Incidental Mutation 'IGL02475:Ngef'
| ID |
294895 |
| 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 # |
IGL02475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
87404556-87501592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87406872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 632
(T632K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027476]
[ENSMUST00000027477]
[ENSMUST00000068681]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027476
|
| SMART Domains |
Protein: ENSMUSP00000027476
Gene: ENSMUSG00000026258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:DUF4690
|
26 |
121 |
7.6e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027477
AA Change: T542K
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: T542K
| 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 |
possibly damaging
Transcript: ENSMUST00000068681
AA Change: T632K
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: T632K
| 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 |
noncoding transcript
Transcript: ENSMUST00000166463
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168235
AA Change: T215K
|
| SMART Domains |
Protein: ENSMUSP00000127674
Gene: ENSMUSG00000026259
AA Change: T215K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RhoGEF
|
2 |
40 |
1e-16 |
BLAST |
|
PH
|
74 |
187 |
1.2e-7 |
SMART |
|
Blast:SH3
|
199 |
232 |
1e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191095
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,119,343 (GRCm39) |
|
probably benign |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,742 (GRCm39) |
E90G |
probably damaging |
Het |
| Abhd6 |
T |
A |
14: 8,039,849 (GRCm38) |
I27N |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,186,277 (GRCm39) |
E1230D |
probably benign |
Het |
| Bcl2l12 |
A |
G |
7: 44,646,317 (GRCm39) |
V31A |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,738,341 (GRCm39) |
R2501W |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,297,072 (GRCm39) |
|
probably null |
Het |
| Crcp |
T |
C |
5: 130,088,699 (GRCm39) |
|
probably benign |
Het |
| Creb5 |
G |
A |
6: 53,670,909 (GRCm39) |
S304N |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,219,296 (GRCm39) |
D38G |
probably benign |
Het |
| Fam171a1 |
A |
G |
2: 3,224,527 (GRCm39) |
I293V |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,748,561 (GRCm39) |
V396A |
possibly damaging |
Het |
| Gm10340 |
G |
A |
14: 14,832,274 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,544,310 (GRCm39) |
T344A |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,769,958 (GRCm39) |
F34S |
probably damaging |
Het |
| Musk |
T |
C |
4: 58,353,936 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,182,831 (GRCm39) |
N1038K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,426,493 (GRCm39) |
Y1636H |
probably damaging |
Het |
| Nme1nme2 |
A |
G |
11: 93,846,400 (GRCm39) |
V16A |
probably damaging |
Het |
| Nts |
A |
G |
10: 102,326,108 (GRCm39) |
|
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,509,743 (GRCm39) |
D697G |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,088 (GRCm39) |
H261Q |
probably benign |
Het |
| Or5m8 |
T |
C |
2: 85,822,376 (GRCm39) |
F72L |
probably benign |
Het |
| Or9i1 |
T |
A |
19: 13,839,663 (GRCm39) |
C169S |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,026 (GRCm39) |
R1428G |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,525,633 (GRCm39) |
S479P |
|
Het |
| Rnaseh2b |
T |
A |
14: 62,584,064 (GRCm39) |
F37I |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,801 (GRCm39) |
I1031N |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,151 (GRCm39) |
E344G |
probably benign |
Het |
| Scel |
A |
G |
14: 103,774,444 (GRCm39) |
R89G |
possibly damaging |
Het |
| Sirt4 |
T |
C |
5: 115,621,055 (GRCm39) |
E39G |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,331,334 (GRCm39) |
|
probably null |
Het |
| Snapc3 |
C |
A |
4: 83,368,333 (GRCm39) |
H277N |
probably benign |
Het |
| Susd2 |
A |
G |
10: 75,473,333 (GRCm39) |
|
probably null |
Het |
| Tagap1 |
T |
C |
17: 7,223,826 (GRCm39) |
Q290R |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,732,233 (GRCm39) |
|
probably benign |
Het |
| Tmem54 |
A |
T |
4: 129,002,073 (GRCm39) |
H40L |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,721 (GRCm39) |
S683P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,777,131 (GRCm39) |
D547G |
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,141,667 (GRCm39) |
V17M |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,861,942 (GRCm39) |
T208S |
probably benign |
Het |
| Ttc17 |
C |
A |
2: 94,194,721 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,471,302 (GRCm39) |
W222R |
probably damaging |
Het |
| Xkr8 |
A |
T |
4: 132,455,512 (GRCm39) |
I287N |
probably damaging |
Het |
| Zdhhc2 |
G |
T |
8: 40,926,066 (GRCm39) |
G354C |
probably null |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
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 |
|
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 |
Incidental Mutation