Incidental Mutation 'R8051:Fnbp4'
| ID |
619038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fnbp4
|
| Ensembl Gene |
ENSMUSG00000008200 |
| Gene Name |
formin binding protein 4 |
| Synonyms |
FBP30 |
| MMRRC Submission |
067488-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.918)
|
| Stock # |
R8051 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90575793-90611365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90608083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 935
(V935A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013759]
[ENSMUST00000051831]
[ENSMUST00000136058]
[ENSMUST00000170320]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000013759
AA Change: V935A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: V935A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
235 |
N/A |
INTRINSIC |
|
WW
|
265 |
298 |
3.58e-5 |
SMART |
|
low complexity region
|
372 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
416 |
N/A |
INTRINSIC |
|
coiled coil region
|
442 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
533 |
N/A |
INTRINSIC |
|
WW
|
650 |
683 |
1.77e-9 |
SMART |
|
low complexity region
|
757 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
955 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1018 |
1032 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051831
|
| SMART Domains |
Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
376 |
565 |
1.6e-18 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136058
|
| SMART Domains |
Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
374 |
618 |
2.8e-32 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170320
|
| SMART Domains |
Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
106 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M14
|
376 |
558 |
1.8e-18 |
PFAM |
|
low complexity region
|
640 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
low complexity region
|
761 |
776 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,750,527 (GRCm39) |
L1766Q |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,113 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,684,445 (GRCm39) |
I472F |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,244,309 (GRCm39) |
F35S |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,164,238 (GRCm39) |
|
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,582,473 (GRCm39) |
D346E |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,583,705 (GRCm39) |
C88S |
probably damaging |
Het |
| Cavin2 |
A |
T |
1: 51,340,283 (GRCm39) |
Q320L |
probably benign |
Het |
| Chtf18 |
C |
A |
17: 25,942,453 (GRCm39) |
V462L |
probably benign |
Het |
| Crisp3 |
A |
T |
17: 40,543,451 (GRCm39) |
S134R |
probably benign |
Het |
| Dlg4 |
C |
A |
11: 69,922,468 (GRCm39) |
|
probably benign |
Het |
| Dsc3 |
A |
T |
18: 20,114,270 (GRCm39) |
M328K |
probably damaging |
Het |
| Efemp2 |
T |
A |
19: 5,526,095 (GRCm39) |
D73E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,148,383 (GRCm39) |
A2622T |
possibly damaging |
Het |
| Flt1 |
T |
C |
5: 147,519,501 (GRCm39) |
H938R |
probably benign |
Het |
| Flt3 |
T |
G |
5: 147,295,765 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,442,776 (GRCm39) |
N2587S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gm36864 |
A |
T |
7: 43,891,976 (GRCm39) |
I385F |
probably benign |
Het |
| Il17re |
G |
T |
6: 113,436,328 (GRCm39) |
R47L |
probably benign |
Het |
| Il27ra |
A |
G |
8: 84,760,578 (GRCm39) |
|
probably null |
Het |
| Irf4 |
A |
G |
13: 30,945,456 (GRCm39) |
I401V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,400,265 (GRCm39) |
L342S |
probably damaging |
Het |
| Klc1 |
T |
A |
12: 111,748,384 (GRCm39) |
C390S |
possibly damaging |
Het |
| Klhl22 |
A |
T |
16: 17,610,443 (GRCm39) |
I565F |
probably damaging |
Het |
| Krt26 |
A |
T |
11: 99,228,672 (GRCm39) |
L20Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,012,375 (GRCm39) |
V384A |
possibly damaging |
Het |
| Lmo2 |
T |
A |
2: 103,801,045 (GRCm39) |
L80Q |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,393,952 (GRCm39) |
E491A |
possibly damaging |
Het |
| Ninj1 |
T |
A |
13: 49,347,288 (GRCm39) |
M51K |
probably damaging |
Het |
| Or11g26 |
C |
A |
14: 50,753,100 (GRCm39) |
N146K |
probably benign |
Het |
| Or12d17 |
G |
A |
17: 37,777,213 (GRCm39) |
G39R |
probably damaging |
Het |
| Plppr3 |
T |
A |
10: 79,702,838 (GRCm39) |
T142S |
probably damaging |
Het |
| Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
| Rap1gap2 |
G |
T |
11: 74,286,651 (GRCm39) |
R550S |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,557,623 (GRCm39) |
N279D |
probably damaging |
Het |
| Rhox9 |
C |
T |
X: 36,990,253 (GRCm39) |
G40R |
probably benign |
Het |
| Selplg |
G |
A |
5: 113,957,502 (GRCm39) |
T268I |
probably damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,050,120 (GRCm39) |
M426T |
possibly damaging |
Het |
| Spata18 |
A |
T |
5: 73,827,063 (GRCm39) |
Y220F |
|
Het |
| Spns1 |
T |
C |
7: 125,971,708 (GRCm39) |
T281A |
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,920,171 (GRCm39) |
R2288C |
probably damaging |
Het |
| Tacstd2 |
T |
C |
6: 67,512,383 (GRCm39) |
D103G |
probably damaging |
Het |
| Tmem121 |
C |
T |
12: 113,152,487 (GRCm39) |
A235V |
probably benign |
Het |
| Try4 |
A |
G |
6: 41,281,996 (GRCm39) |
D194G |
probably damaging |
Het |
| Tyrp1 |
C |
A |
4: 80,755,897 (GRCm39) |
T222K |
probably damaging |
Het |
| Zfp57 |
T |
A |
17: 37,320,785 (GRCm39) |
V213D |
probably damaging |
Het |
| Zfy2 |
A |
T |
Y: 2,117,380 (GRCm39) |
|
probably benign |
Het |
| Zkscan4 |
G |
A |
13: 21,668,823 (GRCm39) |
G454R |
not run |
Het |
|
| Other mutations in Fnbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Fnbp4
|
APN |
2 |
90,581,966 (GRCm39) |
splice site |
probably benign |
|
|
IGL00731:Fnbp4
|
APN |
2 |
90,598,987 (GRCm39) |
missense |
probably benign |
|
|
IGL01021:Fnbp4
|
APN |
2 |
90,608,013 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01097:Fnbp4
|
APN |
2 |
90,606,694 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02504:Fnbp4
|
APN |
2 |
90,598,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02510:Fnbp4
|
APN |
2 |
90,581,819 (GRCm39) |
missense |
probably benign |
|
|
IGL02673:Fnbp4
|
APN |
2 |
90,593,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03024:Fnbp4
|
APN |
2 |
90,581,523 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03221:Fnbp4
|
APN |
2 |
90,608,062 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0570:Fnbp4
|
UTSW |
2 |
90,583,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Fnbp4
|
UTSW |
2 |
90,609,537 (GRCm39) |
unclassified |
probably benign |
|
|
R1925:Fnbp4
|
UTSW |
2 |
90,596,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2051:Fnbp4
|
UTSW |
2 |
90,587,876 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2069:Fnbp4
|
UTSW |
2 |
90,588,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2165:Fnbp4
|
UTSW |
2 |
90,597,743 (GRCm39) |
splice site |
probably null |
|
|
R2262:Fnbp4
|
UTSW |
2 |
90,587,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Fnbp4
|
UTSW |
2 |
90,577,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Fnbp4
|
UTSW |
2 |
90,588,821 (GRCm39) |
nonsense |
probably null |
|
|
R4356:Fnbp4
|
UTSW |
2 |
90,588,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4401:Fnbp4
|
UTSW |
2 |
90,577,102 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4491:Fnbp4
|
UTSW |
2 |
90,583,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4914:Fnbp4
|
UTSW |
2 |
90,581,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4981:Fnbp4
|
UTSW |
2 |
90,596,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Fnbp4
|
UTSW |
2 |
90,608,001 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5272:Fnbp4
|
UTSW |
2 |
90,583,459 (GRCm39) |
missense |
probably benign |
|
|
R5683:Fnbp4
|
UTSW |
2 |
90,583,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Fnbp4
|
UTSW |
2 |
90,587,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5905:Fnbp4
|
UTSW |
2 |
90,581,478 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5914:Fnbp4
|
UTSW |
2 |
90,605,137 (GRCm39) |
intron |
probably benign |
|
|
R6028:Fnbp4
|
UTSW |
2 |
90,581,478 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6270:Fnbp4
|
UTSW |
2 |
90,587,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Fnbp4
|
UTSW |
2 |
90,581,468 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6389:Fnbp4
|
UTSW |
2 |
90,575,879 (GRCm39) |
missense |
unknown |
|
|
R6883:Fnbp4
|
UTSW |
2 |
90,576,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6940:Fnbp4
|
UTSW |
2 |
90,575,858 (GRCm39) |
missense |
unknown |
|
|
R7242:Fnbp4
|
UTSW |
2 |
90,576,140 (GRCm39) |
missense |
unknown |
|
|
R7393:Fnbp4
|
UTSW |
2 |
90,609,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7454:Fnbp4
|
UTSW |
2 |
90,608,159 (GRCm39) |
unclassified |
probably benign |
|
|
R7455:Fnbp4
|
UTSW |
2 |
90,608,159 (GRCm39) |
unclassified |
probably benign |
|
|
R8283:Fnbp4
|
UTSW |
2 |
90,577,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8724:Fnbp4
|
UTSW |
2 |
90,577,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Fnbp4
|
UTSW |
2 |
90,606,368 (GRCm39) |
missense |
probably benign |
|
|
R9103:Fnbp4
|
UTSW |
2 |
90,608,187 (GRCm39) |
missense |
probably benign |
|
|
R9140:Fnbp4
|
UTSW |
2 |
90,576,077 (GRCm39) |
missense |
unknown |
|
|
R9617:Fnbp4
|
UTSW |
2 |
90,588,738 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTAGGTCACCAAGCTGTTG -3'
(R):5'- TGCTATGTGAGTACCATCACC -3'
Sequencing Primer
(F):5'- CAAGCTGTTGGGATGGCAC -3'
(R):5'- GCTATGTGAGTACCATCACCTTAAAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation