Incidental Mutation 'R8198:Leng8'
ID |
635535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Leng8
|
Ensembl Gene |
ENSMUSG00000035545 |
Gene Name |
leukocyte receptor cluster (LRC) member 8 |
Synonyms |
|
MMRRC Submission |
067621-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R8198 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
4140038-4151176 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 4147170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 523
(R523S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046465
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037472]
[ENSMUST00000058358]
[ENSMUST00000117274]
[ENSMUST00000121270]
[ENSMUST00000128756]
[ENSMUST00000132086]
[ENSMUST00000144248]
[ENSMUST00000154571]
|
AlphaFold |
Q8CBY3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037472
AA Change: R523S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046465 Gene: ENSMUSG00000035545 AA Change: R523S
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
Pfam:SAC3_GANP
|
567 |
762 |
8.2e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058358
|
SMART Domains |
Protein: ENSMUSP00000061079 Gene: ENSMUSG00000043432
Domain | Start | End | E-Value | Type |
ZnF_C3H1
|
8 |
34 |
1.72e-4 |
SMART |
Pfam:DUF504
|
77 |
128 |
1.9e-11 |
PFAM |
Pfam:AKAP7_NLS
|
305 |
484 |
2.5e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117274
|
SMART Domains |
Protein: ENSMUSP00000113223 Gene: ENSMUSG00000035545
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121270
AA Change: R523S
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112428 Gene: ENSMUSG00000035545 AA Change: R523S
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
Pfam:SAC3_GANP
|
567 |
764 |
7.4e-67 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128756
|
SMART Domains |
Protein: ENSMUSP00000118832 Gene: ENSMUSG00000035545
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132086
|
SMART Domains |
Protein: ENSMUSP00000121129 Gene: ENSMUSG00000035545
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
51 |
N/A |
INTRINSIC |
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144248
|
SMART Domains |
Protein: ENSMUSP00000120574 Gene: ENSMUSG00000035545
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
low complexity region
|
346 |
359 |
N/A |
INTRINSIC |
low complexity region
|
376 |
410 |
N/A |
INTRINSIC |
low complexity region
|
416 |
431 |
N/A |
INTRINSIC |
Pfam:SAC3_GANP
|
530 |
725 |
1e-65 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154571
|
SMART Domains |
Protein: ENSMUSP00000123328 Gene: ENSMUSG00000035545
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
T |
C |
14: 41,825,017 (GRCm39) |
*168R |
probably null |
Het |
Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
Ankrd27 |
T |
C |
7: 35,307,880 (GRCm39) |
V373A |
probably benign |
Het |
Aoah |
C |
T |
13: 21,101,290 (GRCm39) |
P270L |
probably damaging |
Het |
AU041133 |
C |
G |
10: 81,987,249 (GRCm39) |
P301A |
probably damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Cd2bp2 |
A |
G |
7: 126,793,576 (GRCm39) |
S204P |
possibly damaging |
Het |
Clca4b |
C |
A |
3: 144,638,167 (GRCm39) |
G32C |
probably damaging |
Het |
Clcn2 |
A |
G |
16: 20,525,946 (GRCm39) |
V808A |
probably damaging |
Het |
Clec4d |
T |
C |
6: 123,244,965 (GRCm39) |
C82R |
probably damaging |
Het |
Dennd1c |
T |
C |
17: 57,373,460 (GRCm39) |
D671G |
possibly damaging |
Het |
Eml5 |
G |
A |
12: 98,825,145 (GRCm39) |
R691* |
probably null |
Het |
Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
Gm4922 |
T |
C |
10: 18,659,340 (GRCm39) |
T461A |
probably benign |
Het |
Gm9964 |
A |
G |
11: 79,187,405 (GRCm39) |
V14A |
unknown |
Het |
Gnb3 |
T |
C |
6: 124,814,000 (GRCm39) |
Y196C |
probably benign |
Het |
H4c2 |
C |
G |
13: 23,941,283 (GRCm39) |
Q94E |
possibly damaging |
Het |
Hps1 |
C |
T |
19: 42,755,659 (GRCm39) |
R189Q |
probably benign |
Het |
Iars2 |
G |
A |
1: 185,029,703 (GRCm39) |
T638I |
probably benign |
Het |
Itpripl2 |
A |
G |
7: 118,089,819 (GRCm39) |
S247P |
probably damaging |
Het |
Lhfpl3 |
T |
A |
5: 23,478,333 (GRCm39) |
V72D |
probably benign |
Het |
Lmntd2 |
A |
T |
7: 140,791,134 (GRCm39) |
M426K |
possibly damaging |
Het |
Lsg1 |
A |
T |
16: 30,383,594 (GRCm39) |
V542E |
probably benign |
Het |
Mphosph6 |
C |
T |
8: 118,519,449 (GRCm39) |
V108I |
probably benign |
Het |
Mta2 |
A |
G |
19: 8,925,145 (GRCm39) |
T338A |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,580,664 (GRCm39) |
N98S |
probably benign |
Het |
Or52h7 |
T |
A |
7: 104,214,140 (GRCm39) |
D237E |
probably benign |
Het |
Or7a36 |
C |
A |
10: 78,820,443 (GRCm39) |
T273K |
probably benign |
Het |
Or7a42 |
T |
A |
10: 78,791,558 (GRCm39) |
V173E |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,958,411 (GRCm39) |
V806A |
possibly damaging |
Het |
Rad54b |
T |
C |
4: 11,612,440 (GRCm39) |
|
probably null |
Het |
Sdad1 |
A |
T |
5: 92,439,811 (GRCm39) |
C405S |
probably damaging |
Het |
Semp2l2a |
T |
A |
8: 13,887,056 (GRCm39) |
Y345F |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,065,174 (GRCm39) |
I814V |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,744,829 (GRCm39) |
I3108V |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,125,947 (GRCm39) |
I409F |
probably benign |
Het |
Syt13 |
C |
A |
2: 92,783,899 (GRCm39) |
L390M |
probably damaging |
Het |
Taf5 |
T |
A |
19: 47,064,212 (GRCm39) |
V385E |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,006,863 (GRCm39) |
V909E |
probably damaging |
Het |
Tex9 |
G |
A |
9: 72,387,940 (GRCm39) |
|
probably benign |
Het |
Timm10b |
G |
T |
7: 105,327,537 (GRCm39) |
E61* |
probably null |
Het |
Tmprss11g |
A |
T |
5: 86,646,352 (GRCm39) |
F72I |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,219,880 (GRCm39) |
C2206R |
probably benign |
Het |
Uba52rt |
C |
A |
4: 3,973,346 (GRCm39) |
R72L |
probably benign |
Het |
Unc45b |
GC |
G |
11: 82,816,814 (GRCm39) |
|
probably null |
Het |
Unc93b1 |
T |
C |
19: 3,991,910 (GRCm39) |
S215P |
possibly damaging |
Het |
Usp48 |
C |
T |
4: 137,348,470 (GRCm39) |
|
probably benign |
Het |
Vmn1r81 |
A |
G |
7: 11,993,882 (GRCm39) |
V242A |
possibly damaging |
Het |
Zgrf1 |
T |
A |
3: 127,389,673 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Leng8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01599:Leng8
|
APN |
7 |
4,148,481 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02437:Leng8
|
APN |
7 |
4,145,092 (GRCm39) |
missense |
probably damaging |
0.99 |
Coolhand
|
UTSW |
7 |
4,147,932 (GRCm39) |
nonsense |
probably null |
|
R0104:Leng8
|
UTSW |
7 |
4,146,807 (GRCm39) |
missense |
probably damaging |
0.99 |
R0774:Leng8
|
UTSW |
7 |
4,145,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Leng8
|
UTSW |
7 |
4,148,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Leng8
|
UTSW |
7 |
4,148,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R2012:Leng8
|
UTSW |
7 |
4,146,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Leng8
|
UTSW |
7 |
4,147,289 (GRCm39) |
nonsense |
probably null |
|
R3433:Leng8
|
UTSW |
7 |
4,145,131 (GRCm39) |
missense |
probably benign |
0.22 |
R4335:Leng8
|
UTSW |
7 |
4,150,037 (GRCm39) |
missense |
probably damaging |
0.99 |
R4607:Leng8
|
UTSW |
7 |
4,147,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4608:Leng8
|
UTSW |
7 |
4,147,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4886:Leng8
|
UTSW |
7 |
4,147,930 (GRCm39) |
splice site |
probably null |
|
R5307:Leng8
|
UTSW |
7 |
4,148,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R5339:Leng8
|
UTSW |
7 |
4,148,285 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5368:Leng8
|
UTSW |
7 |
4,142,987 (GRCm39) |
missense |
probably damaging |
0.97 |
R5370:Leng8
|
UTSW |
7 |
4,148,433 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5615:Leng8
|
UTSW |
7 |
4,147,957 (GRCm39) |
nonsense |
probably null |
|
R5645:Leng8
|
UTSW |
7 |
4,148,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Leng8
|
UTSW |
7 |
4,145,119 (GRCm39) |
missense |
probably benign |
0.04 |
R6041:Leng8
|
UTSW |
7 |
4,148,568 (GRCm39) |
missense |
probably benign |
0.01 |
R6054:Leng8
|
UTSW |
7 |
4,148,522 (GRCm39) |
splice site |
probably null |
|
R6481:Leng8
|
UTSW |
7 |
4,148,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R6826:Leng8
|
UTSW |
7 |
4,148,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6919:Leng8
|
UTSW |
7 |
4,146,625 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7313:Leng8
|
UTSW |
7 |
4,142,525 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7357:Leng8
|
UTSW |
7 |
4,147,932 (GRCm39) |
nonsense |
probably null |
|
R7428:Leng8
|
UTSW |
7 |
4,146,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Leng8
|
UTSW |
7 |
4,146,504 (GRCm39) |
nonsense |
probably null |
|
R8027:Leng8
|
UTSW |
7 |
4,145,855 (GRCm39) |
frame shift |
probably null |
|
R9048:Leng8
|
UTSW |
7 |
4,146,931 (GRCm39) |
unclassified |
probably benign |
|
R9103:Leng8
|
UTSW |
7 |
4,146,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R9234:Leng8
|
UTSW |
7 |
4,145,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCTTCAGAGTGGCTAAAGAC -3'
(R):5'- GTGCCCGATCTTATGTTATGCC -3'
Sequencing Primer
(F):5'- CCTTCAGAGTGGCTAAAGACATTGAC -3'
(R):5'- GTTATGCCCAACACATTCTGGGG -3'
|
Posted On |
2020-07-13 |