Incidental Mutation 'R0455:Lrrd1'
| ID |
39950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrd1
|
| Ensembl Gene |
ENSMUSG00000040367 |
| Gene Name |
leucine rich repeats and death domain containing 1 |
| Synonyms |
4932412H11Rik |
| MMRRC Submission |
038655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0455 (G1)
|
| Quality Score |
138 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3916425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 814
(V814E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044039
AA Change: V814E
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: V814E
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,088,180 (GRCm39) |
G342D |
possibly damaging |
Het |
| Acvr2b |
C |
T |
9: 119,261,675 (GRCm39) |
R399W |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 77,982,832 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,662,492 (GRCm39) |
V256A |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,656,454 (GRCm39) |
I732N |
probably damaging |
Het |
| C1qtnf9 |
A |
C |
14: 61,009,820 (GRCm39) |
Q25H |
probably damaging |
Het |
| Ccdc6 |
T |
A |
10: 69,978,401 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
| Chdh |
A |
G |
14: 29,756,603 (GRCm39) |
Y343C |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,421,262 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
G |
A |
13: 61,716,024 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,541,802 (GRCm39) |
D362E |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,529,082 (GRCm39) |
S273T |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,117,649 (GRCm39) |
H1274L |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,672,986 (GRCm39) |
S187P |
probably benign |
Het |
| Fam13b |
G |
A |
18: 34,578,581 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,168,408 (GRCm39) |
G2310S |
probably damaging |
Het |
| Fcna |
T |
C |
2: 25,515,520 (GRCm39) |
Y183C |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,491,056 (GRCm39) |
T263A |
probably benign |
Het |
| Gm94 |
T |
C |
18: 43,914,309 (GRCm39) |
D83G |
possibly damaging |
Het |
| Gnal |
C |
T |
18: 67,268,720 (GRCm39) |
|
probably benign |
Het |
| Grb7 |
T |
G |
11: 98,343,014 (GRCm39) |
S244A |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,477 (GRCm39) |
T458A |
probably benign |
Het |
| Hdac2 |
C |
T |
10: 36,867,832 (GRCm39) |
R193C |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,573,638 (GRCm39) |
|
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,072 (GRCm39) |
R783G |
probably benign |
Het |
| Inpp5j |
G |
T |
11: 3,453,122 (GRCm39) |
L43I |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,604,243 (GRCm39) |
T44S |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,665,036 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,297,822 (GRCm39) |
C233* |
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,025,700 (GRCm39) |
L1130P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,807,250 (GRCm39) |
F508L |
probably damaging |
Het |
| Megf10 |
C |
T |
18: 57,386,054 (GRCm39) |
P356S |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,499,538 (GRCm39) |
R31* |
probably null |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nus1 |
T |
A |
10: 52,306,190 (GRCm39) |
V42E |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,359 (GRCm39) |
I128V |
possibly damaging |
Het |
| Or2a51 |
A |
C |
6: 43,179,006 (GRCm39) |
M143L |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,523,024 (GRCm39) |
N306S |
probably damaging |
Het |
| Pex13 |
T |
C |
11: 23,605,949 (GRCm39) |
S94G |
probably benign |
Het |
| Ppm1h |
G |
T |
10: 122,638,229 (GRCm39) |
Q166H |
probably benign |
Het |
| Ptafr |
A |
T |
4: 132,307,396 (GRCm39) |
Y262F |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,377,132 (GRCm39) |
D321E |
probably damaging |
Het |
| Samsn1 |
C |
T |
16: 75,742,113 (GRCm39) |
|
noncoding transcript |
Het |
| Scarb1 |
T |
C |
5: 125,366,745 (GRCm39) |
N63D |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,340 (GRCm39) |
I249T |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,277 (GRCm39) |
K490R |
probably benign |
Het |
| Sycn |
A |
G |
7: 28,240,398 (GRCm39) |
N22D |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,167,612 (GRCm39) |
A1067T |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,405,131 (GRCm39) |
D681G |
possibly damaging |
Het |
| Usp34 |
C |
T |
11: 23,396,741 (GRCm39) |
|
probably benign |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,085 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,187,528 (GRCm39) |
M653K |
probably benign |
Het |
| Wrap73 |
T |
A |
4: 154,233,200 (GRCm39) |
S125T |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCAGGCTCATGGTGAATG -3'
(R):5'- AACAGCCCAGAGGTCAGGTTTCAG -3'
Sequencing Primer
(F):5'- GCTAACTTCAGTCTCCCATAAATGTG -3'
(R):5'- TCAGTTCTGTAAGTGCAAGGTAAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation