Incidental Mutation 'IGL02833:Lrrd1'
| ID |
361546 |
| 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: 0.082)
|
| Stock # |
IGL02833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3900709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 338
(E338G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
[ENSMUST00000143027]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044039
AA Change: E338G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: E338G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,289,371 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
T |
9: 95,744,905 (GRCm39) |
H74L |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,465,255 (GRCm39) |
H1673L |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,853,771 (GRCm39) |
I495K |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 135,998,743 (GRCm39) |
I213F |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,962,332 (GRCm39) |
S316P |
possibly damaging |
Het |
| Ces1b |
G |
A |
8: 93,806,038 (GRCm39) |
P68S |
probably damaging |
Het |
| Cilp |
A |
G |
9: 65,185,206 (GRCm39) |
I434V |
probably benign |
Het |
| Csgalnact2 |
A |
G |
6: 118,106,229 (GRCm39) |
Y30H |
probably damaging |
Het |
| Defb7 |
T |
C |
8: 19,545,140 (GRCm39) |
V6A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 92,080,335 (GRCm39) |
L841F |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,642,468 (GRCm39) |
N130S |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,833,732 (GRCm39) |
D1863V |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,376,897 (GRCm39) |
R1561G |
possibly damaging |
Het |
| Fads2b |
G |
T |
2: 85,332,551 (GRCm39) |
R158S |
possibly damaging |
Het |
| Gstt4 |
G |
T |
10: 75,658,174 (GRCm39) |
F28L |
probably damaging |
Het |
| Hectd1 |
G |
T |
12: 51,810,864 (GRCm39) |
D1690E |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,282,441 (GRCm39) |
S3394P |
probably benign |
Het |
| Ift25 |
T |
C |
4: 107,132,492 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,911,610 (GRCm39) |
C1910S |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,708,516 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
T |
7: 125,449,584 (GRCm39) |
R883* |
probably null |
Het |
| Kif1b |
C |
T |
4: 149,330,821 (GRCm39) |
V612M |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,791,723 (GRCm39) |
D205E |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,735,270 (GRCm39) |
H750L |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,436,121 (GRCm39) |
S801P |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,051,998 (GRCm39) |
M980K |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,146,831 (GRCm39) |
V314I |
probably benign |
Het |
| Or2y3 |
T |
C |
17: 38,393,243 (GRCm39) |
K209E |
possibly damaging |
Het |
| Or5d43 |
C |
A |
2: 88,104,776 (GRCm39) |
V206F |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,619 (GRCm39) |
T32A |
probably benign |
Het |
| Pdk1 |
A |
G |
2: 71,727,989 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,500 (GRCm39) |
S125P |
probably damaging |
Het |
| Pigu |
T |
C |
2: 155,187,565 (GRCm39) |
|
probably benign |
Het |
| Prr16 |
T |
A |
18: 51,436,164 (GRCm39) |
H214Q |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,800,715 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
A |
G |
8: 111,538,609 (GRCm39) |
|
probably null |
Het |
| Sp4 |
T |
C |
12: 118,225,616 (GRCm39) |
I583V |
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,234,569 (GRCm39) |
T224A |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tmem119 |
T |
A |
5: 113,933,432 (GRCm39) |
Y123F |
probably damaging |
Het |
| Umps |
A |
T |
16: 33,782,523 (GRCm39) |
L133* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,177,343 (GRCm39) |
T179S |
probably benign |
Het |
| Vtcn1 |
T |
A |
3: 100,795,701 (GRCm39) |
Y223N |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,853 (GRCm39) |
M567T |
probably damaging |
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 |
|
IGL02223:Lrrd1
|
APN |
5 |
3,900,211 (GRCm39) |
missense |
probably benign |
|
|
IGL02477:Lrrd1
|
APN |
5 |
3,915,770 (GRCm39) |
missense |
probably benign |
|
|
IGL02609:Lrrd1
|
APN |
5 |
3,908,803 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
2015-12-18 |
Incidental Mutation