Incidental Mutation 'R2887:Fibin'
| ID |
261073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fibin
|
| Ensembl Gene |
ENSMUSG00000074971 |
| Gene Name |
fin bud initiation factor homolog (zebrafish) |
| Synonyms |
Fibin, 1110018M03Rik |
| MMRRC Submission |
040475-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
110191270-110193338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110193122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 7
(I7F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099626]
|
| AlphaFold |
Q9CQS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099626
AA Change: I7F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097221
Gene: ENSMUSG00000074971
AA Change: I7F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fibin
|
15 |
210 |
4.1e-107 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,395 (GRCm39) |
S65P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,228,459 (GRCm39) |
R996H |
probably benign |
Het |
| Aurka |
A |
G |
2: 172,209,040 (GRCm39) |
S54P |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,960 (GRCm39) |
G35E |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,393,120 (GRCm39) |
R239C |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,235,341 (GRCm39) |
T214A |
probably benign |
Het |
| Emg1 |
T |
C |
6: 124,682,026 (GRCm39) |
H166R |
probably damaging |
Het |
| Golm1 |
G |
T |
13: 59,788,044 (GRCm39) |
T285K |
probably benign |
Het |
| Ivl |
C |
A |
3: 92,478,699 (GRCm39) |
R455S |
unknown |
Het |
| Lama4 |
A |
C |
10: 38,968,250 (GRCm39) |
Q1464P |
possibly damaging |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,218,138 (GRCm39) |
I175F |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Ptprc |
A |
G |
1: 138,007,916 (GRCm39) |
V711A |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,449,657 (GRCm39) |
T6A |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,113,549 (GRCm39) |
H399R |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,819,052 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Tcf7l1 |
G |
A |
6: 72,609,071 (GRCm39) |
S297L |
probably damaging |
Het |
| Vmn2r98 |
G |
T |
17: 19,301,439 (GRCm39) |
A814S |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,190 (GRCm39) |
T265K |
probably damaging |
Het |
|
| Other mutations in Fibin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02676:Fibin
|
APN |
2 |
110,192,929 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0478:Fibin
|
UTSW |
2 |
110,193,079 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0654:Fibin
|
UTSW |
2 |
110,192,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1135:Fibin
|
UTSW |
2 |
110,192,567 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2437:Fibin
|
UTSW |
2 |
110,192,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2857:Fibin
|
UTSW |
2 |
110,192,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2859:Fibin
|
UTSW |
2 |
110,192,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4119:Fibin
|
UTSW |
2 |
110,193,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Fibin
|
UTSW |
2 |
110,192,963 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6232:Fibin
|
UTSW |
2 |
110,193,041 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7137:Fibin
|
UTSW |
2 |
110,193,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7849:Fibin
|
UTSW |
2 |
110,192,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9675:Fibin
|
UTSW |
2 |
110,192,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACTGTGAACTCCTCTCGAAG -3'
(R):5'- GTAGAGCCACATGAAGCCTG -3'
Sequencing Primer
(F):5'- TCGAAGAGTGAGGCTCAGC -3'
(R):5'- CCACATGAAGCCTGTGGAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation