Incidental Mutation 'R0305:Lrrd1'
| ID |
24890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrd1
|
| Ensembl Gene |
ENSMUSG00000040367 |
| Gene Name |
leucine rich repeats and death domain containing 1 |
| Synonyms |
4932412H11Rik |
| MMRRC Submission |
038516-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R0305 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 3915707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 768
(I768S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044039
AA Change: I768S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: I768S
| 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 |
0.1544 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
G |
A |
7: 27,274,061 (GRCm39) |
R183Q |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,164,137 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
C |
2: 163,570,077 (GRCm39) |
K312R |
probably benign |
Het |
| Adam21 |
C |
A |
12: 81,607,059 (GRCm39) |
K234N |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,108,776 (GRCm39) |
|
probably null |
Het |
| Aimp1 |
T |
G |
3: 132,379,747 (GRCm39) |
K132Q |
possibly damaging |
Het |
| Aldh16a1 |
C |
T |
7: 44,797,403 (GRCm39) |
R135Q |
probably damaging |
Het |
| Alox12b |
A |
T |
11: 69,058,205 (GRCm39) |
Y519F |
probably benign |
Het |
| Alppl2 |
T |
C |
1: 87,017,324 (GRCm39) |
E25G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,062,210 (GRCm39) |
N3531I |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,391,935 (GRCm39) |
L321P |
probably damaging |
Het |
| Cab39l |
C |
T |
14: 59,757,028 (GRCm39) |
Q137* |
probably null |
Het |
| Cenpo |
A |
T |
12: 4,266,660 (GRCm39) |
H149Q |
possibly damaging |
Het |
| Cpt1a |
A |
G |
19: 3,428,455 (GRCm39) |
T610A |
probably benign |
Het |
| Dcbld2 |
A |
G |
16: 58,269,302 (GRCm39) |
T271A |
probably damaging |
Het |
| Dcps |
A |
G |
9: 35,087,065 (GRCm39) |
|
probably null |
Het |
| Dnai2 |
A |
G |
11: 114,643,720 (GRCm39) |
D462G |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,715,752 (GRCm39) |
|
probably benign |
Het |
| Eomes |
A |
T |
9: 118,313,825 (GRCm39) |
E623D |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,744,747 (GRCm39) |
H594L |
probably benign |
Het |
| Gad1-ps |
T |
G |
10: 99,280,665 (GRCm39) |
|
noncoding transcript |
Het |
| Galk2 |
A |
G |
2: 125,729,808 (GRCm39) |
Y63C |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,260 (GRCm39) |
L227P |
probably damaging |
Het |
| Itgb4 |
T |
G |
11: 115,870,238 (GRCm39) |
C73G |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,212,601 (GRCm39) |
H1472R |
possibly damaging |
Het |
| Kcnh5 |
C |
T |
12: 75,161,171 (GRCm39) |
A246T |
probably benign |
Het |
| Kpna6 |
G |
T |
4: 129,543,042 (GRCm39) |
R458S |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,206,982 (GRCm39) |
T498A |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,452,253 (GRCm39) |
V223A |
probably benign |
Het |
| Nod2 |
G |
A |
8: 89,391,951 (GRCm39) |
A731T |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,569,313 (GRCm39) |
C1403Y |
probably damaging |
Het |
| Nxph1 |
A |
T |
6: 9,247,754 (GRCm39) |
I242F |
probably damaging |
Het |
| Or5p79 |
G |
A |
7: 108,221,792 (GRCm39) |
V258I |
probably benign |
Het |
| Pgr |
A |
G |
9: 8,902,088 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,946,129 (GRCm39) |
S566P |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,866,764 (GRCm39) |
Y242C |
probably damaging |
Het |
| Sftpc |
T |
A |
14: 70,761,518 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
G |
5: 35,881,343 (GRCm39) |
E33D |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,464,819 (GRCm39) |
L344P |
probably benign |
Het |
| Slc39a5 |
T |
A |
10: 128,234,265 (GRCm39) |
|
probably benign |
Het |
| Slc7a13 |
C |
A |
4: 19,839,401 (GRCm39) |
H335N |
probably benign |
Het |
| Slco1a4 |
A |
C |
6: 141,763,479 (GRCm39) |
N412K |
possibly damaging |
Het |
| Sox1 |
A |
T |
8: 12,446,736 (GRCm39) |
T126S |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,081,663 (GRCm39) |
V353E |
probably damaging |
Het |
| Stat5b |
T |
C |
11: 100,693,329 (GRCm39) |
E104G |
probably benign |
Het |
| Sult4a1 |
A |
G |
15: 83,970,868 (GRCm39) |
V179A |
probably damaging |
Het |
| Tafa5 |
T |
A |
15: 87,604,709 (GRCm39) |
I83N |
probably damaging |
Het |
| Tbl3 |
G |
A |
17: 24,924,435 (GRCm39) |
R134C |
probably damaging |
Het |
| Tmem256 |
T |
A |
11: 69,729,737 (GRCm39) |
|
probably benign |
Het |
| Tmigd1 |
A |
G |
11: 76,797,960 (GRCm39) |
T101A |
probably damaging |
Het |
| Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,079,459 (GRCm39) |
S1679T |
probably benign |
Het |
| Vmn2r1 |
T |
G |
3: 63,997,087 (GRCm39) |
C248G |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,967 (GRCm39) |
I400V |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,246,713 (GRCm39) |
L685H |
probably damaging |
Het |
| Yeats4 |
A |
G |
10: 117,051,741 (GRCm39) |
F172S |
probably damaging |
Het |
| Zfpm2 |
T |
G |
15: 40,637,431 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGAGCAAATGAAGACAGTTCAGC -3'
(R):5'- CATATGTCATAAGCACAGGCCATCATCC -3'
Sequencing Primer
(F):5'- GACAGTTCAGCGCTATATTGTTATT -3'
(R):5'- GCCATCATCCACAGTAGCATTATG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation