Incidental Mutation 'R9077:Gk5'
| ID |
689853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gk5
|
| Ensembl Gene |
ENSMUSG00000041440 |
| Gene Name |
glycerol kinase 5 |
| Synonyms |
G630067D24Rik, C330018K18Rik |
| MMRRC Submission |
068898-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9077 (G1)
|
| Quality Score |
185.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96001634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 44
(T44K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085217]
[ENSMUST00000122383]
[ENSMUST00000129774]
|
| AlphaFold |
Q8BX05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085217
AA Change: T44K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: T44K
| 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: T44K
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: T44K
| 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 |
possibly damaging
Transcript: ENSMUST00000129774
AA Change: T44K
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123594
Gene: ENSMUSG00000041440
AA Change: T44K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1bu6o1
|
24 |
56 |
1e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
| Alkbh3 |
A |
G |
2: 93,811,925 (GRCm39) |
V235A |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,706,721 (GRCm39) |
I982V |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,500,899 (GRCm39) |
D1117G |
possibly damaging |
Het |
| Arhgap31 |
G |
T |
16: 38,422,730 (GRCm39) |
A1112D |
probably damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,760,824 (GRCm39) |
C27R |
unknown |
Het |
| Bzw1 |
T |
A |
1: 58,438,190 (GRCm39) |
M90K |
probably benign |
Het |
| Cdk17 |
T |
C |
10: 93,068,277 (GRCm39) |
Y345H |
probably damaging |
Het |
| Cip2a |
A |
G |
16: 48,827,511 (GRCm39) |
I459V |
probably benign |
Het |
| Cog8 |
C |
T |
8: 107,779,208 (GRCm39) |
M356I |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,516,431 (GRCm39) |
D173G |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,121,029 (GRCm39) |
C1488* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,741,218 (GRCm39) |
K13E |
unknown |
Het |
| Eif3f |
A |
G |
7: 108,539,425 (GRCm39) |
M232V |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,763,217 (GRCm39) |
F260S |
probably damaging |
Het |
| Glyctk |
C |
A |
9: 106,032,522 (GRCm39) |
R497L |
probably benign |
Het |
| Gm10153 |
G |
T |
7: 141,743,383 (GRCm39) |
C248* |
probably null |
Het |
| Hand2 |
A |
G |
8: 57,776,836 (GRCm39) |
K199E |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,428,247 (GRCm39) |
C795S |
probably benign |
Het |
| Il31ra |
T |
C |
13: 112,670,361 (GRCm39) |
I342M |
probably benign |
Het |
| Itm2b |
G |
T |
14: 73,605,865 (GRCm39) |
D40E |
probably benign |
Het |
| Ksr1 |
T |
C |
11: 78,927,552 (GRCm39) |
T371A |
probably damaging |
Het |
| Lctl |
C |
A |
9: 64,039,241 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
G |
A |
12: 16,591,747 (GRCm39) |
P827S |
|
Het |
| Lyst |
T |
C |
13: 13,857,693 (GRCm39) |
I2494T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,226,760 (GRCm39) |
N510S |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,469,974 (GRCm39) |
D1308G |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,548 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
G |
A |
7: 139,980,809 (GRCm39) |
P50L |
probably benign |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Or56b1 |
A |
G |
7: 104,285,618 (GRCm39) |
T246A |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,148,856 (GRCm39) |
Y490C |
probably damaging |
Het |
| Pard6g |
A |
G |
18: 80,160,772 (GRCm39) |
E295G |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,414 (GRCm39) |
V23A |
probably damaging |
Het |
| Phactr3 |
A |
T |
2: 177,974,758 (GRCm39) |
|
probably benign |
Het |
| Pip |
G |
A |
6: 41,828,388 (GRCm39) |
S74N |
probably damaging |
Het |
| Plau |
G |
A |
14: 20,889,949 (GRCm39) |
E265K |
probably benign |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Rcor3 |
C |
T |
1: 191,807,865 (GRCm39) |
D230N |
probably damaging |
Het |
| Siglec15 |
A |
G |
18: 78,091,983 (GRCm39) |
Y73H |
possibly damaging |
Het |
| Spag16 |
T |
A |
1: 70,532,930 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
T |
1: 174,045,170 (GRCm39) |
D1506Y |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,635,711 (GRCm39) |
Y305F |
probably benign |
Het |
| Tcstv7a |
T |
C |
13: 120,289,885 (GRCm39) |
M104V |
probably benign |
Het |
| Vmn1r83 |
G |
A |
7: 12,055,571 (GRCm39) |
T162M |
probably damaging |
Het |
| Vmn2r116 |
G |
T |
17: 23,604,956 (GRCm39) |
D90Y |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,364,608 (GRCm39) |
N304S |
probably benign |
Het |
| Wee1 |
G |
A |
7: 109,725,963 (GRCm39) |
V358I |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,401,468 (GRCm39) |
P4084S |
unknown |
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 |
|
|
R1134:Gk5
|
UTSW |
9 |
96,015,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TCTGGCGTTTATAGCTCCGC -3'
(R):5'- TATACACAATCTGCCCGCG -3'
Sequencing Primer
(F):5'- CGTGGCGACTGCAGTGTT -3'
(R):5'- TCGGTTCCACCCAGGTAAAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation