Incidental Mutation 'R9150:Lrrc8e'
| ID |
694967 |
| 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 |
068938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4276827-4287470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 4286030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 752
(K752Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000053035]
[ENSMUST00000062686]
[ENSMUST00000110994]
[ENSMUST00000110995]
[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: K752Q
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000052055
Gene: ENSMUSG00000046589
AA Change: K752Q
| 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: ENSMUST00000110994
|
| SMART Domains |
Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110995
|
| SMART Domains |
Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
|
low complexity region
|
346 |
366 |
N/A |
INTRINSIC |
|
| 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
|
| Meta Mutation Damage Score |
0.0784 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
CTCCGGTGAGTGCCTCATCC |
CTCC |
5: 137,553,354 (GRCm39) |
|
probably null |
Het |
| Ampd1 |
A |
T |
3: 102,988,359 (GRCm39) |
I101F |
possibly damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,673,614 (GRCm39) |
V92A |
possibly damaging |
Het |
| Arih1 |
C |
A |
9: 59,344,069 (GRCm39) |
L189F |
possibly damaging |
Het |
| B4galt3 |
A |
G |
1: 171,103,899 (GRCm39) |
R379G |
probably benign |
Het |
| Capn12 |
A |
G |
7: 28,590,378 (GRCm39) |
N642D |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,299 (GRCm39) |
H207R |
probably benign |
Het |
| Dcps |
A |
T |
9: 35,035,938 (GRCm39) |
L316H |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,825,103 (GRCm39) |
Y142C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,755,791 (GRCm39) |
V821E |
probably benign |
Het |
| Fam181a |
A |
T |
12: 103,282,139 (GRCm39) |
N15Y |
probably damaging |
Het |
| Gm26657 |
G |
T |
4: 56,740,835 (GRCm39) |
E7* |
probably null |
Het |
| Gm8267 |
A |
T |
14: 44,955,362 (GRCm39) |
S220T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,831,251 (GRCm39) |
G784R |
probably benign |
Het |
| Grm2 |
A |
G |
9: 106,524,657 (GRCm39) |
L215P |
|
Het |
| Gtpbp1 |
A |
G |
15: 79,592,165 (GRCm39) |
D252G |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,103,448 (GRCm39) |
V1135A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,498,205 (GRCm39) |
T397A |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,991,208 (GRCm39) |
T201A |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,502,110 (GRCm39) |
N85K |
|
Het |
| Mdga1 |
T |
C |
17: 30,057,420 (GRCm39) |
T92A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,387,820 (GRCm39) |
D421E |
probably benign |
Het |
| Oga |
A |
T |
19: 45,771,421 (GRCm39) |
V50E |
probably benign |
Het |
| Or13g1 |
G |
C |
7: 85,955,942 (GRCm39) |
F126L |
probably damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,005 (GRCm39) |
C169* |
probably null |
Het |
| Or5m3 |
A |
T |
2: 85,838,626 (GRCm39) |
K169* |
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,336 (GRCm39) |
M258K |
probably damaging |
Het |
| Pcdhga5 |
A |
C |
18: 37,827,933 (GRCm39) |
N127T |
probably damaging |
Het |
| Phyhipl |
A |
T |
10: 70,404,887 (GRCm39) |
V107E |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,786,256 (GRCm39) |
R2383C |
|
Het |
| Ppp1r16a |
G |
A |
15: 76,575,054 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,531 (GRCm39) |
Y158C |
probably benign |
Het |
| Rnf41 |
T |
C |
10: 128,272,399 (GRCm39) |
V142A |
|
Het |
| Sgcd |
C |
T |
11: 46,870,170 (GRCm39) |
V264I |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,992,763 (GRCm39) |
S247P |
probably benign |
Het |
| Slc17a7 |
T |
G |
7: 44,820,167 (GRCm39) |
Y241D |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,915 (GRCm39) |
K724* |
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,101 (GRCm39) |
I537F |
possibly damaging |
Het |
| Sp140l2 |
T |
A |
1: 85,091,359 (GRCm39) |
Q33L |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,244,468 (GRCm39) |
R189Q |
unknown |
Het |
| Srd5a3 |
T |
A |
5: 76,297,615 (GRCm39) |
L139Q |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,985 (GRCm39) |
Y38* |
probably null |
Het |
| Tln2 |
A |
T |
9: 67,128,778 (GRCm39) |
M1437K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,687,401 (GRCm39) |
I467T |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,398,691 (GRCm39) |
I599N |
probably damaging |
Het |
| Trmt112 |
T |
A |
19: 6,887,620 (GRCm39) |
L23Q |
probably damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,056 (GRCm39) |
N178K |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,375,850 (GRCm39) |
Y476C |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,274 (GRCm39) |
W83R |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,367,783 (GRCm39) |
H403L |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,586,809 (GRCm39) |
I167N |
probably benign |
Het |
| Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,039,603 (GRCm39) |
Q401* |
probably null |
Het |
| Zfp715 |
T |
A |
7: 42,948,713 (GRCm39) |
I416F |
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 |
|
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'- GCCTGCTGGATTTATCCCAC -3'
(R):5'- ATGTAAAGGCCTCTGTGTCAG -3'
Sequencing Primer
(F):5'- GCTGGATTTATCCCACAACGG -3'
(R):5'- GCCTCTGTGTCAGCCTGC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation