Incidental Mutation 'R7534:Fyb2'
| ID |
583444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fyb2
|
| Ensembl Gene |
ENSMUSG00000078612 |
| Gene Name |
FYN binding protein 2 |
| Synonyms |
1700024P16Rik |
| MMRRC Submission |
045606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R7534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
104770653-104874060 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 104856545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 584
(Y584*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102415
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106803]
[ENSMUST00000106804]
|
| AlphaFold |
A2A995 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106803
AA Change: Y584*
|
| SMART Domains |
Protein: ENSMUSP00000102415
Gene: ENSMUSG00000078612
AA Change: Y584*
| 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 |
probably null
Transcript: ENSMUST00000106804
AA Change: Y520*
|
| SMART Domains |
Protein: ENSMUSP00000102416
Gene: ENSMUSG00000078612
AA Change: Y520*
| 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 |
0.9717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
A |
C |
17: 35,390,390 (GRCm39) |
M120R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,727,982 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,450,015 (GRCm39) |
S2304P |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,502,777 (GRCm39) |
C632S |
probably benign |
Het |
| Bicra |
T |
C |
7: 15,705,860 (GRCm39) |
N1527S |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,801,319 (GRCm39) |
L1363P |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,301,904 (GRCm39) |
P2037S |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,399,240 (GRCm39) |
L724S |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,420,764 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,421,580 (GRCm39) |
A280V |
probably benign |
Het |
| Dclk3 |
G |
A |
9: 111,297,286 (GRCm39) |
G277R |
probably benign |
Het |
| Ddr1 |
A |
G |
17: 35,993,514 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
C |
1: 46,809,227 (GRCm39) |
D3515A |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,672,172 (GRCm39) |
T49M |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,631,060 (GRCm39) |
F40I |
probably damaging |
Het |
| Fancd2os |
T |
C |
6: 113,574,601 (GRCm39) |
H135R |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,509,875 (GRCm39) |
I1446V |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,643,909 (GRCm39) |
L442F |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,432,973 (GRCm39) |
|
probably benign |
Het |
| Ggta1 |
C |
T |
2: 35,292,440 (GRCm39) |
R289Q |
probably damaging |
Het |
| Gm11564 |
T |
C |
11: 99,706,347 (GRCm39) |
T28A |
unknown |
Het |
| Hcn1 |
A |
G |
13: 118,111,961 (GRCm39) |
T642A |
unknown |
Het |
| Hhat |
A |
T |
1: 192,408,612 (GRCm39) |
L173H |
probably damaging |
Het |
| Hook1 |
T |
G |
4: 95,905,834 (GRCm39) |
I585S |
probably benign |
Het |
| Ighg1 |
A |
T |
12: 113,293,349 (GRCm39) |
S114T |
|
Het |
| Kmt2d |
G |
A |
15: 98,749,899 (GRCm39) |
P2598L |
unknown |
Het |
| Macc1 |
A |
T |
12: 119,411,254 (GRCm39) |
H674L |
probably benign |
Het |
| Mypn |
T |
C |
10: 63,028,910 (GRCm39) |
E51G |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,188 (GRCm39) |
M71K |
probably benign |
Het |
| Or7e170 |
A |
G |
9: 19,795,472 (GRCm39) |
V43A |
probably benign |
Het |
| Or9g3 |
A |
C |
2: 85,589,803 (GRCm39) |
L306V |
probably benign |
Het |
| Pnliprp2 |
T |
A |
19: 58,763,574 (GRCm39) |
S408T |
probably benign |
Het |
| Ppara |
A |
C |
15: 85,661,927 (GRCm39) |
Y56S |
probably benign |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,816 (GRCm39) |
C114R |
probably benign |
Het |
| Pycard |
C |
T |
7: 127,592,657 (GRCm39) |
V57I |
probably damaging |
Het |
| Relch |
G |
A |
1: 105,668,748 (GRCm39) |
R993Q |
probably benign |
Het |
| Rin3 |
T |
G |
12: 102,317,200 (GRCm39) |
Y143D |
unknown |
Het |
| Slc12a7 |
A |
G |
13: 73,912,187 (GRCm39) |
|
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,957,440 (GRCm39) |
R444H |
probably damaging |
Het |
| Ttf2 |
C |
T |
3: 100,857,728 (GRCm39) |
|
probably null |
Het |
| Ufsp2 |
T |
A |
8: 46,433,361 (GRCm39) |
I25N |
probably benign |
Het |
| Uqcrc2 |
A |
G |
7: 120,240,912 (GRCm39) |
T115A |
possibly damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,230 (GRCm39) |
R328* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,950,040 (GRCm39) |
Y269F |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,995,030 (GRCm39) |
Y118C |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,766,611 (GRCm39) |
V374A |
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 |
|
R6371:Fyb2
|
UTSW |
4 |
104,852,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- CTGAGCCAGATTCCCATATGG -3'
(R):5'- TCAATAGCTTAGCATCCCTCTGTG -3'
Sequencing Primer
(F):5'- TCCCATATGGAATCAGAGGCAAAAG -3'
(R):5'- ATAGCTTAGCATCCCTCTGTGTAATC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation