Incidental Mutation 'R4191:Lrrfip1'
ID |
318287 |
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 |
041022-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4191 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91038121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 446
(E446D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139811
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068116]
[ENSMUST00000068167]
[ENSMUST00000097649]
[ENSMUST00000097650]
[ENSMUST00000185531]
[ENSMUST00000189617]
[ENSMUST00000189505]
|
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
AA Change: E411D
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000063878 Gene: ENSMUSG00000026305 AA Change: E411D
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 benign
Transcript: ENSMUST00000097649
|
SMART Domains |
Protein: ENSMUSP00000095254 Gene: ENSMUSG00000026305
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
AA Change: E411D
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000095255 Gene: ENSMUSG00000026305 AA Change: E411D
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
AA Change: E456D
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000139497 Gene: ENSMUSG00000026305 AA Change: E456D
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
AA Change: E446D
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139811 Gene: ENSMUSG00000026305 AA Change: E446D
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189505
|
SMART Domains |
Protein: ENSMUSP00000141024 Gene: ENSMUSG00000026305
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
33 |
306 |
7.2e-78 |
PFAM |
|
Meta Mutation Damage Score |
0.1760 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
95% (57/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,207,728 (GRCm39) |
T22A |
probably damaging |
Het |
Ache |
A |
T |
5: 137,289,334 (GRCm39) |
I347F |
probably damaging |
Het |
Adgrl1 |
C |
G |
8: 84,665,569 (GRCm39) |
R1464G |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,377,380 (GRCm39) |
D422G |
probably damaging |
Het |
Cdx1 |
C |
T |
18: 61,153,510 (GRCm39) |
S176N |
possibly damaging |
Het |
Cimip3 |
C |
T |
17: 47,747,562 (GRCm39) |
R61H |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,710,667 (GRCm39) |
D1536G |
probably damaging |
Het |
Cyct |
G |
T |
2: 76,184,535 (GRCm39) |
P72Q |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,737,980 (GRCm39) |
L256Q |
probably damaging |
Het |
Disp1 |
G |
T |
1: 182,870,737 (GRCm39) |
A561E |
probably damaging |
Het |
Donson |
C |
A |
16: 91,485,480 (GRCm39) |
A41S |
possibly damaging |
Het |
Gldc |
T |
C |
19: 30,123,058 (GRCm39) |
E279G |
probably damaging |
Het |
Gpr160 |
A |
T |
3: 30,950,863 (GRCm39) |
I312F |
possibly damaging |
Het |
H2-Eb2 |
G |
A |
17: 34,563,529 (GRCm39) |
|
probably benign |
Het |
Igdcc4 |
A |
G |
9: 65,031,433 (GRCm39) |
Q457R |
probably benign |
Het |
Irf2bp2 |
T |
C |
8: 127,320,084 (GRCm39) |
D31G |
probably damaging |
Het |
Klrb1 |
T |
A |
6: 128,690,597 (GRCm39) |
K42* |
probably null |
Het |
Macf1 |
A |
G |
4: 123,366,835 (GRCm39) |
F1077S |
possibly damaging |
Het |
Maml3 |
A |
G |
3: 51,597,390 (GRCm39) |
V1098A |
probably benign |
Het |
Mrgpra4 |
T |
C |
7: 47,630,867 (GRCm39) |
S245G |
probably benign |
Het |
Mybbp1a |
A |
G |
11: 72,342,113 (GRCm39) |
E1283G |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,068,226 (GRCm39) |
S285G |
possibly damaging |
Het |
Myh7b |
A |
G |
2: 155,475,319 (GRCm39) |
D1876G |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
Or10d1c |
T |
A |
9: 38,894,313 (GRCm39) |
Q9L |
probably benign |
Het |
Or2y14 |
T |
A |
11: 49,404,639 (GRCm39) |
M58K |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,383 (GRCm39) |
V104A |
probably benign |
Het |
Or8c11 |
T |
A |
9: 38,289,648 (GRCm39) |
M157K |
probably damaging |
Het |
Or8k18 |
C |
A |
2: 86,085,666 (GRCm39) |
V124L |
probably benign |
Het |
Pcdhgb8 |
G |
C |
18: 37,896,594 (GRCm39) |
D555H |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,675,056 (GRCm39) |
S476P |
probably damaging |
Het |
Pex10 |
T |
C |
4: 155,152,362 (GRCm39) |
|
probably null |
Het |
Pgf |
T |
C |
12: 85,218,561 (GRCm39) |
D63G |
probably benign |
Het |
Piwil4 |
A |
G |
9: 14,626,296 (GRCm39) |
S465P |
probably damaging |
Het |
Plcb1 |
A |
C |
2: 135,187,010 (GRCm39) |
H759P |
probably damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,254,260 (GRCm39) |
M432L |
probably benign |
Het |
Prodh |
C |
T |
16: 17,891,504 (GRCm39) |
V480I |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,360,809 (GRCm39) |
|
probably benign |
Het |
Ro60 |
T |
C |
1: 143,646,524 (GRCm39) |
I74V |
probably benign |
Het |
Senp2 |
G |
T |
16: 21,865,417 (GRCm39) |
W580L |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,046,601 (GRCm39) |
C3510Y |
possibly damaging |
Het |
Tanc1 |
A |
G |
2: 59,669,357 (GRCm39) |
I1274V |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,074,263 (GRCm39) |
E1874G |
probably damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,939,009 (GRCm39) |
T298A |
probably damaging |
Het |
Tlk1 |
G |
A |
2: 70,555,891 (GRCm39) |
R423C |
probably damaging |
Het |
Trp53rkb |
T |
C |
2: 166,637,395 (GRCm39) |
I117T |
probably damaging |
Het |
Ttll9 |
A |
G |
2: 152,844,927 (GRCm39) |
T432A |
probably benign |
Het |
Vit |
A |
G |
17: 78,894,255 (GRCm39) |
H219R |
probably benign |
Het |
Zfp112 |
A |
G |
7: 23,825,568 (GRCm39) |
D512G |
probably benign |
Het |
Zfyve19 |
A |
G |
2: 119,041,312 (GRCm39) |
K76R |
possibly 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 |
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 |
R5196:Lrrfip1
|
UTSW |
1 |
91,042,330 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCTCATTGGTGCCCTGGATG -3'
(R):5'- CTGGCAGAAGCACATATGGG -3'
Sequencing Primer
(F):5'- TGGATGACAGTGCCTCCTAGAC -3'
(R):5'- TGGCACACCTACTTCCTAGGGATAG -3'
|
Posted On |
2015-06-10 |