Incidental Mutation 'R7437:Ngef'
| ID |
576651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngef
|
| Ensembl Gene |
ENSMUSG00000026259 |
| Gene Name |
neuronal guanine nucleotide exchange factor |
| Synonyms |
ephexin, Tims2 |
| MMRRC Submission |
045513-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87404556-87501592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87408327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 580
(M580K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027477]
[ENSMUST00000068681]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027477
AA Change: M490K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: M490K
| 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 damaging
Transcript: ENSMUST00000068681
AA Change: M580K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: M580K
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000127674
Gene: ENSMUSG00000026259
AA Change: M163K
| 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 |
|
| Meta Mutation Damage Score |
0.4233 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
T |
17: 24,619,472 (GRCm39) |
I1192F |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,941,790 (GRCm39) |
S1160P |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,979,721 (GRCm39) |
I297V |
probably damaging |
Het |
| Aebp1 |
T |
A |
11: 5,819,757 (GRCm39) |
F687L |
possibly damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,314,930 (GRCm39) |
T28A |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,842,618 (GRCm39) |
K412N |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 69,978,396 (GRCm39) |
I123V |
probably benign |
Het |
| Atp10a |
G |
A |
7: 58,308,288 (GRCm39) |
R29H |
unknown |
Het |
| C4b |
T |
C |
17: 34,953,707 (GRCm39) |
D967G |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,795,429 (GRCm39) |
N416S |
probably damaging |
Het |
| Ccna2 |
T |
C |
3: 36,625,239 (GRCm39) |
|
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,173,582 (GRCm39) |
L371P |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,230,753 (GRCm39) |
C958* |
probably null |
Het |
| Crlf2 |
T |
C |
5: 109,702,839 (GRCm39) |
D318G |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,658,072 (GRCm39) |
N14D |
probably benign |
Het |
| Dars1 |
A |
G |
1: 128,299,941 (GRCm39) |
Y348H |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,389,453 (GRCm39) |
E813G |
probably damaging |
Het |
| Ebi3 |
T |
A |
17: 56,261,410 (GRCm39) |
M102K |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,066,493 (GRCm39) |
D2131G |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,840,775 (GRCm39) |
L1823H |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,583,569 (GRCm39) |
M309T |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,273,067 (GRCm39) |
S470P |
possibly damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,184,417 (GRCm39) |
|
probably null |
Het |
| Kif24 |
T |
C |
4: 41,404,687 (GRCm39) |
T438A |
possibly damaging |
Het |
| Kndc1 |
G |
A |
7: 139,488,959 (GRCm39) |
G205R |
probably damaging |
Het |
| Lrp1b |
G |
T |
2: 40,712,658 (GRCm39) |
D3225E |
|
Het |
| Lrp1b |
A |
T |
2: 40,712,657 (GRCm39) |
Y3226N |
|
Het |
| Megf10 |
G |
C |
18: 57,395,203 (GRCm39) |
G522R |
probably damaging |
Het |
| Nectin2 |
A |
T |
7: 19,483,193 (GRCm39) |
L12* |
probably null |
Het |
| Oga |
A |
T |
19: 45,767,046 (GRCm39) |
M110K |
possibly damaging |
Het |
| Or10ag56 |
A |
G |
2: 87,139,687 (GRCm39) |
M205V |
probably benign |
Het |
| Or1e1c |
A |
G |
11: 73,265,844 (GRCm39) |
S93G |
probably benign |
Het |
| Or5an1b |
T |
C |
19: 12,299,472 (GRCm39) |
N240D |
probably damaging |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,728 (GRCm39) |
L702P |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,145 (GRCm39) |
I312V |
probably benign |
Het |
| Pglyrp3 |
A |
G |
3: 91,937,985 (GRCm39) |
N265D |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,757,421 (GRCm39) |
V1539A |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,981,053 (GRCm39) |
C194F |
possibly damaging |
Het |
| Rcn2 |
T |
C |
9: 55,965,353 (GRCm39) |
L274P |
probably damaging |
Het |
| Rpp30 |
A |
G |
19: 36,081,838 (GRCm39) |
E267G |
possibly damaging |
Het |
| Rundc3a |
A |
G |
11: 102,289,230 (GRCm39) |
M134V |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,146,004 (GRCm39) |
Q343L |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,199,444 (GRCm39) |
F359Y |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 95,110,994 (GRCm39) |
L604P |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,656,946 (GRCm39) |
H777Q |
probably damaging |
Het |
| Tap1 |
G |
A |
17: 34,409,616 (GRCm39) |
W284* |
probably null |
Het |
| Tlcd5 |
C |
T |
9: 43,023,080 (GRCm39) |
W91* |
probably null |
Het |
| Tmem181a |
A |
G |
17: 6,353,540 (GRCm39) |
D384G |
possibly damaging |
Het |
| Txndc12 |
T |
C |
4: 108,713,368 (GRCm39) |
S77P |
probably damaging |
Het |
| Wnt16 |
G |
A |
6: 22,288,560 (GRCm39) |
V19M |
probably benign |
Het |
| Zfp932 |
T |
A |
5: 110,157,880 (GRCm39) |
M526K |
probably benign |
Het |
| Zfp959 |
G |
T |
17: 56,205,334 (GRCm39) |
C457F |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,863 (GRCm39) |
S300P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGGTACAGCTATCCCGTG -3'
(R):5'- GTTCTCCTGAGACCAACACG -3'
Sequencing Primer
(F):5'- GGTACAGCTATCCCGTGCCATC -3'
(R):5'- TCCTGAGACCAACACGTCCAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation