Incidental Mutation 'IGL01359:Gk5'
ID |
75664 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gk5
|
Ensembl Gene |
ENSMUSG00000041440 |
Gene Name |
glycerol kinase 5 |
Synonyms |
G630067D24Rik, C330018K18Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01359
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96019842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 126
(L126P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085217]
[ENSMUST00000122383]
[ENSMUST00000129774]
|
AlphaFold |
Q8BX05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085217
AA Change: L126P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000082313 Gene: ENSMUSG00000041440 AA Change: L126P
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 damaging
Transcript: ENSMUST00000122383
AA Change: L126P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112717 Gene: ENSMUSG00000041440 AA Change: L126P
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 |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
G |
A |
17: 43,621,577 (GRCm39) |
E605K |
probably damaging |
Het |
Adgrl4 |
G |
A |
3: 151,248,923 (GRCm39) |
C737Y |
probably damaging |
Het |
Ankk1 |
A |
T |
9: 49,327,328 (GRCm39) |
I617N |
possibly damaging |
Het |
B3gat2 |
T |
C |
1: 23,802,301 (GRCm39) |
F196L |
probably damaging |
Het |
Bcl2l14 |
T |
A |
6: 134,400,828 (GRCm39) |
I83N |
probably damaging |
Het |
Bcr |
T |
C |
10: 74,995,611 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,009,939 (GRCm39) |
I127N |
probably damaging |
Het |
Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
Dnah11 |
T |
C |
12: 117,946,734 (GRCm39) |
T3117A |
probably damaging |
Het |
Dnai2 |
A |
G |
11: 114,642,614 (GRCm39) |
Y405C |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,375,145 (GRCm39) |
Y214C |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,712,762 (GRCm39) |
T100A |
probably benign |
Het |
Fkrp |
C |
T |
7: 16,545,415 (GRCm39) |
R149Q |
probably benign |
Het |
Fsd1l |
A |
G |
4: 53,659,601 (GRCm39) |
R153G |
possibly damaging |
Het |
Galnt4 |
T |
C |
10: 98,945,459 (GRCm39) |
Y395H |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,669,438 (GRCm39) |
S830G |
probably benign |
Het |
Gpc5 |
G |
A |
14: 115,607,162 (GRCm39) |
G255S |
possibly damaging |
Het |
Grk3 |
C |
A |
5: 113,085,626 (GRCm39) |
S370I |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,346,550 (GRCm39) |
D1972G |
probably benign |
Het |
Itih3 |
T |
A |
14: 30,639,729 (GRCm39) |
D364V |
probably damaging |
Het |
Lce1f |
G |
T |
3: 92,626,491 (GRCm39) |
C55* |
probably null |
Het |
Ltn1 |
A |
C |
16: 87,202,581 (GRCm39) |
|
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,315 (GRCm39) |
A8V |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,743,686 (GRCm39) |
E3974G |
probably benign |
Het |
Msl3l2 |
T |
C |
10: 55,992,340 (GRCm39) |
V355A |
probably damaging |
Het |
Nadsyn1 |
T |
C |
7: 143,374,967 (GRCm39) |
I30V |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,860,656 (GRCm39) |
V418A |
probably damaging |
Het |
Or4f57 |
A |
T |
2: 111,791,406 (GRCm39) |
M4K |
probably benign |
Het |
Or52e8 |
T |
C |
7: 104,625,193 (GRCm39) |
|
probably null |
Het |
Or52m2 |
A |
T |
7: 102,263,379 (GRCm39) |
H272Q |
probably benign |
Het |
Ppp4r3a |
T |
C |
12: 101,024,755 (GRCm39) |
E248G |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,971,067 (GRCm39) |
V234E |
probably damaging |
Het |
Radil |
G |
A |
5: 142,529,468 (GRCm39) |
T105I |
probably damaging |
Het |
Saa4 |
A |
G |
7: 46,381,060 (GRCm39) |
W21R |
possibly damaging |
Het |
Sec62 |
G |
A |
3: 30,868,455 (GRCm39) |
S228N |
unknown |
Het |
Setd4 |
C |
T |
16: 93,388,127 (GRCm39) |
G120S |
probably damaging |
Het |
Sgpl1 |
G |
A |
10: 60,936,687 (GRCm39) |
T556I |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,197,323 (GRCm39) |
D811G |
probably benign |
Het |
Slc26a11 |
A |
T |
11: 119,254,257 (GRCm39) |
M192L |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,633,525 (GRCm39) |
Q656L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,071,926 (GRCm39) |
D2491G |
probably damaging |
Het |
Tox |
T |
C |
4: 6,697,583 (GRCm39) |
T407A |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 37,973,250 (GRCm39) |
I2611N |
probably damaging |
Het |
Usp25 |
G |
A |
16: 76,856,141 (GRCm39) |
A245T |
probably damaging |
Het |
Vwa8 |
C |
A |
14: 79,302,353 (GRCm39) |
Y1007* |
probably null |
Het |
Zfp423 |
T |
C |
8: 88,507,290 (GRCm39) |
H893R |
probably damaging |
Het |
Zfp507 |
A |
G |
7: 35,493,927 (GRCm39) |
I372T |
probably damaging |
Het |
|
Other mutations in Gk5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-10-07 |