Incidental Mutation 'IGL03002:Ngef'
| ID |
407409 |
| 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 # |
IGL03002
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87404556-87501592 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 87437114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027477]
[ENSMUST00000068681]
[ENSMUST00000166055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027477
|
| SMART Domains |
Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
RhoGEF
|
187 |
366 |
8.16e-46 |
SMART |
|
PH
|
400 |
513 |
1.2e-7 |
SMART |
|
SH3
|
525 |
582 |
8.43e-15 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000068681
|
| SMART Domains |
Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
| 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: ENSMUST00000168856
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
T |
C |
1: 66,876,128 (GRCm39) |
I398V |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
| C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
| Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
| Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
| Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
| Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
| Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
| Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
| Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
| Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
| Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
| Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
| Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
| Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
| Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
| Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
| Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
probably damaging |
Het |
|
| Other mutations in Ngef |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02221:Ngef
|
APN |
1 |
87,468,418 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation