Incidental Mutation 'R9471:Lrrd1'
| ID |
715453 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrd1
|
| Ensembl Gene |
ENSMUSG00000040367 |
| Gene Name |
leucine rich repeats and death domain containing 1 |
| Synonyms |
4932412H11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R9471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3913980 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 750
(D750V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: D750V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,565,319 (GRCm39) |
K368E |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,558,365 (GRCm39) |
T448A |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,271,473 (GRCm39) |
P337S |
probably benign |
Het |
| Alg12 |
G |
A |
15: 88,690,621 (GRCm39) |
Q406* |
probably null |
Het |
| Anapc5 |
T |
C |
5: 122,944,308 (GRCm39) |
Y302C |
probably damaging |
Het |
| Apol7a |
A |
G |
15: 77,273,680 (GRCm39) |
S261P |
possibly damaging |
Het |
| Atad5 |
G |
T |
11: 80,023,524 (GRCm39) |
K1545N |
possibly damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,467,941 (GRCm39) |
D42E |
probably benign |
Het |
| Bcl6 |
T |
A |
16: 23,791,857 (GRCm39) |
N166Y |
probably benign |
Het |
| Btbd7 |
C |
T |
12: 102,760,145 (GRCm39) |
R601Q |
probably damaging |
Het |
| Casp1 |
A |
G |
9: 5,304,187 (GRCm39) |
E287G |
probably benign |
Het |
| Cd300c |
A |
T |
11: 114,847,216 (GRCm39) |
V193E |
probably damaging |
Het |
| Cd300lg |
T |
A |
11: 101,944,920 (GRCm39) |
S377T |
probably benign |
Het |
| Ceacam13 |
T |
A |
7: 17,753,012 (GRCm39) |
*264R |
probably null |
Het |
| Clasrp |
G |
A |
7: 19,319,172 (GRCm39) |
R498* |
probably null |
Het |
| Clec4n |
T |
A |
6: 123,221,505 (GRCm39) |
N146K |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,968,019 (GRCm39) |
V746E |
possibly damaging |
Het |
| Defa29 |
T |
C |
8: 21,816,901 (GRCm39) |
T31A |
possibly damaging |
Het |
| Egr4 |
A |
G |
6: 85,489,695 (GRCm39) |
S122P |
possibly damaging |
Het |
| Fam221a |
T |
G |
6: 49,349,520 (GRCm39) |
D28E |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,000,897 (GRCm39) |
T1161I |
possibly damaging |
Het |
| Fcsk |
T |
C |
8: 111,610,041 (GRCm39) |
E991G |
probably benign |
Het |
| Frat2 |
A |
G |
19: 41,836,113 (GRCm39) |
S80P |
probably benign |
Het |
| Gse1 |
C |
A |
8: 121,301,845 (GRCm39) |
S985R |
unknown |
Het |
| H2-M3 |
T |
A |
17: 37,581,988 (GRCm39) |
I148N |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 119,376,235 (GRCm39) |
V137L |
probably damaging |
Het |
| Ighv1-42 |
T |
A |
12: 114,900,927 (GRCm39) |
M53L |
probably benign |
Het |
| Klhl24 |
C |
T |
16: 19,941,735 (GRCm39) |
T561I |
|
Het |
| Klhl26 |
C |
G |
8: 70,904,803 (GRCm39) |
G369A |
probably damaging |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Mc5r |
A |
G |
18: 68,472,127 (GRCm39) |
D162G |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,234,559 (GRCm39) |
S1026R |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,436,195 (GRCm39) |
H1945R |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 57,002,114 (GRCm39) |
M113T |
probably benign |
Het |
| Obox2 |
G |
A |
7: 15,131,113 (GRCm39) |
G73D |
probably damaging |
Het |
| Or1af1 |
G |
A |
2: 37,110,400 (GRCm39) |
A300T |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,355 (GRCm39) |
C152* |
probably null |
Het |
| Pappa2 |
C |
T |
1: 158,642,029 (GRCm39) |
M1342I |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,202,039 (GRCm39) |
L44Q |
probably damaging |
Het |
| Pnpla1 |
A |
T |
17: 29,099,973 (GRCm39) |
Q280L |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,749 (GRCm39) |
T347S |
probably damaging |
Het |
| Prdm1 |
C |
T |
10: 44,326,174 (GRCm39) |
G117S |
probably damaging |
Het |
| Prss36 |
A |
T |
7: 127,545,605 (GRCm39) |
F6I |
probably benign |
Het |
| Sat2 |
A |
G |
11: 69,513,725 (GRCm39) |
Y81C |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,962,677 (GRCm39) |
D67G |
probably benign |
Het |
| Shank2 |
G |
A |
7: 143,964,752 (GRCm39) |
V787M |
possibly damaging |
Het |
| Stoml1 |
A |
T |
9: 58,163,968 (GRCm39) |
I96F |
probably damaging |
Het |
| Tet2 |
C |
T |
3: 133,191,680 (GRCm39) |
G918D |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,869,444 (GRCm39) |
I8V |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,237,531 (GRCm39) |
R43K |
probably damaging |
Het |
| Trim44 |
T |
C |
2: 102,230,651 (GRCm39) |
S127G |
unknown |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Vmn2r67 |
A |
C |
7: 84,799,723 (GRCm39) |
|
probably null |
Het |
| Wdr90 |
C |
A |
17: 26,080,015 (GRCm39) |
V107L |
possibly damaging |
Het |
| Zfp316 |
T |
C |
5: 143,241,161 (GRCm39) |
D286G |
unknown |
Het |
| Zfp981 |
C |
A |
4: 146,622,080 (GRCm39) |
P335Q |
probably benign |
Het |
| Zscan18 |
T |
C |
7: 12,508,343 (GRCm39) |
T386A |
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 |
|
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 |
|
|
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'- TCTGCATGCATAGCTTCTGATG -3'
(R):5'- TTAGATATTCCAATCCCCTGAGAC -3'
Sequencing Primer
(F):5'- GCATGCATAGCTTCTGATGCTACAG -3'
(R):5'- TTCCAATCCCCTGAGACTAAATAATC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation