Incidental Mutation 'R6113:Fkbp15'
| ID |
484946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp15
|
| Ensembl Gene |
ENSMUSG00000066151 |
| Gene Name |
FK506 binding protein 15 |
| Synonyms |
C430014M02Rik, FKBP133 |
| MMRRC Submission |
044262-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6113 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62258884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 124
(T124I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084527]
[ENSMUST00000084528]
[ENSMUST00000098033]
[ENSMUST00000107461]
|
| AlphaFold |
Q6P9Q6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084527
AA Change: T124I
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: T124I
| 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: T124I
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: T124I
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098033
AA Change: T124I
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: T124I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
190 |
286 |
1.9e-21 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
403 |
431 |
1.79e-8 |
PROSPERO |
|
internal_repeat_1
|
472 |
500 |
1.79e-8 |
PROSPERO |
|
coiled coil region
|
560 |
608 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107461
AA Change: T124I
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: T124I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
68 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
190 |
286 |
2e-21 |
PFAM |
|
low complexity region
|
302 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
338 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
403 |
431 |
1.86e-8 |
PROSPERO |
|
internal_repeat_1
|
472 |
500 |
1.86e-8 |
PROSPERO |
|
coiled coil region
|
560 |
608 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131977
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
A |
16: 8,390,764 (GRCm39) |
T7N |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,343,998 (GRCm39) |
C359* |
probably null |
Het |
| Atpsckmt |
T |
C |
15: 31,608,308 (GRCm39) |
Y120H |
probably damaging |
Het |
| Bpifb6 |
G |
A |
2: 153,752,651 (GRCm39) |
E384K |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,941,841 (GRCm39) |
R544C |
probably damaging |
Het |
| Cilp2 |
T |
C |
8: 70,335,009 (GRCm39) |
D663G |
probably benign |
Het |
| Cplx3 |
T |
A |
9: 57,509,723 (GRCm39) |
I92F |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,813,719 (GRCm39) |
|
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,174 (GRCm39) |
F323I |
probably damaging |
Het |
| Dclk1 |
T |
C |
3: 55,397,240 (GRCm39) |
Y186H |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,900 (GRCm39) |
L261P |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,275,192 (GRCm39) |
S312P |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 118,017,101 (GRCm39) |
L213P |
probably damaging |
Het |
| Dnd1 |
T |
A |
18: 36,898,448 (GRCm39) |
Y102F |
probably damaging |
Het |
| Dnm1l |
T |
C |
16: 16,158,867 (GRCm39) |
N121S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,376,023 (GRCm39) |
N1269K |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,586,848 (GRCm39) |
V943A |
probably benign |
Het |
| Eml5 |
T |
A |
12: 98,790,933 (GRCm39) |
K1322* |
probably null |
Het |
| Fgf23 |
A |
G |
6: 127,055,117 (GRCm39) |
T76A |
probably benign |
Het |
| Fgf6 |
T |
C |
6: 126,992,900 (GRCm39) |
|
probably null |
Het |
| Gm12185 |
A |
T |
11: 48,806,167 (GRCm39) |
H341Q |
possibly damaging |
Het |
| Gm20647 |
A |
G |
5: 72,487,143 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
G |
C |
2: 69,313,901 (GRCm39) |
R2277G |
possibly damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,708,673 (GRCm39) |
T224A |
probably benign |
Het |
| Ly75 |
T |
G |
2: 60,199,217 (GRCm39) |
I175L |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,042 (GRCm39) |
Y243* |
probably null |
Het |
| Myo18b |
C |
G |
5: 113,014,251 (GRCm39) |
D764H |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,435,794 (GRCm39) |
S910G |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,261,422 (GRCm39) |
I21N |
possibly damaging |
Het |
| P3h2 |
A |
T |
16: 25,799,903 (GRCm39) |
I430K |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,124,544 (GRCm39) |
V542A |
probably damaging |
Het |
| Pkp3 |
T |
A |
7: 140,662,569 (GRCm39) |
N60K |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,187,124 (GRCm39) |
G686C |
probably damaging |
Het |
| Prdm6 |
T |
A |
18: 53,606,673 (GRCm39) |
L58Q |
probably damaging |
Het |
| Rab13 |
C |
A |
3: 90,132,173 (GRCm39) |
R86S |
probably benign |
Het |
| Rad21l |
A |
C |
2: 151,499,398 (GRCm39) |
L265V |
probably damaging |
Het |
| Rec8 |
G |
A |
14: 55,859,935 (GRCm39) |
A228T |
probably damaging |
Het |
| Rgs12 |
C |
A |
5: 35,177,667 (GRCm39) |
R76S |
probably damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,537,141 (GRCm39) |
N670D |
possibly damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,824,175 (GRCm39) |
T464A |
possibly damaging |
Het |
| Srcap |
C |
A |
7: 127,159,453 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,283,243 (GRCm39) |
|
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Thpo |
C |
A |
16: 20,547,597 (GRCm39) |
|
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,572,952 (GRCm39) |
|
probably null |
Het |
| Tnfrsf14 |
T |
C |
4: 155,008,949 (GRCm39) |
Q74R |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
G |
14: 53,887,182 (GRCm39) |
V34G |
probably benign |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,313 (GRCm39) |
A82V |
probably benign |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,176,844 (GRCm39) |
V408I |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,019,218 (GRCm39) |
V1068E |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,973,533 (GRCm39) |
S230P |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,811,810 (GRCm39) |
I46V |
probably null |
Het |
| Vav1 |
T |
A |
17: 57,608,884 (GRCm39) |
D349E |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,805,655 (GRCm39) |
R114* |
probably null |
Het |
| Vmn1r25 |
T |
C |
6: 57,955,557 (GRCm39) |
E244G |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,398,820 (GRCm39) |
T720A |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,059,923 (GRCm39) |
D444E |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,674,053 (GRCm39) |
M1701K |
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 |
|
|
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 |
|
R9654:Fkbp15
|
UTSW |
4 |
62,230,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0013:Fkbp15
|
UTSW |
4 |
62,230,607 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGAGCAGGATCCCTTCTC -3'
(R):5'- ATTCGAATTCAGTCTGGGCAG -3'
Sequencing Primer
(F):5'- ACCTCTTCCCTACACATTCCTAGGAG -3'
(R):5'- CGAATTCAGTCTGGGCAGGTTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation