cyp2c70 |
T |
A |
19: 40,153,806 (GRCm39) |
D261V |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,475,301 (GRCm39) |
N420D |
possibly damaging |
Het |
| Dpys |
T |
A |
15: 39,720,601 (GRCm39) |
D53V |
probably damaging |
Het |
| Edem1 |
A |
G |
6: 108,821,828 (GRCm39) |
E295G |
probably damaging |
Het |
| Farp2 |
G |
T |
1: 93,456,499 (GRCm39) |
E61* |
probably null |
Het |
| Fat3 |
T |
G |
9: 15,907,647 (GRCm39) |
D2785A |
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,166,700 (GRCm39) |
M474K |
possibly damaging |
Het |
| Gm13090 |
C |
A |
4: 151,175,539 (GRCm39) |
P93Q |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,443,535 (GRCm39) |
R229* |
probably null |
Het |
| Gpr108 |
A |
T |
17: 57,554,563 (GRCm39) |
L25Q |
probably null |
Het |
| Hdac9 |
C |
A |
12: 34,145,933 (GRCm39) |
V920F |
unknown |
Het |
| Ighv13-2 |
T |
C |
12: 114,321,593 (GRCm39) |
S49G |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,602,352 (GRCm39) |
Y111C |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,300,876 (GRCm39) |
I1386T |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,294 (GRCm39) |
E352G |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,702,805 (GRCm39) |
M61T |
unknown |
Het |
| Ntn4 |
A |
G |
10: 93,480,587 (GRCm39) |
T104A |
probably damaging |
Het |
| Numb |
G |
A |
12: 83,854,921 (GRCm39) |
T135I |
probably damaging |
Het |
| Or4b12 |
C |
A |
2: 90,096,564 (GRCm39) |
C70F |
probably benign |
Het |
| Or52ab4 |
A |
C |
7: 102,987,807 (GRCm39) |
E182A |
probably damaging |
Het |
| Or5m5 |
A |
T |
2: 85,814,792 (GRCm39) |
T203S |
probably benign |
Het |
| Parpbp |
A |
C |
10: 87,979,935 (GRCm39) |
L7R |
probably benign |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,686 (GRCm39) |
Y455H |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,880,936 (GRCm39) |
D232E |
probably damaging |
Het |
| Pcdhga9 |
T |
A |
18: 37,872,527 (GRCm39) |
C785* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,391,131 (GRCm39) |
Y1913C |
possibly damaging |
Het |
| Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,805,136 (GRCm39) |
I350N |
probably benign |
Het |
| Rc3h2 |
C |
A |
2: 37,289,651 (GRCm39) |
G387V |
probably damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,009,352 (GRCm39) |
H408R |
probably benign |
Het |
| Rpl3l |
A |
G |
17: 24,954,457 (GRCm39) |
T173A |
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,777 (GRCm39) |
D416G |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,142,053 (GRCm39) |
T430K |
probably benign |
Het |
| Steap1 |
C |
A |
5: 5,786,642 (GRCm39) |
G265V |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,922,720 (GRCm39) |
I670N |
probably benign |
Het |
| Tcf7l2 |
A |
T |
19: 55,730,820 (GRCm39) |
D16V |
probably damaging |
Het |
| Tmem100 |
T |
A |
11: 89,926,187 (GRCm39) |
S5T |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,282,398 (GRCm39) |
S436P |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,122,771 (GRCm39) |
Y40H |
possibly damaging |
Het |
| Ubxn8 |
T |
A |
8: 34,111,569 (GRCm39) |
S275C |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Upk3b |
C |
T |
5: 136,071,861 (GRCm39) |
T222M |
probably benign |
Het |
| Usp42 |
T |
A |
5: 143,700,399 (GRCm39) |
K1208M |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,557 (GRCm39) |
D341E |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,313,884 (GRCm39) |
L164R |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,420,501 (GRCm39) |
R1734L |
probably damaging |
Het |
| Zfand2b |
G |
T |
1: 75,146,476 (GRCm39) |
R117L |
probably benign |
Het |
|
| Other mutations in Mib1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Mib1
|
APN |
18 |
10,798,490 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02300:Mib1
|
APN |
18 |
10,741,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02701:Mib1
|
APN |
18 |
10,747,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02731:Mib1
|
APN |
18 |
10,800,115 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03002:Mib1
|
APN |
18 |
10,798,356 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03083:Mib1
|
APN |
18 |
10,752,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4466001:Mib1
|
UTSW |
18 |
10,775,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0496:Mib1
|
UTSW |
18 |
10,804,773 (GRCm39) |
missense |
probably benign |
|
|
R1015:Mib1
|
UTSW |
18 |
10,726,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1237:Mib1
|
UTSW |
18 |
10,768,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Mib1
|
UTSW |
18 |
10,798,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Mib1
|
UTSW |
18 |
10,740,972 (GRCm39) |
splice site |
probably null |
|
|
R1952:Mib1
|
UTSW |
18 |
10,812,077 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1982:Mib1
|
UTSW |
18 |
10,812,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2009:Mib1
|
UTSW |
18 |
10,812,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2372:Mib1
|
UTSW |
18 |
10,812,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Mib1
|
UTSW |
18 |
10,751,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2922:Mib1
|
UTSW |
18 |
10,760,831 (GRCm39) |
nonsense |
probably null |
|
|
R2923:Mib1
|
UTSW |
18 |
10,760,831 (GRCm39) |
nonsense |
probably null |
|
|
R2938:Mib1
|
UTSW |
18 |
10,752,033 (GRCm39) |
splice site |
probably benign |
|
|
R3814:Mib1
|
UTSW |
18 |
10,763,281 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3858:Mib1
|
UTSW |
18 |
10,798,409 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4356:Mib1
|
UTSW |
18 |
10,751,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4357:Mib1
|
UTSW |
18 |
10,751,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4358:Mib1
|
UTSW |
18 |
10,751,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4406:Mib1
|
UTSW |
18 |
10,763,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Mib1
|
UTSW |
18 |
10,811,985 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4593:Mib1
|
UTSW |
18 |
10,768,191 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4623:Mib1
|
UTSW |
18 |
10,808,086 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Mib1
|
UTSW |
18 |
10,793,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5069:Mib1
|
UTSW |
18 |
10,793,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5070:Mib1
|
UTSW |
18 |
10,793,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5258:Mib1
|
UTSW |
18 |
10,795,856 (GRCm39) |
splice site |
probably null |
|
|
R5322:Mib1
|
UTSW |
18 |
10,792,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Mib1
|
UTSW |
18 |
10,794,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5622:Mib1
|
UTSW |
18 |
10,794,503 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6401:Mib1
|
UTSW |
18 |
10,795,802 (GRCm39) |
missense |
probably benign |
|
|
R6928:Mib1
|
UTSW |
18 |
10,802,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7242:Mib1
|
UTSW |
18 |
10,741,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Mib1
|
UTSW |
18 |
10,798,446 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7912:Mib1
|
UTSW |
18 |
10,778,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Mib1
|
UTSW |
18 |
10,741,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8276:Mib1
|
UTSW |
18 |
10,751,880 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8338:Mib1
|
UTSW |
18 |
10,726,372 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8375:Mib1
|
UTSW |
18 |
10,768,233 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8777:Mib1
|
UTSW |
18 |
10,747,422 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8777-TAIL:Mib1
|
UTSW |
18 |
10,747,422 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8811:Mib1
|
UTSW |
18 |
10,755,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9057:Mib1
|
UTSW |
18 |
10,795,728 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9117:Mib1
|
UTSW |
18 |
10,793,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9170:Mib1
|
UTSW |
18 |
10,726,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9252:Mib1
|
UTSW |
18 |
10,800,088 (GRCm39) |
missense |
probably benign |
|
|
R9256:Mib1
|
UTSW |
18 |
10,760,862 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9323:Mib1
|
UTSW |
18 |
10,775,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Mib1
|
UTSW |
18 |
10,812,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Mib1
|
UTSW |
18 |
10,775,701 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9701:Mib1
|
UTSW |
18 |
10,798,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Mib1
|
UTSW |
18 |
10,798,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mib1
|
UTSW |
18 |
10,763,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATACACACGGCAGATTTCTG -3'
(R):5'- CACATGACATAGAGGAAAGGTTTC -3'
Sequencing Primer
(F):5'- CATACACACGGCAGATTTCTGTAAGG -3'
(R):5'- GGCAACACTTTAACACTTTACAGTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation