Incidental Mutation 'V1662:Lrrc40'
ID |
63479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc40
|
Ensembl Gene |
ENSMUSG00000063052 |
Gene Name |
leucine rich repeat containing 40 |
Synonyms |
2610040E16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
V1662 ()
of strain
633
|
Quality Score |
137 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 157758426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 277
(I277K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072080]
[ENSMUST00000150525]
[ENSMUST00000156597]
[ENSMUST00000200540]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072080
AA Change: I277K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071956 Gene: ENSMUSG00000063052 AA Change: I277K
Domain | Start | End | E-Value | Type |
LRR
|
81 |
100 |
7.11e1 |
SMART |
LRR
|
104 |
126 |
6.13e-1 |
SMART |
LRR
|
127 |
149 |
1.51e0 |
SMART |
LRR_TYP
|
150 |
172 |
8.47e-4 |
SMART |
LRR
|
173 |
195 |
3.52e-1 |
SMART |
LRR_TYP
|
196 |
219 |
2.91e-2 |
SMART |
LRR
|
242 |
261 |
9.15e0 |
SMART |
LRR
|
265 |
287 |
1.01e2 |
SMART |
LRR
|
288 |
310 |
1.86e1 |
SMART |
LRR
|
311 |
334 |
2.32e-1 |
SMART |
LRR
|
335 |
356 |
2.21e2 |
SMART |
LRR
|
471 |
493 |
1.86e0 |
SMART |
LRR
|
494 |
517 |
8.97e0 |
SMART |
LRR
|
541 |
564 |
1.53e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123028
|
SMART Domains |
Protein: ENSMUSP00000121905 Gene: ENSMUSG00000063052
Domain | Start | End | E-Value | Type |
SCOP:d1fqva2
|
37 |
68 |
3e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131518
|
SMART Domains |
Protein: ENSMUSP00000121417 Gene: ENSMUSG00000063052
Domain | Start | End | E-Value | Type |
SCOP:d1fqva2
|
80 |
110 |
2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150525
|
SMART Domains |
Protein: ENSMUSP00000116475 Gene: ENSMUSG00000063052
Domain | Start | End | E-Value | Type |
SCOP:d1fqva2
|
81 |
111 |
3e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156597
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200540
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
G |
C |
5: 114,376,769 (GRCm39) |
G1951R |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,071,894 (GRCm39) |
L146Q |
probably benign |
Het |
Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
Amph |
G |
A |
13: 19,323,540 (GRCm39) |
V601M |
probably benign |
Het |
Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,540,636 (GRCm39) |
R154Q |
probably damaging |
Het |
Bank1 |
T |
A |
3: 135,760,179 (GRCm39) |
D782V |
probably damaging |
Het |
Bhlha9 |
G |
T |
11: 76,563,862 (GRCm39) |
R163L |
probably benign |
Het |
Cacna1h |
T |
C |
17: 25,596,283 (GRCm39) |
N1913D |
possibly damaging |
Het |
Cd7 |
T |
C |
11: 120,927,952 (GRCm39) |
I184V |
probably benign |
Het |
Cdk2ap1 |
T |
A |
5: 124,486,739 (GRCm39) |
I68F |
possibly damaging |
Het |
Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
D6Ertd527e |
T |
C |
6: 87,088,874 (GRCm39) |
S346P |
unknown |
Het |
Daam2 |
A |
G |
17: 49,771,629 (GRCm39) |
L839P |
possibly damaging |
Het |
Gask1a |
A |
G |
9: 121,794,091 (GRCm39) |
R82G |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
H2-T9 |
A |
G |
17: 36,439,823 (GRCm39) |
Y104H |
probably benign |
Het |
Itgav |
C |
T |
2: 83,614,198 (GRCm39) |
R519W |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
Or2y8 |
T |
C |
11: 52,036,004 (GRCm39) |
M118V |
probably damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
Or5m13 |
C |
A |
2: 85,748,938 (GRCm39) |
T223K |
probably benign |
Het |
Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
Pyroxd1 |
G |
A |
6: 142,304,169 (GRCm39) |
G307S |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,419,783 (GRCm39) |
Y443F |
probably damaging |
Het |
Rpusd4 |
C |
A |
9: 35,184,057 (GRCm39) |
S237R |
probably benign |
Het |
Sdk2 |
A |
C |
11: 113,725,734 (GRCm39) |
W1172G |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
Vmn1r193 |
A |
G |
13: 22,403,245 (GRCm39) |
I249T |
possibly damaging |
Het |
|
Other mutations in Lrrc40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00432:Lrrc40
|
APN |
3 |
157,754,087 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00501:Lrrc40
|
APN |
3 |
157,766,919 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00727:Lrrc40
|
APN |
3 |
157,769,508 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01349:Lrrc40
|
APN |
3 |
157,764,302 (GRCm39) |
splice site |
probably benign |
|
IGL02377:Lrrc40
|
APN |
3 |
157,742,365 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
IGL02490:Lrrc40
|
APN |
3 |
157,768,336 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02657:Lrrc40
|
APN |
3 |
157,742,410 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02879:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
IGL02944:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
IGL02954:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
IGL02966:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
IGL03004:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
IGL03032:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
IGL03112:Lrrc40
|
APN |
3 |
157,747,302 (GRCm39) |
intron |
probably benign |
|
IGL03163:Lrrc40
|
APN |
3 |
157,747,224 (GRCm39) |
missense |
possibly damaging |
0.82 |
I2288:Lrrc40
|
UTSW |
3 |
157,758,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R0266:Lrrc40
|
UTSW |
3 |
157,747,298 (GRCm39) |
critical splice donor site |
probably null |
|
R0355:Lrrc40
|
UTSW |
3 |
157,746,108 (GRCm39) |
missense |
probably damaging |
0.99 |
R0457:Lrrc40
|
UTSW |
3 |
157,760,201 (GRCm39) |
splice site |
probably null |
|
R0968:Lrrc40
|
UTSW |
3 |
157,742,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:Lrrc40
|
UTSW |
3 |
157,742,441 (GRCm39) |
missense |
probably benign |
0.38 |
R1962:Lrrc40
|
UTSW |
3 |
157,746,086 (GRCm39) |
missense |
probably benign |
0.01 |
R4614:Lrrc40
|
UTSW |
3 |
157,760,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Lrrc40
|
UTSW |
3 |
157,766,967 (GRCm39) |
nonsense |
probably null |
|
R4857:Lrrc40
|
UTSW |
3 |
157,771,866 (GRCm39) |
utr 3 prime |
probably benign |
|
R4947:Lrrc40
|
UTSW |
3 |
157,769,472 (GRCm39) |
missense |
probably benign |
0.00 |
R5148:Lrrc40
|
UTSW |
3 |
157,760,206 (GRCm39) |
splice site |
probably null |
|
R5673:Lrrc40
|
UTSW |
3 |
157,754,035 (GRCm39) |
splice site |
probably null |
|
R6354:Lrrc40
|
UTSW |
3 |
157,766,901 (GRCm39) |
nonsense |
probably null |
|
R6382:Lrrc40
|
UTSW |
3 |
157,764,333 (GRCm39) |
missense |
probably damaging |
0.98 |
R6713:Lrrc40
|
UTSW |
3 |
157,769,350 (GRCm39) |
missense |
probably benign |
0.00 |
R7081:Lrrc40
|
UTSW |
3 |
157,742,442 (GRCm39) |
missense |
probably damaging |
0.98 |
R7098:Lrrc40
|
UTSW |
3 |
157,747,276 (GRCm39) |
missense |
probably benign |
0.29 |
R7484:Lrrc40
|
UTSW |
3 |
157,746,194 (GRCm39) |
missense |
probably benign |
0.14 |
R8043:Lrrc40
|
UTSW |
3 |
157,769,397 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8093:Lrrc40
|
UTSW |
3 |
157,757,419 (GRCm39) |
nonsense |
probably null |
|
R8461:Lrrc40
|
UTSW |
3 |
157,764,371 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9564:Lrrc40
|
UTSW |
3 |
157,746,078 (GRCm39) |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTTTGAGGTATAGCATTAGCACTGC -3'
(R):5'- TCTGAAATGTGACTACACATCTGCTTCC -3'
Sequencing Primer
(F):5'- GCTGGGAAATTCCATTCACTATG -3'
(R):5'- ATTAACTTGGCTGTCAGGGAAG -3'
|
Posted On |
2013-07-30 |