Incidental Mutation 'IGL02657:Lrrc40'
| ID |
302373 |
| 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: 0.129)
|
| Stock # |
IGL02657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
157742319-157772727 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 157742410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 16
(F16L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069025]
[ENSMUST00000072080]
[ENSMUST00000121326]
[ENSMUST00000126716]
[ENSMUST00000200540]
[ENSMUST00000150525]
[ENSMUST00000156597]
[ENSMUST00000137444]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069025
|
| SMART Domains |
Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072080
AA Change: F16L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: F16L
| 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 |
unknown
Transcript: ENSMUST00000131518
AA Change: F17L
|
| SMART Domains |
Protein: ENSMUSP00000121417
Gene: ENSMUSG00000063052
AA Change: F17L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
80 |
110 |
2e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200540
AA Change: F8L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150525
AA Change: F16L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052
AA Change: F16L
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fqva2
|
81 |
111 |
3e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156597
AA Change: F16L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133090
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198192
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197292
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
G |
A |
11: 117,725,648 (GRCm39) |
V120M |
possibly damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,567,776 (GRCm39) |
L680P |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,138,104 (GRCm39) |
D410E |
probably benign |
Het |
| Amt |
T |
A |
9: 108,178,579 (GRCm39) |
V365E |
probably damaging |
Het |
| Ano9 |
A |
G |
7: 140,687,353 (GRCm39) |
S321P |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,771 (GRCm39) |
I767F |
probably damaging |
Het |
| Bag1 |
A |
T |
4: 40,936,643 (GRCm39) |
Y338N |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,990,796 (GRCm39) |
D767E |
probably benign |
Het |
| Chfr |
A |
T |
5: 110,302,705 (GRCm39) |
Q350L |
probably damaging |
Het |
| Cops3 |
A |
T |
11: 59,721,043 (GRCm39) |
L124H |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,437,149 (GRCm39) |
Y988H |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,975,479 (GRCm39) |
|
probably benign |
Het |
| Dym |
C |
T |
18: 75,215,527 (GRCm39) |
Q238* |
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,193,945 (GRCm39) |
C1341S |
possibly damaging |
Het |
| Fryl |
G |
T |
5: 73,212,203 (GRCm39) |
N2308K |
probably benign |
Het |
| Gbp2b |
G |
T |
3: 142,309,873 (GRCm39) |
R221L |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,269,251 (GRCm39) |
N8S |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,545,972 (GRCm39) |
K2360R |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,574,561 (GRCm39) |
W327R |
probably damaging |
Het |
| Ift52 |
A |
G |
2: 162,887,135 (GRCm39) |
D379G |
probably damaging |
Het |
| Inhbe |
C |
A |
10: 127,186,645 (GRCm39) |
L178F |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,212 (GRCm39) |
Y913H |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,099,968 (GRCm39) |
D1507E |
possibly damaging |
Het |
| Lnx2 |
A |
G |
5: 146,964,984 (GRCm39) |
V413A |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 19,432,581 (GRCm39) |
K99E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,495,461 (GRCm39) |
I357M |
probably benign |
Het |
| Med30 |
A |
G |
15: 52,582,761 (GRCm39) |
Y66C |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,783 (GRCm39) |
S118C |
probably damaging |
Het |
| Mylip |
A |
G |
13: 45,544,722 (GRCm39) |
S49G |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,528,972 (GRCm39) |
D107V |
probably damaging |
Het |
| Nvl |
C |
A |
1: 180,934,541 (GRCm39) |
V655F |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,508,645 (GRCm39) |
T501I |
probably benign |
Het |
| Ormdl2 |
T |
C |
10: 128,656,186 (GRCm39) |
I40V |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,568,142 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
C |
12: 55,720,292 (GRCm39) |
L1785W |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,341,078 (GRCm39) |
|
probably null |
Het |
| Sema3c |
A |
T |
5: 17,781,866 (GRCm39) |
M1L |
possibly damaging |
Het |
| Sema3c |
T |
A |
5: 17,867,972 (GRCm39) |
Y128N |
probably damaging |
Het |
| Sema4b |
G |
A |
7: 79,866,789 (GRCm39) |
G255D |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,394,997 (GRCm39) |
|
probably benign |
Het |
| Sirpb1a |
A |
C |
3: 15,482,111 (GRCm39) |
S72R |
possibly damaging |
Het |
| Slu7 |
T |
A |
11: 43,332,849 (GRCm39) |
|
probably null |
Het |
| Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Suclg1 |
T |
A |
6: 73,237,504 (GRCm39) |
V83E |
probably damaging |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Tap2 |
T |
C |
17: 34,424,432 (GRCm39) |
V55A |
probably damaging |
Het |
| Tekt4 |
T |
C |
17: 25,692,732 (GRCm39) |
I186T |
possibly damaging |
Het |
| Trpc6 |
C |
A |
9: 8,643,602 (GRCm39) |
D462E |
possibly damaging |
Het |
| Ubqln3 |
T |
G |
7: 103,791,170 (GRCm39) |
T307P |
probably damaging |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,727 (GRCm39) |
I272K |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,166,026 (GRCm39) |
T574A |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,247,859 (GRCm39) |
T1021A |
possibly damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,501 (GRCm39) |
H159L |
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 |
|
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 |
|
V1662:Lrrc40
|
UTSW |
3 |
157,758,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation