Incidental Mutation 'R6911:Lrrfip1'
ID |
538999 |
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 |
045003-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6911 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 91042529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 311
(C311*)
|
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 null
Transcript: ENSMUST00000097649
AA Change: C311*
|
SMART Domains |
Protein: ENSMUSP00000095254 Gene: ENSMUSG00000026305 AA Change: C311*
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
A |
15: 81,948,068 (GRCm39) |
M655K |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,078,146 (GRCm39) |
F693I |
probably benign |
Het |
Amt |
G |
T |
9: 108,178,428 (GRCm39) |
|
probably null |
Het |
Anapc7 |
A |
T |
5: 122,578,343 (GRCm39) |
K443* |
probably null |
Het |
Apcs |
A |
G |
1: 172,721,752 (GRCm39) |
V198A |
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,056,008 (GRCm39) |
V271A |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,159,179 (GRCm39) |
I459N |
probably damaging |
Het |
Cdh20 |
T |
C |
1: 104,912,411 (GRCm39) |
I555T |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,563,497 (GRCm39) |
E810G |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,199,009 (GRCm39) |
D101G |
probably damaging |
Het |
Coq7 |
T |
A |
7: 118,109,385 (GRCm39) |
H221L |
unknown |
Het |
Depdc5 |
A |
T |
5: 33,081,536 (GRCm39) |
Q566L |
probably damaging |
Het |
Dync1i2 |
G |
A |
2: 71,077,446 (GRCm39) |
V233I |
probably benign |
Het |
Erp44 |
G |
T |
4: 48,204,268 (GRCm39) |
H298N |
probably benign |
Het |
Fam162a |
A |
G |
16: 35,866,747 (GRCm39) |
|
probably null |
Het |
Fancd2 |
A |
G |
6: 113,525,346 (GRCm39) |
E274G |
probably damaging |
Het |
Fkbp15 |
G |
T |
4: 62,258,527 (GRCm39) |
Q147K |
probably damaging |
Het |
Ganab |
T |
A |
19: 8,885,152 (GRCm39) |
|
probably null |
Het |
Gfm1 |
T |
C |
3: 67,358,636 (GRCm39) |
V409A |
possibly damaging |
Het |
Gnptab |
G |
A |
10: 88,267,258 (GRCm39) |
G450S |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grid1 |
A |
T |
14: 34,542,185 (GRCm39) |
M1L |
probably benign |
Het |
Helz |
C |
T |
11: 107,510,051 (GRCm39) |
T558I |
probably benign |
Het |
Htra4 |
A |
G |
8: 25,515,721 (GRCm39) |
V439A |
probably damaging |
Het |
Kctd17 |
A |
G |
15: 78,318,206 (GRCm39) |
E95G |
probably damaging |
Het |
Kif18b |
T |
C |
11: 102,807,206 (GRCm39) |
D43G |
probably damaging |
Het |
Lrpprc |
G |
A |
17: 85,063,711 (GRCm39) |
S550L |
possibly damaging |
Het |
Mcoln2 |
C |
T |
3: 145,898,011 (GRCm39) |
T44I |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,893,723 (GRCm39) |
T2010A |
possibly damaging |
Het |
Med23 |
C |
T |
10: 24,778,079 (GRCm39) |
T803M |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,357,716 (GRCm39) |
F290S |
probably damaging |
Het |
Myh13 |
C |
T |
11: 67,245,753 (GRCm39) |
Q1095* |
probably null |
Het |
Nktr |
C |
A |
9: 121,583,392 (GRCm39) |
Y93* |
probably null |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 59,007,029 (GRCm39) |
E210D |
probably damaging |
Het |
Nup210 |
G |
T |
6: 91,007,112 (GRCm39) |
A568E |
probably damaging |
Het |
Or10ak9 |
T |
A |
4: 118,726,335 (GRCm39) |
M119K |
probably damaging |
Het |
Or2y1g |
A |
G |
11: 49,171,634 (GRCm39) |
I220V |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,136,618 (GRCm39) |
T23A |
probably benign |
Het |
Or5as1 |
T |
A |
2: 86,980,111 (GRCm39) |
K298I |
probably damaging |
Het |
Pdlim5 |
T |
C |
3: 142,010,076 (GRCm39) |
I289V |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Per1 |
C |
T |
11: 68,994,083 (GRCm39) |
T443M |
probably damaging |
Het |
Plxna1 |
A |
G |
6: 89,297,956 (GRCm39) |
V1774A |
probably damaging |
Het |
Poteg |
A |
G |
8: 27,940,326 (GRCm39) |
Y165C |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,329,270 (GRCm39) |
T582A |
probably benign |
Het |
Psma5 |
A |
G |
3: 108,172,464 (GRCm39) |
E60G |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr2 |
T |
C |
13: 11,842,445 (GRCm39) |
N484S |
possibly damaging |
Het |
Sec31a |
A |
G |
5: 100,541,123 (GRCm39) |
I328T |
possibly damaging |
Het |
Slc12a2 |
G |
T |
18: 58,052,541 (GRCm39) |
V787L |
probably benign |
Het |
St14 |
C |
T |
9: 31,018,081 (GRCm39) |
R177Q |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tom1l1 |
G |
T |
11: 90,534,987 (GRCm39) |
|
probably null |
Het |
Ttf1 |
A |
G |
2: 28,954,863 (GRCm39) |
R76G |
probably benign |
Het |
Ube4a |
C |
T |
9: 44,854,056 (GRCm39) |
E581K |
probably damaging |
Het |
Vmn2r114 |
A |
G |
17: 23,510,104 (GRCm39) |
V792A |
probably damaging |
Het |
Wdr11 |
T |
C |
7: 129,208,819 (GRCm39) |
I430T |
probably benign |
Het |
Xkr4 |
T |
C |
1: 3,741,544 (GRCm39) |
K10E |
possibly damaging |
Het |
Zfp451 |
T |
C |
1: 33,842,537 (GRCm39) |
|
probably benign |
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 |
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'- ATCATGGGGTCCCTTCAATTC -3'
(R):5'- TTCAAATCCTCAGTGGGCCC -3'
Sequencing Primer
(F):5'- CTCTCAATGGTCTTTTAGGAAAAGCC -3'
(R):5'- CTGGCACTTCACTGTCTAGAC -3'
|
Posted On |
2018-11-06 |