Incidental Mutation 'R1254:Pank1'
| ID |
151401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pank1
|
| Ensembl Gene |
ENSMUSG00000033610 |
| Gene Name |
pantothenate kinase 1 |
| Synonyms |
4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1 |
| MMRRC Submission |
039321-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1254 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
34784340-34856855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34818260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 93
(H93R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036584]
[ENSMUST00000112460]
|
| AlphaFold |
Q8K4K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036584
AA Change: H268R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: H268R
| 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 benign
Transcript: ENSMUST00000112460
AA Change: H93R
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108079
Gene: ENSMUSG00000033610
AA Change: H93R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fumble
|
13 |
365 |
3.8e-122 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Coro2b |
A |
G |
9: 62,336,247 (GRCm39) |
L280P |
probably damaging |
Het |
| D430041D05Rik |
T |
G |
2: 104,031,648 (GRCm39) |
K1649N |
probably damaging |
Het |
| Duox2 |
T |
A |
2: 122,113,959 (GRCm39) |
H1191L |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,812,734 (GRCm39) |
T1430A |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,956,490 (GRCm39) |
Y1602C |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,953,823 (GRCm39) |
S180P |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Klhdc3 |
C |
T |
17: 46,988,993 (GRCm39) |
V66I |
probably benign |
Het |
| Or5p56 |
T |
A |
7: 107,589,647 (GRCm39) |
V25D |
probably benign |
Het |
| Pcdhb16 |
T |
G |
18: 37,612,348 (GRCm39) |
V436G |
possibly damaging |
Het |
| Plekha6 |
G |
A |
1: 133,200,327 (GRCm39) |
R302H |
probably benign |
Het |
| Ptk2 |
C |
T |
15: 73,101,819 (GRCm39) |
R797Q |
probably benign |
Het |
| Rnase10 |
A |
T |
14: 51,247,083 (GRCm39) |
M117L |
probably damaging |
Het |
| Rnf151 |
A |
T |
17: 24,936,526 (GRCm39) |
C20* |
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,136 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
G |
T |
12: 100,585,788 (GRCm39) |
H168Q |
probably damaging |
Het |
| Sstr1 |
G |
A |
12: 58,260,108 (GRCm39) |
V244M |
possibly damaging |
Het |
| Tmem147 |
A |
T |
7: 30,428,795 (GRCm39) |
Y17* |
probably null |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,772 (GRCm39) |
C163R |
probably damaging |
Het |
|
| Other mutations in Pank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01688:Pank1
|
APN |
19 |
34,818,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCCCAGGTCCCAAGGTTAATG -3'
(R):5'- TTGAACCGAAGGATATCACGGCAG -3'
Sequencing Primer
(F):5'- GTCCCAAGGTTAATGGTCCAG -3'
(R):5'- TATCACGGCAGAGGAAGAAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation