Incidental Mutation 'R5800:Fip1l1'
ID |
447343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fip1l1
|
Ensembl Gene |
ENSMUSG00000029227 |
Gene Name |
factor interacting with PAPOLA and CPSF1 |
Synonyms |
Rje, 1300019H17Rik |
MMRRC Submission |
043389-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.951)
|
Stock # |
R5800 (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 74706742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 126
(D126E)
|
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: D141E
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079059 Gene: ENSMUSG00000029227 AA Change: D141E
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: D141E
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109162 Gene: ENSMUSG00000029227 AA Change: D141E
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: D141E
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109163 Gene: ENSMUSG00000029227 AA Change: D141E
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: D141E
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109164 Gene: ENSMUSG00000029227 AA Change: D141E
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: D126E
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113995 Gene: ENSMUSG00000029227 AA Change: D126E
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 |
0.0810 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,360,591 (GRCm39) |
V540D |
possibly damaging |
Het |
Adamts8 |
A |
T |
9: 30,865,778 (GRCm39) |
D442V |
probably damaging |
Het |
B3galt9 |
T |
C |
2: 34,728,654 (GRCm39) |
F151S |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,106,592 (GRCm39) |
D4974G |
probably damaging |
Het |
Casp4 |
G |
A |
9: 5,308,915 (GRCm39) |
|
probably null |
Het |
Cfap45 |
T |
A |
1: 172,366,167 (GRCm39) |
V30E |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,957,474 (GRCm39) |
F117L |
probably damaging |
Het |
Dnah7c |
A |
T |
1: 46,686,175 (GRCm39) |
T1810S |
probably benign |
Het |
Drosha |
C |
T |
15: 12,865,153 (GRCm39) |
T627M |
probably damaging |
Het |
Drosha |
C |
A |
15: 12,902,733 (GRCm39) |
A1001D |
probably damaging |
Het |
Efhc1 |
G |
A |
1: 21,049,005 (GRCm39) |
V473I |
probably benign |
Het |
Ephx2 |
T |
C |
14: 66,344,751 (GRCm39) |
K191R |
probably benign |
Het |
Ero1b |
T |
A |
13: 12,617,190 (GRCm39) |
|
probably null |
Het |
Esyt2 |
A |
T |
12: 116,333,808 (GRCm39) |
D837V |
possibly damaging |
Het |
Fyttd1 |
C |
T |
16: 32,711,658 (GRCm39) |
R86C |
probably damaging |
Het |
Gm12888 |
T |
A |
4: 121,176,625 (GRCm39) |
T59S |
probably damaging |
Het |
Gm7353 |
A |
T |
7: 3,160,168 (GRCm39) |
|
noncoding transcript |
Het |
Gpr153 |
C |
T |
4: 152,364,534 (GRCm39) |
Q197* |
probably null |
Het |
Grep1 |
G |
A |
17: 23,936,966 (GRCm39) |
P72S |
probably damaging |
Het |
H2-T23 |
G |
T |
17: 36,342,496 (GRCm39) |
|
probably benign |
Het |
Ighv1-16 |
T |
A |
12: 114,629,531 (GRCm39) |
R85S |
probably benign |
Het |
Ipcef1 |
T |
A |
10: 6,840,569 (GRCm39) |
D376V |
probably damaging |
Het |
Kdm1a |
T |
A |
4: 136,300,381 (GRCm39) |
|
probably null |
Het |
Klk1b27 |
A |
T |
7: 43,705,088 (GRCm39) |
Q85L |
probably benign |
Het |
Krt39 |
A |
T |
11: 99,411,971 (GRCm39) |
D38E |
probably benign |
Het |
L1td1 |
T |
C |
4: 98,621,999 (GRCm39) |
L187P |
possibly damaging |
Het |
Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
Lyg1 |
C |
T |
1: 37,986,034 (GRCm39) |
D176N |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,836,678 (GRCm39) |
N82D |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,226,690 (GRCm39) |
|
probably benign |
Het |
Nynrin |
T |
C |
14: 56,108,088 (GRCm39) |
L1065P |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,449,260 (GRCm39) |
S309P |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,879,567 (GRCm39) |
S1041T |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,811,302 (GRCm39) |
M1518L |
probably benign |
Het |
Prl8a6 |
G |
T |
13: 27,619,453 (GRCm39) |
Q90K |
probably benign |
Het |
Ptcd1 |
T |
A |
5: 145,096,475 (GRCm39) |
D206V |
probably damaging |
Het |
Rap1gap |
C |
A |
4: 137,447,688 (GRCm39) |
D478E |
probably benign |
Het |
Scn5a |
A |
G |
9: 119,330,732 (GRCm39) |
Y1269H |
probably damaging |
Het |
Sdc2 |
A |
T |
15: 33,028,290 (GRCm39) |
H136L |
probably benign |
Het |
Senp6 |
A |
T |
9: 80,033,715 (GRCm39) |
I120F |
probably damaging |
Het |
Shisa5 |
G |
A |
9: 108,885,162 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
A |
G |
10: 76,878,103 (GRCm39) |
S213G |
probably null |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tbc1d20 |
T |
A |
2: 152,150,245 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
C |
19: 41,093,373 (GRCm39) |
H481R |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,138,663 (GRCm39) |
V692A |
probably benign |
Het |
Tmem234 |
T |
C |
4: 129,500,924 (GRCm39) |
|
probably null |
Het |
Vmn1r237 |
C |
G |
17: 21,535,069 (GRCm39) |
T264S |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,260 (GRCm39) |
T253S |
probably benign |
Het |
Zfyve27 |
T |
C |
19: 42,171,102 (GRCm39) |
Y191H |
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 |
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'- CCTGTTCATCTTGAAAGTTTGATCACC -3'
(R):5'- GTCTACATTTGTTAATTCCAGGGAC -3'
Sequencing Primer
(F):5'- GATCACCAAGTTTGACTTTGTCTAG -3'
(R):5'- GTCTCAGTACTCATTATTTGCTTAGG -3'
|
Posted On |
2016-12-15 |