Incidental Mutation 'R4032:Sergef'
| ID |
313533 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4032 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
46092578-46289231 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 46092726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 428
(E428*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033127]
[ENSMUST00000160433]
[ENSMUST00000216505]
|
| AlphaFold |
Q80YD6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033127
AA Change: E428*
|
| SMART Domains |
Protein: ENSMUSP00000033127
Gene: ENSMUSG00000030839
AA Change: E428*
| 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 |
probably benign
Transcript: ENSMUST00000160433
|
| SMART Domains |
Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
8 |
112 |
2.29e-15 |
SMART |
|
low complexity region
|
125 |
149 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
189 |
447 |
6.9e-47 |
PFAM |
|
Pfam:Ion_trans_2
|
347 |
440 |
1.4e-12 |
PFAM |
|
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216505
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,879,289 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,237,389 (GRCm39) |
M846L |
probably damaging |
Het |
| Capn5 |
G |
T |
7: 97,778,453 (GRCm39) |
Q389K |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,902,118 (GRCm39) |
I109N |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,172 (GRCm39) |
I334V |
probably benign |
Het |
| Cs |
T |
C |
10: 128,196,913 (GRCm39) |
L436P |
probably damaging |
Het |
| D17H6S53E |
T |
C |
17: 35,346,355 (GRCm39) |
S89P |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,584,483 (GRCm39) |
Q629* |
probably null |
Het |
| H4c12 |
T |
C |
13: 21,934,588 (GRCm39) |
I30V |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,573,082 (GRCm39) |
P75S |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,791,250 (GRCm39) |
H38Y |
probably damaging |
Het |
| Mansc4 |
T |
C |
6: 146,976,678 (GRCm39) |
K313E |
probably benign |
Het |
| Megf6 |
T |
A |
4: 154,261,550 (GRCm39) |
C58* |
probably null |
Het |
| Mtor |
T |
C |
4: 148,621,209 (GRCm39) |
V1869A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,877 (GRCm38) |
|
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,300,110 (GRCm39) |
S657G |
possibly damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,629 (GRCm39) |
T213A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,559 (GRCm39) |
Y34F |
probably benign |
Het |
| Or4m1 |
T |
A |
14: 50,557,767 (GRCm39) |
D175V |
possibly damaging |
Het |
| Or4n5 |
G |
T |
14: 50,132,433 (GRCm39) |
H275Q |
probably benign |
Het |
| Or51f23 |
A |
G |
7: 102,453,396 (GRCm39) |
K237R |
probably benign |
Het |
| Pabir1 |
C |
T |
19: 24,454,106 (GRCm39) |
M205I |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,429,753 (GRCm39) |
D82G |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,667,414 (GRCm39) |
T522M |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,438,740 (GRCm39) |
N373K |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,720,386 (GRCm39) |
Y1478C |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,017,323 (GRCm39) |
I46F |
probably damaging |
Het |
| Stk36 |
A |
G |
1: 74,665,207 (GRCm39) |
S651G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
| Ugt8a |
C |
A |
3: 125,667,807 (GRCm39) |
D345Y |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,683,127 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,594,263 (GRCm39) |
L3156Q |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,180,858 (GRCm39) |
T239A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,449 (GRCm39) |
T210A |
possibly 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 |
|
|
IGL00864:Sergef
|
APN |
7 |
46,165,087 (GRCm39) |
splice 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCTGACAGGAAGATTACTGAC -3'
(R):5'- GTTGGAACGAACACGGCATG -3'
Sequencing Primer
(F):5'- GGAAGATTACTGACCCCATAATCTG -3'
(R):5'- ATGGCACTGAGTCCAATGTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation