Incidental Mutation 'IGL02221:Ngef'
ID |
285133 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ngef
|
Ensembl Gene |
ENSMUSG00000026259 |
Gene Name |
neuronal guanine nucleotide exchange factor |
Synonyms |
ephexin, Tims2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02221
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
87404556-87501592 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87468418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 114
(T114A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068681]
[ENSMUST00000166055]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068681
AA Change: T114A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000066894 Gene: ENSMUSG00000026259 AA Change: T114A
Domain | Start | End | E-Value | Type |
low complexity region
|
213 |
226 |
N/A |
INTRINSIC |
RhoGEF
|
277 |
456 |
8.16e-46 |
SMART |
PH
|
490 |
603 |
1.2e-7 |
SMART |
SH3
|
615 |
672 |
8.43e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166055
|
SMART Domains |
Protein: ENSMUSP00000132099 Gene: ENSMUSG00000079434
Domain | Start | End | E-Value | Type |
Pfam:BNR_2
|
32 |
110 |
8e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172004
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show no overt axonal phenotype; however, cultured retinal ganglion cells display defects in axonal outgrowth and ephrin-induced growth cone collapse. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
T |
C |
6: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
Cpped1 |
G |
T |
16: 11,646,392 (GRCm39) |
P144Q |
probably damaging |
Het |
Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
Hsd17b3 |
G |
T |
13: 64,236,865 (GRCm39) |
H26Q |
probably benign |
Het |
Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
Lin9 |
A |
T |
1: 180,478,399 (GRCm39) |
M53L |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
Tcf4 |
T |
A |
18: 69,480,438 (GRCm39) |
S23R |
probably damaging |
Het |
Ttc4 |
A |
G |
4: 106,533,793 (GRCm39) |
|
probably null |
Het |
Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
Yipf2 |
T |
C |
9: 21,502,764 (GRCm39) |
N106S |
possibly damaging |
Het |
Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
probably benign |
Het |
Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
Het |
|
Other mutations in Ngef |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02475:Ngef
|
APN |
1 |
87,406,872 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02478:Ngef
|
APN |
1 |
87,408,301 (GRCm39) |
splice site |
probably benign |
|
IGL03002:Ngef
|
APN |
1 |
87,437,114 (GRCm39) |
splice site |
probably null |
|
H8562:Ngef
|
UTSW |
1 |
87,415,529 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0078:Ngef
|
UTSW |
1 |
87,468,387 (GRCm39) |
missense |
probably benign |
0.12 |
R0145:Ngef
|
UTSW |
1 |
87,468,370 (GRCm39) |
intron |
probably benign |
|
R0193:Ngef
|
UTSW |
1 |
87,437,056 (GRCm39) |
missense |
probably benign |
0.03 |
R0244:Ngef
|
UTSW |
1 |
87,415,684 (GRCm39) |
unclassified |
probably benign |
|
R0486:Ngef
|
UTSW |
1 |
87,406,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Ngef
|
UTSW |
1 |
87,412,323 (GRCm39) |
missense |
probably benign |
|
R1824:Ngef
|
UTSW |
1 |
87,430,986 (GRCm39) |
critical splice donor site |
probably null |
|
R1994:Ngef
|
UTSW |
1 |
87,415,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Ngef
|
UTSW |
1 |
87,473,690 (GRCm39) |
missense |
probably benign |
0.43 |
R4059:Ngef
|
UTSW |
1 |
87,413,953 (GRCm39) |
missense |
probably damaging |
0.99 |
R4770:Ngef
|
UTSW |
1 |
87,405,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Ngef
|
UTSW |
1 |
87,431,070 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5197:Ngef
|
UTSW |
1 |
87,437,090 (GRCm39) |
nonsense |
probably null |
|
R5286:Ngef
|
UTSW |
1 |
87,473,552 (GRCm39) |
missense |
probably benign |
|
R5293:Ngef
|
UTSW |
1 |
87,431,151 (GRCm39) |
small deletion |
probably benign |
|
R6065:Ngef
|
UTSW |
1 |
87,405,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R6192:Ngef
|
UTSW |
1 |
87,415,622 (GRCm39) |
missense |
probably damaging |
0.98 |
R6925:Ngef
|
UTSW |
1 |
87,430,985 (GRCm39) |
splice site |
probably null |
|
R7176:Ngef
|
UTSW |
1 |
87,408,417 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7437:Ngef
|
UTSW |
1 |
87,408,327 (GRCm39) |
missense |
probably damaging |
0.98 |
R7760:Ngef
|
UTSW |
1 |
87,468,495 (GRCm39) |
missense |
probably benign |
0.00 |
R8058:Ngef
|
UTSW |
1 |
87,473,744 (GRCm39) |
nonsense |
probably null |
|
R8142:Ngef
|
UTSW |
1 |
87,468,463 (GRCm39) |
missense |
probably benign |
|
R8154:Ngef
|
UTSW |
1 |
87,468,482 (GRCm39) |
missense |
probably benign |
|
R8697:Ngef
|
UTSW |
1 |
87,417,459 (GRCm39) |
missense |
probably damaging |
0.99 |
R8769:Ngef
|
UTSW |
1 |
87,408,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R8784:Ngef
|
UTSW |
1 |
87,405,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R8790:Ngef
|
UTSW |
1 |
87,405,319 (GRCm39) |
missense |
probably benign |
0.10 |
R8907:Ngef
|
UTSW |
1 |
87,405,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R9047:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9050:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9169:Ngef
|
UTSW |
1 |
87,473,581 (GRCm39) |
missense |
probably benign |
0.43 |
R9198:Ngef
|
UTSW |
1 |
87,406,797 (GRCm39) |
missense |
unknown |
|
R9434:Ngef
|
UTSW |
1 |
87,408,315 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9466:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9650:Ngef
|
UTSW |
1 |
87,415,552 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9704:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9705:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9715:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9721:Ngef
|
UTSW |
1 |
87,406,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R9727:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9750:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
R9771:Ngef
|
UTSW |
1 |
87,431,010 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Ngef
|
UTSW |
1 |
87,410,431 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Posted On |
2015-04-16 |