Incidental Mutation 'R3605:Lrrc8d'
| ID |
269045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8d
|
| Ensembl Gene |
ENSMUSG00000046079 |
| Gene Name |
leucine rich repeat containing 8D |
| Synonyms |
2810473G09Rik, 4930525N13Rik, Lrrc5 |
| MMRRC Submission |
040670-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
105847829-105963081 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105974873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 93
(C93Y)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
Q8BGR2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000055994
AA Change: C93Y
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140081
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
C |
T |
3: 96,589,497 (GRCm39) |
Q239* |
probably null |
Het |
| Arid4b |
T |
C |
13: 14,294,826 (GRCm39) |
V36A |
probably damaging |
Het |
| Art2b |
T |
A |
7: 101,229,152 (GRCm39) |
N249I |
probably benign |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,609,939 (GRCm39) |
T53A |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,077 (GRCm39) |
T1016S |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 187,943,299 (GRCm39) |
H424R |
possibly damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Flrt3 |
T |
A |
2: 140,503,287 (GRCm39) |
N114Y |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,815,253 (GRCm39) |
V3662A |
probably benign |
Het |
| Gabra6 |
T |
A |
11: 42,205,777 (GRCm39) |
I359F |
probably benign |
Het |
| Gal |
A |
G |
19: 3,464,026 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5814 |
G |
T |
17: 47,721,430 (GRCm39) |
R48L |
probably damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,788 (GRCm39) |
G584D |
unknown |
Het |
| Iqgap1 |
T |
C |
7: 80,373,537 (GRCm39) |
D1484G |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kprp |
C |
A |
3: 92,731,588 (GRCm39) |
Q487H |
unknown |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Mnt |
T |
A |
11: 74,727,746 (GRCm39) |
S211T |
possibly damaging |
Het |
| Mtdh |
T |
A |
15: 34,114,258 (GRCm39) |
|
probably benign |
Het |
| Nxt1 |
T |
C |
2: 148,517,399 (GRCm39) |
W47R |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,168 (GRCm39) |
I70F |
probably benign |
Het |
| Or5k3 |
T |
C |
16: 58,969,846 (GRCm39) |
I211T |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,763,477 (GRCm39) |
D313G |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rpap2 |
A |
G |
5: 107,768,395 (GRCm39) |
D411G |
probably damaging |
Het |
| Sapcd1 |
A |
G |
17: 35,246,781 (GRCm39) |
F36L |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,066,542 (GRCm39) |
S3181T |
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,938,960 (GRCm39) |
T314I |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,894,467 (GRCm39) |
C685* |
probably null |
Het |
| Tk2 |
A |
G |
8: 104,957,803 (GRCm39) |
V181A |
possibly damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,661,788 (GRCm39) |
|
probably null |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,819,508 (GRCm39) |
L151* |
probably null |
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 |
|
|
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 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5512:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Lrrc8d
|
UTSW |
5 |
105,960,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Lrrc8d
|
UTSW |
5 |
105,960,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
R7821:Lrrc8d
|
UTSW |
5 |
105,960,210 (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'- TGCCAGGACTCAATTCCTATC -3'
(R):5'- ACTAGCTAGTGACAAGGCCC -3'
Sequencing Primer
(F):5'- CAGGACTCAATTCCTATCAGGTTCAG -3'
(R):5'- TAGTGACAAGGCCCCGGAG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation