Incidental Mutation 'R6109:Gk5'
| ID |
484726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gk5
|
| Ensembl Gene |
ENSMUSG00000041440 |
| Gene Name |
glycerol kinase 5 |
| Synonyms |
G630067D24Rik, C330018K18Rik |
| MMRRC Submission |
044259-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
96001415-96066661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96022663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 166
(F166L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085217]
[ENSMUST00000122383]
[ENSMUST00000129774]
|
| AlphaFold |
Q8BX05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085217
AA Change: F166L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000082313
Gene: ENSMUSG00000041440
AA Change: F166L
| 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 benign
Transcript: ENSMUST00000122383
AA Change: F166L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112717
Gene: ENSMUSG00000041440
AA Change: F166L
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,303 (GRCm39) |
Y950C |
probably benign |
Het |
| Acadm |
A |
G |
3: 153,647,580 (GRCm39) |
C20R |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,621,560 (GRCm39) |
T984K |
probably damaging |
Het |
| Agxt2 |
C |
T |
15: 10,377,508 (GRCm39) |
T136I |
probably damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,941 (GRCm39) |
N68K |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,143,340 (GRCm39) |
D10V |
possibly damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,437 (GRCm39) |
I235F |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,171,407 (GRCm39) |
W1396R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,525,343 (GRCm39) |
T513A |
probably benign |
Het |
| Aym1 |
C |
T |
5: 113,505,407 (GRCm39) |
L9F |
unknown |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Camk2a |
A |
T |
18: 61,076,306 (GRCm39) |
K95* |
probably null |
Het |
| Ccdc40 |
T |
C |
11: 119,122,804 (GRCm39) |
V202A |
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,045 (GRCm39) |
D152E |
probably benign |
Het |
| Cd2bp2 |
C |
T |
7: 126,793,987 (GRCm39) |
D101N |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 104,921,739 (GRCm39) |
D679N |
probably damaging |
Het |
| Clpx |
C |
T |
9: 65,207,234 (GRCm39) |
T44I |
probably benign |
Het |
| Cnnm4 |
T |
G |
1: 36,537,560 (GRCm39) |
V541G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,249,874 (GRCm39) |
I1035V |
possibly damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,147 (GRCm39) |
S62G |
probably benign |
Het |
| Dlk2 |
T |
A |
17: 46,612,623 (GRCm39) |
Y109N |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,807,955 (GRCm39) |
V363M |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,439,907 (GRCm39) |
|
probably null |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxl3 |
C |
A |
5: 138,805,850 (GRCm39) |
Q6K |
probably damaging |
Het |
| Gm11271 |
G |
T |
13: 21,565,309 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
A |
3: 108,007,451 (GRCm39) |
Y290N |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,913 (GRCm39) |
I148F |
probably damaging |
Het |
| Hdac2 |
A |
G |
10: 36,862,385 (GRCm39) |
D83G |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 921,501 (GRCm39) |
W500R |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,665,796 (GRCm39) |
F489I |
probably benign |
Het |
| Kmo |
C |
A |
1: 175,465,474 (GRCm39) |
A76E |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,978,791 (GRCm39) |
T88A |
probably benign |
Het |
| Lce3b |
A |
G |
3: 92,840,994 (GRCm39) |
T30A |
unknown |
Het |
| Lcn11 |
A |
G |
2: 25,669,308 (GRCm39) |
H155R |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,889,481 (GRCm39) |
I129N |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,031,993 (GRCm39) |
K3E |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,429 (GRCm39) |
T229M |
probably damaging |
Het |
| Ms4a20 |
T |
C |
19: 11,079,276 (GRCm39) |
M131V |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,655 (GRCm39) |
I1955V |
unknown |
Het |
| Naip1 |
A |
G |
13: 100,563,690 (GRCm39) |
C492R |
probably damaging |
Het |
| Ncor2 |
C |
T |
5: 125,132,910 (GRCm39) |
A26T |
probably damaging |
Het |
| Ngfr |
T |
G |
11: 95,468,883 (GRCm39) |
D165A |
probably damaging |
Het |
| Nobox |
A |
T |
6: 43,282,103 (GRCm39) |
S323R |
probably damaging |
Het |
| Or51ac3 |
T |
C |
7: 103,214,346 (GRCm39) |
I47V |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,492 (GRCm39) |
S157P |
probably benign |
Het |
| Pcdhb1 |
G |
T |
18: 37,398,306 (GRCm39) |
V86F |
possibly damaging |
Het |
| Pdk1 |
A |
G |
2: 71,713,850 (GRCm39) |
E165G |
probably benign |
Het |
| Peak1 |
C |
T |
9: 56,166,567 (GRCm39) |
V454I |
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,482,360 (GRCm39) |
G125D |
probably damaging |
Het |
| S100a16 |
T |
C |
3: 90,449,381 (GRCm39) |
F19L |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,788,388 (GRCm39) |
K190E |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,274,799 (GRCm39) |
M12K |
probably damaging |
Het |
| Tex101 |
T |
C |
7: 24,367,738 (GRCm39) |
T205A |
possibly damaging |
Het |
| Tssk5 |
T |
C |
15: 76,257,916 (GRCm39) |
E147G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,144,675 (GRCm39) |
T1495A |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,638 (GRCm39) |
|
probably null |
Het |
| Zfp811 |
T |
A |
17: 33,016,348 (GRCm39) |
|
probably null |
Het |
| Zscan10 |
T |
A |
17: 23,826,103 (GRCm39) |
F88L |
probably damaging |
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 |
|
|
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 |
|
|
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'- ACTCCATAAGTTCAATGCCAGC -3'
(R):5'- CAGGAACCAATTGAAAACTCTGTCTTC -3'
Sequencing Primer
(F):5'- GCCAGGACTACATAGTTATACCCTG -3'
(R):5'- GAAAACTCTGTCTTCTAGCCCAGGAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation