Incidental Mutation 'R6159:Fip1l1'
| ID |
489744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fip1l1
|
| Ensembl Gene |
ENSMUSG00000029227 |
| Gene Name |
factor interacting with PAPOLA and CPSF1 |
| Synonyms |
Rje, 1300019H17Rik |
| MMRRC Submission |
044306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R6159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
74696110-74759461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74752608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 472
(R472W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039744]
[ENSMUST00000080164]
[ENSMUST00000087161]
[ENSMUST00000113531]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000120618]
[ENSMUST00000127396]
|
| AlphaFold |
Q9D824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039744
|
| SMART Domains |
Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
57 |
164 |
1e-33 |
BLAST |
|
PDZ
|
188 |
263 |
5.33e-19 |
SMART |
|
PDZ
|
295 |
368 |
2.27e-13 |
SMART |
|
PDZ
|
417 |
494 |
8.27e-16 |
SMART |
|
PDZ
|
547 |
624 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080164
AA Change: R436W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: R436W
| 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: ENSMUST00000087161
|
| SMART Domains |
Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
45 |
82 |
5.82e-6 |
SMART |
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
157 |
264 |
3e-33 |
BLAST |
|
PDZ
|
288 |
363 |
5.33e-19 |
SMART |
|
PDZ
|
395 |
468 |
2.27e-13 |
SMART |
|
PDZ
|
517 |
594 |
8.27e-16 |
SMART |
|
PDZ
|
647 |
724 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113531
|
| SMART Domains |
Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
2 |
105 |
2e-32 |
BLAST |
|
PDZ
|
129 |
204 |
5.33e-19 |
SMART |
|
PDZ
|
236 |
309 |
2.27e-13 |
SMART |
|
PDZ
|
358 |
435 |
8.27e-16 |
SMART |
|
PDZ
|
488 |
565 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113534
AA Change: R486W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: R486W
| 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 damaging
Transcript: ENSMUST00000113535
AA Change: R427W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: R427W
| 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 damaging
Transcript: ENSMUST00000113536
AA Change: R472W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: R472W
| 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 |
noncoding transcript
Transcript: ENSMUST00000202499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125129
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120618
|
| SMART Domains |
Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
| 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 |
probably benign
Transcript: ENSMUST00000127396
|
| SMART Domains |
Protein: ENSMUSP00000120886
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl2 |
A |
C |
6: 29,908,457 (GRCm39) |
N609T |
possibly damaging |
Het |
| Ankzf1 |
G |
A |
1: 75,170,888 (GRCm39) |
C98Y |
probably damaging |
Het |
| Atg101 |
T |
A |
15: 101,188,519 (GRCm39) |
M208K |
possibly damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,143,930 (GRCm39) |
I388T |
probably benign |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Chrnd |
T |
A |
1: 87,118,812 (GRCm39) |
D56E |
probably benign |
Het |
| Col28a1 |
A |
T |
6: 8,162,247 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
T |
8: 11,270,007 (GRCm39) |
P899Q |
probably damaging |
Het |
| Cts3 |
C |
A |
13: 61,714,655 (GRCm39) |
A217S |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,465,941 (GRCm39) |
N495S |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,349,368 (GRCm39) |
I2423F |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,733,041 (GRCm39) |
H1053R |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,521 (GRCm39) |
A36V |
probably damaging |
Het |
| Fam184a |
G |
A |
10: 53,574,869 (GRCm39) |
L191F |
probably damaging |
Het |
| Fbxl9 |
T |
C |
8: 106,049,925 (GRCm39) |
Y33C |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,338,018 (GRCm39) |
F378S |
probably damaging |
Het |
| Ggt1 |
A |
T |
10: 75,420,799 (GRCm39) |
E388V |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,638,050 (GRCm39) |
T375A |
probably benign |
Het |
| Gm43302 |
A |
G |
5: 105,436,894 (GRCm39) |
S71P |
probably benign |
Het |
| Gnrhr |
G |
T |
5: 86,330,216 (GRCm39) |
T268K |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,962,020 (GRCm39) |
V335A |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,933,037 (GRCm39) |
L257H |
probably damaging |
Het |
| Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,369,323 (GRCm39) |
C2433S |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,461,086 (GRCm39) |
|
probably null |
Het |
| Nipal2 |
A |
C |
15: 34,600,172 (GRCm39) |
V215G |
probably damaging |
Het |
| Or10al5 |
A |
T |
17: 38,063,038 (GRCm39) |
I98F |
probably damaging |
Het |
| Or9i1b |
C |
T |
19: 13,897,104 (GRCm39) |
T240I |
probably damaging |
Het |
| Oxct2b |
G |
A |
4: 123,011,244 (GRCm39) |
R388H |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,774,240 (GRCm39) |
I469V |
possibly damaging |
Het |
| Phyhip |
A |
G |
14: 70,704,294 (GRCm39) |
H171R |
possibly damaging |
Het |
| Pigs |
C |
T |
11: 78,219,326 (GRCm39) |
T9M |
probably benign |
Het |
| Plek |
T |
C |
11: 16,935,539 (GRCm39) |
D256G |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,693,371 (GRCm39) |
V369A |
probably benign |
Het |
| Psmc5 |
A |
G |
11: 106,152,088 (GRCm39) |
K82E |
possibly damaging |
Het |
| Qrsl1 |
A |
T |
10: 43,758,189 (GRCm39) |
F301L |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,797,673 (GRCm39) |
L135P |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,184,159 (GRCm39) |
V148A |
probably damaging |
Het |
| Scyl1 |
T |
A |
19: 5,814,785 (GRCm39) |
D381V |
probably benign |
Het |
| Selplg |
G |
T |
5: 113,957,162 (GRCm39) |
D381E |
probably benign |
Het |
| Sh3rf2 |
C |
A |
18: 42,289,200 (GRCm39) |
Q674K |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,210,659 (GRCm39) |
T987A |
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,539,698 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
T |
17: 6,036,327 (GRCm39) |
I14F |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,926,440 (GRCm39) |
M170K |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,607,096 (GRCm39) |
E211G |
possibly damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,217,016 (GRCm39) |
E257* |
probably null |
Het |
| Tlr4 |
A |
G |
4: 66,758,070 (GRCm39) |
R288G |
possibly damaging |
Het |
| Trbc1 |
T |
C |
6: 41,515,385 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
G |
A |
11: 87,107,374 (GRCm39) |
|
probably null |
Het |
| Txnrd3 |
T |
C |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
| Tyk2 |
C |
A |
9: 21,021,800 (GRCm39) |
Q875H |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,385,698 (GRCm39) |
Y761H |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,836,876 (GRCm39) |
L720P |
probably damaging |
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 |
|
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 |
|
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'- ACTGAATCCCATAACCTGTGC -3'
(R):5'- GCTGCTTACAGTACTTGGAATCC -3'
Sequencing Primer
(F):5'- ATCCCATAACCTGTGCTTTTAATGTG -3'
(R):5'- GCTTACAGTACTTGGAATCCTCAAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation