Incidental Mutation 'IGL00864:Sergef'
| ID |
13967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sergef
|
| Ensembl Gene |
ENSMUSG00000030839 |
| Gene Name |
secretion regulating guanine nucleotide exchange factor |
| Synonyms |
DelGEF, Gef, Gnefr |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.360)
|
| Stock # |
IGL00864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46092578-46289231 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 46165087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033127]
[ENSMUST00000216505]
|
| AlphaFold |
Q80YD6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033127
|
| SMART Domains |
Protein: ENSMUSP00000033127
Gene: ENSMUSG00000030839
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
16 |
64 |
7.3e-13 |
PFAM |
|
Pfam:RCC1_2
|
51 |
80 |
8e-8 |
PFAM |
|
Pfam:RCC1
|
67 |
116 |
3.9e-11 |
PFAM |
|
Pfam:RCC1_2
|
103 |
132 |
6.4e-11 |
PFAM |
|
Pfam:RCC1
|
119 |
168 |
3.3e-10 |
PFAM |
|
Pfam:RCC1_2
|
213 |
243 |
2.3e-10 |
PFAM |
|
Pfam:RCC1
|
230 |
279 |
7.5e-8 |
PFAM |
|
Pfam:RCC1
|
283 |
348 |
5.8e-12 |
PFAM |
|
Pfam:RCC1
|
351 |
401 |
7.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156147
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211086
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216505
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,092,895 (GRCm39) |
D142G |
probably damaging |
Het |
| Ap2b1 |
A |
C |
11: 83,223,984 (GRCm39) |
D195A |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,503 (GRCm39) |
I1171K |
probably benign |
Het |
| Atm |
T |
C |
9: 53,445,233 (GRCm39) |
S2G |
probably damaging |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,818,016 (GRCm39) |
S356P |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,587 (GRCm39) |
K128R |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,313,738 (GRCm39) |
I6T |
probably benign |
Het |
| Itm2b |
T |
C |
14: 73,600,575 (GRCm39) |
K242E |
probably damaging |
Het |
| Kcnq5 |
T |
A |
1: 21,575,987 (GRCm39) |
Q239L |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,175,297 (GRCm39) |
S403P |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,241 (GRCm39) |
D130E |
probably benign |
Het |
| Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
| Opcml |
A |
C |
9: 28,812,887 (GRCm39) |
E193A |
probably damaging |
Het |
| Rab44 |
T |
C |
17: 29,358,711 (GRCm39) |
S300P |
probably benign |
Het |
| Slc6a2 |
T |
C |
8: 93,722,622 (GRCm39) |
F540L |
probably benign |
Het |
| Spag6l |
A |
G |
16: 16,598,597 (GRCm39) |
V298A |
probably benign |
Het |
| Svep1 |
G |
T |
4: 58,068,533 (GRCm39) |
Y3084* |
probably null |
Het |
| Tbc1d4 |
T |
A |
14: 101,682,002 (GRCm39) |
D1235V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,206 (GRCm39) |
L499P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,544,178 (GRCm39) |
S24609F |
probably damaging |
Het |
|
| Other mutations in Sergef |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Sergef
|
APN |
7 |
46,284,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01529:Sergef
|
APN |
7 |
46,092,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Sergef
|
UTSW |
7 |
46,282,091 (GRCm39) |
splice site |
probably null |
|
|
IGL03014:Sergef
|
UTSW |
7 |
46,240,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Sergef
|
UTSW |
7 |
46,283,170 (GRCm39) |
splice site |
probably benign |
|
|
R1604:Sergef
|
UTSW |
7 |
46,092,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1892:Sergef
|
UTSW |
7 |
46,264,040 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3955:Sergef
|
UTSW |
7 |
46,268,176 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4032:Sergef
|
UTSW |
7 |
46,092,726 (GRCm39) |
nonsense |
probably null |
|
|
R4953:Sergef
|
UTSW |
7 |
46,283,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5140:Sergef
|
UTSW |
7 |
46,285,026 (GRCm39) |
intron |
probably benign |
|
|
R5533:Sergef
|
UTSW |
7 |
46,264,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5697:Sergef
|
UTSW |
7 |
46,288,683 (GRCm39) |
intron |
probably benign |
|
|
R5930:Sergef
|
UTSW |
7 |
46,092,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6477:Sergef
|
UTSW |
7 |
46,283,250 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6725:Sergef
|
UTSW |
7 |
46,282,091 (GRCm39) |
splice site |
probably null |
|
|
R7511:Sergef
|
UTSW |
7 |
46,264,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Sergef
|
UTSW |
7 |
46,264,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Sergef
|
UTSW |
7 |
46,284,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Sergef
|
UTSW |
7 |
46,289,041 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation