Incidental Mutation 'IGL01688:Pank1'
| ID |
104025 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pank1
|
| Ensembl Gene |
ENSMUSG00000033610 |
| Gene Name |
pantothenate kinase 1 |
| Synonyms |
4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL01688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
34784340-34856855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34818252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 96
(I96F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036584]
[ENSMUST00000112460]
|
| AlphaFold |
Q8K4K6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036584
AA Change: I271F
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: I271F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
147 |
N/A |
INTRINSIC |
|
Pfam:Fumble
|
188 |
540 |
1.6e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112460
AA Change: I96F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108079
Gene: ENSMUSG00000033610
AA Change: I96F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fumble
|
13 |
365 |
3.8e-122 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
| Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
| Cpne2 |
A |
G |
8: 95,281,381 (GRCm39) |
T196A |
possibly damaging |
Het |
| Cul4a |
A |
T |
8: 13,196,571 (GRCm39) |
R742* |
probably null |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
| Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
| Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
| Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,932 (GRCm39) |
D12V |
possibly damaging |
Het |
| Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
| Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
| Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
| Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
| Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
| Nepro |
T |
C |
16: 44,556,369 (GRCm39) |
L509P |
probably damaging |
Het |
| Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
| Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,501,969 (GRCm39) |
V117E |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
| Rcor3 |
T |
A |
1: 191,807,900 (GRCm39) |
E20V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
| Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
| Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
| Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
| Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
T |
C |
7: 55,464,766 (GRCm39) |
V549A |
possibly damaging |
Het |
| Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
| Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
probably benign |
Het |
|
| Other mutations in Pank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02266:Pank1
|
APN |
19 |
34,791,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL02814:Pank1
|
APN |
19 |
34,818,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03029:Pank1
|
APN |
19 |
34,798,535 (GRCm39) |
missense |
probably damaging |
0.96 |
|
snowleopard
|
UTSW |
19 |
34,789,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Pank1
|
UTSW |
19 |
34,818,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Pank1
|
UTSW |
19 |
34,799,106 (GRCm39) |
splice site |
probably benign |
|
|
R1254:Pank1
|
UTSW |
19 |
34,818,260 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1820:Pank1
|
UTSW |
19 |
34,855,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1928:Pank1
|
UTSW |
19 |
34,856,281 (GRCm39) |
missense |
probably benign |
|
|
R2117:Pank1
|
UTSW |
19 |
34,818,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Pank1
|
UTSW |
19 |
34,856,380 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2147:Pank1
|
UTSW |
19 |
34,804,754 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2226:Pank1
|
UTSW |
19 |
34,804,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4363:Pank1
|
UTSW |
19 |
34,804,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4376:Pank1
|
UTSW |
19 |
34,855,104 (GRCm39) |
missense |
probably benign |
|
|
R5081:Pank1
|
UTSW |
19 |
34,856,316 (GRCm39) |
missense |
probably benign |
|
|
R5172:Pank1
|
UTSW |
19 |
34,818,202 (GRCm39) |
nonsense |
probably null |
|
|
R6706:Pank1
|
UTSW |
19 |
34,789,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Pank1
|
UTSW |
19 |
34,818,422 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7637:Pank1
|
UTSW |
19 |
34,799,388 (GRCm39) |
splice site |
probably null |
|
|
R7957:Pank1
|
UTSW |
19 |
34,791,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Pank1
|
UTSW |
19 |
34,856,055 (GRCm39) |
missense |
probably benign |
|
|
R8725:Pank1
|
UTSW |
19 |
34,855,989 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8893:Pank1
|
UTSW |
19 |
34,804,903 (GRCm39) |
intron |
probably benign |
|
|
R9193:Pank1
|
UTSW |
19 |
34,804,634 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9235:Pank1
|
UTSW |
19 |
34,856,197 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9664:Pank1
|
UTSW |
19 |
34,799,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2014-01-21 |
Incidental Mutation