Incidental Mutation 'R9721:Ngef'
| ID |
730764 |
| 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 # |
R9721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87404556-87501592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87406857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 637
(D637V)
|
| 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 damaging
Transcript: ENSMUST00000027477
AA Change: D547V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027477
Gene: ENSMUSG00000026259
AA Change: D547V
| 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: D637V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066894
Gene: ENSMUSG00000026259
AA Change: D637V
| 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: D220V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,212,932 (GRCm39) |
Y120N |
probably benign |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,429,942 (GRCm39) |
V349D |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,087,911 (GRCm39) |
H131L |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,252,087 (GRCm39) |
E588G |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,733,441 (GRCm39) |
V654M |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,713,101 (GRCm39) |
L982P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,406,257 (GRCm39) |
V72E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,958,501 (GRCm39) |
T869A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,254,893 (GRCm39) |
T27A |
unknown |
Het |
| Ddx19a |
A |
G |
8: 111,705,107 (GRCm39) |
F338S |
probably damaging |
Het |
| Dhrs7c |
T |
A |
11: 67,705,904 (GRCm39) |
V219E |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,892,424 (GRCm39) |
V115A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,866 (GRCm39) |
D3153G |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,938 (GRCm39) |
S412T |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,076,740 (GRCm39) |
|
probably null |
Het |
| Ep300 |
A |
G |
15: 81,492,516 (GRCm39) |
N284S |
unknown |
Het |
| Fam83a |
A |
G |
15: 57,849,513 (GRCm39) |
N19S |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,965,278 (GRCm39) |
T504S |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,535,260 (GRCm39) |
|
probably null |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Gls |
A |
G |
1: 52,251,427 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,582 (GRCm39) |
C14* |
probably null |
Het |
| Gm9887 |
C |
G |
12: 69,418,629 (GRCm39) |
A202P |
unknown |
Het |
| Ifi214 |
T |
C |
1: 173,355,479 (GRCm39) |
T110A |
possibly damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,113 (GRCm39) |
R293G |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,383,063 (GRCm39) |
T1464S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,400 (GRCm39) |
S225P |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,330 (GRCm39) |
I678N |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,710,240 (GRCm39) |
D429E |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,939,948 (GRCm39) |
T1581A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,343,338 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,924,623 (GRCm39) |
I1319V |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 15,701,638 (GRCm39) |
T751I |
unknown |
Het |
| Matcap1 |
A |
T |
8: 106,009,820 (GRCm39) |
D376E |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,857,595 (GRCm39) |
L363P |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,436,738 (GRCm39) |
S535R |
possibly damaging |
Het |
| Nckap5 |
C |
T |
1: 125,955,017 (GRCm39) |
D512N |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,030,313 (GRCm39) |
Y391H |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,011,915 (GRCm39) |
V29F |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 88,832,060 (GRCm39) |
T191A |
|
Het |
| Or5b3 |
A |
T |
19: 13,388,334 (GRCm39) |
T134S |
probably benign |
Het |
| Pcdhb4 |
C |
A |
18: 37,442,905 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,311,628 (GRCm39) |
D351N |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,472,154 (GRCm39) |
|
probably null |
Het |
| Rerg |
T |
A |
6: 137,033,415 (GRCm39) |
K106* |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,854 (GRCm39) |
E469G |
possibly damaging |
Het |
| Smok2b |
C |
A |
17: 13,453,865 (GRCm39) |
Y8* |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,688 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Spn |
A |
G |
7: 126,735,437 (GRCm39) |
S357P |
probably benign |
Het |
| Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,866,762 (GRCm39) |
H531L |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,807,336 (GRCm39) |
M1027V |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,616 (GRCm39) |
R1408* |
probably null |
Het |
| Tut4 |
T |
A |
4: 108,412,778 (GRCm39) |
M1493K |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,101,869 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn1r52 |
G |
A |
6: 90,156,008 (GRCm39) |
C104Y |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,148,255 (GRCm39) |
E273V |
probably damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,168,770 (GRCm39) |
Q1035K |
unknown |
Het |
| Zfp14 |
A |
T |
7: 29,738,609 (GRCm39) |
S125R |
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 |
|
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 |
|
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'- AGGCCAATGAATACTGGGC -3'
(R):5'- TAGGACTCAGTCTGTTGATGGC -3'
Sequencing Primer
(F):5'- CGCTCAGGCAGAATGTTCTAG -3'
(R):5'- ATGGCAGACTTGTCCCTGGTAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation