Incidental Mutation 'R0419:Fkbp15'
| ID |
36914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp15
|
| Ensembl Gene |
ENSMUSG00000066151 |
| Gene Name |
FK506 binding protein 15 |
| Synonyms |
C430014M02Rik, FKBP133 |
| MMRRC Submission |
038621-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0419 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62244373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 472
(T472I)
|
| 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: T472I
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: T472I
| 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: T472I
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: T472I
| 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: T472I
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: T472I
| 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: T472I
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: T472I
| 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: ENSMUST00000139308
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
| 5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
| Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
| Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
| BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
| Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
| Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
| Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
| Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,861,307 (GRCm39) |
E164G |
probably damaging |
Het |
| Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
| Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
| Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,884,207 (GRCm39) |
I500V |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,225 (GRCm39) |
R224Q |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
| Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
| Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,463 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
| Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
| Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
| Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
| Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
| Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
| Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
| Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
| Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
| Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,519 (GRCm39) |
V32A |
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 |
|
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 |
|
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'- GTGGAGAGCTGTTGGAGGAAAA -3'
(R):5'- GCAGCAACCCAAGATTCCTGT -3'
Sequencing Primer
(F):5'- AACGAAAACAGAATGGGAGG -3'
(R):5'- TTCCTCTGGTTTTGGGTAGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation