Incidental Mutation 'IGL03163:Lrrc40'
ID |
411526 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03163
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 157747224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 112
(I112T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072080]
[ENSMUST00000121326]
[ENSMUST00000126716]
[ENSMUST00000156597]
[ENSMUST00000150525]
[ENSMUST00000200540]
[ENSMUST00000137444]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072080
AA Change: I112T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000071956 Gene: ENSMUSG00000063052 AA Change: I112T
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 |
noncoding transcript
Transcript: ENSMUST00000089922
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121326
|
SMART Domains |
Protein: ENSMUSP00000113685 Gene: ENSMUSG00000055436
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
low complexity region
|
40 |
59 |
N/A |
INTRINSIC |
RRM
|
62 |
136 |
3.13e-7 |
SMART |
low complexity region
|
152 |
176 |
N/A |
INTRINSIC |
low complexity region
|
179 |
202 |
N/A |
INTRINSIC |
low complexity region
|
274 |
352 |
N/A |
INTRINSIC |
low complexity region
|
362 |
444 |
N/A |
INTRINSIC |
low complexity region
|
463 |
470 |
N/A |
INTRINSIC |
low complexity region
|
500 |
509 |
N/A |
INTRINSIC |
|
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: ENSMUST00000126716
|
SMART Domains |
Protein: ENSMUSP00000114370 Gene: ENSMUSG00000055436
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
RRM
|
27 |
101 |
3.13e-7 |
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 |
noncoding transcript
Transcript: ENSMUST00000133090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197292
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156597
|
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: ENSMUST00000200540
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137444
|
SMART Domains |
Protein: ENSMUSP00000122686 Gene: ENSMUSG00000055436
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
24 |
N/A |
INTRINSIC |
RRM
|
27 |
101 |
3.13e-7 |
SMART |
low complexity region
|
117 |
141 |
N/A |
INTRINSIC |
low complexity region
|
144 |
167 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
probably 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 |
|
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 |
V1662:Lrrc40
|
UTSW |
3 |
157,758,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |