Incidental Mutation 'R9778:Lrrd1'
| ID |
733829 |
| 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 # |
R9778 (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 C
at 3899982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 96
(S96R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044039]
[ENSMUST00000143027]
[ENSMUST00000200386]
|
| AlphaFold |
Q8C0R9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044039
AA Change: S96R
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: S96R
| 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 |
possibly damaging
Transcript: ENSMUST00000143027
AA Change: S96R
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122668
Gene: ENSMUSG00000040367
AA Change: S96R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200386
|
| SMART Domains |
Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX_5
|
22 |
198 |
8.1e-85 |
PFAM |
|
ANK
|
306 |
334 |
7.5e-4 |
SMART |
|
B41
|
368 |
592 |
9.1e-42 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
T |
8: 125,366,098 (GRCm39) |
I215N |
probably damaging |
Het |
| Aig1 |
T |
C |
10: 13,528,757 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
T |
A |
3: 89,861,865 (GRCm39) |
K82N |
possibly damaging |
Het |
| Cacnb4 |
T |
G |
2: 52,359,615 (GRCm39) |
Y131S |
probably damaging |
Het |
| Cep170b |
G |
A |
12: 112,697,864 (GRCm39) |
S62N |
possibly damaging |
Het |
| Crmp1 |
A |
G |
5: 37,422,619 (GRCm39) |
D142G |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,260,957 (GRCm39) |
Q716R |
possibly damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,087,133 (GRCm39) |
T483A |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,503,565 (GRCm39) |
F247L |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 39,008,586 (GRCm39) |
L396P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,353,240 (GRCm39) |
M2798V |
probably benign |
Het |
| E030018B13Rik |
A |
T |
7: 63,569,125 (GRCm39) |
T58S |
unknown |
Het |
| Eipr1 |
T |
C |
12: 28,897,657 (GRCm39) |
|
probably null |
Het |
| Elf1 |
C |
T |
14: 79,817,948 (GRCm39) |
T526M |
possibly damaging |
Het |
| Gm8369 |
GTGTGTGTGTGTGTGTGTGTG |
GTGTGTGTGTGTGTGTGTGTGTG |
19: 11,489,128 (GRCm39) |
|
probably null |
Het |
| Got1 |
A |
G |
19: 43,504,284 (GRCm39) |
S46P |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,775,160 (GRCm39) |
I786T |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,279,892 (GRCm39) |
I703M |
probably damaging |
Het |
| Krt222 |
A |
T |
11: 99,125,838 (GRCm39) |
S264R |
probably benign |
Het |
| Ltb |
C |
A |
17: 35,414,906 (GRCm39) |
Y235* |
probably null |
Het |
| Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
| Mlycd |
T |
A |
8: 120,129,325 (GRCm39) |
I264N |
probably damaging |
Het |
| Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,349,021 (GRCm39) |
K487* |
probably null |
Het |
| Myh13 |
T |
C |
11: 67,249,016 (GRCm39) |
I1274T |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,258,444 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
C |
A |
15: 8,321,032 (GRCm39) |
A2692S |
probably benign |
Het |
| Odf2l |
C |
T |
3: 144,854,789 (GRCm39) |
T542I |
possibly damaging |
Het |
| Or10a49 |
A |
G |
7: 108,467,698 (GRCm39) |
I221T |
probably damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,145 (GRCm39) |
I77N |
probably damaging |
Het |
| Oxsm |
T |
C |
14: 16,242,629 (GRCm38) |
T47A |
possibly damaging |
Het |
| Pcdhga3 |
A |
T |
18: 37,807,786 (GRCm39) |
S80C |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,512,176 (GRCm39) |
T1377A |
probably benign |
Het |
| Phactr3 |
C |
A |
2: 177,924,805 (GRCm39) |
Q252K |
possibly damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,101 (GRCm39) |
H385R |
unknown |
Het |
| Pkd1l3 |
A |
T |
8: 110,357,937 (GRCm39) |
T820S |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,887,966 (GRCm39) |
H353Q |
|
Het |
| Prss37 |
T |
A |
6: 40,494,713 (GRCm39) |
E24V |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,155,943 (GRCm39) |
F2183S |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,051,407 (GRCm39) |
D480G |
probably damaging |
Het |
| Slc8a2 |
C |
T |
7: 15,887,124 (GRCm39) |
T672M |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,961,666 (GRCm39) |
T1062A |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,223,609 (GRCm39) |
E18G |
possibly damaging |
Het |
| Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
| Srf |
C |
A |
17: 46,860,079 (GRCm39) |
G482V |
possibly damaging |
Het |
| Styk1 |
G |
A |
6: 131,287,992 (GRCm39) |
Q124* |
probably null |
Het |
| Tcf7l1 |
G |
T |
6: 72,608,226 (GRCm39) |
A385E |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,913,495 (GRCm39) |
S142P |
probably benign |
Het |
| Tlr1 |
G |
A |
5: 65,083,371 (GRCm39) |
S402F |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,769,635 (GRCm39) |
H475R |
probably benign |
Het |
| Trmt10b |
A |
T |
4: 45,314,374 (GRCm39) |
N272I |
probably damaging |
Het |
| Ubxn7 |
A |
T |
16: 32,200,471 (GRCm39) |
N409I |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,837,930 (GRCm39) |
E2538G |
probably damaging |
Het |
| Vmn1r65 |
C |
T |
7: 6,011,387 (GRCm39) |
W282* |
probably null |
Het |
| Vmn2r4 |
A |
G |
3: 64,322,497 (GRCm39) |
I74T |
probably benign |
Het |
| Wdr97 |
T |
A |
15: 76,241,125 (GRCm39) |
F574I |
|
Het |
| Zfp949 |
T |
C |
9: 88,449,340 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- GGAGGAGCCTGGATCTGAAATATC -3'
(R):5'- TCTACAGGGAATTCTTGTAAACCC -3'
Sequencing Primer
(F):5'- TCAGATCTCTTGGATGAAGCTTC -3'
(R):5'- CAGGGAATTCTTGTAAACCCTTGGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation