Incidental Mutation 'IGL00335:Numb'
| ID |
4391 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Numb
|
| Ensembl Gene |
ENSMUSG00000021224 |
| Gene Name |
NUMB endocytic adaptor protein |
| Synonyms |
m-numb |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83840808-83968708 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83854906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 129
(I129T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021647]
[ENSMUST00000085215]
[ENSMUST00000110298]
[ENSMUST00000117217]
[ENSMUST00000126943]
[ENSMUST00000129335]
[ENSMUST00000135962]
[ENSMUST00000155112]
[ENSMUST00000154043]
[ENSMUST00000136848]
|
| AlphaFold |
Q9QZS3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021647
AA Change: I140T
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021647
Gene: ENSMUSG00000021224
AA Change: I140T
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
34 |
175 |
2.19e-37 |
SMART |
|
low complexity region
|
231 |
253 |
N/A |
INTRINSIC |
|
Pfam:NumbF
|
257 |
339 |
4.7e-42 |
PFAM |
|
low complexity region
|
413 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085215
AA Change: I140T
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082311
Gene: ENSMUSG00000021224
AA Change: I140T
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
34 |
175 |
2.19e-37 |
SMART |
|
low complexity region
|
231 |
253 |
N/A |
INTRINSIC |
|
Pfam:NumbF
|
257 |
322 |
5.6e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110298
|
| SMART Domains |
Protein: ENSMUSP00000105927
Gene: ENSMUSG00000021224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID
|
39 |
76 |
2.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117217
AA Change: I129T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113591
Gene: ENSMUSG00000021224
AA Change: I129T
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
34 |
164 |
3.62e-38 |
SMART |
|
low complexity region
|
220 |
242 |
N/A |
INTRINSIC |
|
Pfam:NumbF
|
246 |
328 |
4.5e-42 |
PFAM |
|
low complexity region
|
402 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126943
|
| SMART Domains |
Protein: ENSMUSP00000122960
Gene: ENSMUSG00000021224
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1WJ1|A
|
21 |
65 |
3e-21 |
PDB |
|
SCOP:d1ddma_
|
23 |
65 |
6e-6 |
SMART |
|
Blast:PTB
|
34 |
65 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129335
AA Change: I140T
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000119303
Gene: ENSMUSG00000021224
AA Change: I140T
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
34 |
175 |
2.19e-37 |
SMART |
|
low complexity region
|
231 |
253 |
N/A |
INTRINSIC |
|
Pfam:NumbF
|
258 |
338 |
9.9e-32 |
PFAM |
|
low complexity region
|
462 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
502 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135962
AA Change: I140T
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122977
Gene: ENSMUSG00000021224
AA Change: I140T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
38 |
147 |
9.3e-8 |
PFAM |
|
Pfam:PID
|
39 |
148 |
4.7e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155112
AA Change: I140T
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116863
Gene: ENSMUSG00000021224
AA Change: I140T
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
34 |
163 |
5.63e-26 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154043
AA Change: I129T
PolyPhen 2
Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117899
Gene: ENSMUSG00000021224
AA Change: I129T
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
34 |
164 |
3.62e-38 |
SMART |
|
low complexity region
|
220 |
242 |
N/A |
INTRINSIC |
|
Pfam:NumbF
|
246 |
328 |
5.1e-42 |
PFAM |
|
low complexity region
|
451 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136848
|
| SMART Domains |
Protein: ENSMUSP00000122597
Gene: ENSMUSG00000021224
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
38 |
112 |
2.4e-8 |
PFAM |
|
Pfam:PID
|
39 |
113 |
2.5e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a conserved protein that is distributed asymmetrically during cell division in the developing embryo. The encoded protein participates in cell fate decisions by interacting with the Notch receptor. Loss of function of this gene results in severe defects in neural development and loss of viability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null allele die at ~E11.5 with neural tube closure defects and precocious cortical neurogenesis. Mice homozygous for another null allele show impaired axial rotation, neural tube closure, angiogenic remodeling, placenta formation, and motor and sensory neuron differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700048O20Rik |
C |
A |
9: 121,769,833 (GRCm39) |
|
noncoding transcript |
Het |
| 4930579F01Rik |
C |
A |
3: 137,891,959 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Bace1 |
T |
C |
9: 45,750,588 (GRCm39) |
|
probably null |
Het |
| Chrne |
C |
T |
11: 70,506,588 (GRCm39) |
V311I |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,156,020 (GRCm39) |
V177M |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,328 (GRCm39) |
E365G |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,785,560 (GRCm39) |
N332K |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,416,810 (GRCm39) |
V402A |
probably benign |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,582,645 (GRCm39) |
|
probably benign |
Het |
| Lhfpl7 |
A |
G |
5: 113,383,869 (GRCm39) |
R96G |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,628,365 (GRCm39) |
I237T |
probably damaging |
Het |
| Mepe |
G |
T |
5: 104,485,843 (GRCm39) |
G328C |
probably damaging |
Het |
| Or5h25 |
T |
C |
16: 58,930,961 (GRCm39) |
D4G |
probably benign |
Het |
| Or6c209 |
T |
C |
10: 129,483,306 (GRCm39) |
I103T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,866,504 (GRCm39) |
D390G |
probably benign |
Het |
| Pglyrp3 |
G |
A |
3: 91,929,986 (GRCm39) |
V51I |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,121,279 (GRCm39) |
T470A |
probably damaging |
Het |
| Psmg1 |
G |
A |
16: 95,781,268 (GRCm39) |
T259I |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,882,543 (GRCm39) |
T240A |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,824,385 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
A |
G |
5: 103,756,991 (GRCm39) |
S258P |
probably benign |
Het |
| Slc1a6 |
T |
C |
10: 78,637,647 (GRCm39) |
L391P |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,681 (GRCm39) |
V465M |
possibly damaging |
Het |
| Sost |
T |
C |
11: 101,857,705 (GRCm39) |
D32G |
probably damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,282 (GRCm39) |
S54P |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,003 (GRCm39) |
S598T |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,809 (GRCm39) |
I890N |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,593 (GRCm39) |
D485G |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,438,995 (GRCm39) |
I373F |
probably damaging |
Het |
| Xkr6 |
A |
G |
14: 64,056,664 (GRCm39) |
T192A |
probably damaging |
Het |
| Zfp638 |
A |
G |
6: 83,956,700 (GRCm39) |
D1769G |
probably damaging |
Het |
|
| Other mutations in Numb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01979:Numb
|
APN |
12 |
83,889,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02318:Numb
|
APN |
12 |
83,878,692 (GRCm39) |
splice site |
probably null |
|
|
IGL02716:Numb
|
APN |
12 |
83,847,982 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03206:Numb
|
APN |
12 |
83,872,070 (GRCm39) |
splice site |
probably benign |
|
|
PIT4468001:Numb
|
UTSW |
12 |
83,854,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0086:Numb
|
UTSW |
12 |
83,842,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Numb
|
UTSW |
12 |
83,842,614 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0652:Numb
|
UTSW |
12 |
83,842,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1201:Numb
|
UTSW |
12 |
83,848,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1295:Numb
|
UTSW |
12 |
83,842,935 (GRCm39) |
splice site |
probably benign |
|
|
R1433:Numb
|
UTSW |
12 |
83,844,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1489:Numb
|
UTSW |
12 |
83,842,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Numb
|
UTSW |
12 |
83,847,784 (GRCm39) |
splice site |
probably null |
|
|
R1980:Numb
|
UTSW |
12 |
83,844,118 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3771:Numb
|
UTSW |
12 |
83,846,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5382:Numb
|
UTSW |
12 |
83,854,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5818:Numb
|
UTSW |
12 |
83,872,028 (GRCm39) |
splice site |
probably null |
|
|
R5846:Numb
|
UTSW |
12 |
83,923,521 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6360:Numb
|
UTSW |
12 |
83,844,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6384:Numb
|
UTSW |
12 |
83,850,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Numb
|
UTSW |
12 |
83,842,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Numb
|
UTSW |
12 |
83,850,578 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7749:Numb
|
UTSW |
12 |
83,848,051 (GRCm39) |
missense |
not run |
|
|
R8342:Numb
|
UTSW |
12 |
83,854,990 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8370:Numb
|
UTSW |
12 |
83,854,974 (GRCm39) |
nonsense |
probably null |
|
|
R9448:Numb
|
UTSW |
12 |
83,888,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation