Incidental Mutation 'R7821:Lrrc8d'
| ID |
601859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
045875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105960210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 207
(S207P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060531]
[ENSMUST00000120847]
[ENSMUST00000127686]
[ENSMUST00000154807]
[ENSMUST00000156630]
|
| AlphaFold |
Q8BGR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060531
AA Change: S207P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: S207P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3733
|
1 |
65 |
5.6e-31 |
PFAM |
|
Pfam:DUF3733
|
138 |
197 |
2e-24 |
PFAM |
|
transmembrane domain
|
366 |
388 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
490 |
607 |
1.13e-8 |
PROSPERO |
|
LRR
|
658 |
681 |
1.23e0 |
SMART |
|
LRR
|
683 |
705 |
2.03e1 |
SMART |
|
LRR_TYP
|
706 |
729 |
9.58e-3 |
SMART |
|
LRR
|
730 |
751 |
2.47e2 |
SMART |
|
LRR
|
752 |
775 |
1.76e-1 |
SMART |
|
LRR
|
776 |
797 |
1.01e2 |
SMART |
|
LRR
|
798 |
821 |
3.29e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120847
AA Change: S207P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: S207P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pannexin_like
|
1 |
385 |
2.2e-160 |
PFAM |
|
internal_repeat_1
|
490 |
607 |
1.13e-8 |
PROSPERO |
|
LRR
|
658 |
681 |
1.23e0 |
SMART |
|
LRR
|
683 |
705 |
2.03e1 |
SMART |
|
LRR_TYP
|
706 |
729 |
9.58e-3 |
SMART |
|
LRR
|
730 |
751 |
2.47e2 |
SMART |
|
LRR
|
752 |
775 |
1.76e-1 |
SMART |
|
LRR
|
776 |
797 |
1.01e2 |
SMART |
|
LRR
|
798 |
821 |
3.29e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127686
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154807
|
| SMART Domains |
Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3733
|
1 |
65 |
1.8e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156630
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,120,929 (GRCm39) |
T112S |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,298,950 (GRCm39) |
S2320R |
probably benign |
Het |
| Abca7 |
TGGTGCGTGAG |
TG |
10: 79,838,424 (GRCm39) |
|
probably benign |
Het |
| Adh7 |
T |
A |
3: 137,932,136 (GRCm39) |
I250N |
probably damaging |
Het |
| Albfm1 |
T |
C |
5: 90,740,747 (GRCm39) |
V560A |
possibly damaging |
Het |
| Aoc1 |
T |
A |
6: 48,882,745 (GRCm39) |
I229N |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,106,951 (GRCm39) |
Y291* |
probably null |
Het |
| Cacnb4 |
T |
C |
2: 52,324,520 (GRCm39) |
D514G |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,486 (GRCm39) |
Q81R |
possibly damaging |
Het |
| Clec2g |
A |
G |
6: 128,925,740 (GRCm39) |
T50A |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,741,458 (GRCm39) |
E2487G |
probably damaging |
Het |
| D130040H23Rik |
A |
T |
8: 69,752,887 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,087,879 (GRCm39) |
S14N |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,414,352 (GRCm39) |
T821I |
probably benign |
Het |
| Dhcr24 |
T |
C |
4: 106,428,633 (GRCm39) |
S138P |
possibly damaging |
Het |
| Dhrs9 |
G |
A |
2: 69,224,782 (GRCm39) |
G157R |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,411,678 (GRCm39) |
D3682E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,314,443 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,403,261 (GRCm39) |
H4L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,939,113 (GRCm38) |
I2319V |
probably benign |
Het |
| Foxe1 |
T |
C |
4: 46,344,578 (GRCm39) |
W129R |
probably damaging |
Het |
| Foxred2 |
G |
A |
15: 77,827,550 (GRCm39) |
P603L |
probably benign |
Het |
| Fshr |
A |
G |
17: 89,293,641 (GRCm39) |
S346P |
probably damaging |
Het |
| Galnt2 |
T |
A |
8: 125,070,134 (GRCm39) |
S550R |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,274,559 (GRCm39) |
S312P |
probably benign |
Het |
| Gpr150 |
C |
A |
13: 76,204,511 (GRCm39) |
A145S |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,867,553 (GRCm39) |
W173R |
probably damaging |
Het |
| Hoxb9 |
C |
G |
11: 96,162,537 (GRCm39) |
P57R |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,954 (GRCm39) |
Q563R |
probably benign |
Het |
| Ighv1-58 |
A |
G |
12: 115,275,796 (GRCm39) |
F114S |
possibly damaging |
Het |
| Klra9 |
T |
A |
6: 130,162,563 (GRCm39) |
I158F |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,320 (GRCm39) |
E1929G |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,346,221 (GRCm39) |
M89T |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,927,208 (GRCm39) |
I20V |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,916,917 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,855 (GRCm39) |
D269G |
probably benign |
Het |
| Pfkp |
T |
A |
13: 6,647,908 (GRCm39) |
N556I |
probably damaging |
Het |
| Pidd1 |
A |
T |
7: 141,022,193 (GRCm39) |
S199T |
probably benign |
Het |
| Pik3r2 |
T |
A |
8: 71,222,408 (GRCm39) |
I515F |
probably damaging |
Het |
| Plcxd2 |
T |
A |
16: 45,785,524 (GRCm39) |
I294F |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,158,303 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,385,300 (GRCm39) |
I812V |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,462,537 (GRCm39) |
|
probably null |
Het |
| Rsad1 |
A |
C |
11: 94,435,288 (GRCm39) |
D266E |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,088,705 (GRCm39) |
V485E |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,556,196 (GRCm39) |
Y451N |
probably damaging |
Het |
| Slc7a11 |
A |
T |
3: 50,335,476 (GRCm39) |
I354N |
probably damaging |
Het |
| Spryd7 |
A |
T |
14: 61,783,129 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,499 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,179,601 (GRCm39) |
D214V |
probably damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,209,289 (GRCm39) |
I119V |
probably benign |
Het |
| Trim5 |
G |
A |
7: 103,927,633 (GRCm39) |
T169I |
probably benign |
Het |
| Ttc33 |
T |
C |
15: 5,241,506 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
A |
T |
15: 37,997,431 (GRCm39) |
S1741T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,907,975 (GRCm39) |
N694S |
probably benign |
Het |
| Zfp174 |
T |
A |
16: 3,666,041 (GRCm39) |
I102N |
probably damaging |
Het |
| Zfp354a |
T |
C |
11: 50,960,539 (GRCm39) |
F248S |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,302,098 (GRCm39) |
C404S |
probably damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,723,000 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lrrc8d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00765:Lrrc8d
|
APN |
5 |
105,959,818 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01327:Lrrc8d
|
APN |
5 |
105,960,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Lrrc8d
|
APN |
5 |
105,960,253 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02228:Lrrc8d
|
APN |
5 |
105,959,730 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02551:Lrrc8d
|
APN |
5 |
105,961,414 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02605:Lrrc8d
|
APN |
5 |
105,974,683 (GRCm39) |
intron |
noncoding transcript |
|
|
heehaw
|
UTSW |
5 |
105,960,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hoot
|
UTSW |
5 |
105,959,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Lrrc8d
|
UTSW |
5 |
105,960,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Lrrc8d
|
UTSW |
5 |
105,960,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Lrrc8d
|
UTSW |
5 |
105,959,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Lrrc8d
|
UTSW |
5 |
105,974,782 (GRCm39) |
missense |
unknown |
|
|
R1754:Lrrc8d
|
UTSW |
5 |
105,960,523 (GRCm39) |
missense |
probably benign |
|
|
R3411:Lrrc8d
|
UTSW |
5 |
105,974,572 (GRCm39) |
intron |
noncoding transcript |
|
|
R3605:Lrrc8d
|
UTSW |
5 |
105,974,873 (GRCm39) |
missense |
unknown |
|
|
R3705:Lrrc8d
|
UTSW |
5 |
105,961,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3798:Lrrc8d
|
UTSW |
5 |
105,960,355 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3951:Lrrc8d
|
UTSW |
5 |
105,962,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4300:Lrrc8d
|
UTSW |
5 |
105,961,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4953:Lrrc8d
|
UTSW |
5 |
105,961,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5211:Lrrc8d
|
UTSW |
5 |
105,961,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5436:Lrrc8d
|
UTSW |
5 |
105,960,418 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5512:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Lrrc8d
|
UTSW |
5 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5514:Lrrc8d
|
UTSW |
5 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5514:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Lrrc8d
|
UTSW |
5 |
105,945,536 (GRCm39) |
intron |
probably benign |
|
|
R5929:Lrrc8d
|
UTSW |
5 |
105,960,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6063:Lrrc8d
|
UTSW |
5 |
105,959,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6379:Lrrc8d
|
UTSW |
5 |
105,960,675 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6431:Lrrc8d
|
UTSW |
5 |
105,959,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Lrrc8d
|
UTSW |
5 |
105,960,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Lrrc8d
|
UTSW |
5 |
105,960,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Lrrc8d
|
UTSW |
5 |
105,960,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8528:Lrrc8d
|
UTSW |
5 |
105,960,352 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8976:Lrrc8d
|
UTSW |
5 |
105,960,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Lrrc8d
|
UTSW |
5 |
105,961,959 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9116:Lrrc8d
|
UTSW |
5 |
105,961,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Lrrc8d
|
UTSW |
5 |
105,960,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Lrrc8d
|
UTSW |
5 |
105,960,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9388:Lrrc8d
|
UTSW |
5 |
105,961,862 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9796:Lrrc8d
|
UTSW |
5 |
105,959,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF003:Lrrc8d
|
UTSW |
5 |
105,960,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Lrrc8d
|
UTSW |
5 |
105,959,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACTTGGATTTTCAGCAGTAC -3'
(R):5'- TGCTGGGAACTTCGATCACC -3'
Sequencing Primer
(F):5'- TCAGCAGTACGTATTTATCAATCAG -3'
(R):5'- GGGAACTTCGATCACCGGTTTC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation