Incidental Mutation 'IGL01389:Numbl'
| ID |
79153 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Numbl
|
| Ensembl Gene |
ENSMUSG00000063160 |
| Gene Name |
numb-like |
| Synonyms |
nbl |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26957884-26981570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26980472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 485
(F485V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079258]
|
| AlphaFold |
O08919 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079258
AA Change: F485V
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: F485V
| Domain | Start | End | E-Value | Type |
|---|
|
PTB
|
75 |
205 |
1.11e-38 |
SMART |
|
low complexity region
|
234 |
260 |
N/A |
INTRINSIC |
|
Pfam:NumbF
|
287 |
371 |
3.5e-32 |
PFAM |
|
coiled coil region
|
417 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
574 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149805
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypes except for a reduction in female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc163 |
T |
C |
4: 116,568,503 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
T |
G |
7: 17,481,300 (GRCm39) |
V349G |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,656,197 (GRCm39) |
D169E |
probably benign |
Het |
| Cfh |
G |
T |
1: 140,082,377 (GRCm39) |
T150K |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,559,975 (GRCm39) |
M859V |
possibly damaging |
Het |
| Clca3a2 |
C |
T |
3: 144,783,629 (GRCm39) |
|
probably null |
Het |
| Crocc |
T |
C |
4: 140,749,423 (GRCm39) |
E1536G |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,588,652 (GRCm39) |
V67A |
probably benign |
Het |
| Dock11 |
T |
C |
X: 35,256,701 (GRCm39) |
V576A |
probably benign |
Het |
| Ighv1-85 |
A |
G |
12: 115,963,671 (GRCm39) |
S110P |
probably damaging |
Het |
| Lyg1 |
G |
A |
1: 37,989,011 (GRCm39) |
P70S |
probably damaging |
Het |
| Or4x6 |
A |
T |
2: 89,949,412 (GRCm39) |
C177S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,764,535 (GRCm39) |
E1051G |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,374,712 (GRCm39) |
S1808G |
possibly damaging |
Het |
| Rad51b |
T |
A |
12: 79,349,327 (GRCm39) |
H54Q |
probably benign |
Het |
| Rbbp7 |
T |
C |
X: 161,552,939 (GRCm39) |
|
probably benign |
Het |
| Rhbdl2 |
G |
T |
4: 123,723,450 (GRCm39) |
V285L |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,461,131 (GRCm39) |
M311K |
probably damaging |
Het |
| Slc22a21 |
A |
G |
11: 53,870,407 (GRCm39) |
S93P |
probably damaging |
Het |
| Stt3b |
T |
C |
9: 115,082,968 (GRCm39) |
E488G |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,470,866 (GRCm39) |
H114R |
possibly damaging |
Het |
| Tcaim |
A |
G |
9: 122,643,627 (GRCm39) |
E109G |
possibly damaging |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,659 (GRCm39) |
T184A |
probably damaging |
Het |
| Vmn2r2 |
G |
T |
3: 64,024,430 (GRCm39) |
T717N |
probably damaging |
Het |
| Vps25 |
C |
T |
11: 101,144,861 (GRCm39) |
Q20* |
probably null |
Het |
| Xiap |
T |
C |
X: 41,183,429 (GRCm39) |
F52L |
probably damaging |
Het |
|
| Other mutations in Numbl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Numbl
|
APN |
7 |
26,968,235 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02671:Numbl
|
APN |
7 |
26,964,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Numbl
|
UTSW |
7 |
26,979,027 (GRCm39) |
missense |
probably benign |
|
|
R0212:Numbl
|
UTSW |
7 |
26,980,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0709:Numbl
|
UTSW |
7 |
26,973,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Numbl
|
UTSW |
7 |
26,980,379 (GRCm39) |
missense |
probably benign |
|
|
R2181:Numbl
|
UTSW |
7 |
26,968,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5071:Numbl
|
UTSW |
7 |
26,980,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Numbl
|
UTSW |
7 |
26,980,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Numbl
|
UTSW |
7 |
26,980,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6134:Numbl
|
UTSW |
7 |
26,980,739 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6387:Numbl
|
UTSW |
7 |
26,976,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6989:Numbl
|
UTSW |
7 |
26,980,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Numbl
|
UTSW |
7 |
26,971,412 (GRCm39) |
splice site |
probably null |
|
|
R8093:Numbl
|
UTSW |
7 |
26,980,461 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8518:Numbl
|
UTSW |
7 |
26,964,361 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9449:Numbl
|
UTSW |
7 |
26,976,327 (GRCm39) |
missense |
|
|
|
V7580:Numbl
|
UTSW |
7 |
26,979,027 (GRCm39) |
missense |
probably benign |
|
|
V7583:Numbl
|
UTSW |
7 |
26,979,027 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation