Incidental Mutation 'IGL03326:Gk5'
| ID |
416665 |
| 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 # |
IGL03326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 96019892 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: 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,177,421 (GRCm39) |
S563P |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,170,985 (GRCm39) |
|
probably benign |
Het |
| Ampd2 |
T |
A |
3: 107,986,603 (GRCm39) |
Y227F |
probably benign |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,713 (GRCm39) |
|
probably null |
Het |
| Gm20422 |
T |
C |
8: 70,219,348 (GRCm39) |
T59A |
possibly damaging |
Het |
| Gria1 |
A |
T |
11: 57,208,599 (GRCm39) |
K831N |
probably damaging |
Het |
| Hspa5 |
C |
A |
2: 34,666,129 (GRCm39) |
|
probably benign |
Het |
| Igtp |
A |
G |
11: 58,097,054 (GRCm39) |
D75G |
probably benign |
Het |
| Jmjd8 |
T |
C |
17: 26,048,139 (GRCm39) |
|
probably null |
Het |
| Kcnh2 |
A |
T |
5: 24,531,411 (GRCm39) |
F158Y |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,730,044 (GRCm39) |
C456* |
probably null |
Het |
| Krtap5-2 |
A |
T |
7: 141,729,100 (GRCm39) |
C193* |
probably null |
Het |
| Mrpl2 |
T |
C |
17: 46,960,853 (GRCm39) |
V249A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,923,728 (GRCm39) |
I6433N |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,069 (GRCm39) |
F89L |
probably benign |
Het |
| Or5p63 |
T |
C |
7: 107,810,837 (GRCm39) |
I300V |
probably benign |
Het |
| Or5w14 |
A |
C |
2: 87,542,039 (GRCm39) |
D70E |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,488,671 (GRCm39) |
T985I |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,503,259 (GRCm39) |
I392T |
probably benign |
Het |
| Ppp1r1c |
A |
T |
2: 79,638,727 (GRCm39) |
N107I |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,719,765 (GRCm39) |
R383Q |
probably damaging |
Het |
| Ptpre |
T |
C |
7: 135,274,546 (GRCm39) |
I499T |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,140 (GRCm39) |
I544T |
probably damaging |
Het |
| Rbm20 |
A |
T |
19: 53,802,431 (GRCm39) |
Q313L |
possibly damaging |
Het |
| Rnf38 |
A |
T |
4: 44,149,182 (GRCm39) |
I55N |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,997,354 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
T |
C |
15: 83,491,617 (GRCm39) |
Y959C |
probably damaging |
Het |
| Selenow |
A |
G |
7: 15,654,051 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
T |
C |
5: 120,009,363 (GRCm39) |
Y291H |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,241,539 (GRCm39) |
M1022K |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,182,952 (GRCm39) |
R249W |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,587 (GRCm39) |
Q463R |
probably benign |
Het |
| Vps35 |
C |
A |
8: 86,001,526 (GRCm39) |
E431* |
probably null |
Het |
| Wdpcp |
T |
C |
11: 21,835,048 (GRCm39) |
C684R |
probably benign |
Het |
| Xirp2 |
G |
A |
2: 67,312,590 (GRCm39) |
V20I |
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation