Incidental Mutation 'R1134:Gk5'
| ID |
94841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gk5
|
| Ensembl Gene |
ENSMUSG00000041440 |
| Gene Name |
glycerol kinase 5 |
| Synonyms |
G630067D24Rik, C330018K18Rik |
| MMRRC Submission |
039207-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1134 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96015460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 92
(N92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085217]
[ENSMUST00000122383]
[ENSMUST00000129774]
|
| AlphaFold |
Q8BX05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085217
AA Change: N92S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: N92S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
Pfam:FGGY_N
|
25 |
287 |
9e-50 |
PFAM |
|
Pfam:FGGY_C
|
296 |
485 |
7.7e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122383
AA Change: N92S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: N92S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
Pfam:FGGY_N
|
25 |
287 |
1.9e-49 |
PFAM |
|
Pfam:FGGY_C
|
296 |
485 |
1.8e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129774
|
| SMART Domains |
Protein: ENSMUSP00000123594
Gene: ENSMUSG00000041440
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1bu6o1
|
24 |
56 |
1e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136496
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout does not result in an obvious skin phenotype and does not lead to alopecia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(19) : Targeted(2) Gene trapped(17)
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl6 |
C |
A |
16: 23,787,115 (GRCm39) |
R595L |
probably benign |
Het |
| Cd40 |
T |
A |
2: 164,912,738 (GRCm39) |
C230S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
C |
10: 99,100,816 (GRCm39) |
F271L |
probably damaging |
Het |
| Endou |
A |
G |
15: 97,611,747 (GRCm39) |
V339A |
probably damaging |
Het |
| Erich2 |
T |
A |
2: 70,366,535 (GRCm39) |
L370* |
probably null |
Het |
| Fabp12 |
T |
C |
3: 10,312,731 (GRCm39) |
D97G |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 64,998,391 (GRCm39) |
S368P |
probably benign |
Het |
| Lhfpl2 |
C |
T |
13: 94,310,760 (GRCm39) |
S10L |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,557 (GRCm39) |
V645A |
probably benign |
Het |
| Ms4a4d |
C |
T |
19: 11,535,298 (GRCm39) |
L199F |
possibly damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,476 (GRCm39) |
S291G |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,525 (GRCm39) |
Y35C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,947,938 (GRCm39) |
E2313G |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,655,272 (GRCm39) |
V1733A |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,832 (GRCm39) |
Q112R |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,915,138 (GRCm39) |
V716I |
probably benign |
Het |
| Plekhg2 |
G |
T |
7: 28,061,426 (GRCm39) |
S816R |
probably damaging |
Het |
| Rev1 |
G |
A |
1: 38,096,768 (GRCm39) |
S810L |
probably benign |
Het |
| Tbx15 |
G |
T |
3: 99,223,639 (GRCm39) |
V276L |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,525 (GRCm39) |
D274V |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,061,143 (GRCm39) |
L150P |
possibly damaging |
Het |
| Trpa1 |
A |
T |
1: 14,951,972 (GRCm39) |
I909N |
possibly damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,708,975 (GRCm39) |
I80T |
probably damaging |
Het |
| Zcchc8 |
C |
G |
5: 123,855,090 (GRCm39) |
G40R |
probably damaging |
Het |
|
| Other mutations in Gk5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01359:Gk5
|
APN |
9 |
96,019,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01387:Gk5
|
APN |
9 |
96,059,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01771:Gk5
|
APN |
9 |
96,059,488 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02253:Gk5
|
APN |
9 |
96,019,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Gk5
|
APN |
9 |
96,032,533 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02566:Gk5
|
APN |
9 |
96,011,099 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03137:Gk5
|
APN |
9 |
96,058,345 (GRCm39) |
splice site |
probably benign |
|
|
IGL03256:Gk5
|
APN |
9 |
96,011,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03326:Gk5
|
APN |
9 |
96,019,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
barrener
|
UTSW |
9 |
96,011,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
glimpse
|
UTSW |
9 |
96,063,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
homer
|
UTSW |
9 |
96,022,709 (GRCm39) |
nonsense |
probably null |
|
|
sean
|
UTSW |
9 |
96,058,290 (GRCm39) |
nonsense |
probably null |
|
|
stripped
|
UTSW |
9 |
96,011,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tangyuan
|
UTSW |
9 |
96,032,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
toku
|
UTSW |
9 |
96,022,682 (GRCm39) |
frame shift |
probably null |
|
|
victoria
|
UTSW |
9 |
96,032,839 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
G1patch:Gk5
|
UTSW |
9 |
96,037,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
I1329:Gk5
|
UTSW |
9 |
96,022,682 (GRCm39) |
frame shift |
probably null |
|
|
R0279:Gk5
|
UTSW |
9 |
96,056,857 (GRCm39) |
splice site |
probably benign |
|
|
R0284:Gk5
|
UTSW |
9 |
96,063,823 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1184:Gk5
|
UTSW |
9 |
96,032,473 (GRCm39) |
splice site |
probably benign |
|
|
R1772:Gk5
|
UTSW |
9 |
96,032,850 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1781:Gk5
|
UTSW |
9 |
96,015,508 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3691:Gk5
|
UTSW |
9 |
96,011,149 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4213:Gk5
|
UTSW |
9 |
96,011,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Gk5
|
UTSW |
9 |
96,059,470 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5166:Gk5
|
UTSW |
9 |
96,056,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5643:Gk5
|
UTSW |
9 |
96,022,709 (GRCm39) |
nonsense |
probably null |
|
|
R5857:Gk5
|
UTSW |
9 |
96,001,508 (GRCm39) |
nonsense |
probably null |
|
|
R5924:Gk5
|
UTSW |
9 |
96,032,563 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6109:Gk5
|
UTSW |
9 |
96,022,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6138:Gk5
|
UTSW |
9 |
96,058,290 (GRCm39) |
nonsense |
probably null |
|
|
R6725:Gk5
|
UTSW |
9 |
96,037,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6812:Gk5
|
UTSW |
9 |
96,032,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7065:Gk5
|
UTSW |
9 |
96,061,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Gk5
|
UTSW |
9 |
96,001,579 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7213:Gk5
|
UTSW |
9 |
96,027,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Gk5
|
UTSW |
9 |
96,001,663 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7607:Gk5
|
UTSW |
9 |
96,035,263 (GRCm39) |
splice site |
probably null |
|
|
R7666:Gk5
|
UTSW |
9 |
96,035,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Gk5
|
UTSW |
9 |
96,056,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Gk5
|
UTSW |
9 |
96,032,839 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8954:Gk5
|
UTSW |
9 |
96,059,562 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9077:Gk5
|
UTSW |
9 |
96,001,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9186:Gk5
|
UTSW |
9 |
96,015,469 (GRCm39) |
missense |
probably benign |
0.44 |
|
U15987:Gk5
|
UTSW |
9 |
96,058,290 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGGAGATTTTAATTCACCATCACCA -3'
(R):5'- AGTACTGAAGTAGGAGCTATGCCTGG -3'
Sequencing Primer
(F):5'- agccgtctctccagccc -3'
(R):5'- TGTATCTATGAGCTAAAAGGAGACCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation