Incidental Mutation 'R9654:Fkbp15'
| ID |
727253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp15
|
| Ensembl Gene |
ENSMUSG00000066151 |
| Gene Name |
FK506 binding protein 15 |
| Synonyms |
C430014M02Rik, FKBP133 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62230553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 720
(V720A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084527]
[ENSMUST00000084528]
|
| AlphaFold |
Q6P9Q6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084527
AA Change: V720A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: V720A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
190 |
286 |
4.8e-21 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
403 |
431 |
1.88e-10 |
PROSPERO |
|
internal_repeat_1
|
472 |
500 |
1.88e-10 |
PROSPERO |
|
coiled coil region
|
560 |
662 |
N/A |
INTRINSIC |
|
coiled coil region
|
684 |
790 |
N/A |
INTRINSIC |
|
coiled coil region
|
816 |
865 |
N/A |
INTRINSIC |
|
coiled coil region
|
916 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
952 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1045 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084528
AA Change: V720A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: V720A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
190 |
286 |
2.4e-21 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
403 |
431 |
2.74e-10 |
PROSPERO |
|
internal_repeat_1
|
472 |
500 |
2.74e-10 |
PROSPERO |
|
coiled coil region
|
560 |
662 |
N/A |
INTRINSIC |
|
coiled coil region
|
684 |
745 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,948,916 (GRCm39) |
S938P |
possibly damaging |
Het |
| Abca17 |
G |
T |
17: 24,536,099 (GRCm39) |
H523N |
probably benign |
Het |
| Alx1 |
T |
A |
10: 102,858,093 (GRCm39) |
H202L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,462,981 (GRCm39) |
H744L |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,511,018 (GRCm39) |
S450T |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,837 (GRCm39) |
L254P |
probably damaging |
Het |
| Arhgef25 |
C |
T |
10: 127,021,955 (GRCm39) |
S200N |
probably damaging |
Het |
| Arl4c |
G |
T |
1: 88,629,361 (GRCm39) |
S9* |
probably null |
Het |
| Bod1l |
A |
G |
5: 41,975,707 (GRCm39) |
M1869T |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,733,140 (GRCm39) |
P241L |
probably damaging |
Het |
| Cacng8 |
C |
T |
7: 3,443,002 (GRCm39) |
R88W |
probably damaging |
Het |
| Ccdc154 |
C |
T |
17: 25,386,684 (GRCm39) |
T262I |
possibly damaging |
Het |
| Clmn |
C |
A |
12: 104,748,193 (GRCm39) |
E451D |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,593,904 (GRCm39) |
I3416L |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,927,156 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,641,396 (GRCm39) |
K1175* |
probably null |
Het |
| Dock8 |
C |
T |
19: 25,124,710 (GRCm39) |
R1009W |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,579,532 (GRCm39) |
T891K |
probably damaging |
Het |
| Fryl |
G |
T |
5: 73,275,801 (GRCm39) |
P121Q |
probably benign |
Het |
| H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,604 (GRCm39) |
V115A |
possibly damaging |
Het |
| Heatr5a |
G |
A |
12: 52,005,778 (GRCm39) |
P66S |
probably damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,272,533 (GRCm39) |
D44G |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,497,182 (GRCm39) |
V41A |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,664,870 (GRCm39) |
K37M |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,101,266 (GRCm39) |
T1920A |
|
Het |
| Ltn1 |
G |
C |
16: 87,207,227 (GRCm39) |
D904E |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,986,166 (GRCm39) |
I893T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,013,430 (GRCm39) |
H49R |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Ncoa4 |
C |
A |
14: 31,896,465 (GRCm39) |
P230Q |
probably benign |
Het |
| Npy4r |
T |
A |
14: 33,869,081 (GRCm39) |
Q69L |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Nus1 |
T |
G |
10: 52,294,130 (GRCm39) |
L98R |
possibly damaging |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,071 (GRCm39) |
L146F |
probably benign |
Het |
| Or14c42-ps1 |
T |
A |
7: 86,210,950 (GRCm39) |
N3K |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,915 (GRCm39) |
T75A |
possibly damaging |
Het |
| Or4c11b |
T |
C |
2: 88,625,263 (GRCm39) |
L179S |
probably damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,752 (GRCm39) |
I61F |
probably benign |
Het |
| Pcdha11 |
A |
C |
18: 37,145,333 (GRCm39) |
T475P |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,010,827 (GRCm39) |
A384S |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,518,651 (GRCm39) |
D259V |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,166,028 (GRCm39) |
M52V |
probably benign |
Het |
| Rsph6a |
T |
A |
7: 18,799,332 (GRCm39) |
L321Q |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,522,656 (GRCm39) |
M452K |
probably damaging |
Het |
| Sult2a6 |
T |
G |
7: 13,956,445 (GRCm39) |
D272A |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,697 (GRCm39) |
L70Q |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,222,534 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmprss4 |
C |
T |
9: 45,090,700 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,764,887 (GRCm39) |
L709P |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,385,668 (GRCm39) |
T519M |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,217 (GRCm39) |
N461S |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,327 (GRCm39) |
V338A |
probably benign |
Het |
|
| Other mutations in Fkbp15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Fkbp15
|
APN |
4 |
62,251,917 (GRCm39) |
splice site |
probably benign |
|
|
IGL01326:Fkbp15
|
APN |
4 |
62,241,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01822:Fkbp15
|
APN |
4 |
62,270,741 (GRCm39) |
missense |
probably benign |
|
|
IGL01925:Fkbp15
|
APN |
4 |
62,241,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02190:Fkbp15
|
APN |
4 |
62,223,059 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02276:Fkbp15
|
APN |
4 |
62,254,703 (GRCm39) |
nonsense |
probably null |
|
|
IGL02310:Fkbp15
|
APN |
4 |
62,258,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02954:Fkbp15
|
APN |
4 |
62,239,302 (GRCm39) |
splice site |
probably benign |
|
|
IGL02967:Fkbp15
|
APN |
4 |
62,222,627 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03136:Fkbp15
|
APN |
4 |
62,258,466 (GRCm39) |
splice site |
probably benign |
|
|
IGL03185:Fkbp15
|
APN |
4 |
62,250,423 (GRCm39) |
splice site |
probably null |
|
|
IGL03280:Fkbp15
|
APN |
4 |
62,221,504 (GRCm39) |
unclassified |
probably benign |
|
|
dura
|
UTSW |
4 |
62,242,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
mater
|
UTSW |
4 |
62,244,373 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0419:Fkbp15
|
UTSW |
4 |
62,244,373 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0838:Fkbp15
|
UTSW |
4 |
62,242,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1241:Fkbp15
|
UTSW |
4 |
62,222,846 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1394:Fkbp15
|
UTSW |
4 |
62,246,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1622:Fkbp15
|
UTSW |
4 |
62,241,439 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1682:Fkbp15
|
UTSW |
4 |
62,242,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1823:Fkbp15
|
UTSW |
4 |
62,255,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Fkbp15
|
UTSW |
4 |
62,222,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2132:Fkbp15
|
UTSW |
4 |
62,246,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Fkbp15
|
UTSW |
4 |
62,246,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Fkbp15
|
UTSW |
4 |
62,230,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2938:Fkbp15
|
UTSW |
4 |
62,222,900 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3034:Fkbp15
|
UTSW |
4 |
62,225,129 (GRCm39) |
splice site |
probably null |
|
|
R3957:Fkbp15
|
UTSW |
4 |
62,252,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3963:Fkbp15
|
UTSW |
4 |
62,258,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Fkbp15
|
UTSW |
4 |
62,254,693 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4334:Fkbp15
|
UTSW |
4 |
62,221,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4366:Fkbp15
|
UTSW |
4 |
62,254,651 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4717:Fkbp15
|
UTSW |
4 |
62,226,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Fkbp15
|
UTSW |
4 |
62,226,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5075:Fkbp15
|
UTSW |
4 |
62,239,266 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5176:Fkbp15
|
UTSW |
4 |
62,230,560 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5419:Fkbp15
|
UTSW |
4 |
62,246,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5503:Fkbp15
|
UTSW |
4 |
62,246,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5731:Fkbp15
|
UTSW |
4 |
62,225,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5733:Fkbp15
|
UTSW |
4 |
62,225,166 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5820:Fkbp15
|
UTSW |
4 |
62,263,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5878:Fkbp15
|
UTSW |
4 |
62,225,145 (GRCm39) |
missense |
probably benign |
|
|
R5898:Fkbp15
|
UTSW |
4 |
62,244,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5914:Fkbp15
|
UTSW |
4 |
62,246,047 (GRCm39) |
splice site |
probably null |
|
|
R6113:Fkbp15
|
UTSW |
4 |
62,258,884 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6377:Fkbp15
|
UTSW |
4 |
62,242,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6427:Fkbp15
|
UTSW |
4 |
62,241,439 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6464:Fkbp15
|
UTSW |
4 |
62,226,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6528:Fkbp15
|
UTSW |
4 |
62,250,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6790:Fkbp15
|
UTSW |
4 |
62,222,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6880:Fkbp15
|
UTSW |
4 |
62,254,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6911:Fkbp15
|
UTSW |
4 |
62,258,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Fkbp15
|
UTSW |
4 |
62,239,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7410:Fkbp15
|
UTSW |
4 |
62,258,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Fkbp15
|
UTSW |
4 |
62,232,578 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7992:Fkbp15
|
UTSW |
4 |
62,230,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Fkbp15
|
UTSW |
4 |
62,230,521 (GRCm39) |
nonsense |
probably null |
|
|
R8697:Fkbp15
|
UTSW |
4 |
62,239,295 (GRCm39) |
nonsense |
probably null |
|
|
R8880:Fkbp15
|
UTSW |
4 |
62,232,602 (GRCm39) |
missense |
probably benign |
|
|
R8998:Fkbp15
|
UTSW |
4 |
62,242,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Fkbp15
|
UTSW |
4 |
62,254,664 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9382:Fkbp15
|
UTSW |
4 |
62,237,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0013:Fkbp15
|
UTSW |
4 |
62,230,607 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGAGGGCTAATGTGTTG -3'
(R):5'- GATTGGGCGATTAAAGCGTGC -3'
Sequencing Primer
(F):5'- CCTGAGGGCTAATGTGTTGTCTATAG -3'
(R):5'- CGTGCAACTTTGAAAGAGCTCCTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation