Incidental Mutation 'R5218:Pank4'
| ID |
472449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pank4
|
| Ensembl Gene |
ENSMUSG00000029056 |
| Gene Name |
pantothenate kinase 4 |
| Synonyms |
D030031I12Rik |
| MMRRC Submission |
042791-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R5218 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155048580-155065395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155064185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 681
(T681I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030931]
[ENSMUST00000070953]
[ENSMUST00000105631]
[ENSMUST00000176194]
[ENSMUST00000135665]
[ENSMUST00000139976]
|
| AlphaFold |
Q80YV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030931
AA Change: T681I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056
AA Change: T681I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
Pfam:Fumble
|
35 |
369 |
1.5e-142 |
PFAM |
|
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
|
Pfam:DUF89
|
451 |
763 |
1.4e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070953
AA Change: T681I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056
AA Change: T681I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
Pfam:Fumble
|
36 |
367 |
1.8e-133 |
PFAM |
|
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
|
Pfam:DUF89
|
451 |
810 |
3.1e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105631
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
PH
|
122 |
231 |
1.8e-6 |
SMART |
|
EFh
|
247 |
275 |
7.29e-4 |
SMART |
|
EFh
|
283 |
312 |
4.67e-2 |
SMART |
|
Pfam:EF-hand_like
|
317 |
399 |
1.7e-26 |
PFAM |
|
PLCXc
|
400 |
545 |
6.76e-76 |
SMART |
|
low complexity region
|
559 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
676 |
N/A |
INTRINSIC |
|
PLCYc
|
707 |
821 |
1.25e-56 |
SMART |
|
C2
|
840 |
948 |
1.66e-21 |
SMART |
|
low complexity region
|
1088 |
1107 |
N/A |
INTRINSIC |
|
low complexity region
|
1227 |
1236 |
N/A |
INTRINSIC |
|
low complexity region
|
1356 |
1369 |
N/A |
INTRINSIC |
|
low complexity region
|
1421 |
1451 |
N/A |
INTRINSIC |
|
low complexity region
|
1454 |
1466 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124517
|
| SMART Domains |
Protein: ENSMUSP00000122139
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
77 |
1.58e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148934
|
| SMART Domains |
Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fumble
|
1 |
225 |
2.6e-103 |
PFAM |
|
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
|
Pfam:DUF89
|
309 |
472 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176194
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
21 |
130 |
1.8e-6 |
SMART |
|
EFh
|
146 |
174 |
7.29e-4 |
SMART |
|
EFh
|
182 |
211 |
4.67e-2 |
SMART |
|
Pfam:EF-hand_like
|
216 |
298 |
1.6e-25 |
PFAM |
|
PLCXc
|
299 |
444 |
6.76e-76 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
575 |
N/A |
INTRINSIC |
|
PLCYc
|
606 |
720 |
1.25e-56 |
SMART |
|
C2
|
739 |
847 |
1.66e-21 |
SMART |
|
low complexity region
|
986 |
999 |
N/A |
INTRINSIC |
|
low complexity region
|
1065 |
1093 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135665
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
17 |
126 |
1.8e-6 |
SMART |
|
EFh
|
142 |
170 |
7.29e-4 |
SMART |
|
EFh
|
178 |
207 |
4.67e-2 |
SMART |
|
Pfam:EF-hand_like
|
212 |
294 |
2.8e-25 |
PFAM |
|
PLCXc
|
295 |
440 |
6.76e-76 |
SMART |
|
low complexity region
|
454 |
467 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
571 |
N/A |
INTRINSIC |
|
PLCYc
|
602 |
716 |
1.25e-56 |
SMART |
|
C2
|
735 |
843 |
1.66e-21 |
SMART |
|
low complexity region
|
983 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1122 |
1131 |
N/A |
INTRINSIC |
|
low complexity region
|
1251 |
1264 |
N/A |
INTRINSIC |
|
low complexity region
|
1316 |
1346 |
N/A |
INTRINSIC |
|
low complexity region
|
1349 |
1361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139976
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
PH
|
122 |
231 |
1.8e-6 |
SMART |
|
EFh
|
247 |
275 |
7.29e-4 |
SMART |
|
EFh
|
283 |
312 |
4.67e-2 |
SMART |
|
Pfam:EF-hand_like
|
317 |
399 |
3.2e-27 |
PFAM |
|
PLCXc
|
400 |
545 |
6.76e-76 |
SMART |
|
low complexity region
|
559 |
572 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
676 |
N/A |
INTRINSIC |
|
PLCYc
|
707 |
821 |
1.25e-56 |
SMART |
|
C2
|
840 |
948 |
1.66e-21 |
SMART |
|
low complexity region
|
1087 |
1100 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175982
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,629,628 (GRCm39) |
N230K |
possibly damaging |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| Albfm1 |
A |
G |
5: 90,729,777 (GRCm39) |
K400R |
probably benign |
Het |
| Amigo1 |
A |
G |
3: 108,095,086 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
A |
T |
1: 171,236,328 (GRCm39) |
T901S |
probably benign |
Het |
| Arpp21 |
T |
C |
9: 111,972,499 (GRCm39) |
D264G |
probably damaging |
Het |
| Ccbe1 |
C |
T |
18: 66,216,229 (GRCm39) |
G165S |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,816,585 (GRCm39) |
D1786G |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,237,430 (GRCm39) |
L1008P |
unknown |
Het |
| Dclk2 |
T |
A |
3: 86,712,985 (GRCm39) |
D489V |
probably damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,177 (GRCm39) |
D259E |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,327,333 (GRCm39) |
S1184G |
possibly damaging |
Het |
| Dync1li2 |
C |
T |
8: 105,169,179 (GRCm39) |
W36* |
probably null |
Het |
| Ece2 |
A |
T |
16: 20,437,290 (GRCm39) |
M211L |
probably benign |
Het |
| Edn3 |
C |
T |
2: 174,603,345 (GRCm39) |
A31V |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,750,982 (GRCm39) |
Q266R |
possibly damaging |
Het |
| Fabp1 |
C |
A |
6: 71,176,944 (GRCm39) |
Q12K |
probably damaging |
Het |
| Flt1 |
G |
A |
5: 147,618,738 (GRCm39) |
T199M |
probably damaging |
Het |
| Galns |
T |
A |
8: 123,325,328 (GRCm39) |
I275F |
probably damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
| Gatb |
A |
G |
3: 85,511,751 (GRCm39) |
I169V |
probably benign |
Het |
| Gpd1 |
T |
A |
15: 99,618,011 (GRCm39) |
I109N |
probably damaging |
Het |
| Gps2 |
T |
C |
11: 69,807,121 (GRCm39) |
|
probably null |
Het |
| Hsd17b12 |
T |
C |
2: 93,913,608 (GRCm39) |
N99D |
probably benign |
Het |
| Itga3 |
A |
T |
11: 94,953,574 (GRCm39) |
V256E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,513,253 (GRCm39) |
Y527F |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,384,488 (GRCm39) |
E3580D |
probably damaging |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Medag |
A |
T |
5: 149,345,719 (GRCm39) |
|
probably benign |
Het |
| Ncdn |
C |
A |
4: 126,644,603 (GRCm39) |
R73L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,170,034 (GRCm39) |
V339A |
probably benign |
Het |
| Ocln |
G |
T |
13: 100,642,822 (GRCm39) |
P420Q |
probably damaging |
Het |
| Or5ac24 |
A |
T |
16: 59,165,270 (GRCm39) |
S265T |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,467,388 (GRCm39) |
V103E |
possibly damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,675,036 (GRCm39) |
F469S |
probably benign |
Het |
| Phrf1 |
A |
G |
7: 140,841,214 (GRCm39) |
N1353S |
possibly damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,326,586 (GRCm39) |
I72T |
probably damaging |
Het |
| Ppig |
T |
C |
2: 69,563,127 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,600,919 (GRCm39) |
S153G |
probably benign |
Het |
| Rab11b |
T |
C |
17: 33,967,924 (GRCm39) |
N91S |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Slc2a9 |
A |
G |
5: 38,610,524 (GRCm39) |
S92P |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,575,002 (GRCm39) |
|
probably null |
Het |
| Sox5 |
T |
C |
6: 143,906,616 (GRCm39) |
I280V |
possibly damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 112,029,909 (GRCm39) |
|
probably benign |
Het |
| Tmem273 |
T |
A |
14: 32,538,793 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,730,640 (GRCm39) |
N134K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Txnl1 |
T |
G |
18: 63,812,538 (GRCm39) |
K85N |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,451,341 (GRCm39) |
M409K |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,274,812 (GRCm39) |
D53G |
probably damaging |
Het |
| Wnt10a |
G |
A |
1: 74,832,754 (GRCm39) |
V116I |
probably benign |
Het |
| Xpot |
T |
A |
10: 121,455,043 (GRCm39) |
D33V |
probably damaging |
Het |
| Znrf3 |
C |
T |
11: 5,231,519 (GRCm39) |
V665M |
possibly damaging |
Het |
|
| Other mutations in Pank4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Pank4
|
APN |
4 |
155,065,059 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01105:Pank4
|
APN |
4 |
155,056,922 (GRCm39) |
splice site |
probably benign |
|
|
IGL01291:Pank4
|
APN |
4 |
155,059,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01935:Pank4
|
APN |
4 |
155,063,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02366:Pank4
|
APN |
4 |
155,054,085 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02514:Pank4
|
APN |
4 |
155,054,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03028:Pank4
|
APN |
4 |
155,054,442 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03033:Pank4
|
APN |
4 |
155,059,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Pank4
|
UTSW |
4 |
155,059,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0518:Pank4
|
UTSW |
4 |
155,061,082 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1196:Pank4
|
UTSW |
4 |
155,062,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1566:Pank4
|
UTSW |
4 |
155,064,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1581:Pank4
|
UTSW |
4 |
155,059,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Pank4
|
UTSW |
4 |
155,054,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Pank4
|
UTSW |
4 |
155,060,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Pank4
|
UTSW |
4 |
155,056,977 (GRCm39) |
missense |
probably benign |
|
|
R2943:Pank4
|
UTSW |
4 |
155,055,931 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3911:Pank4
|
UTSW |
4 |
155,054,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4162:Pank4
|
UTSW |
4 |
155,064,051 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4404:Pank4
|
UTSW |
4 |
155,064,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4619:Pank4
|
UTSW |
4 |
155,061,076 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4731:Pank4
|
UTSW |
4 |
155,055,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Pank4
|
UTSW |
4 |
155,055,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4733:Pank4
|
UTSW |
4 |
155,055,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4747:Pank4
|
UTSW |
4 |
155,063,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4760:Pank4
|
UTSW |
4 |
155,059,091 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5278:Pank4
|
UTSW |
4 |
155,056,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Pank4
|
UTSW |
4 |
155,065,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Pank4
|
UTSW |
4 |
155,061,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Pank4
|
UTSW |
4 |
155,056,693 (GRCm39) |
splice site |
probably null |
|
|
R7105:Pank4
|
UTSW |
4 |
155,064,624 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7253:Pank4
|
UTSW |
4 |
155,055,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7481:Pank4
|
UTSW |
4 |
155,054,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Pank4
|
UTSW |
4 |
155,065,007 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7718:Pank4
|
UTSW |
4 |
155,059,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Pank4
|
UTSW |
4 |
155,054,204 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8144:Pank4
|
UTSW |
4 |
155,054,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8967:Pank4
|
UTSW |
4 |
155,055,415 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9012:Pank4
|
UTSW |
4 |
155,062,847 (GRCm39) |
unclassified |
probably benign |
|
|
R9040:Pank4
|
UTSW |
4 |
155,064,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9478:Pank4
|
UTSW |
4 |
155,064,565 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pank4
|
UTSW |
4 |
155,059,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1177:Pank4
|
UTSW |
4 |
155,059,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCTTGGCATGCAACTCAG -3'
(R):5'- CCCTACAGGCTACAGGAAGAAG -3'
Sequencing Primer
(F):5'- ACGATGTGACCTACAGTGAGTCTC -3'
(R):5'- CTACAGGAAGAAGTGGCCAC -3'
|
| Posted On |
2017-04-03 |
Incidental Mutation