Incidental Mutation 'R6371:Fyb2'
| ID |
513512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fyb2
|
| Ensembl Gene |
ENSMUSG00000078612 |
| Gene Name |
FYN binding protein 2 |
| Synonyms |
1700024P16Rik |
| MMRRC Submission |
044521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R6371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104852975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 552
(T552A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106803]
[ENSMUST00000106804]
|
| AlphaFold |
A2A995 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106803
AA Change: T552A
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102415
Gene: ENSMUSG00000078612
AA Change: T552A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
537 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
697 |
N/A |
INTRINSIC |
|
SH3
|
735 |
791 |
3.82e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106804
AA Change: T488A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102416
Gene: ENSMUSG00000078612
AA Change: T488A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
633 |
N/A |
INTRINSIC |
|
SH3
|
671 |
727 |
3.82e0 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,894 (GRCm39) |
S237L |
probably damaging |
Het |
| Ank3 |
T |
G |
10: 69,644,709 (GRCm39) |
L58V |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,926,574 (GRCm39) |
I115F |
possibly damaging |
Het |
| Atad2b |
T |
C |
12: 5,023,970 (GRCm39) |
Y32H |
probably damaging |
Het |
| Brd1 |
A |
C |
15: 88,598,201 (GRCm39) |
M515R |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,803,023 (GRCm39) |
S30P |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,136,114 (GRCm39) |
T1123A |
unknown |
Het |
| Cep170b |
A |
G |
12: 112,707,379 (GRCm39) |
D375G |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,369 (GRCm39) |
K164E |
probably benign |
Het |
| Clip4 |
A |
C |
17: 72,163,459 (GRCm39) |
K677T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,617,540 (GRCm39) |
I137T |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,802,816 (GRCm39) |
S39P |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,143,353 (GRCm39) |
N1318K |
probably benign |
Het |
| Emc1 |
C |
T |
4: 139,098,976 (GRCm39) |
Q820* |
probably null |
Het |
| Fbxl2 |
G |
A |
9: 113,818,451 (GRCm39) |
T170I |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,762,358 (GRCm39) |
V257A |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,006 (GRCm39) |
Y2213H |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,184,986 (GRCm39) |
Y24H |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Itgb2 |
C |
A |
10: 77,384,431 (GRCm39) |
P184H |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,781,436 (GRCm39) |
D769E |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,741,666 (GRCm39) |
M3087T |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,795,800 (GRCm39) |
|
probably null |
Het |
| Ms4a6b |
A |
G |
19: 11,497,728 (GRCm39) |
E9G |
probably damaging |
Het |
| Nat3 |
G |
A |
8: 67,976,831 (GRCm39) |
|
probably null |
Het |
| Ndufaf1 |
A |
T |
2: 119,490,534 (GRCm39) |
D175E |
probably damaging |
Het |
| Nop58 |
T |
G |
1: 59,750,471 (GRCm39) |
|
probably benign |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,211,219 (GRCm39) |
Y71H |
possibly damaging |
Het |
| P3h4 |
C |
T |
11: 100,302,575 (GRCm39) |
E354K |
probably benign |
Het |
| Plekhm2 |
T |
G |
4: 141,356,843 (GRCm39) |
T787P |
possibly damaging |
Het |
| Ppia |
C |
T |
11: 6,368,230 (GRCm39) |
T37I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,200,511 (GRCm39) |
M1330L |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,539,426 (GRCm39) |
E53G |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,823,482 (GRCm39) |
V721E |
probably damaging |
Het |
| Slc33a1 |
A |
T |
3: 63,850,709 (GRCm39) |
D538E |
probably benign |
Het |
| Son |
T |
C |
16: 91,471,629 (GRCm39) |
|
|
Het |
| Srebf1 |
A |
T |
11: 60,094,341 (GRCm39) |
S591R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,469,319 (GRCm39) |
R1170W |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,845,688 (GRCm39) |
V210E |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,775,249 (GRCm39) |
N1648K |
possibly damaging |
Het |
| Vgll3 |
C |
T |
16: 65,636,131 (GRCm39) |
P94L |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,362 (GRCm39) |
V740E |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,040,460 (GRCm39) |
E1127G |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,329 (GRCm39) |
Y252N |
probably damaging |
Het |
|
| Other mutations in Fyb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00664:Fyb2
|
APN |
4 |
104,872,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01155:Fyb2
|
APN |
4 |
104,856,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01632:Fyb2
|
APN |
4 |
104,853,008 (GRCm39) |
missense |
probably benign |
|
|
IGL01746:Fyb2
|
APN |
4 |
104,802,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02381:Fyb2
|
APN |
4 |
104,805,863 (GRCm39) |
splice site |
probably benign |
|
|
IGL02590:Fyb2
|
APN |
4 |
104,836,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Fyb2
|
APN |
4 |
104,861,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03114:Fyb2
|
APN |
4 |
104,852,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03189:Fyb2
|
APN |
4 |
104,872,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03231:Fyb2
|
APN |
4 |
104,843,460 (GRCm39) |
nonsense |
probably null |
|
|
R0076:Fyb2
|
UTSW |
4 |
104,802,661 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0662:Fyb2
|
UTSW |
4 |
104,852,895 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0723:Fyb2
|
UTSW |
4 |
104,873,063 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1216:Fyb2
|
UTSW |
4 |
104,852,903 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1672:Fyb2
|
UTSW |
4 |
104,808,059 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1710:Fyb2
|
UTSW |
4 |
104,861,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Fyb2
|
UTSW |
4 |
104,802,652 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1965:Fyb2
|
UTSW |
4 |
104,770,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2106:Fyb2
|
UTSW |
4 |
104,802,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5191:Fyb2
|
UTSW |
4 |
104,852,994 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5236:Fyb2
|
UTSW |
4 |
104,805,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5277:Fyb2
|
UTSW |
4 |
104,872,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Fyb2
|
UTSW |
4 |
104,802,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Fyb2
|
UTSW |
4 |
104,872,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Fyb2
|
UTSW |
4 |
104,870,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Fyb2
|
UTSW |
4 |
104,802,661 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6169:Fyb2
|
UTSW |
4 |
104,857,713 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6582:Fyb2
|
UTSW |
4 |
104,802,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6713:Fyb2
|
UTSW |
4 |
104,847,432 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6719:Fyb2
|
UTSW |
4 |
104,867,656 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7484:Fyb2
|
UTSW |
4 |
104,870,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7534:Fyb2
|
UTSW |
4 |
104,856,545 (GRCm39) |
nonsense |
probably null |
|
|
R7590:Fyb2
|
UTSW |
4 |
104,802,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7699:Fyb2
|
UTSW |
4 |
104,867,651 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7700:Fyb2
|
UTSW |
4 |
104,867,651 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8041:Fyb2
|
UTSW |
4 |
104,857,681 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8298:Fyb2
|
UTSW |
4 |
104,806,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8300:Fyb2
|
UTSW |
4 |
104,857,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Fyb2
|
UTSW |
4 |
104,861,086 (GRCm39) |
missense |
unknown |
|
|
R8817:Fyb2
|
UTSW |
4 |
104,802,652 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8873:Fyb2
|
UTSW |
4 |
104,856,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Fyb2
|
UTSW |
4 |
104,857,700 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9224:Fyb2
|
UTSW |
4 |
104,853,105 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9434:Fyb2
|
UTSW |
4 |
104,847,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9512:Fyb2
|
UTSW |
4 |
104,853,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9589:Fyb2
|
UTSW |
4 |
104,872,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9634:Fyb2
|
UTSW |
4 |
104,856,579 (GRCm39) |
nonsense |
probably null |
|
|
R9758:Fyb2
|
UTSW |
4 |
104,802,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Fyb2
|
UTSW |
4 |
104,802,407 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Fyb2
|
UTSW |
4 |
104,770,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGTGGCAGTCCAGTTTC -3'
(R):5'- ACTCTGCTGTTTCCAACCAG -3'
Sequencing Primer
(F):5'- AGGTGGCAGTCCAGTTTCATCAC -3'
(R):5'- AGCACTTACCACTGTCTGAGGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation