Incidental Mutation 'R9255:Lrrc8e'
| ID |
701807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc8e
|
| Ensembl Gene |
ENSMUSG00000046589 |
| Gene Name |
leucine rich repeat containing 8 family, member E |
| Synonyms |
1810049O03Rik, C87354 |
| MMRRC Submission |
068961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4284504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 243
(H243L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000053035]
[ENSMUST00000062686]
[ENSMUST00000110998]
[ENSMUST00000110999]
[ENSMUST00000145165]
[ENSMUST00000207770]
|
| AlphaFold |
Q66JT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003027
|
| SMART Domains |
Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
|
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
low complexity region
|
435 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053035
AA Change: H243L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: H243L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pannexin_like
|
1 |
330 |
3.8e-143 |
PFAM |
|
low complexity region
|
504 |
516 |
N/A |
INTRINSIC |
|
LRR
|
603 |
627 |
3.97e0 |
SMART |
|
LRR
|
628 |
650 |
2.33e2 |
SMART |
|
LRR_TYP
|
651 |
674 |
6.08e-5 |
SMART |
|
LRR
|
676 |
696 |
6.78e1 |
SMART |
|
LRR_TYP
|
697 |
720 |
2.43e-4 |
SMART |
|
LRR
|
721 |
742 |
1.09e2 |
SMART |
|
LRR_TYP
|
743 |
766 |
9.44e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062686
|
| SMART Domains |
Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
|
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110998
|
| SMART Domains |
Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
|
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110999
|
| SMART Domains |
Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
|
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145165
|
| SMART Domains |
Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
|
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207770
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,626,795 (GRCm39) |
Y549C |
probably damaging |
Het |
| Abca13 |
A |
C |
11: 9,278,213 (GRCm39) |
N3131T |
probably damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,145 (GRCm39) |
V775A |
probably benign |
Het |
| Actn3 |
T |
A |
19: 4,921,820 (GRCm39) |
I149F |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 69,036,199 (GRCm39) |
M154K |
possibly damaging |
Het |
| Agbl1 |
A |
T |
7: 76,416,150 (GRCm39) |
M976L |
unknown |
Het |
| Agbl3 |
T |
A |
6: 34,789,840 (GRCm39) |
M531K |
probably damaging |
Het |
| Armc8 |
A |
C |
9: 99,379,441 (GRCm39) |
M495R |
possibly damaging |
Het |
| Astn2 |
T |
A |
4: 65,563,085 (GRCm39) |
K899* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,107,148 (GRCm39) |
H727Q |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,519,401 (GRCm39) |
I564V |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,409,237 (GRCm39) |
H183Q |
probably benign |
Het |
| Celf3 |
T |
C |
3: 94,392,594 (GRCm39) |
F98L |
probably benign |
Het |
| Chrd |
G |
A |
16: 20,558,801 (GRCm39) |
C845Y |
probably damaging |
Het |
| Clec1a |
T |
G |
6: 129,409,208 (GRCm39) |
K139N |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,019,103 (GRCm39) |
N130K |
possibly damaging |
Het |
| Cog1 |
A |
T |
11: 113,547,019 (GRCm39) |
T538S |
probably benign |
Het |
| Cog8 |
A |
G |
8: 107,779,383 (GRCm39) |
I298T |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,164,102 (GRCm39) |
W72R |
probably damaging |
Het |
| Elapor1 |
T |
C |
3: 108,376,864 (GRCm39) |
R453G |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,284,609 (GRCm39) |
N563K |
possibly damaging |
Het |
| Foxn1 |
C |
A |
11: 78,252,399 (GRCm39) |
E330* |
probably null |
Het |
| Fzd7 |
G |
T |
1: 59,522,495 (GRCm39) |
R126L |
possibly damaging |
Het |
| Gmnn |
A |
G |
13: 24,937,351 (GRCm39) |
Y147H |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,980,186 (GRCm39) |
N83S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,889,173 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,261,972 (GRCm39) |
D2691G |
probably benign |
Het |
| Ifi203 |
A |
T |
1: 173,756,787 (GRCm39) |
I332N |
unknown |
Het |
| Inpp1 |
A |
G |
1: 52,829,306 (GRCm39) |
S238P |
probably benign |
Het |
| Jmy |
A |
G |
13: 93,589,894 (GRCm39) |
|
probably null |
Het |
| Kcnab3 |
C |
T |
11: 69,222,337 (GRCm39) |
Q327* |
probably null |
Het |
| Kctd1 |
A |
G |
18: 15,194,853 (GRCm39) |
V590A |
probably benign |
Het |
| Lsr |
A |
G |
7: 30,657,670 (GRCm39) |
L498S |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,843,556 (GRCm39) |
D268G |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,598,287 (GRCm39) |
V203A |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,604,051 (GRCm39) |
I212N |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,737 (GRCm39) |
I46T |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,423 (GRCm39) |
F103S |
probably damaging |
Het |
| Or8g30 |
T |
C |
9: 39,230,487 (GRCm39) |
Y141C |
probably benign |
Het |
| Pabpc6 |
T |
C |
17: 9,886,769 (GRCm39) |
E594G |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,176,989 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,325,938 (GRCm39) |
I113T |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
C |
3: 94,906,219 (GRCm39) |
S589P |
probably damaging |
Het |
| Pik3ca |
G |
A |
3: 32,496,981 (GRCm39) |
|
probably null |
Het |
| Plekhg4 |
A |
T |
8: 106,103,271 (GRCm39) |
M315L |
probably benign |
Het |
| Proz |
G |
A |
8: 13,123,472 (GRCm39) |
V248M |
possibly damaging |
Het |
| Prss1 |
T |
C |
6: 41,438,183 (GRCm39) |
Y37H |
probably damaging |
Het |
| R3hdml |
T |
A |
2: 163,337,612 (GRCm39) |
W89R |
probably damaging |
Het |
| Ranbp3l |
A |
G |
15: 9,057,293 (GRCm39) |
T319A |
probably benign |
Het |
| Scn4a |
C |
T |
11: 106,215,054 (GRCm39) |
A1246T |
probably damaging |
Het |
| Sdr42e1 |
T |
A |
8: 118,389,999 (GRCm39) |
Y214F |
probably benign |
Het |
| Slc10a2 |
C |
T |
8: 5,148,565 (GRCm39) |
V127I |
probably benign |
Het |
| Slc16a1 |
T |
A |
3: 104,560,148 (GRCm39) |
M151K |
possibly damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,818,525 (GRCm39) |
M171K |
possibly damaging |
Het |
| Styk1 |
A |
G |
6: 131,286,946 (GRCm39) |
V183A |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tspan18 |
T |
G |
2: 93,040,200 (GRCm39) |
D185A |
probably benign |
Het |
| Tti2 |
T |
A |
8: 31,645,570 (GRCm39) |
F320Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,621 (GRCm39) |
I17798M |
probably damaging |
Het |
| Ube2j1 |
C |
A |
4: 33,036,759 (GRCm39) |
H28N |
probably benign |
Het |
| Vmn1r195 |
A |
C |
13: 22,463,342 (GRCm39) |
I271L |
possibly damaging |
Het |
| Vmn2r81 |
A |
C |
10: 79,103,166 (GRCm39) |
T120P |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,673,965 (GRCm39) |
Y348F |
possibly damaging |
Het |
| Wtip |
A |
G |
7: 33,824,908 (GRCm39) |
|
probably null |
Het |
| Zc3h12d |
C |
T |
10: 7,729,022 (GRCm39) |
H129Y |
probably damaging |
Het |
| Zfp600 |
T |
G |
4: 146,131,673 (GRCm39) |
S114A |
possibly damaging |
Het |
|
| Other mutations in Lrrc8e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Lrrc8e
|
APN |
8 |
4,285,921 (GRCm39) |
missense |
probably benign |
|
|
IGL00943:Lrrc8e
|
APN |
8 |
4,285,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00979:Lrrc8e
|
APN |
8 |
4,285,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Lrrc8e
|
APN |
8 |
4,284,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01458:Lrrc8e
|
APN |
8 |
4,286,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02524:Lrrc8e
|
APN |
8 |
4,285,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02831:Lrrc8e
|
APN |
8 |
4,285,429 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03135:Lrrc8e
|
APN |
8 |
4,285,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Lrrc8e
|
UTSW |
8 |
4,285,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Lrrc8e
|
UTSW |
8 |
4,285,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0312:Lrrc8e
|
UTSW |
8 |
4,285,733 (GRCm39) |
missense |
probably benign |
|
|
R0601:Lrrc8e
|
UTSW |
8 |
4,285,239 (GRCm39) |
splice site |
probably null |
|
|
R1167:Lrrc8e
|
UTSW |
8 |
4,285,337 (GRCm39) |
missense |
probably benign |
|
|
R1405:Lrrc8e
|
UTSW |
8 |
4,281,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Lrrc8e
|
UTSW |
8 |
4,281,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Lrrc8e
|
UTSW |
8 |
4,284,990 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1677:Lrrc8e
|
UTSW |
8 |
4,284,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Lrrc8e
|
UTSW |
8 |
4,285,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2185:Lrrc8e
|
UTSW |
8 |
4,284,986 (GRCm39) |
nonsense |
probably null |
|
|
R2290:Lrrc8e
|
UTSW |
8 |
4,281,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3424:Lrrc8e
|
UTSW |
8 |
4,284,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Lrrc8e
|
UTSW |
8 |
4,283,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Lrrc8e
|
UTSW |
8 |
4,285,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Lrrc8e
|
UTSW |
8 |
4,284,329 (GRCm39) |
missense |
probably benign |
|
|
R5516:Lrrc8e
|
UTSW |
8 |
4,285,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Lrrc8e
|
UTSW |
8 |
4,285,725 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6687:Lrrc8e
|
UTSW |
8 |
4,284,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Lrrc8e
|
UTSW |
8 |
4,286,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7344:Lrrc8e
|
UTSW |
8 |
4,284,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Lrrc8e
|
UTSW |
8 |
4,285,626 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7555:Lrrc8e
|
UTSW |
8 |
4,284,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7691:Lrrc8e
|
UTSW |
8 |
4,284,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8112:Lrrc8e
|
UTSW |
8 |
4,285,575 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8184:Lrrc8e
|
UTSW |
8 |
4,285,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8328:Lrrc8e
|
UTSW |
8 |
4,285,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Lrrc8e
|
UTSW |
8 |
4,284,018 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8487:Lrrc8e
|
UTSW |
8 |
4,284,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Lrrc8e
|
UTSW |
8 |
4,285,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8971:Lrrc8e
|
UTSW |
8 |
4,284,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Lrrc8e
|
UTSW |
8 |
4,284,410 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9150:Lrrc8e
|
UTSW |
8 |
4,286,030 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9225:Lrrc8e
|
UTSW |
8 |
4,284,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Lrrc8e
|
UTSW |
8 |
4,283,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9463:Lrrc8e
|
UTSW |
8 |
4,285,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9475:Lrrc8e
|
UTSW |
8 |
4,285,346 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Lrrc8e
|
UTSW |
8 |
4,284,822 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGTGTCTGGAGAAAATCAC -3'
(R):5'- TGCAGCAGAAACTGGCATACC -3'
Sequencing Primer
(F):5'- ATCACAAGGGCCCAGCTTCTG -3'
(R):5'- GGCATACCCCGTGATCTCTGATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation