Incidental Mutation 'R5169:Lrrc8e'
| ID |
397447 |
| 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 |
042749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5169 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4284329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 185
(T185A)
|
| 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 benign
Transcript: ENSMUST00000053035
AA Change: T185A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: T185A
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,841,552 (GRCm39) |
Y964* |
probably null |
Het |
| Acsbg2 |
T |
C |
17: 57,156,913 (GRCm39) |
K375R |
probably benign |
Het |
| Ago4 |
C |
A |
4: 126,405,520 (GRCm39) |
R415L |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,750 (GRCm39) |
I1176N |
probably damaging |
Het |
| Arhgap25 |
A |
T |
6: 87,440,252 (GRCm39) |
I465N |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,980,051 (GRCm39) |
D97G |
possibly damaging |
Het |
| Cdc37 |
T |
A |
9: 21,052,413 (GRCm39) |
M299L |
probably benign |
Het |
| Ddx54 |
C |
A |
5: 120,761,328 (GRCm39) |
H453Q |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,102,994 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,415,074 (GRCm39) |
F1939L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,345,202 (GRCm39) |
F631L |
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,655,403 (GRCm39) |
Y597* |
probably null |
Het |
| Kctd1 |
T |
C |
18: 15,195,822 (GRCm39) |
E267G |
possibly damaging |
Het |
| Maco1 |
T |
C |
4: 134,555,774 (GRCm39) |
H233R |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,690,571 (GRCm39) |
I276T |
probably damaging |
Het |
| Med17 |
A |
T |
9: 15,188,900 (GRCm39) |
F122I |
probably benign |
Het |
| Milr1 |
C |
T |
11: 106,645,754 (GRCm39) |
R99* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,169,256 (GRCm39) |
|
probably null |
Het |
| Ms4a4d |
C |
T |
19: 11,535,340 (GRCm39) |
P213S |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,650,818 (GRCm39) |
N1100S |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,502,889 (GRCm39) |
I322T |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,198,231 (GRCm39) |
Q1287* |
probably null |
Het |
| Nr3c2 |
A |
T |
8: 77,635,666 (GRCm39) |
N256Y |
probably damaging |
Het |
| Nrde2 |
A |
G |
12: 100,095,552 (GRCm39) |
|
probably null |
Het |
| Otog |
G |
T |
7: 45,947,572 (GRCm39) |
A2242S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,415 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdh8 |
G |
A |
14: 80,005,095 (GRCm39) |
P880S |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,129,632 (GRCm39) |
|
probably null |
Het |
| Phkb |
A |
G |
8: 86,623,120 (GRCm39) |
H148R |
probably benign |
Het |
| Pik3r4 |
T |
C |
9: 105,555,360 (GRCm39) |
S1106P |
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 24,940,321 (GRCm39) |
M1067L |
probably benign |
Het |
| Pp2d1 |
C |
A |
17: 53,814,930 (GRCm39) |
G598V |
possibly damaging |
Het |
| Ppm1d |
C |
T |
11: 85,223,196 (GRCm39) |
A267V |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,945,578 (GRCm39) |
P383S |
probably damaging |
Het |
| Rc3h2 |
A |
T |
2: 37,295,324 (GRCm39) |
F231I |
probably damaging |
Het |
| Rpl14 |
T |
A |
9: 120,401,254 (GRCm39) |
D32E |
possibly damaging |
Het |
| Rpl32 |
G |
T |
6: 115,783,949 (GRCm39) |
N92K |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,829,457 (GRCm39) |
N391S |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,501,005 (GRCm39) |
E3563K |
possibly damaging |
Het |
| Sh3rf2 |
A |
G |
18: 42,286,126 (GRCm39) |
M508V |
probably benign |
Het |
| Shoc1 |
T |
A |
4: 59,059,618 (GRCm39) |
Y1014F |
possibly damaging |
Het |
| Slc24a3 |
G |
A |
2: 145,482,184 (GRCm39) |
C614Y |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,309 (GRCm39) |
S486P |
probably damaging |
Het |
| Spi1 |
A |
T |
2: 90,945,428 (GRCm39) |
K170* |
probably null |
Het |
| Srgn |
C |
A |
10: 62,330,866 (GRCm39) |
D80Y |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,504,857 (GRCm39) |
K87R |
possibly damaging |
Het |
| Sytl3 |
A |
T |
17: 6,982,945 (GRCm39) |
K134* |
probably null |
Het |
| Szt2 |
T |
C |
4: 118,247,027 (GRCm39) |
T863A |
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,992,181 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
A |
15: 66,550,629 (GRCm39) |
L253* |
probably null |
Het |
| Timm8a2 |
T |
A |
14: 122,272,138 (GRCm39) |
S14T |
probably benign |
Het |
| Tppp3 |
G |
C |
8: 106,194,501 (GRCm39) |
N166K |
probably benign |
Het |
| Trav2 |
G |
A |
14: 52,804,759 (GRCm39) |
V4M |
probably benign |
Het |
| Trmt5 |
T |
C |
12: 73,329,495 (GRCm39) |
D221G |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,054,690 (GRCm39) |
L332* |
probably null |
Het |
| V1rd19 |
A |
G |
7: 23,703,209 (GRCm39) |
N225S |
possibly damaging |
Het |
| Wdr20rt |
A |
T |
12: 65,274,184 (GRCm39) |
Q448L |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,657,515 (GRCm39) |
N185I |
probably benign |
Het |
| Zmpste24 |
A |
T |
4: 120,925,914 (GRCm39) |
I351N |
probably 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 |
|
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 |
|
R9255:Lrrc8e
|
UTSW |
8 |
4,284,504 (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'- GCCAAATACTTCCCCTACTTGG -3'
(R):5'- AGGATGTCACCCTCTTCCAC -3'
Sequencing Primer
(F):5'- CCCTACTTGGTGGTTATCCATAC -3'
(R):5'- ACGTGCACTCGGAACTTTTTGAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation