Incidental Mutation 'R9705:Ngef'
| ID |
729732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ngef
|
| Ensembl Gene |
ENSMUSG00000026259 |
| Gene Name |
neuronal guanine nucleotide exchange factor |
| Synonyms |
ephexin, Tims2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87404556-87501592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87431010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 269
(P269L)
|
| 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: P179L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: P179L
| 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: P269L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: P269L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| 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 |
|---|
| A830018L16Rik |
C |
T |
1: 11,588,913 (GRCm39) |
P110L |
probably damaging |
Het |
| Aff1 |
T |
G |
5: 103,932,276 (GRCm39) |
L298R |
possibly damaging |
Het |
| B4galt1 |
T |
C |
4: 40,853,474 (GRCm39) |
K111R |
probably benign |
Het |
| Brap |
A |
G |
5: 121,801,373 (GRCm39) |
T87A |
probably benign |
Het |
| C1qtnf6 |
T |
A |
15: 78,411,493 (GRCm39) |
Q61L |
probably benign |
Het |
| Ccar2 |
C |
A |
14: 70,380,383 (GRCm39) |
C399F |
probably damaging |
Het |
| Cdh15 |
C |
A |
8: 123,591,024 (GRCm39) |
D424E |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,784,788 (GRCm39) |
V424I |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,465,313 (GRCm39) |
A954V |
unknown |
Het |
| Cul9 |
T |
G |
17: 46,854,226 (GRCm39) |
T159P |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,033,120 (GRCm39) |
E164G |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,094,770 (GRCm39) |
L766R |
probably damaging |
Het |
| Drd5 |
T |
C |
5: 38,478,027 (GRCm39) |
V340A |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,596,715 (GRCm39) |
E921K |
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,371,921 (GRCm39) |
R106K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,823,634 (GRCm39) |
T6456A |
probably benign |
Het |
| H2ac1 |
A |
G |
13: 24,118,728 (GRCm39) |
N95S |
probably benign |
Het |
| H2-M10.6 |
A |
G |
17: 37,123,642 (GRCm39) |
N112S |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Hoxc9 |
T |
A |
15: 102,890,362 (GRCm39) |
M93K |
possibly damaging |
Het |
| Hsd17b4 |
A |
C |
18: 50,324,791 (GRCm39) |
K668T |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,772,890 (GRCm39) |
V728A |
probably benign |
Het |
| Jph3 |
C |
T |
8: 122,508,913 (GRCm39) |
R392W |
probably damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,027,031 (GRCm39) |
E594G |
possibly damaging |
Het |
| Mrm2 |
G |
A |
5: 140,316,990 (GRCm39) |
R15W |
probably damaging |
Het |
| Neurl4 |
A |
T |
11: 69,799,679 (GRCm39) |
D994V |
probably damaging |
Het |
| Odam |
T |
A |
5: 88,037,228 (GRCm39) |
F141I |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,266,962 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,841 (GRCm39) |
L59Q |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 173,000,170 (GRCm39) |
S534T |
possibly damaging |
Het |
| Pgm3 |
A |
G |
9: 86,437,414 (GRCm39) |
F528L |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,099,815 (GRCm39) |
I1936N |
|
Het |
| Ptpn13 |
T |
C |
5: 103,681,221 (GRCm39) |
L807S |
possibly damaging |
Het |
| Ramp2 |
T |
A |
11: 101,137,369 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Rars2 |
A |
T |
4: 34,646,561 (GRCm39) |
K275N |
possibly damaging |
Het |
| Rusc2 |
A |
C |
4: 43,424,936 (GRCm39) |
N1131T |
probably benign |
Het |
| Snapc1 |
G |
T |
12: 74,015,150 (GRCm39) |
K161N |
probably damaging |
Het |
| Spag8 |
G |
A |
4: 43,652,366 (GRCm39) |
H325Y |
possibly damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,710,989 (GRCm39) |
V773M |
probably damaging |
Het |
| Syt3 |
A |
G |
7: 44,045,225 (GRCm39) |
D519G |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,361,018 (GRCm39) |
Y459C |
probably damaging |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,208 (GRCm39) |
S156G |
probably benign |
Het |
| Ubb |
A |
G |
11: 62,443,375 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,933,039 (GRCm39) |
I200V |
possibly damaging |
Het |
| Zfp27 |
C |
A |
7: 29,595,342 (GRCm39) |
V208F |
possibly 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 |
|
|
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 |
|
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'- GAATCAGCCCAGAAAGTGGC -3'
(R):5'- CTCTCCAAGAAATTGAAACACGGAG -3'
Sequencing Primer
(F):5'- CAGAAAGTGGCTGGGTGGTC -3'
(R):5'- AACTCCGATGGGTCCCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation