Incidental Mutation 'IGL01948:1700109H08Rik'
| ID |
180994 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
1700109H08Rik
|
| Ensembl Gene |
ENSMUSG00000008307 |
| Gene Name |
RIKEN cDNA 1700109H08 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
IGL01948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3621716-3634341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3627326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 101
(F101L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008451]
[ENSMUST00000125740]
[ENSMUST00000147801]
|
| AlphaFold |
Q9D9C0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008451
AA Change: F101L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000008451
Gene: ENSMUSG00000008307
AA Change: F101L
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
68 |
96 |
1.56e-3 |
SMART |
|
EFh
|
104 |
132 |
6.45e1 |
SMART |
|
EFh
|
149 |
177 |
1.45e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125740
AA Change: F60L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117825
Gene: ENSMUSG00000008307
AA Change: F60L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
27 |
55 |
1e-8 |
PFAM |
|
Pfam:EF-hand_6
|
27 |
62 |
8.3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147801
AA Change: F101L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118797
Gene: ENSMUSG00000008307
AA Change: F101L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
68 |
96 |
1.2e-7 |
PFAM |
|
Pfam:EF-hand_6
|
68 |
99 |
1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198134
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1d |
T |
C |
14: 29,846,751 (GRCm39) |
T552A |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,063 (GRCm39) |
D506G |
possibly damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,327 (GRCm39) |
H333R |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,045,165 (GRCm39) |
V242A |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,119,228 (GRCm39) |
F425L |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,025,819 (GRCm39) |
T135S |
probably damaging |
Het |
| Gm8104 |
A |
T |
14: 42,966,607 (GRCm39) |
M120L |
probably benign |
Het |
| Gsdmc |
T |
C |
15: 63,650,430 (GRCm39) |
D308G |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,549,340 (GRCm39) |
E168V |
possibly damaging |
Het |
| Ighv5-17 |
T |
A |
12: 113,823,046 (GRCm39) |
E25V |
probably damaging |
Het |
| Imp4 |
T |
G |
1: 34,483,356 (GRCm39) |
|
probably benign |
Het |
| Ms4a5 |
A |
C |
19: 11,256,717 (GRCm39) |
M60R |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
G |
T |
2: 132,215,603 (GRCm39) |
A286E |
probably damaging |
Het |
| Ranbp9 |
T |
A |
13: 43,576,029 (GRCm39) |
Q226L |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,261 (GRCm39) |
V452A |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,850,530 (GRCm39) |
P171S |
probably damaging |
Het |
| Zdhhc17 |
G |
T |
10: 110,782,137 (GRCm39) |
T519K |
possibly damaging |
Het |
|
| Other mutations in 1700109H08Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:1700109H08Rik
|
APN |
5 |
3,630,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:1700109H08Rik
|
APN |
5 |
3,630,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02558:1700109H08Rik
|
APN |
5 |
3,632,194 (GRCm39) |
makesense |
probably null |
|
|
IGL02719:1700109H08Rik
|
APN |
5 |
3,632,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:1700109H08Rik
|
UTSW |
5 |
3,627,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:1700109H08Rik
|
UTSW |
5 |
3,625,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:1700109H08Rik
|
UTSW |
5 |
3,627,248 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4594:1700109H08Rik
|
UTSW |
5 |
3,625,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:1700109H08Rik
|
UTSW |
5 |
3,630,442 (GRCm39) |
nonsense |
probably null |
|
|
R8361:1700109H08Rik
|
UTSW |
5 |
3,632,153 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8747:1700109H08Rik
|
UTSW |
5 |
3,632,240 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9328:1700109H08Rik
|
UTSW |
5 |
3,632,161 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2014-05-07 |
Incidental Mutation