Incidental Mutation 'IGL01345:Gm8267'
| ID |
75010 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm8267
|
| Ensembl Gene |
ENSMUSG00000091923 |
| Gene Name |
predicted gene 8267 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL01345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
44954624-44962444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44962412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 3
(S3P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165003]
[ENSMUST00000169062]
[ENSMUST00000226900]
|
| AlphaFold |
E9Q207 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165003
AA Change: S3P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129187
Gene: ENSMUSG00000091923
AA Change: S3P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
48 |
128 |
1.4e-28 |
PFAM |
|
coiled coil region
|
144 |
175 |
N/A |
INTRINSIC |
|
transmembrane domain
|
238 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169062
AA Change: S3P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129402
Gene: ENSMUSG00000091923
AA Change: S3P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
46 |
129 |
4.9e-37 |
PFAM |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226900
AA Change: S3P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228619
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Atr |
G |
A |
9: 95,823,002 (GRCm39) |
C2323Y |
probably damaging |
Het |
| Ccdc107 |
T |
A |
4: 43,493,453 (GRCm39) |
L8* |
probably null |
Het |
| Erc1 |
T |
A |
6: 119,738,224 (GRCm39) |
K240* |
probably null |
Het |
| Gcat |
T |
C |
15: 78,918,265 (GRCm39) |
|
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
| Gpr26 |
T |
C |
7: 131,569,161 (GRCm39) |
F169L |
possibly damaging |
Het |
| Itgal |
T |
A |
7: 126,900,128 (GRCm39) |
F129I |
possibly damaging |
Het |
| Kcnk1 |
T |
A |
8: 126,752,146 (GRCm39) |
C251S |
possibly damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,300,742 (GRCm39) |
D608G |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,320,491 (GRCm39) |
E882G |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,266,947 (GRCm39) |
K385E |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,387,020 (GRCm39) |
D854N |
possibly damaging |
Het |
| Rnf220 |
G |
A |
4: 117,130,467 (GRCm39) |
R253* |
probably null |
Het |
| Slc22a15 |
A |
C |
3: 101,787,492 (GRCm39) |
S259R |
probably benign |
Het |
| Tln1 |
G |
A |
4: 43,536,281 (GRCm39) |
L2004F |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,532,054 (GRCm39) |
S126P |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,037,228 (GRCm39) |
T587A |
possibly damaging |
Het |
| Vasn |
A |
G |
16: 4,466,232 (GRCm39) |
I60V |
probably benign |
Het |
| Vps33a |
G |
T |
5: 123,711,006 (GRCm39) |
N13K |
probably benign |
Het |
| Zmiz2 |
A |
G |
11: 6,355,015 (GRCm39) |
D862G |
possibly damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,057 (GRCm39) |
L179H |
probably damaging |
Het |
|
| Other mutations in Gm8267 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02031:Gm8267
|
APN |
14 |
44,955,374 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3619:Gm8267
|
UTSW |
14 |
44,961,513 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4715:Gm8267
|
UTSW |
14 |
44,955,292 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6599:Gm8267
|
UTSW |
14 |
44,955,367 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7001:Gm8267
|
UTSW |
14 |
44,960,385 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7057:Gm8267
|
UTSW |
14 |
44,959,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7439:Gm8267
|
UTSW |
14 |
44,960,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7441:Gm8267
|
UTSW |
14 |
44,960,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8053:Gm8267
|
UTSW |
14 |
44,962,307 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8313:Gm8267
|
UTSW |
14 |
44,961,515 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8721:Gm8267
|
UTSW |
14 |
44,959,507 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9150:Gm8267
|
UTSW |
14 |
44,955,362 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9464:Gm8267
|
UTSW |
14 |
44,960,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Gm8267
|
UTSW |
14 |
44,962,322 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Posted On |
2013-10-07 |
Incidental Mutation