Incidental Mutation 'R5166:Gk5'
| ID |
397310 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5166 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 96056821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 413
(A413S)
|
| 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: A413S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: A413S
| 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: A413S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: A413S
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,738,083 (GRCm39) |
T435A |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,438 (GRCm39) |
I38N |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,902,523 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,243,041 (GRCm39) |
E1197G |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,105 (GRCm39) |
N517K |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,338,966 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
G |
A |
1: 182,576,564 (GRCm39) |
Q42* |
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh10 |
A |
G |
15: 19,013,446 (GRCm39) |
E682G |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,738,330 (GRCm39) |
R456L |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,529,489 (GRCm39) |
R307H |
probably benign |
Het |
| Flt4 |
T |
C |
11: 49,524,084 (GRCm39) |
|
probably null |
Het |
| Fstl5 |
A |
C |
3: 76,536,267 (GRCm39) |
K26Q |
possibly damaging |
Het |
| Glcci1 |
T |
A |
6: 8,537,854 (GRCm39) |
S157R |
probably benign |
Het |
| Gzmc |
G |
A |
14: 56,471,433 (GRCm39) |
A36V |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,318,512 (GRCm39) |
N283S |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,249,774 (GRCm39) |
E2239G |
possibly damaging |
Het |
| Igkv10-95 |
A |
T |
6: 68,657,544 (GRCm39) |
Y20F |
probably benign |
Het |
| Il17re |
A |
G |
6: 113,439,923 (GRCm39) |
T181A |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,145 (GRCm39) |
A514T |
possibly damaging |
Het |
| Kcnk10 |
G |
A |
12: 98,401,254 (GRCm39) |
R460W |
probably damaging |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,721 (GRCm39) |
S320T |
unknown |
Het |
| Larp1b |
G |
T |
3: 40,918,487 (GRCm39) |
E24* |
probably null |
Het |
| Mettl22 |
A |
G |
16: 8,296,115 (GRCm39) |
T135A |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,070,581 (GRCm39) |
V378A |
probably benign |
Het |
| Mmrn1 |
A |
T |
6: 60,953,474 (GRCm39) |
H585L |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,278,279 (GRCm39) |
F1024L |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,926,874 (GRCm39) |
H776Q |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,875 (GRCm39) |
D372G |
possibly damaging |
Het |
| Nptn |
C |
T |
9: 58,526,263 (GRCm39) |
R137* |
probably null |
Het |
| Or9k2 |
T |
C |
10: 129,998,430 (GRCm39) |
Y255C |
possibly damaging |
Het |
| Pm20d2 |
C |
T |
4: 33,181,803 (GRCm39) |
V267I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,627 (GRCm39) |
D76G |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,418,303 (GRCm39) |
T41A |
possibly damaging |
Het |
| Rttn |
T |
C |
18: 89,031,218 (GRCm39) |
V643A |
possibly damaging |
Het |
| Sbno2 |
C |
A |
10: 79,902,762 (GRCm39) |
E421* |
probably null |
Het |
| Slc17a3 |
T |
C |
13: 24,026,525 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
T |
A |
10: 78,632,103 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,338,220 (GRCm39) |
S106P |
possibly damaging |
Het |
| Spef1 |
T |
C |
2: 131,016,511 (GRCm39) |
N28S |
probably damaging |
Het |
| Srebf2 |
C |
A |
15: 82,069,603 (GRCm39) |
T675N |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,500,216 (GRCm39) |
L1114H |
possibly damaging |
Het |
| Tex15 |
T |
C |
8: 34,066,420 (GRCm39) |
V1950A |
probably benign |
Het |
| Tnfsf9 |
T |
A |
17: 57,413,263 (GRCm39) |
F148Y |
possibly damaging |
Het |
| Traf6 |
A |
G |
2: 101,520,402 (GRCm39) |
D150G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,693,717 (GRCm39) |
Y262H |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,027 (GRCm39) |
Y386C |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,125 (GRCm39) |
E119V |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,842,100 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
A |
G |
6: 47,842,838 (GRCm39) |
I165V |
probably benign |
Het |
| Zfp850 |
A |
T |
7: 27,689,781 (GRCm39) |
C142* |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACACGATGGCTGAAGC -3'
(R):5'- TAATCCCTCAAGAGCTAGAGAGAAG -3'
Sequencing Primer
(F):5'- TCTAGACCAGTTGAGGCTACATG -3'
(R):5'- AAGGCTCAGAAGTTAAGAACATATAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation