Incidental Mutation 'IGL02671:Numbl'
| ID |
302931 |
| 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 # |
IGL02671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26957884-26981570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26964327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 46
(R46W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078245
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079258]
|
| AlphaFold |
O08919 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079258
AA Change: R46W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: R46W
| 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: ENSMUST00000132897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152342
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,887 (GRCm39) |
H60Q |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Angpt1 |
C |
T |
15: 42,539,790 (GRCm39) |
R23H |
possibly damaging |
Het |
| Cadps |
T |
A |
14: 12,491,824 (GRCm38) |
E775D |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,889,387 (GRCm39) |
M211K |
probably benign |
Het |
| Cfap410 |
A |
T |
10: 77,816,384 (GRCm39) |
|
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,445,245 (GRCm39) |
M77V |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,912 (GRCm39) |
|
probably null |
Het |
| Eef1d |
A |
G |
15: 75,767,654 (GRCm39) |
I240T |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,876,475 (GRCm39) |
F2403I |
possibly damaging |
Het |
| Ighv1-47 |
C |
T |
12: 114,955,018 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,459 (GRCm39) |
L1159P |
probably damaging |
Het |
| Kif12 |
T |
C |
4: 63,088,694 (GRCm39) |
E202G |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,015,372 (GRCm39) |
D315G |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,048,331 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
T |
4: 81,208,510 (GRCm39) |
D1778E |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,257 (GRCm39) |
Y252F |
probably damaging |
Het |
| Or6d13 |
C |
T |
6: 116,518,104 (GRCm39) |
T230I |
possibly damaging |
Het |
| Pde3b |
T |
C |
7: 114,122,580 (GRCm39) |
V716A |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,597,672 (GRCm39) |
Y771* |
probably null |
Het |
| Pramel5 |
A |
G |
4: 143,999,682 (GRCm39) |
V135A |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,336,302 (GRCm39) |
|
probably null |
Het |
| Taf2 |
C |
T |
15: 54,897,572 (GRCm39) |
V919I |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 72,016,999 (GRCm39) |
T36M |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,149 (GRCm39) |
D45V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,855,791 (GRCm39) |
T508A |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,089,181 (GRCm39) |
E569K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,937,719 (GRCm39) |
C875R |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,042,144 (GRCm39) |
N2208S |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 9,997,196 (GRCm39) |
V436A |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,296,437 (GRCm39) |
R1197* |
probably null |
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 |
|
IGL01389:Numbl
|
APN |
7 |
26,980,472 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2015-04-16 |
Incidental Mutation