Incidental Mutation 'R5196:Lrrfip1'
ID |
400197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrfip1
|
Ensembl Gene |
ENSMUSG00000026305 |
Gene Name |
leucine rich repeat (in FLII) interacting protein 1 |
Synonyms |
FLAP (FLI LRR associated protein), Fliiap1 |
MMRRC Submission |
042772-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5196 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91042330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 245
(E245G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068116]
[ENSMUST00000068167]
[ENSMUST00000097649]
[ENSMUST00000097650]
[ENSMUST00000185531]
[ENSMUST00000189617]
|
AlphaFold |
Q3UZ39 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068116
|
SMART Domains |
Protein: ENSMUSP00000065850 Gene: ENSMUSG00000026305
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
33 |
354 |
4.1e-133 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000068167
|
SMART Domains |
Protein: ENSMUSP00000063878 Gene: ENSMUSG00000026305
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
23 |
123 |
2.2e-18 |
PFAM |
Pfam:DUF2051
|
193 |
387 |
2.5e-49 |
PFAM |
Pfam:DUF2051
|
366 |
553 |
8.1e-34 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097649
AA Change: E245G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095254 Gene: ENSMUSG00000026305 AA Change: E245G
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
23 |
327 |
1.3e-87 |
PFAM |
internal_repeat_2
|
439 |
528 |
6e-5 |
PROSPERO |
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
internal_repeat_2
|
575 |
683 |
6e-5 |
PROSPERO |
internal_repeat_1
|
647 |
715 |
1.05e-5 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097650
|
SMART Domains |
Protein: ENSMUSP00000095255 Gene: ENSMUSG00000026305
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
23 |
120 |
2.3e-16 |
PFAM |
Pfam:DUF2051
|
195 |
368 |
1.2e-63 |
PFAM |
Pfam:DUF2051
|
379 |
554 |
1.8e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185531
|
SMART Domains |
Protein: ENSMUSP00000139497 Gene: ENSMUSG00000026305
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
33 |
118 |
1.2e-12 |
PFAM |
low complexity region
|
138 |
158 |
N/A |
INTRINSIC |
Pfam:DUF2051
|
231 |
413 |
3.7e-60 |
PFAM |
Pfam:DUF2051
|
424 |
575 |
1.3e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188708
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189617
|
SMART Domains |
Protein: ENSMUSP00000139811 Gene: ENSMUSG00000026305
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
23 |
108 |
1.4e-12 |
PFAM |
low complexity region
|
128 |
148 |
N/A |
INTRINSIC |
Pfam:DUF2051
|
229 |
403 |
1.2e-60 |
PFAM |
Pfam:DUF2051
|
414 |
589 |
1.8e-44 |
PFAM |
|
Meta Mutation Damage Score |
0.4369 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,686,450 (GRCm39) |
T281A |
possibly damaging |
Het |
4930503B20Rik |
A |
G |
3: 146,352,018 (GRCm39) |
|
probably benign |
Het |
6330409D20Rik |
T |
A |
2: 32,630,552 (GRCm39) |
|
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Amigo2 |
A |
G |
15: 97,143,942 (GRCm39) |
F160S |
probably damaging |
Het |
Arcn1 |
A |
T |
9: 44,671,324 (GRCm39) |
L68M |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
Asph |
A |
T |
4: 9,607,830 (GRCm39) |
S163T |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,913,136 (GRCm39) |
|
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,075,737 (GRCm39) |
I5V |
probably benign |
Het |
Ccm2 |
G |
A |
11: 6,511,181 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
T |
C |
1: 179,899,978 (GRCm39) |
V431A |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,065,730 (GRCm39) |
M668K |
probably damaging |
Het |
Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
Chrm5 |
T |
C |
2: 112,310,729 (GRCm39) |
Y129C |
probably damaging |
Het |
Chrna5 |
A |
G |
9: 54,913,803 (GRCm39) |
I421V |
possibly damaging |
Het |
Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
Col6a3 |
G |
T |
1: 90,744,260 (GRCm39) |
|
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
Fgd4 |
T |
A |
16: 16,302,006 (GRCm39) |
N183I |
probably benign |
Het |
Fnip2 |
T |
C |
3: 79,479,845 (GRCm39) |
|
probably benign |
Het |
Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
Gm9847 |
T |
A |
12: 14,545,016 (GRCm39) |
|
noncoding transcript |
Het |
H2-T23 |
A |
G |
17: 36,343,499 (GRCm39) |
|
probably null |
Het |
Hdlbp |
T |
C |
1: 93,347,915 (GRCm39) |
E613G |
probably damaging |
Het |
Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
Klrb1c |
T |
A |
6: 128,757,262 (GRCm39) |
S268C |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mast3 |
A |
T |
8: 71,240,889 (GRCm39) |
I220N |
probably damaging |
Het |
Mfap3 |
A |
G |
11: 57,420,639 (GRCm39) |
T207A |
probably damaging |
Het |
Mtdh |
G |
T |
15: 34,118,150 (GRCm39) |
K75N |
probably damaging |
Het |
Mybpc1 |
A |
G |
10: 88,372,213 (GRCm39) |
Y806H |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 109,842,299 (GRCm39) |
D158G |
probably damaging |
Het |
Odr4 |
T |
A |
1: 150,258,140 (GRCm39) |
D165V |
probably damaging |
Het |
Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
Or6c216 |
T |
A |
10: 129,678,650 (GRCm39) |
D87V |
possibly damaging |
Het |
Pask |
A |
G |
1: 93,237,805 (GRCm39) |
|
probably benign |
Het |
Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
Prmt9 |
G |
A |
8: 78,291,626 (GRCm39) |
V333M |
probably benign |
Het |
Pten |
A |
T |
19: 32,792,897 (GRCm39) |
M239L |
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
Reg2 |
T |
A |
6: 78,382,530 (GRCm39) |
L12* |
probably null |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc5a7 |
C |
A |
17: 54,588,750 (GRCm39) |
|
probably null |
Het |
Tcaf3 |
G |
T |
6: 42,570,649 (GRCm39) |
R368S |
probably benign |
Het |
Tfcp2 |
A |
G |
15: 100,418,595 (GRCm39) |
V189A |
probably damaging |
Het |
Wdr12 |
T |
C |
1: 60,126,243 (GRCm39) |
S191G |
probably damaging |
Het |
Zfp536 |
G |
A |
7: 37,180,185 (GRCm39) |
R807W |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
Other mutations in Lrrfip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Lrrfip1
|
APN |
1 |
90,996,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00835:Lrrfip1
|
APN |
1 |
91,043,140 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01603:Lrrfip1
|
APN |
1 |
91,043,635 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02261:Lrrfip1
|
APN |
1 |
91,039,890 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02401:Lrrfip1
|
APN |
1 |
91,042,650 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02690:Lrrfip1
|
APN |
1 |
90,981,383 (GRCm39) |
missense |
probably damaging |
0.97 |
R0048:Lrrfip1
|
UTSW |
1 |
91,021,369 (GRCm39) |
splice site |
probably benign |
|
R0048:Lrrfip1
|
UTSW |
1 |
91,021,369 (GRCm39) |
splice site |
probably benign |
|
R0891:Lrrfip1
|
UTSW |
1 |
90,996,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R1210:Lrrfip1
|
UTSW |
1 |
91,042,915 (GRCm39) |
missense |
probably benign |
0.16 |
R1352:Lrrfip1
|
UTSW |
1 |
91,043,089 (GRCm39) |
missense |
probably benign |
|
R1488:Lrrfip1
|
UTSW |
1 |
91,042,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R1600:Lrrfip1
|
UTSW |
1 |
91,042,389 (GRCm39) |
missense |
probably damaging |
0.98 |
R1718:Lrrfip1
|
UTSW |
1 |
91,043,277 (GRCm39) |
missense |
probably damaging |
0.99 |
R2056:Lrrfip1
|
UTSW |
1 |
91,043,539 (GRCm39) |
missense |
probably benign |
0.25 |
R2993:Lrrfip1
|
UTSW |
1 |
91,032,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R3782:Lrrfip1
|
UTSW |
1 |
91,039,911 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4191:Lrrfip1
|
UTSW |
1 |
91,038,121 (GRCm39) |
missense |
probably benign |
0.39 |
R4675:Lrrfip1
|
UTSW |
1 |
91,031,042 (GRCm39) |
critical splice donor site |
probably null |
|
R4732:Lrrfip1
|
UTSW |
1 |
91,043,369 (GRCm39) |
missense |
probably benign |
0.29 |
R4733:Lrrfip1
|
UTSW |
1 |
91,043,369 (GRCm39) |
missense |
probably benign |
0.29 |
R5250:Lrrfip1
|
UTSW |
1 |
91,043,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5433:Lrrfip1
|
UTSW |
1 |
91,014,848 (GRCm39) |
critical splice donor site |
probably null |
|
R6005:Lrrfip1
|
UTSW |
1 |
91,042,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Lrrfip1
|
UTSW |
1 |
91,009,881 (GRCm39) |
missense |
probably damaging |
0.96 |
R6600:Lrrfip1
|
UTSW |
1 |
91,043,569 (GRCm39) |
missense |
probably damaging |
0.99 |
R6847:Lrrfip1
|
UTSW |
1 |
91,032,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Lrrfip1
|
UTSW |
1 |
91,042,529 (GRCm39) |
nonsense |
probably null |
|
R6940:Lrrfip1
|
UTSW |
1 |
91,050,135 (GRCm39) |
splice site |
probably null |
|
R6976:Lrrfip1
|
UTSW |
1 |
91,042,737 (GRCm39) |
missense |
probably benign |
0.00 |
R7002:Lrrfip1
|
UTSW |
1 |
91,043,180 (GRCm39) |
missense |
probably benign |
0.31 |
R7205:Lrrfip1
|
UTSW |
1 |
91,019,338 (GRCm39) |
missense |
probably benign |
0.00 |
R7363:Lrrfip1
|
UTSW |
1 |
91,050,842 (GRCm39) |
missense |
probably benign |
0.05 |
R7552:Lrrfip1
|
UTSW |
1 |
91,033,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R7910:Lrrfip1
|
UTSW |
1 |
91,047,874 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8006:Lrrfip1
|
UTSW |
1 |
91,004,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R8068:Lrrfip1
|
UTSW |
1 |
91,055,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R8086:Lrrfip1
|
UTSW |
1 |
91,043,630 (GRCm39) |
missense |
probably benign |
0.00 |
R8221:Lrrfip1
|
UTSW |
1 |
91,042,878 (GRCm39) |
missense |
probably benign |
0.11 |
R8352:Lrrfip1
|
UTSW |
1 |
90,926,541 (GRCm39) |
missense |
probably benign |
|
R8362:Lrrfip1
|
UTSW |
1 |
90,981,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Lrrfip1
|
UTSW |
1 |
91,012,781 (GRCm39) |
intron |
probably benign |
|
R9138:Lrrfip1
|
UTSW |
1 |
91,038,080 (GRCm39) |
missense |
probably damaging |
0.99 |
X0057:Lrrfip1
|
UTSW |
1 |
91,043,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
Z1088:Lrrfip1
|
UTSW |
1 |
91,043,252 (GRCm39) |
intron |
probably benign |
|
Z1176:Lrrfip1
|
UTSW |
1 |
91,028,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
Z1177:Lrrfip1
|
UTSW |
1 |
91,050,216 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTGCTGCTTTGACACACAG -3'
(R):5'- ACATTTGGCCCCTGCTAGTG -3'
Sequencing Primer
(F):5'- GCTTTGACACACAGGCCCAG -3'
(R):5'- TGCTAGTGGTCCCGGGG -3'
|
Posted On |
2016-07-06 |