Incidental Mutation 'R5197:Ngef'
ID |
400301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ngef
|
Ensembl Gene |
ENSMUSG00000026259 |
Gene Name |
neuronal guanine nucleotide exchange factor |
Synonyms |
ephexin, Tims2 |
MMRRC Submission |
042773-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5197 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
87404556-87501592 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 87437090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 133
(G133*)
|
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
AA Change: G43*
|
SMART Domains |
Protein: ENSMUSP00000027477 Gene: ENSMUSG00000026259 AA Change: G43*
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
AA Change: G133*
|
SMART Domains |
Protein: ENSMUSP00000066894 Gene: ENSMUSG00000026259 AA Change: G133*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
99% (67/68) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
T |
C |
9: 54,529,866 (GRCm39) |
E247G |
possibly damaging |
Het |
Adgra3 |
A |
G |
5: 50,118,096 (GRCm39) |
F1151L |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Aldh4a1 |
A |
C |
4: 139,375,612 (GRCm39) |
|
probably benign |
Het |
Anln |
A |
T |
9: 22,264,077 (GRCm39) |
|
probably null |
Het |
Aste1 |
T |
C |
9: 105,282,253 (GRCm39) |
S74P |
probably damaging |
Het |
Atp6v0e2 |
G |
A |
6: 48,517,051 (GRCm39) |
R77H |
probably benign |
Het |
Brpf1 |
A |
G |
6: 113,296,902 (GRCm39) |
D962G |
possibly damaging |
Het |
Btbd2 |
T |
C |
10: 80,482,253 (GRCm39) |
D249G |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,955,989 (GRCm39) |
|
probably null |
Het |
Cfap43 |
A |
G |
19: 47,885,811 (GRCm39) |
L268P |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,255,413 (GRCm39) |
V540A |
probably benign |
Het |
Col22a1 |
C |
T |
15: 71,881,255 (GRCm39) |
G32D |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,432,241 (GRCm39) |
P804Q |
probably benign |
Het |
Cyp2d41-ps |
A |
G |
15: 82,662,981 (GRCm39) |
|
noncoding transcript |
Het |
Cyp39a1 |
T |
G |
17: 44,057,429 (GRCm39) |
L423V |
possibly damaging |
Het |
Elmo1 |
T |
G |
13: 20,748,607 (GRCm39) |
V484G |
probably benign |
Het |
Eps8 |
C |
A |
6: 137,467,288 (GRCm39) |
Q656H |
probably damaging |
Het |
Eps8 |
T |
C |
6: 137,467,289 (GRCm39) |
Q656R |
possibly damaging |
Het |
Fshb |
T |
C |
2: 106,887,854 (GRCm39) |
D55G |
possibly damaging |
Het |
Garin1a |
G |
T |
6: 29,281,221 (GRCm39) |
|
probably benign |
Het |
H3c4 |
T |
A |
13: 23,760,304 (GRCm39) |
L110Q |
probably damaging |
Het |
Herc1 |
C |
A |
9: 66,355,786 (GRCm39) |
Q2346K |
probably damaging |
Het |
Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
Ift74 |
T |
A |
4: 94,550,833 (GRCm39) |
D328E |
probably benign |
Het |
Kif21b |
A |
T |
1: 136,072,363 (GRCm39) |
K23M |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lipc |
T |
A |
9: 70,705,673 (GRCm39) |
E470V |
probably benign |
Het |
Lrrc4 |
G |
T |
6: 28,830,142 (GRCm39) |
T68K |
probably damaging |
Het |
Lrrc63 |
T |
A |
14: 75,322,322 (GRCm39) |
H594L |
possibly damaging |
Het |
Mfsd14a |
A |
T |
3: 116,442,150 (GRCm39) |
|
probably benign |
Het |
Mob2 |
T |
C |
7: 141,563,274 (GRCm39) |
|
probably null |
Het |
Nckap5 |
T |
A |
1: 126,150,410 (GRCm39) |
H105L |
possibly damaging |
Het |
Or14j2 |
T |
G |
17: 37,886,111 (GRCm39) |
I68L |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2t1 |
T |
A |
14: 14,328,462 (GRCm38) |
M117K |
probably damaging |
Het |
Or52s1 |
G |
A |
7: 102,861,207 (GRCm39) |
V47I |
probably benign |
Het |
Or5b120 |
G |
T |
19: 13,479,748 (GRCm39) |
V14F |
possibly damaging |
Het |
Or5g23 |
T |
C |
2: 85,438,791 (GRCm39) |
I154M |
probably benign |
Het |
Pard3 |
A |
G |
8: 127,800,040 (GRCm39) |
|
probably null |
Het |
Pgm2 |
C |
T |
5: 64,263,175 (GRCm39) |
A274V |
possibly damaging |
Het |
Ppp1r9a |
T |
A |
6: 5,156,177 (GRCm39) |
S1144R |
probably damaging |
Het |
Pramel23 |
A |
C |
4: 143,424,632 (GRCm39) |
C270W |
possibly damaging |
Het |
Prkcq |
C |
T |
2: 11,304,227 (GRCm39) |
P590L |
probably damaging |
Het |
Psmd13 |
T |
A |
7: 140,474,374 (GRCm39) |
|
probably null |
Het |
Rab3gap1 |
T |
A |
1: 127,816,931 (GRCm39) |
D63E |
probably benign |
Het |
Rag2 |
C |
A |
2: 101,461,085 (GRCm39) |
T465K |
probably damaging |
Het |
Rnase6 |
A |
G |
14: 51,367,670 (GRCm39) |
M21V |
unknown |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,653,316 (GRCm39) |
|
probably null |
Het |
Sash1 |
T |
G |
10: 8,615,989 (GRCm39) |
R624S |
probably damaging |
Het |
Slc1a2 |
A |
G |
2: 102,586,460 (GRCm39) |
I355V |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,036,358 (GRCm39) |
S1097P |
probably benign |
Het |
Sugct |
C |
T |
13: 17,497,861 (GRCm39) |
A271T |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,034,350 (GRCm39) |
V1065A |
probably damaging |
Het |
Tmprss6 |
T |
A |
15: 78,338,389 (GRCm39) |
Y307F |
probably damaging |
Het |
Tram1 |
T |
C |
1: 13,642,126 (GRCm39) |
N216S |
probably benign |
Het |
Ttk |
T |
C |
9: 83,721,394 (GRCm39) |
V93A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,195,408 (GRCm39) |
Y1210C |
probably damaging |
Het |
Wdr7 |
A |
G |
18: 63,871,937 (GRCm39) |
K364E |
probably benign |
Het |
Xrcc2 |
G |
T |
5: 25,897,656 (GRCm39) |
H98N |
probably benign |
Het |
Zdhhc11 |
A |
G |
13: 74,113,688 (GRCm39) |
I77V |
probably benign |
Het |
Zfp54 |
C |
T |
17: 21,654,442 (GRCm39) |
S312L |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGCTCTCATGGTCCAAAC -3'
(R):5'- TGTAGGAGTGAATCACCCCGTC -3'
Sequencing Primer
(F):5'- TCTCATGGTCCAAACGAGTCG -3'
(R):5'- CAAAAAGGGTTTGTCGGGCTC -3'
|
Posted On |
2016-07-06 |