Incidental Mutation 'R1328:Fip1l1'
| ID |
157272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fip1l1
|
| Ensembl Gene |
ENSMUSG00000029227 |
| Gene Name |
factor interacting with PAPOLA and CPSF1 |
| Synonyms |
Rje, 1300019H17Rik |
| MMRRC Submission |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R1328 (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 74706796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 144
(F144L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080164]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000120618]
|
| AlphaFold |
Q9D824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080164
AA Change: F159L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: F159L
| 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: F159L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: F159L
| 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: F159L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: F159L
| 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: F159L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: F159L
| 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 |
possibly damaging
Transcript: ENSMUST00000120618
AA Change: F144L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: F144L
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000200979
|
| Meta Mutation Damage Score |
0.2720 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
| Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
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 |
|
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 |
|
R4197:Fip1l1
|
UTSW |
5 |
74,696,397 (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'- TTTACAGTCAGGATGGGTGGTAGAGG -3'
(R):5'- CAGGGGACACATGGGTGGGT -3'
Sequencing Primer
(F):5'- GTAGAGGGTGATTGATGTCTCC -3'
(R):5'- TGCTAGTTCTCAAAATTGCCAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation