Incidental Mutation 'R4335:Leng8'
| ID |
323736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Leng8
|
| Ensembl Gene |
ENSMUSG00000035545 |
| Gene Name |
leukocyte receptor cluster (LRC) member 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R4335 (G1)
|
| Quality Score |
184 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4140038-4151176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4150037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 781
(Y781H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037472]
[ENSMUST00000058358]
[ENSMUST00000076831]
[ENSMUST00000121270]
[ENSMUST00000128756]
[ENSMUST00000140410]
[ENSMUST00000143825]
[ENSMUST00000144248]
|
| AlphaFold |
Q8CBY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037472
|
| SMART Domains |
Protein: ENSMUSP00000046465
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 |
|
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: ENSMUST00000076831
|
| SMART Domains |
Protein: ENSMUSP00000092508
Gene: ENSMUSG00000063838
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
23 |
57 |
5.86e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121270
AA Change: Y781H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545
AA Change: Y781H
| 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 |
noncoding transcript
Transcript: ENSMUST00000127723
|
| 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: ENSMUST00000140410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143825
|
| SMART Domains |
Protein: ENSMUSP00000117257
Gene: ENSMUSG00000063838
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
23 |
57 |
5.86e-6 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (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 |
|
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 |
|
|
R8198:Leng8
|
UTSW |
7 |
4,147,170 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- TTGCTGAGGAAAATACAAGCCC -3'
(R):5'- AAATCTCTGTACAGGTCCCCGG -3'
Sequencing Primer
(F):5'- CCAGATGGGGAGCATTGC -3'
(R):5'- AGGGATGCTGGCTCTTCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation