Incidental Mutation 'IGL02253:Gk5'
ID |
286501 |
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 # |
IGL02253
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96019824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 120
(F120S)
|
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: F120S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082313 Gene: ENSMUSG00000041440 AA Change: F120S
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: F120S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112717 Gene: ENSMUSG00000041440 AA Change: F120S
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
Dnajc11 |
T |
A |
4: 152,034,976 (GRCm39) |
Y28* |
probably null |
Het |
Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
Nup54 |
A |
G |
5: 92,565,310 (GRCm39) |
|
probably null |
Het |
Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
Pld4 |
A |
C |
12: 112,733,141 (GRCm39) |
K239T |
probably damaging |
Het |
Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
Sirt7 |
A |
G |
11: 120,511,693 (GRCm39) |
I13T |
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
Zyg11a |
A |
C |
4: 108,040,892 (GRCm39) |
V685G |
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 |
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 |
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 |
2015-04-16 |