Incidental Mutation 'R1622:Fkbp15'
| ID |
174694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fkbp15
|
| Ensembl Gene |
ENSMUSG00000066151 |
| Gene Name |
FK506 binding protein 15 |
| Synonyms |
C430014M02Rik, FKBP133 |
| MMRRC Submission |
039659-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
62218579-62278785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62241439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 569
(I569F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084527]
[ENSMUST00000084528]
[ENSMUST00000098033]
[ENSMUST00000107461]
|
| AlphaFold |
Q6P9Q6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084527
AA Change: I569F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: I569F
| 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: I569F
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: I569F
| 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: I569F
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: I569F
| 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: I569F
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: I569F
| 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 |
0.0636 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,790,412 (GRCm39) |
S19C |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,491,272 (GRCm39) |
D374E |
possibly damaging |
Het |
| Atf2 |
A |
G |
2: 73,684,133 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
A |
G |
9: 47,725,139 (GRCm39) |
N300S |
probably benign |
Het |
| Ccdc159 |
A |
T |
9: 21,840,666 (GRCm39) |
I78F |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,530,885 (GRCm39) |
I589T |
possibly damaging |
Het |
| Clstn1 |
T |
C |
4: 149,713,864 (GRCm39) |
I182T |
probably damaging |
Het |
| Cnga3 |
T |
A |
1: 37,283,909 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
A |
4: 84,981,418 (GRCm39) |
S865R |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,683,516 (GRCm39) |
G1552E |
unknown |
Het |
| Col6a4 |
A |
C |
9: 105,874,334 (GRCm39) |
S2218A |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,878,910 (GRCm39) |
T527A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,729,329 (GRCm39) |
S484P |
possibly damaging |
Het |
| Glce |
T |
C |
9: 61,977,843 (GRCm39) |
I14V |
possibly damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,265 (GRCm39) |
Q78L |
probably damaging |
Het |
| Gpn1 |
A |
G |
5: 31,660,748 (GRCm39) |
T180A |
possibly damaging |
Het |
| Gpr6 |
A |
T |
10: 40,947,288 (GRCm39) |
I98N |
probably damaging |
Het |
| Hcrtr2 |
T |
C |
9: 76,230,722 (GRCm39) |
N22S |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 107,041,389 (GRCm39) |
V665I |
possibly damaging |
Het |
| Il4ra |
T |
A |
7: 125,169,225 (GRCm39) |
I159N |
possibly damaging |
Het |
| Irf8 |
G |
C |
8: 121,466,561 (GRCm39) |
C2S |
possibly damaging |
Het |
| Itih2 |
A |
T |
2: 10,106,890 (GRCm39) |
N701K |
probably benign |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Mmp10 |
T |
A |
9: 7,504,996 (GRCm39) |
Y263* |
probably null |
Het |
| Morc3 |
T |
A |
16: 93,671,694 (GRCm39) |
M835K |
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
| Ncbp1 |
A |
G |
4: 46,171,963 (GRCm39) |
H777R |
possibly damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,710,182 (GRCm39) |
M514T |
probably damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,439,302 (GRCm39) |
I293N |
probably damaging |
Het |
| Pank2 |
A |
T |
2: 131,115,889 (GRCm39) |
E102D |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,754,505 (GRCm39) |
D175G |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 94,123,311 (GRCm39) |
D953G |
probably benign |
Het |
| Pibf1 |
G |
A |
14: 99,423,917 (GRCm39) |
V497I |
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,800,614 (GRCm39) |
M3085I |
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,248 (GRCm39) |
C143S |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,765,829 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spag7 |
T |
A |
11: 70,555,688 (GRCm39) |
D73V |
probably damaging |
Het |
| Sult3a1 |
A |
T |
10: 33,746,246 (GRCm39) |
M189L |
probably benign |
Het |
| Syt4 |
T |
C |
18: 31,577,069 (GRCm39) |
D95G |
probably damaging |
Het |
| Tbc1d8 |
A |
C |
1: 39,419,317 (GRCm39) |
S766A |
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,710,796 (GRCm39) |
M39L |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,155,955 (GRCm39) |
N797S |
possibly damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,545 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 38,009,357 (GRCm39) |
|
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,756,363 (GRCm39) |
N690S |
probably benign |
Het |
| Zfp445 |
A |
G |
9: 122,681,614 (GRCm39) |
Y776H |
possibly damaging |
Het |
| Zfp52 |
G |
A |
17: 21,781,833 (GRCm39) |
M560I |
probably benign |
Het |
| Zfp608 |
A |
G |
18: 55,121,366 (GRCm39) |
S74P |
probably benign |
Het |
| Zfp629 |
A |
G |
7: 127,211,012 (GRCm39) |
C266R |
probably damaging |
Het |
| Zscan2 |
A |
G |
7: 80,525,134 (GRCm39) |
K285R |
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 |
|
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'- CACTAGGCTAGATAGGCTGAGGACTG -3'
(R):5'- GGTCCTGGGTGACTTGTATTCTCCAC -3'
Sequencing Primer
(F):5'- tctccactccactaccactc -3'
(R):5'- GGGTGACTTGTATTCTCCACTAAAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation