Incidental Mutation 'R8006:Lrrfip1'
ID |
616607 |
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 |
046046-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8006 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91004673 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 70
(Y70C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068116]
[ENSMUST00000068167]
[ENSMUST00000097649]
[ENSMUST00000097650]
[ENSMUST00000185531]
[ENSMUST00000186762]
[ENSMUST00000189505]
[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 damaging
Transcript: ENSMUST00000068167
AA Change: Y60C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000063878 Gene: ENSMUSG00000026305 AA Change: Y60C
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 damaging
Transcript: ENSMUST00000097650
AA Change: Y60C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095255 Gene: ENSMUSG00000026305 AA Change: Y60C
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 damaging
Transcript: ENSMUST00000185531
AA Change: Y70C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139497 Gene: ENSMUSG00000026305 AA Change: Y70C
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 |
probably benign
Transcript: ENSMUST00000186762
|
SMART Domains |
Protein: ENSMUSP00000139902 Gene: ENSMUSG00000026305
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
23 |
98 |
1.5e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189505
AA Change: Y70C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141024 Gene: ENSMUSG00000026305 AA Change: Y70C
Domain | Start | End | E-Value | Type |
Pfam:DUF2051
|
33 |
306 |
7.2e-78 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189617
AA Change: Y60C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139811 Gene: ENSMUSG00000026305 AA Change: Y60C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
T |
A |
8: 41,248,944 (GRCm39) |
H351Q |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,989,447 (GRCm39) |
V3577A |
possibly damaging |
Het |
Akap13 |
T |
C |
7: 75,229,444 (GRCm39) |
S126P |
probably damaging |
Het |
Akip1 |
A |
G |
7: 109,303,199 (GRCm39) |
D14G |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,781,772 (GRCm39) |
R287G |
|
Het |
Ankrd13a |
A |
C |
5: 114,942,484 (GRCm39) |
*589S |
probably null |
Het |
Ankrd34c |
T |
C |
9: 89,611,889 (GRCm39) |
I151V |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,243,518 (GRCm39) |
D880E |
probably benign |
Het |
Arl3 |
A |
C |
19: 46,546,813 (GRCm39) |
L4R |
probably damaging |
Het |
Ate1 |
T |
A |
7: 130,069,118 (GRCm39) |
Q340L |
probably damaging |
Het |
Ccdc38 |
A |
T |
10: 93,391,448 (GRCm39) |
|
probably null |
Het |
Celsr3 |
C |
T |
9: 108,706,306 (GRCm39) |
P930S |
probably damaging |
Het |
Cfhr4 |
A |
G |
1: 139,664,590 (GRCm39) |
Y490H |
probably damaging |
Het |
Cox18 |
C |
T |
5: 90,371,672 (GRCm39) |
V43M |
probably damaging |
Het |
Ctnna3 |
A |
G |
10: 63,417,790 (GRCm39) |
K176R |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,334,183 (GRCm39) |
T1004A |
probably benign |
Het |
Fam227a |
A |
G |
15: 79,518,299 (GRCm39) |
I335T |
possibly damaging |
Het |
Gm14496 |
A |
G |
2: 181,637,669 (GRCm39) |
I248V |
probably benign |
Het |
Gm6871 |
T |
C |
7: 41,195,106 (GRCm39) |
T544A |
probably benign |
Het |
Grm6 |
A |
T |
11: 50,755,484 (GRCm39) |
*872L |
probably null |
Het |
Herc1 |
T |
A |
9: 66,352,842 (GRCm39) |
Y2109* |
probably null |
Het |
Hsd11b2 |
T |
A |
8: 106,245,735 (GRCm39) |
V80E |
possibly damaging |
Het |
Itgb3 |
T |
C |
11: 104,556,322 (GRCm39) |
V721A |
possibly damaging |
Het |
Jade1 |
A |
T |
3: 41,568,124 (GRCm39) |
I731L |
probably benign |
Het |
Khnyn |
G |
A |
14: 56,125,047 (GRCm39) |
V434I |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,425,488 (GRCm39) |
L714P |
probably damaging |
Het |
Lrrc41 |
G |
A |
4: 115,952,085 (GRCm39) |
E585K |
possibly damaging |
Het |
Mex3a |
T |
A |
3: 88,444,393 (GRCm39) |
C490S |
probably damaging |
Het |
Mmp27 |
C |
T |
9: 7,578,985 (GRCm39) |
R387C |
probably damaging |
Het |
Mro |
A |
T |
18: 74,010,577 (GRCm39) |
D219V |
possibly damaging |
Het |
Myot |
T |
A |
18: 44,487,904 (GRCm39) |
L407Q |
probably damaging |
Het |
Nppa |
T |
A |
4: 148,085,638 (GRCm39) |
W82R |
probably damaging |
Het |
Or10g6 |
T |
G |
9: 39,933,770 (GRCm39) |
L27R |
probably damaging |
Het |
Or52a20 |
T |
A |
7: 103,366,532 (GRCm39) |
C244S |
probably damaging |
Het |
Or5ak24 |
T |
C |
2: 85,260,318 (GRCm39) |
N285S |
probably damaging |
Het |
Phip |
T |
A |
9: 82,772,179 (GRCm39) |
I1123L |
possibly damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,661,831 (GRCm39) |
I695T |
probably benign |
Het |
Ppp1r10 |
A |
T |
17: 36,239,158 (GRCm39) |
M347L |
probably benign |
Het |
Reln |
A |
T |
5: 22,104,082 (GRCm39) |
C3296* |
probably null |
Het |
Semp2l1 |
T |
A |
1: 32,586,005 (GRCm39) |
|
probably benign |
Het |
Slf2 |
T |
A |
19: 44,930,756 (GRCm39) |
L611Q |
probably damaging |
Het |
Spire1 |
G |
A |
18: 67,634,251 (GRCm39) |
Q396* |
probably null |
Het |
Taf2 |
A |
G |
15: 54,912,097 (GRCm39) |
F537L |
probably damaging |
Het |
Tbc1d16 |
C |
T |
11: 119,046,898 (GRCm39) |
E451K |
probably damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tmem267 |
T |
A |
13: 120,070,774 (GRCm39) |
V143E |
probably damaging |
Het |
Tyw1 |
C |
T |
5: 130,296,913 (GRCm39) |
R177W |
possibly damaging |
Het |
Vcp |
A |
T |
4: 42,985,993 (GRCm39) |
H340Q |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
Wnk4 |
A |
G |
11: 101,159,182 (GRCm39) |
D533G |
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,650,174 (GRCm39) |
C331S |
probably benign |
Het |
Zik1 |
A |
T |
7: 10,224,100 (GRCm39) |
C332* |
probably null |
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 |
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 |
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'- CAGATGAGTGCTTTGCCTTG -3'
(R):5'- ACCAGATGCAGAATGCCCTG -3'
Sequencing Primer
(F):5'- ACTACCTCGCTGCTTAGGAAATGG -3'
(R):5'- CAGAATGCCCTGAGGAAGACC -3'
|
Posted On |
2020-01-23 |