Incidental Mutation 'IGL01387:Gk5'
ID |
79097 |
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 # |
IGL01387
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 96059607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085217]
[ENSMUST00000122383]
[ENSMUST00000129774]
|
AlphaFold |
Q8BX05 |
Predicted Effect |
probably null
Transcript: ENSMUST00000085217
|
SMART Domains |
Protein: ENSMUSP00000082313 Gene: ENSMUSG00000041440
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 null
Transcript: ENSMUST00000122383
|
SMART Domains |
Protein: ENSMUSP00000112717 Gene: ENSMUSG00000041440
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: ENSMUST00000189249
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,835,596 (GRCm39) |
I288T |
possibly damaging |
Het |
Akr1c13 |
T |
A |
13: 4,247,794 (GRCm39) |
|
probably null |
Het |
Ano2 |
T |
C |
6: 125,990,240 (GRCm39) |
L787P |
probably damaging |
Het |
Arf4 |
A |
T |
14: 26,374,300 (GRCm39) |
I73F |
possibly damaging |
Het |
Atp6v1e1 |
A |
G |
6: 120,772,732 (GRCm39) |
|
probably null |
Het |
Ccdc9 |
A |
C |
7: 16,018,424 (GRCm39) |
M1R |
probably null |
Het |
Cep162 |
A |
G |
9: 87,093,864 (GRCm39) |
L838S |
probably benign |
Het |
Cfap251 |
T |
A |
5: 123,421,609 (GRCm39) |
I654N |
probably damaging |
Het |
Cfi |
T |
A |
3: 129,668,562 (GRCm39) |
|
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,927,110 (GRCm39) |
T107A |
probably benign |
Het |
Erlin2 |
T |
C |
8: 27,526,576 (GRCm39) |
L312P |
probably benign |
Het |
Etv1 |
T |
G |
12: 38,911,326 (GRCm39) |
M384R |
probably damaging |
Het |
Exph5 |
G |
T |
9: 53,285,265 (GRCm39) |
S782I |
possibly damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,823,326 (GRCm39) |
N6353S |
possibly damaging |
Het |
Gm11168 |
T |
G |
9: 3,005,128 (GRCm39) |
S202R |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,341,310 (GRCm39) |
D1016G |
possibly damaging |
Het |
Kpna4 |
A |
G |
3: 69,009,590 (GRCm39) |
|
probably benign |
Het |
Lrrn2 |
T |
C |
1: 132,866,096 (GRCm39) |
V387A |
possibly damaging |
Het |
Or4a76 |
T |
A |
2: 89,460,964 (GRCm39) |
R93* |
probably null |
Het |
Or5bw2 |
A |
G |
7: 6,573,854 (GRCm39) |
Y288C |
probably damaging |
Het |
Or6c33 |
T |
A |
10: 129,853,710 (GRCm39) |
M160K |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,617 (GRCm39) |
L115S |
probably damaging |
Het |
Or8k37 |
T |
C |
2: 86,469,594 (GRCm39) |
T153A |
probably benign |
Het |
Plekhs1 |
A |
G |
19: 56,459,403 (GRCm39) |
Q51R |
probably benign |
Het |
Rab27b |
T |
A |
18: 70,118,380 (GRCm39) |
D179V |
possibly damaging |
Het |
Rprd2 |
C |
T |
3: 95,672,631 (GRCm39) |
R924H |
probably benign |
Het |
Shprh |
T |
C |
10: 11,045,998 (GRCm39) |
I905T |
probably damaging |
Het |
Trpm8 |
T |
C |
1: 88,271,009 (GRCm39) |
L433P |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,554,649 (GRCm39) |
L1861S |
possibly damaging |
Het |
Vmn2r124 |
C |
A |
17: 18,283,188 (GRCm39) |
T294K |
probably damaging |
Het |
Znrf3 |
A |
T |
11: 5,288,656 (GRCm39) |
C37* |
probably null |
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 |
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 |
2013-11-05 |