Incidental Mutation 'R6384:Numb'
| ID |
515514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Numb
|
| Ensembl Gene |
ENSMUSG00000021224 |
| Gene Name |
NUMB endocytic adaptor protein |
| Synonyms |
m-numb |
| MMRRC Submission |
044533-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83840808-83968708 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83850748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 154
(L154R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021647]
[ENSMUST00000085215]
[ENSMUST00000110298]
[ENSMUST00000117217]
[ENSMUST00000129335]
[ENSMUST00000135962]
[ENSMUST00000136848]
[ENSMUST00000155112]
[ENSMUST00000154043]
|
| AlphaFold |
Q9QZS3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021647
AA Change: L154R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021647
Gene: ENSMUSG00000021224
AA Change: L154R
| 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 damaging
Transcript: ENSMUST00000085215
AA Change: L154R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082311
Gene: ENSMUSG00000021224
AA Change: L154R
| 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: L143R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113591
Gene: ENSMUSG00000021224
AA Change: L143R
| 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 damaging
Transcript: ENSMUST00000129335
AA Change: L154R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119303
Gene: ENSMUSG00000021224
AA Change: L154R
| 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 |
probably benign
Transcript: ENSMUST00000135962
|
| SMART Domains |
Protein: ENSMUSP00000122977
Gene: ENSMUSG00000021224
| 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: 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155112
AA Change: L154R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116863
Gene: ENSMUSG00000021224
AA Change: L154R
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
34 |
163 |
5.63e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154043
AA Change: L143R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117899
Gene: ENSMUSG00000021224
AA Change: L143R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,790,066 (GRCm39) |
T97S |
probably benign |
Het |
| Adam34 |
T |
A |
8: 44,103,836 (GRCm39) |
D603V |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,659,716 (GRCm39) |
V859I |
probably benign |
Het |
| Alb |
T |
A |
5: 90,620,499 (GRCm39) |
D536E |
possibly damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,860 (GRCm39) |
Y82C |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,233,744 (GRCm39) |
|
probably null |
Het |
| Bach1 |
C |
T |
16: 87,516,745 (GRCm39) |
Q429* |
probably null |
Het |
| Bcl6 |
A |
G |
16: 23,793,615 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,834,451 (GRCm39) |
V338A |
probably benign |
Het |
| Cdca3 |
C |
T |
6: 124,809,382 (GRCm39) |
P174L |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,047,827 (GRCm39) |
L25P |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,581,351 (GRCm39) |
|
probably null |
Het |
| Cyp2c38 |
A |
T |
19: 39,380,737 (GRCm39) |
|
probably null |
Het |
| Ednra |
T |
C |
8: 78,415,723 (GRCm39) |
N175D |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,797,660 (GRCm39) |
Y337C |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,122,554 (GRCm39) |
|
probably null |
Het |
| F11r |
A |
G |
1: 171,288,508 (GRCm39) |
N117S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,947 (GRCm39) |
T716I |
probably damaging |
Het |
| Gnaq |
A |
G |
19: 16,293,377 (GRCm39) |
|
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpr158 |
T |
C |
2: 21,831,099 (GRCm39) |
M733T |
probably damaging |
Het |
| Hdac7 |
G |
A |
15: 97,709,387 (GRCm39) |
Q48* |
probably null |
Het |
| Hmga2 |
G |
A |
10: 120,206,612 (GRCm39) |
|
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,132,886 (GRCm39) |
V142A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,078,644 (GRCm39) |
N334D |
probably damaging |
Het |
| Lrrc47 |
T |
C |
4: 154,100,317 (GRCm39) |
S298P |
probably benign |
Het |
| Map3k1 |
A |
T |
13: 111,887,064 (GRCm39) |
S1415R |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,670,607 (GRCm39) |
L424Q |
probably damaging |
Het |
| Or8g27 |
T |
C |
9: 39,129,274 (GRCm39) |
V207A |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,381 (GRCm39) |
K193E |
probably benign |
Het |
| Pdcd5 |
G |
T |
7: 35,346,334 (GRCm39) |
A92E |
possibly damaging |
Het |
| Pdcl2 |
C |
T |
5: 76,478,855 (GRCm39) |
|
probably null |
Het |
| Rbfa |
T |
C |
18: 80,235,996 (GRCm39) |
Y251C |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,703,291 (GRCm39) |
T120I |
possibly damaging |
Het |
| Serpina3g |
A |
G |
12: 104,206,655 (GRCm39) |
Q152R |
probably null |
Het |
| Setx |
T |
C |
2: 29,063,570 (GRCm39) |
S2289P |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,907,017 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
C |
T |
6: 142,055,105 (GRCm39) |
D280N |
probably benign |
Het |
| Syde2 |
T |
A |
3: 145,704,568 (GRCm39) |
Y240N |
probably damaging |
Het |
| Synpo2 |
G |
A |
3: 122,906,698 (GRCm39) |
Q873* |
probably null |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Ttc16 |
C |
T |
2: 32,657,561 (GRCm39) |
A512T |
probably damaging |
Het |
| Tubb5 |
T |
C |
17: 36,148,938 (GRCm39) |
E3G |
probably damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,824,136 (GRCm39) |
Y464H |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,684,847 (GRCm39) |
H305L |
probably damaging |
Het |
| Yars1 |
T |
G |
4: 129,090,771 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Numb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Numb
|
APN |
12 |
83,854,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCTTGCAACTGTTTCATGATC -3'
(R):5'- CTGTATTCACGTGCACAAGAAAAC -3'
Sequencing Primer
(F):5'- GCAACTGTTTCATGATCTCCTC -3'
(R):5'- CACGCGCGTGTACACAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation