Incidental Mutation 'R6880:Fkbp15'
| ID |
536606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp15
|
| Ensembl Gene |
ENSMUSG00000066151 |
| Gene Name |
FK506 binding protein 15 |
| Synonyms |
C430014M02Rik, FKBP133 |
| MMRRC Submission |
044976-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6880 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62254732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 256
(I256N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084527]
[ENSMUST00000084528]
[ENSMUST00000098033]
[ENSMUST00000107461]
|
| AlphaFold |
Q6P9Q6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084527
AA Change: I256N
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: I256N
| 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 |
possibly damaging
Transcript: ENSMUST00000084528
AA Change: I256N
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: I256N
| 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 |
possibly damaging
Transcript: ENSMUST00000098033
AA Change: I256N
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: I256N
| 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 |
possibly damaging
Transcript: ENSMUST00000107461
AA Change: I256N
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: I256N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
A |
3: 36,123,854 (GRCm39) |
|
probably null |
Het |
| Aff3 |
T |
C |
1: 38,574,243 (GRCm39) |
H206R |
probably damaging |
Het |
| Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
| Alg5 |
A |
G |
3: 54,646,264 (GRCm39) |
E43G |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,578,748 (GRCm39) |
L4P |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,538,038 (GRCm39) |
I432V |
probably damaging |
Het |
| B230307C23Rik |
T |
C |
16: 97,798,627 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,743,283 (GRCm39) |
N1563Y |
probably damaging |
Het |
| Bhlha15 |
A |
T |
5: 144,128,451 (GRCm39) |
T188S |
probably damaging |
Het |
| Cbr3 |
T |
C |
16: 93,487,426 (GRCm39) |
V203A |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,486,739 (GRCm39) |
T266A |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,566,831 (GRCm39) |
Y681H |
probably damaging |
Het |
| Dock2 |
C |
T |
11: 34,579,279 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
T |
A |
18: 20,221,429 (GRCm39) |
D682V |
probably damaging |
Het |
| Foxd1 |
A |
C |
13: 98,491,225 (GRCm39) |
D33A |
unknown |
Het |
| Gid4 |
T |
A |
11: 60,327,261 (GRCm39) |
F149I |
probably damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,233,068 (GRCm39) |
V206L |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,726 (GRCm39) |
I135V |
|
Het |
| Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Impg1 |
T |
A |
9: 80,312,082 (GRCm39) |
D167V |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,967 (GRCm39) |
S372P |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,727 (GRCm39) |
T374A |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,714,032 (GRCm39) |
S305P |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,628,044 (GRCm39) |
T1179I |
possibly damaging |
Het |
| Mab21l2 |
A |
G |
3: 86,454,463 (GRCm39) |
I179T |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,855,501 (GRCm39) |
H1230L |
probably benign |
Het |
| Myocos |
T |
C |
1: 162,484,602 (GRCm39) |
|
probably null |
Het |
| Nipa2 |
T |
C |
7: 55,582,999 (GRCm39) |
T249A |
probably damaging |
Het |
| Oas1a |
C |
A |
5: 121,040,003 (GRCm39) |
R196L |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,019 (GRCm39) |
S217T |
probably damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,974 (GRCm39) |
I127V |
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,314,069 (GRCm39) |
F6L |
probably benign |
Het |
| Phxr2 |
G |
A |
10: 98,961,946 (GRCm39) |
|
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,802 (GRCm39) |
L85P |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,727,202 (GRCm39) |
D518V |
possibly damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,731,839 (GRCm39) |
K294E |
probably benign |
Het |
| Polr3d |
C |
A |
14: 70,677,455 (GRCm39) |
R307L |
probably benign |
Het |
| Pou5f2 |
T |
C |
13: 78,173,613 (GRCm39) |
L185P |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,202,608 (GRCm39) |
N506Y |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,385,260 (GRCm39) |
S381T |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,436 (GRCm39) |
V682A |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,988,211 (GRCm39) |
L428Q |
probably benign |
Het |
| Prss23 |
A |
G |
7: 89,160,033 (GRCm39) |
V12A |
probably benign |
Het |
| Qki |
T |
C |
17: 10,434,376 (GRCm39) |
D321G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,827 (GRCm39) |
L193P |
probably damaging |
Het |
| Retreg1 |
T |
G |
15: 25,971,825 (GRCm39) |
L245R |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,434,729 (GRCm39) |
N679S |
probably benign |
Het |
| Rpl4 |
C |
T |
9: 64,084,335 (GRCm39) |
A220V |
probably damaging |
Het |
| Rxra |
G |
A |
2: 27,638,668 (GRCm39) |
E224K |
possibly damaging |
Het |
| Slc26a7 |
A |
G |
4: 14,516,159 (GRCm39) |
C557R |
possibly damaging |
Het |
| Sncaip |
A |
G |
18: 53,002,136 (GRCm39) |
K219R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sphkap |
A |
G |
1: 83,234,978 (GRCm39) |
V1616A |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,912,979 (GRCm39) |
C738R |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,892,998 (GRCm39) |
C38* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,550,842 (GRCm39) |
T23190A |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,855 (GRCm39) |
D96G |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,860,500 (GRCm39) |
N289I |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,187 (GRCm39) |
S723T |
probably damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,134,770 (GRCm39) |
I63F |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,222,021 (GRCm39) |
N125S |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,033,548 (GRCm39) |
Y511C |
probably damaging |
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 |
|
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'- AACTCCAATGCCATTTTCAGAG -3'
(R):5'- ATGTGTCCATTCATCCATGTGC -3'
Sequencing Primer
(F):5'- GTGTGGTCAATACAAATCTGCACC -3'
(R):5'- GTGTCCATTCATCCATGTGCAAAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation