Incidental Mutation 'R5349:Gm8220'
| ID |
422777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm8220
|
| Ensembl Gene |
ENSMUSG00000091725 |
| Gene Name |
predicted gene 8220 |
| Synonyms |
|
| MMRRC Submission |
042928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R5349 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
44523037-44528525 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44525634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 101
(I101T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169601]
[ENSMUST00000177877]
|
| AlphaFold |
L7N2B0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164663
AA Change: I107T
|
| SMART Domains |
Protein: ENSMUSP00000131482
Gene: ENSMUSG00000091725
AA Change: I107T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
57 |
137 |
3e-27 |
PFAM |
|
coiled coil region
|
164 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169601
AA Change: I101T
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129002
Gene: ENSMUSG00000091725
AA Change: I101T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
50 |
130 |
2.6e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177877
AA Change: I16T
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136414
Gene: ENSMUSG00000091725
AA Change: I16T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
7 |
46 |
4.4e-8 |
PFAM |
|
coiled coil region
|
73 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228838
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,917,986 (GRCm39) |
E327G |
possibly damaging |
Het |
| Cd209d |
T |
G |
8: 3,928,320 (GRCm39) |
M22L |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,380,956 (GRCm39) |
V75A |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,462 (GRCm39) |
E642G |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,125 (GRCm39) |
V571A |
unknown |
Het |
| Dip2c |
C |
A |
13: 9,672,689 (GRCm39) |
H1032N |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,694 (GRCm39) |
D385V |
probably damaging |
Het |
| Fbxl3 |
T |
C |
14: 103,333,012 (GRCm39) |
|
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,263,529 (GRCm39) |
|
probably null |
Het |
| Grin2b |
A |
G |
6: 136,021,281 (GRCm39) |
C7R |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,384,409 (GRCm39) |
I516T |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,641 (GRCm39) |
D89G |
possibly damaging |
Het |
| Ogfod1 |
T |
G |
8: 94,781,876 (GRCm39) |
|
probably benign |
Het |
| Or4k2 |
G |
T |
14: 50,424,230 (GRCm39) |
S148* |
probably null |
Het |
| Pard3 |
G |
T |
8: 128,142,224 (GRCm39) |
D930Y |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,932 (GRCm39) |
C9Y |
probably damaging |
Het |
| Pilra |
T |
A |
5: 137,829,488 (GRCm39) |
D192V |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,605 (GRCm39) |
S176P |
probably benign |
Het |
| Slc4a2 |
T |
C |
5: 24,640,633 (GRCm39) |
V685A |
possibly damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,740,951 (GRCm39) |
F44L |
possibly damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,337 (GRCm39) |
F108L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,638,450 (GRCm39) |
I13943M |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,710,856 (GRCm39) |
D2577G |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,040,929 (GRCm39) |
F675I |
probably damaging |
Het |
|
| Other mutations in Gm8220 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01641:Gm8220
|
APN |
14 |
44,525,628 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02998:Gm8220
|
APN |
14 |
44,525,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03251:Gm8220
|
APN |
14 |
44,525,729 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0845:Gm8220
|
UTSW |
14 |
44,524,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4066:Gm8220
|
UTSW |
14 |
44,523,095 (GRCm39) |
nonsense |
probably null |
|
|
R4743:Gm8220
|
UTSW |
14 |
44,523,152 (GRCm39) |
unclassified |
probably benign |
|
|
R6394:Gm8220
|
UTSW |
14 |
44,523,134 (GRCm39) |
unclassified |
probably benign |
|
|
R6932:Gm8220
|
UTSW |
14 |
44,525,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCAGCACCCTGCCTTTAC -3'
(R):5'- CAAGGATTGGCAGACATATCCTG -3'
Sequencing Primer
(F):5'- GCTTACTGGCCCAAGCTAATGAG -3'
(R):5'- ATTGGCAGACATATCCTGTGCCTAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation