Incidental Mutation 'IGL02223:Lrrd1'
| ID |
285244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrd1
|
| Ensembl Gene |
ENSMUSG00000040367 |
| Gene Name |
leucine rich repeats and death domain containing 1 |
| Synonyms |
4932412H11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL02223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 3900211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 172
(N172T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
[ENSMUST00000143027]
[ENSMUST00000200386]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044039
AA Change: N172T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: N172T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
165 |
N/A |
INTRINSIC |
|
LRR
|
181 |
203 |
3.18e1 |
SMART |
|
LRR
|
204 |
226 |
7.8e1 |
SMART |
|
LRR
|
227 |
249 |
5.26e0 |
SMART |
|
LRR
|
250 |
272 |
3.98e1 |
SMART |
|
LRR
|
273 |
294 |
2.33e1 |
SMART |
|
LRR
|
296 |
318 |
2.14e1 |
SMART |
|
LRR_TYP
|
319 |
342 |
1.45e-2 |
SMART |
|
LRR
|
365 |
388 |
4.44e0 |
SMART |
|
LRR
|
389 |
410 |
2.76e1 |
SMART |
|
LRR
|
411 |
433 |
8.73e1 |
SMART |
|
LRR
|
434 |
457 |
3.55e1 |
SMART |
|
LRR
|
480 |
503 |
1.45e1 |
SMART |
|
LRR
|
526 |
548 |
1.31e0 |
SMART |
|
LRR
|
549 |
571 |
3.65e1 |
SMART |
|
LRR
|
572 |
594 |
6.22e0 |
SMART |
|
LRR
|
595 |
618 |
2.68e1 |
SMART |
|
LRR
|
644 |
665 |
1.15e1 |
SMART |
|
LRR
|
667 |
689 |
8.01e0 |
SMART |
|
LRR
|
690 |
713 |
1.53e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143027
|
| SMART Domains |
Protein: ENSMUSP00000122668
Gene: ENSMUSG00000040367
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200386
|
| SMART Domains |
Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX_5
|
22 |
198 |
8.1e-85 |
PFAM |
|
ANK
|
306 |
334 |
7.5e-4 |
SMART |
|
B41
|
368 |
592 |
9.1e-42 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,506,909 (GRCm39) |
W1148* |
probably null |
Het |
| Adam17 |
A |
G |
12: 21,411,706 (GRCm39) |
S62P |
possibly damaging |
Het |
| Akap8 |
T |
C |
17: 32,535,621 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,049,721 (GRCm39) |
N48S |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,915,966 (GRCm39) |
T241A |
probably damaging |
Het |
| Cct7 |
G |
T |
6: 85,439,023 (GRCm39) |
M112I |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,221,481 (GRCm39) |
A198T |
probably damaging |
Het |
| Crk |
T |
C |
11: 75,594,205 (GRCm39) |
V264A |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,932,584 (GRCm39) |
T1071A |
probably benign |
Het |
| Dlst |
A |
G |
12: 85,177,692 (GRCm39) |
I362V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,163,955 (GRCm39) |
E3100G |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
| Foxe3 |
C |
A |
4: 114,782,906 (GRCm39) |
R102L |
probably damaging |
Het |
| Gale |
T |
C |
4: 135,693,817 (GRCm39) |
F162S |
probably damaging |
Het |
| Gipc2 |
G |
A |
3: 151,833,687 (GRCm39) |
P198L |
probably damaging |
Het |
| Gm5258 |
A |
G |
1: 86,251,118 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch11 |
A |
G |
17: 79,152,608 (GRCm39) |
T259A |
probably benign |
Het |
| H2-M10.3 |
T |
C |
17: 36,678,972 (GRCm39) |
N32S |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,340,171 (GRCm39) |
I999V |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,592,419 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
A |
G |
9: 44,697,609 (GRCm39) |
S165G |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,873,897 (GRCm39) |
S389P |
probably damaging |
Het |
| Mamdc2 |
G |
A |
19: 23,336,507 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,864 (GRCm39) |
N574S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,048,702 (GRCm39) |
D683G |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,484 (GRCm39) |
E236G |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,861,967 (GRCm39) |
I202F |
probably damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,487,202 (GRCm39) |
Y129* |
probably null |
Het |
| Nlrp5 |
T |
C |
7: 23,129,447 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
G |
A |
9: 21,904,908 (GRCm39) |
R293C |
probably damaging |
Het |
| Or5k14 |
C |
T |
16: 58,693,057 (GRCm39) |
G152E |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,652,006 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,265 (GRCm39) |
S179P |
probably benign |
Het |
| Rexo4 |
C |
A |
2: 26,845,511 (GRCm39) |
C369F |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,209,993 (GRCm39) |
N692D |
possibly damaging |
Het |
| Scmh1 |
C |
A |
4: 120,372,416 (GRCm39) |
H406Q |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,445,060 (GRCm39) |
D372G |
probably damaging |
Het |
| Snip1 |
T |
C |
4: 124,966,545 (GRCm39) |
F325S |
possibly damaging |
Het |
| Spr-ps1 |
C |
T |
6: 85,132,181 (GRCm39) |
|
noncoding transcript |
Het |
| Stk36 |
A |
G |
1: 74,662,496 (GRCm39) |
Y538C |
possibly damaging |
Het |
| Svil |
A |
G |
18: 5,105,879 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,155,079 (GRCm39) |
T6787A |
probably benign |
Het |
| Tbcel |
T |
G |
9: 42,363,014 (GRCm39) |
M10L |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,599,022 (GRCm39) |
Y43* |
probably null |
Het |
| Tjp1 |
C |
T |
7: 64,972,349 (GRCm39) |
R605Q |
probably damaging |
Het |
| Tmem65 |
A |
G |
15: 58,662,000 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,769,753 (GRCm39) |
|
probably benign |
Het |
| Trmt44 |
T |
C |
5: 35,731,989 (GRCm39) |
E134G |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,472,081 (GRCm39) |
L91P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,807,463 (GRCm39) |
T90I |
probably damaging |
Het |
| Yy1 |
A |
G |
12: 108,759,466 (GRCm39) |
E43G |
unknown |
Het |
|
| Other mutations in Lrrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Lrrd1
|
APN |
5 |
3,900,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00329:Lrrd1
|
APN |
5 |
3,900,081 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00674:Lrrd1
|
APN |
5 |
3,899,773 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00691:Lrrd1
|
APN |
5 |
3,913,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00839:Lrrd1
|
APN |
5 |
3,900,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00911:Lrrd1
|
APN |
5 |
3,915,689 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01754:Lrrd1
|
APN |
5 |
3,901,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01981:Lrrd1
|
APN |
5 |
3,901,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02003:Lrrd1
|
APN |
5 |
3,899,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02477:Lrrd1
|
APN |
5 |
3,915,770 (GRCm39) |
missense |
probably benign |
|
|
IGL02609:Lrrd1
|
APN |
5 |
3,908,803 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02833:Lrrd1
|
APN |
5 |
3,900,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02886:Lrrd1
|
APN |
5 |
3,901,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02896:Lrrd1
|
APN |
5 |
3,901,473 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0045:Lrrd1
|
UTSW |
5 |
3,916,418 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0138:Lrrd1
|
UTSW |
5 |
3,901,345 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0305:Lrrd1
|
UTSW |
5 |
3,915,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Lrrd1
|
UTSW |
5 |
3,900,215 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0455:Lrrd1
|
UTSW |
5 |
3,916,425 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1717:Lrrd1
|
UTSW |
5 |
3,900,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Lrrd1
|
UTSW |
5 |
3,900,483 (GRCm39) |
splice site |
probably null |
|
|
R1836:Lrrd1
|
UTSW |
5 |
3,915,709 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1951:Lrrd1
|
UTSW |
5 |
3,901,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2199:Lrrd1
|
UTSW |
5 |
3,916,478 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3751:Lrrd1
|
UTSW |
5 |
3,900,282 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3752:Lrrd1
|
UTSW |
5 |
3,900,282 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3837:Lrrd1
|
UTSW |
5 |
3,900,204 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3862:Lrrd1
|
UTSW |
5 |
3,901,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3863:Lrrd1
|
UTSW |
5 |
3,901,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3864:Lrrd1
|
UTSW |
5 |
3,901,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Lrrd1
|
UTSW |
5 |
3,901,126 (GRCm39) |
nonsense |
probably null |
|
|
R5225:Lrrd1
|
UTSW |
5 |
3,908,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5721:Lrrd1
|
UTSW |
5 |
3,900,619 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5791:Lrrd1
|
UTSW |
5 |
3,901,254 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6077:Lrrd1
|
UTSW |
5 |
3,900,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6229:Lrrd1
|
UTSW |
5 |
3,913,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6330:Lrrd1
|
UTSW |
5 |
3,900,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6588:Lrrd1
|
UTSW |
5 |
3,901,386 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6734:Lrrd1
|
UTSW |
5 |
3,900,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6932:Lrrd1
|
UTSW |
5 |
3,901,395 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7180:Lrrd1
|
UTSW |
5 |
3,901,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Lrrd1
|
UTSW |
5 |
3,916,476 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8356:Lrrd1
|
UTSW |
5 |
3,916,509 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9031:Lrrd1
|
UTSW |
5 |
3,900,963 (GRCm39) |
nonsense |
probably null |
|
|
R9208:Lrrd1
|
UTSW |
5 |
3,900,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9344:Lrrd1
|
UTSW |
5 |
3,908,819 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9381:Lrrd1
|
UTSW |
5 |
3,901,074 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9400:Lrrd1
|
UTSW |
5 |
3,899,677 (GRCm39) |
unclassified |
probably benign |
|
|
R9471:Lrrd1
|
UTSW |
5 |
3,913,980 (GRCm39) |
missense |
|
|
|
R9549:Lrrd1
|
UTSW |
5 |
3,901,473 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9557:Lrrd1
|
UTSW |
5 |
3,901,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9607:Lrrd1
|
UTSW |
5 |
3,901,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9725:Lrrd1
|
UTSW |
5 |
3,901,147 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9775:Lrrd1
|
UTSW |
5 |
3,899,897 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9778:Lrrd1
|
UTSW |
5 |
3,899,982 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9785:Lrrd1
|
UTSW |
5 |
3,908,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrrd1
|
UTSW |
5 |
3,900,025 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2015-04-16 |
Incidental Mutation