Incidental Mutation 'R9208:Lrrd1'
| ID |
698626 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrd1
|
| Ensembl Gene |
ENSMUSG00000040367 |
| Gene Name |
leucine rich repeats and death domain containing 1 |
| Synonyms |
4932412H11Rik |
| MMRRC Submission |
068982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R9208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3895173-3916596 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3900995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 433
(H433Q)
|
| 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: H433Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: H433Q
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
T |
A |
12: 84,153,358 (GRCm39) |
L200Q |
possibly damaging |
Het |
| Apbb1 |
A |
G |
7: 105,208,727 (GRCm39) |
S569P |
probably damaging |
Het |
| Atl3 |
A |
G |
19: 7,487,447 (GRCm39) |
I121V |
probably benign |
Het |
| C87436 |
A |
G |
6: 86,423,227 (GRCm39) |
D267G |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,472,482 (GRCm39) |
I1617F |
possibly damaging |
Het |
| Cic |
T |
C |
7: 24,987,502 (GRCm39) |
F1397L |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,756,465 (GRCm39) |
M203K |
probably benign |
Het |
| Clock |
A |
G |
5: 76,384,871 (GRCm39) |
S449P |
probably benign |
Het |
| Cse1l |
C |
A |
2: 166,783,185 (GRCm39) |
N743K |
probably damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,583 (GRCm39) |
I77T |
probably damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,932 (GRCm39) |
I443V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,176,684 (GRCm39) |
V1246A |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 149,002,698 (GRCm39) |
E37G |
probably benign |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Ecpas |
A |
T |
4: 58,875,444 (GRCm39) |
D173E |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,217,503 (GRCm39) |
W949R |
possibly damaging |
Het |
| Fam13c |
A |
G |
10: 70,388,869 (GRCm39) |
E465G |
probably damaging |
Het |
| Fam83d |
T |
A |
2: 158,610,466 (GRCm39) |
C145S |
probably damaging |
Het |
| Fbln7 |
T |
A |
2: 128,737,343 (GRCm39) |
V386E |
probably damaging |
Het |
| Fpr3 |
A |
T |
17: 18,191,131 (GRCm39) |
Q134L |
probably damaging |
Het |
| Gm3636 |
T |
A |
14: 17,955,001 (GRCm39) |
R5S |
possibly damaging |
Het |
| Gna15 |
A |
G |
10: 81,345,224 (GRCm39) |
S214P |
probably benign |
Het |
| Hdac9 |
A |
G |
12: 34,220,101 (GRCm39) |
M897T |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,436,600 (GRCm39) |
N424D |
probably benign |
Het |
| Krtap27-1 |
A |
G |
16: 88,468,316 (GRCm39) |
V76A |
possibly damaging |
Het |
| Ltn1 |
T |
C |
16: 87,197,298 (GRCm39) |
D1180G |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,577,925 (GRCm39) |
C20R |
unknown |
Het |
| Mphosph9 |
T |
C |
5: 124,450,854 (GRCm39) |
N306D |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,327 (GRCm39) |
R328G |
probably benign |
Het |
| Mslnl |
C |
T |
17: 25,961,694 (GRCm39) |
P117S |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,419,833 (GRCm39) |
K117M |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,532,664 (GRCm39) |
N430S |
probably benign |
Het |
| Myl1 |
T |
C |
1: 66,973,683 (GRCm39) |
I8V |
probably benign |
Het |
| Ncdn |
A |
T |
4: 126,644,041 (GRCm39) |
D260E |
probably benign |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,114 (GRCm39) |
R291S |
probably damaging |
Het |
| Nr4a2 |
A |
G |
2: 56,999,093 (GRCm39) |
V448A |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,616 (GRCm39) |
E647G |
possibly damaging |
Het |
| Or4c12 |
C |
A |
2: 89,773,725 (GRCm39) |
V245L |
possibly damaging |
Het |
| Or52a5b |
A |
G |
7: 103,417,478 (GRCm39) |
I42T |
probably benign |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,120 (GRCm39) |
M33T |
possibly damaging |
Het |
| Or8s10 |
C |
A |
15: 98,335,614 (GRCm39) |
A88E |
probably benign |
Het |
| Patj |
A |
T |
4: 98,427,310 (GRCm39) |
I172F |
unknown |
Het |
| Per1 |
T |
C |
11: 68,995,636 (GRCm39) |
S739P |
possibly damaging |
Het |
| Plekhn1 |
A |
C |
4: 156,306,859 (GRCm39) |
V510G |
possibly damaging |
Het |
| Plxna4 |
A |
T |
6: 32,494,379 (GRCm39) |
V79D |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,859,801 (GRCm39) |
T123A |
probably benign |
Het |
| Ptpn23 |
C |
A |
9: 110,237,101 (GRCm39) |
|
probably null |
Het |
| Rcbtb2 |
C |
T |
14: 73,414,500 (GRCm39) |
S437L |
probably damaging |
Het |
| Resf1 |
C |
T |
6: 149,228,027 (GRCm39) |
L358F |
probably damaging |
Het |
| Rxfp4 |
T |
A |
3: 88,559,390 (GRCm39) |
R354* |
probably null |
Het |
| Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,281,359 (GRCm39) |
D317V |
probably damaging |
Het |
| Slco5a1 |
A |
G |
1: 13,059,802 (GRCm39) |
|
probably null |
Het |
| Snx14 |
T |
A |
9: 88,265,832 (GRCm39) |
T768S |
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,353,462 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
T |
6: 83,528,954 (GRCm39) |
A364T |
probably damaging |
Het |
| Tgm3 |
T |
A |
2: 129,865,618 (GRCm39) |
I6N |
possibly damaging |
Het |
| Tmem106b |
A |
T |
6: 13,082,430 (GRCm39) |
T202S |
probably damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,450 (GRCm39) |
V205A |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,614,922 (GRCm39) |
R136* |
probably null |
Het |
| Trim46 |
T |
C |
3: 89,142,466 (GRCm39) |
T674A |
possibly damaging |
Het |
| Trmt13 |
T |
A |
3: 116,376,356 (GRCm39) |
Y345F |
possibly damaging |
Het |
| Tspyl4 |
A |
G |
10: 34,173,568 (GRCm39) |
H20R |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,571,419 (GRCm39) |
|
probably null |
Het |
| Vmn1r192 |
A |
T |
13: 22,371,401 (GRCm39) |
F273Y |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,298 (GRCm39) |
I330N |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,394,551 (GRCm39) |
F679L |
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 |
|
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 |
|
|
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'- AAGAACTCAGGCTGCTTAACCTTG -3'
(R):5'- CTGAACGACATGTCCACAGG -3'
Sequencing Primer
(F):5'- CCCACTGCGTAAATTTGG -3'
(R):5'- CCCCACTGGGAAATACAT -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation