Incidental Mutation 'R6251:Pfkl'
ID |
506235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pfkl
|
Ensembl Gene |
ENSMUSG00000020277 |
Gene Name |
phosphofructokinase, liver, B-type |
Synonyms |
|
MMRRC Submission |
044368-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6251 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
77822781-77845641 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 77825399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020522
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020522]
[ENSMUST00000105397]
[ENSMUST00000105398]
|
AlphaFold |
P12382 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020522
|
SMART Domains |
Protein: ENSMUSP00000020522 Gene: ENSMUSG00000020277
Domain | Start | End | E-Value | Type |
Pfam:PFK
|
17 |
324 |
4.7e-109 |
PFAM |
Pfam:PFK
|
401 |
686 |
1.9e-98 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105397
|
SMART Domains |
Protein: ENSMUSP00000101036 Gene: ENSMUSG00000020284
Domain | Start | End | E-Value | Type |
LRRcap
|
104 |
122 |
3.42e-2 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
low complexity region
|
210 |
227 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105398
|
SMART Domains |
Protein: ENSMUSP00000101037 Gene: ENSMUSG00000020284
Domain | Start | End | E-Value | Type |
LRRcap
|
104 |
122 |
3.42e-2 |
SMART |
low complexity region
|
178 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136275
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149074
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149271
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,445 (GRCm39) |
S36P |
probably damaging |
Het |
Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
Arhgap26 |
A |
T |
18: 39,490,880 (GRCm39) |
S328C |
probably null |
Het |
Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
Asb3 |
G |
A |
11: 31,005,559 (GRCm39) |
A192T |
probably damaging |
Het |
Atp10b |
A |
T |
11: 43,126,573 (GRCm39) |
M1110L |
possibly damaging |
Het |
Cacna1i |
T |
C |
15: 80,220,883 (GRCm39) |
I175T |
probably damaging |
Het |
Car15 |
A |
T |
16: 17,655,227 (GRCm39) |
I71N |
probably benign |
Het |
Casq1 |
T |
A |
1: 172,044,407 (GRCm39) |
Y140F |
probably benign |
Het |
Ccdc93 |
C |
T |
1: 121,362,269 (GRCm39) |
T17M |
possibly damaging |
Het |
Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
Ciart |
G |
A |
3: 95,788,323 (GRCm39) |
|
probably benign |
Het |
Cul5 |
A |
T |
9: 53,558,094 (GRCm39) |
V170D |
probably benign |
Het |
Cyb5r3 |
T |
C |
15: 83,038,917 (GRCm39) |
D224G |
probably benign |
Het |
Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
Daglb |
T |
A |
5: 143,475,689 (GRCm39) |
L383Q |
probably damaging |
Het |
Dazap2 |
T |
G |
15: 100,514,864 (GRCm39) |
H28Q |
possibly damaging |
Het |
Dnttip2 |
A |
T |
3: 122,068,905 (GRCm39) |
D40V |
probably benign |
Het |
Dynlt2b |
T |
A |
16: 32,245,727 (GRCm39) |
D125E |
possibly damaging |
Het |
Epn1 |
G |
T |
7: 5,098,925 (GRCm39) |
D406Y |
probably damaging |
Het |
Epn1 |
G |
T |
7: 5,098,935 (GRCm39) |
R409L |
probably damaging |
Het |
Evc |
T |
C |
5: 37,457,843 (GRCm39) |
T966A |
probably benign |
Het |
Extl3 |
T |
C |
14: 65,314,375 (GRCm39) |
D269G |
probably damaging |
Het |
Gfra3 |
TGCGC |
TGC |
18: 34,828,864 (GRCm39) |
|
probably null |
Het |
Gpr87 |
A |
T |
3: 59,086,528 (GRCm39) |
F326I |
probably damaging |
Het |
Hivep3 |
C |
A |
4: 119,952,137 (GRCm39) |
P151H |
probably damaging |
Het |
Kcnj14 |
T |
A |
7: 45,467,440 (GRCm39) |
E302V |
probably damaging |
Het |
Kdm5d |
T |
C |
Y: 921,693 (GRCm39) |
Y534H |
probably damaging |
Homo |
Map3k5 |
T |
A |
10: 20,014,006 (GRCm39) |
|
probably null |
Het |
Mdn1 |
A |
G |
4: 32,748,590 (GRCm39) |
T4212A |
probably benign |
Het |
Ms4a6d |
A |
T |
19: 11,564,504 (GRCm39) |
S122R |
probably damaging |
Het |
Mtarc1 |
G |
A |
1: 184,527,648 (GRCm39) |
R271W |
probably damaging |
Het |
Nectin3 |
A |
T |
16: 46,215,513 (GRCm39) |
H76Q |
probably damaging |
Het |
Notch1 |
C |
A |
2: 26,364,182 (GRCm39) |
E846D |
possibly damaging |
Het |
Or1e23 |
A |
G |
11: 73,407,534 (GRCm39) |
S164P |
probably benign |
Het |
Or4a67 |
T |
C |
2: 88,598,632 (GRCm39) |
E9G |
probably damaging |
Het |
Or8b36 |
GTTT |
GTTTGCTTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
Or8b36 |
TT |
TTGCTGTGT |
9: 37,937,844 (GRCm39) |
|
probably null |
Het |
Or8b36 |
G |
GGGATTGC |
9: 37,937,833 (GRCm39) |
|
probably null |
Het |
Or8b36 |
TGTTT |
TGTTTGCAGTTT |
9: 37,937,841 (GRCm39) |
|
probably null |
Het |
Or8g18 |
T |
A |
9: 39,149,514 (GRCm39) |
I72F |
possibly damaging |
Het |
Pigz |
T |
C |
16: 31,764,424 (GRCm39) |
V494A |
possibly damaging |
Het |
Pik3r4 |
T |
C |
9: 105,531,247 (GRCm39) |
V516A |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,496,141 (GRCm39) |
R1104K |
probably benign |
Het |
Rap1a |
A |
T |
3: 105,639,311 (GRCm39) |
L116* |
probably null |
Het |
Rnf114 |
T |
C |
2: 167,356,649 (GRCm39) |
*230R |
probably null |
Het |
Rtl1 |
G |
T |
12: 109,560,083 (GRCm39) |
N585K |
probably benign |
Het |
Serpinb5 |
G |
T |
1: 106,802,795 (GRCm39) |
R110I |
possibly damaging |
Het |
Spink6 |
T |
C |
18: 44,207,498 (GRCm39) |
|
probably null |
Het |
Spopfm1 |
G |
T |
3: 94,173,208 (GRCm39) |
S72I |
probably damaging |
Het |
Stk39 |
A |
T |
2: 68,137,383 (GRCm39) |
|
probably null |
Het |
Tcstv2a |
T |
C |
13: 120,724,907 (GRCm39) |
|
probably benign |
Het |
Tcte1 |
A |
T |
17: 45,846,085 (GRCm39) |
T230S |
probably benign |
Het |
Tecpr1 |
C |
A |
5: 144,135,394 (GRCm39) |
V1020L |
probably damaging |
Het |
Tmc7 |
T |
C |
7: 118,160,261 (GRCm39) |
Y192C |
possibly damaging |
Het |
Trim63 |
A |
T |
4: 134,050,537 (GRCm39) |
T274S |
probably benign |
Het |
Wdr43 |
G |
A |
17: 71,957,048 (GRCm39) |
|
probably null |
Het |
Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
probably benign |
Het |
|
Other mutations in Pfkl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01306:Pfkl
|
APN |
10 |
77,827,229 (GRCm39) |
missense |
probably benign |
|
IGL01759:Pfkl
|
APN |
10 |
77,836,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02697:Pfkl
|
APN |
10 |
77,835,752 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02870:Pfkl
|
APN |
10 |
77,836,673 (GRCm39) |
nonsense |
probably null |
|
IGL02942:Pfkl
|
APN |
10 |
77,835,967 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02972:Pfkl
|
APN |
10 |
77,824,108 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03342:Pfkl
|
APN |
10 |
77,841,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
ANU23:Pfkl
|
UTSW |
10 |
77,827,229 (GRCm39) |
missense |
probably benign |
|
R0226:Pfkl
|
UTSW |
10 |
77,828,368 (GRCm39) |
missense |
probably benign |
0.00 |
R0743:Pfkl
|
UTSW |
10 |
77,831,077 (GRCm39) |
critical splice donor site |
probably null |
|
R0899:Pfkl
|
UTSW |
10 |
77,841,273 (GRCm39) |
critical splice donor site |
probably null |
|
R0926:Pfkl
|
UTSW |
10 |
77,836,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R1264:Pfkl
|
UTSW |
10 |
77,829,250 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1782:Pfkl
|
UTSW |
10 |
77,824,554 (GRCm39) |
missense |
probably benign |
0.00 |
R1918:Pfkl
|
UTSW |
10 |
77,837,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R3743:Pfkl
|
UTSW |
10 |
77,832,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R4559:Pfkl
|
UTSW |
10 |
77,824,717 (GRCm39) |
missense |
probably benign |
0.00 |
R4804:Pfkl
|
UTSW |
10 |
77,827,228 (GRCm39) |
missense |
probably benign |
|
R4823:Pfkl
|
UTSW |
10 |
77,833,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R4906:Pfkl
|
UTSW |
10 |
77,824,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R5082:Pfkl
|
UTSW |
10 |
77,832,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R5216:Pfkl
|
UTSW |
10 |
77,845,504 (GRCm39) |
missense |
probably damaging |
0.99 |
R5380:Pfkl
|
UTSW |
10 |
77,833,423 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5816:Pfkl
|
UTSW |
10 |
77,837,856 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5840:Pfkl
|
UTSW |
10 |
77,824,558 (GRCm39) |
missense |
probably benign |
|
R5888:Pfkl
|
UTSW |
10 |
77,827,204 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6143:Pfkl
|
UTSW |
10 |
77,825,447 (GRCm39) |
missense |
probably damaging |
0.96 |
R6152:Pfkl
|
UTSW |
10 |
77,825,985 (GRCm39) |
missense |
probably benign |
0.00 |
R6262:Pfkl
|
UTSW |
10 |
77,824,507 (GRCm39) |
critical splice donor site |
probably null |
|
R6382:Pfkl
|
UTSW |
10 |
77,835,671 (GRCm39) |
missense |
probably damaging |
0.98 |
R6407:Pfkl
|
UTSW |
10 |
77,824,507 (GRCm39) |
critical splice donor site |
probably null |
|
R6547:Pfkl
|
UTSW |
10 |
77,831,188 (GRCm39) |
missense |
probably benign |
|
R6704:Pfkl
|
UTSW |
10 |
77,832,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R6996:Pfkl
|
UTSW |
10 |
77,833,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R7116:Pfkl
|
UTSW |
10 |
77,837,249 (GRCm39) |
missense |
probably benign |
|
R7154:Pfkl
|
UTSW |
10 |
77,837,289 (GRCm39) |
missense |
probably benign |
0.41 |
R7183:Pfkl
|
UTSW |
10 |
77,837,916 (GRCm39) |
nonsense |
probably null |
|
R7248:Pfkl
|
UTSW |
10 |
77,825,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R7252:Pfkl
|
UTSW |
10 |
77,829,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Pfkl
|
UTSW |
10 |
77,827,857 (GRCm39) |
missense |
probably damaging |
0.99 |
R7974:Pfkl
|
UTSW |
10 |
77,829,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R8686:Pfkl
|
UTSW |
10 |
77,833,356 (GRCm39) |
critical splice donor site |
probably null |
|
R8900:Pfkl
|
UTSW |
10 |
77,836,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R9015:Pfkl
|
UTSW |
10 |
77,824,794 (GRCm39) |
missense |
probably damaging |
0.98 |
R9090:Pfkl
|
UTSW |
10 |
77,833,426 (GRCm39) |
missense |
probably benign |
0.28 |
R9257:Pfkl
|
UTSW |
10 |
77,825,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9271:Pfkl
|
UTSW |
10 |
77,833,426 (GRCm39) |
missense |
probably benign |
0.28 |
R9415:Pfkl
|
UTSW |
10 |
77,824,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R9439:Pfkl
|
UTSW |
10 |
77,831,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9486:Pfkl
|
UTSW |
10 |
77,824,184 (GRCm39) |
missense |
probably benign |
|
R9703:Pfkl
|
UTSW |
10 |
77,826,142 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0026:Pfkl
|
UTSW |
10 |
77,825,477 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Pfkl
|
UTSW |
10 |
77,835,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATGGGCCTCAGTCCTTTC -3'
(R):5'- AGGCTCCTATGGGTGATGAG -3'
Sequencing Primer
(F):5'- GAACAGTCAGTACCCCAGGG -3'
(R):5'- ACAGGACTGCGAGTTGCTG -3'
|
Posted On |
2018-03-15 |