Incidental Mutation 'R4197:Fip1l1'
| ID |
318592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fip1l1
|
| Ensembl Gene |
ENSMUSG00000029227 |
| Gene Name |
factor interacting with PAPOLA and CPSF1 |
| Synonyms |
Rje, 1300019H17Rik |
| MMRRC Submission |
041028-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R4197 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
74696110-74759461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74696397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 19
(D19E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072857]
[ENSMUST00000075848]
[ENSMUST00000080164]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000113542]
[ENSMUST00000120618]
[ENSMUST00000151474]
|
| AlphaFold |
Q9D824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072857
|
| SMART Domains |
Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
25 |
668 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075848
|
| SMART Domains |
Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080164
AA Change: D19E
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: D19E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
1.2e-28 |
PFAM |
|
low complexity region
|
296 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113534
AA Change: D19E
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: D19E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
1.1e-28 |
PFAM |
|
low complexity region
|
270 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113535
AA Change: D19E
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: D19E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
6.4e-29 |
PFAM |
|
low complexity region
|
296 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113536
AA Change: D19E
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: D19E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
1.3e-28 |
PFAM |
|
low complexity region
|
247 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113542
|
| SMART Domains |
Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
471 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121950
|
| SMART Domains |
Protein: ENSMUSP00000113611
Gene: ENSMUSG00000029227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
153 |
195 |
6.6e-29 |
PFAM |
|
low complexity region
|
270 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120618
AA Change: D19E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: D19E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
137 |
181 |
2e-29 |
PFAM |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
567 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151474
|
| SMART Domains |
Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2663 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
| Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
| Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
| Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
| Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
| Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
| Klhl31 |
T |
C |
9: 77,558,091 (GRCm39) |
V269A |
probably damaging |
Het |
| Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
| Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
| Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
| Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
| Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
| Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
| Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
| Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
| Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
Het |
|
| Other mutations in Fip1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Fip1l1
|
APN |
5 |
74,747,726 (GRCm39) |
splice site |
probably benign |
|
|
IGL02008:Fip1l1
|
APN |
5 |
74,706,084 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02069:Fip1l1
|
APN |
5 |
74,752,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:Fip1l1
|
APN |
5 |
74,725,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02514:Fip1l1
|
APN |
5 |
74,731,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Fip1l1
|
APN |
5 |
74,731,776 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0031:Fip1l1
|
UTSW |
5 |
74,717,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Fip1l1
|
UTSW |
5 |
74,756,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Fip1l1
|
UTSW |
5 |
74,756,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Fip1l1
|
UTSW |
5 |
74,755,721 (GRCm39) |
unclassified |
probably benign |
|
|
R1183:Fip1l1
|
UTSW |
5 |
74,755,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Fip1l1
|
UTSW |
5 |
74,706,796 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2434:Fip1l1
|
UTSW |
5 |
74,707,485 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4120:Fip1l1
|
UTSW |
5 |
74,748,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4440:Fip1l1
|
UTSW |
5 |
74,697,446 (GRCm39) |
intron |
probably benign |
|
|
R4825:Fip1l1
|
UTSW |
5 |
74,748,866 (GRCm39) |
splice site |
probably null |
|
|
R4838:Fip1l1
|
UTSW |
5 |
74,752,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Fip1l1
|
UTSW |
5 |
74,706,742 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6159:Fip1l1
|
UTSW |
5 |
74,752,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6556:Fip1l1
|
UTSW |
5 |
74,707,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6724:Fip1l1
|
UTSW |
5 |
74,752,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6984:Fip1l1
|
UTSW |
5 |
74,702,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7092:Fip1l1
|
UTSW |
5 |
74,697,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7205:Fip1l1
|
UTSW |
5 |
74,748,736 (GRCm39) |
splice site |
probably null |
|
|
R7325:Fip1l1
|
UTSW |
5 |
74,697,460 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7590:Fip1l1
|
UTSW |
5 |
74,752,435 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8182:Fip1l1
|
UTSW |
5 |
74,748,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8826:Fip1l1
|
UTSW |
5 |
74,725,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8905:Fip1l1
|
UTSW |
5 |
74,756,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8950:Fip1l1
|
UTSW |
5 |
74,756,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Fip1l1
|
UTSW |
5 |
74,747,703 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9372:Fip1l1
|
UTSW |
5 |
74,707,463 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9473:Fip1l1
|
UTSW |
5 |
74,745,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTTGAGTCTCGCGCTCTTC -3'
(R):5'- CGGCTCAGAATCGATAAAGAGC -3'
Sequencing Primer
(F):5'- GCTCTTCGTTCGCTTACCGG -3'
(R):5'- TCAGAATCGATAAAGAGCATGAATAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation