Incidental Mutation 'R6080:Gm4922'
| ID |
482891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4922
|
| Ensembl Gene |
ENSMUSG00000044624 |
| Gene Name |
predicted gene 4922 |
| Synonyms |
|
| MMRRC Submission |
044239-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
18655475-18662541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 18660500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 74
(I74S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055107]
[ENSMUST00000216654]
|
| AlphaFold |
Q8C0N0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055107
AA Change: I74S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055273
Gene: ENSMUSG00000044624
AA Change: I74S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
S_TKc
|
28 |
275 |
1.92e-75 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215162
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216654
AA Change: I74S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,906,462 (GRCm39) |
M44I |
possibly damaging |
Het |
| Anks1b |
C |
A |
10: 90,802,211 (GRCm39) |
S1209* |
probably null |
Het |
| Atp9b |
A |
G |
18: 80,782,023 (GRCm39) |
V1039A |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,099,271 (GRCm39) |
S278P |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,992,876 (GRCm39) |
K246R |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,881,197 (GRCm39) |
D330E |
possibly damaging |
Het |
| Dnah10 |
A |
T |
5: 124,882,961 (GRCm39) |
M2940L |
possibly damaging |
Het |
| Gm14326 |
T |
A |
2: 177,578,339 (GRCm39) |
T68S |
probably benign |
Het |
| Ints14 |
G |
A |
9: 64,874,044 (GRCm39) |
V99I |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,345 (GRCm39) |
S1681P |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,678,316 (GRCm39) |
E513G |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,305,035 (GRCm39) |
N252I |
probably damaging |
Het |
| Naga |
A |
G |
15: 82,219,048 (GRCm39) |
V233A |
probably benign |
Het |
| Npc1 |
C |
T |
18: 12,352,408 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or4f15 |
T |
G |
2: 111,814,050 (GRCm39) |
Y123S |
probably damaging |
Het |
| Or52n4 |
T |
C |
7: 104,294,517 (GRCm39) |
I19V |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,771,116 (GRCm39) |
F151L |
probably benign |
Het |
| Or9i2 |
C |
A |
19: 13,816,464 (GRCm39) |
L24F |
possibly damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Plag1 |
T |
C |
4: 3,903,815 (GRCm39) |
T459A |
probably benign |
Het |
| Rnase9 |
T |
C |
14: 51,276,727 (GRCm39) |
T84A |
probably benign |
Het |
| Rps6kb2 |
T |
A |
19: 4,208,671 (GRCm39) |
I282F |
probably benign |
Het |
| Smg5 |
A |
G |
3: 88,258,816 (GRCm39) |
T596A |
probably benign |
Het |
| Ugcg |
T |
C |
4: 59,218,524 (GRCm39) |
V256A |
possibly damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,299 (GRCm39) |
I21V |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,288,727 (GRCm39) |
H426L |
probably damaging |
Het |
| Vmn1r224 |
A |
G |
17: 20,639,818 (GRCm39) |
T132A |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,283 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,228,043 (GRCm39) |
N663K |
probably damaging |
Het |
| Zfp819 |
A |
G |
7: 43,266,120 (GRCm39) |
H201R |
probably benign |
Het |
| Zfp946 |
T |
A |
17: 22,674,090 (GRCm39) |
H281Q |
probably benign |
Het |
|
| Other mutations in Gm4922 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01810:Gm4922
|
APN |
10 |
18,659,795 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01818:Gm4922
|
APN |
10 |
18,660,701 (GRCm39) |
missense |
unknown |
|
|
IGL01931:Gm4922
|
APN |
10 |
18,660,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02021:Gm4922
|
APN |
10 |
18,660,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Gm4922
|
APN |
10 |
18,659,423 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03305:Gm4922
|
APN |
10 |
18,659,232 (GRCm39) |
nonsense |
probably null |
|
|
R0149:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0361:Gm4922
|
UTSW |
10 |
18,659,289 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0564:Gm4922
|
UTSW |
10 |
18,659,813 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1079:Gm4922
|
UTSW |
10 |
18,660,086 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1163:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1164:Gm4922
|
UTSW |
10 |
18,659,469 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1398:Gm4922
|
UTSW |
10 |
18,659,496 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1458:Gm4922
|
UTSW |
10 |
18,659,640 (GRCm39) |
nonsense |
probably null |
|
|
R1867:Gm4922
|
UTSW |
10 |
18,660,211 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1994:Gm4922
|
UTSW |
10 |
18,659,388 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2146:Gm4922
|
UTSW |
10 |
18,659,264 (GRCm39) |
missense |
probably benign |
|
|
R2437:Gm4922
|
UTSW |
10 |
18,659,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3551:Gm4922
|
UTSW |
10 |
18,660,244 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3939:Gm4922
|
UTSW |
10 |
18,660,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4580:Gm4922
|
UTSW |
10 |
18,659,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4602:Gm4922
|
UTSW |
10 |
18,660,007 (GRCm39) |
nonsense |
probably null |
|
|
R4704:Gm4922
|
UTSW |
10 |
18,660,567 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4790:Gm4922
|
UTSW |
10 |
18,659,916 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5478:Gm4922
|
UTSW |
10 |
18,659,885 (GRCm39) |
missense |
probably benign |
|
|
R5510:Gm4922
|
UTSW |
10 |
18,659,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5694:Gm4922
|
UTSW |
10 |
18,660,035 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6869:Gm4922
|
UTSW |
10 |
18,660,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Gm4922
|
UTSW |
10 |
18,659,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7667:Gm4922
|
UTSW |
10 |
18,660,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:Gm4922
|
UTSW |
10 |
18,659,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8270:Gm4922
|
UTSW |
10 |
18,659,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8310:Gm4922
|
UTSW |
10 |
18,659,536 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9454:Gm4922
|
UTSW |
10 |
18,660,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCACCATGACAGTAGCCTATG -3'
(R):5'- TGAGTCATCAGAGCTCAGCAC -3'
Sequencing Primer
(F):5'- TATGGCACTGAGCAACTG -3'
(R):5'- TCATCAGAGCTCAGCACTGTGC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation