Incidental Mutation 'R2085:Lingo4'
| ID |
230244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lingo4
|
| Ensembl Gene |
ENSMUSG00000044505 |
| Gene Name |
leucine rich repeat and Ig domain containing 4 |
| Synonyms |
LERN4, Lrrn6d, A530050P17Rik |
| MMRRC Submission |
040090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R2085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94306526-94311820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94309552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 163
(D163E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029795]
[ENSMUST00000050975]
[ENSMUST00000197040]
[ENSMUST00000200009]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029795
|
| SMART Domains |
Protein: ENSMUSP00000029795
Gene: ENSMUSG00000028150
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
28 |
99 |
7.2e-37 |
SMART |
|
low complexity region
|
116 |
133 |
N/A |
INTRINSIC |
|
HOLI
|
320 |
474 |
3.78e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050975
AA Change: D163E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000058050
Gene: ENSMUSG00000044505
AA Change: D163E
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
55 |
89 |
1.23e-4 |
SMART |
|
LRR
|
88 |
107 |
2.76e2 |
SMART |
|
LRR_TYP
|
108 |
131 |
1.02e-6 |
SMART |
|
LRR_TYP
|
132 |
155 |
7.26e-3 |
SMART |
|
LRR
|
156 |
179 |
1.33e1 |
SMART |
|
LRR_TYP
|
180 |
203 |
5.42e-2 |
SMART |
|
LRR
|
204 |
227 |
4.45e1 |
SMART |
|
LRR
|
228 |
251 |
3.27e1 |
SMART |
|
LRR
|
300 |
323 |
4.83e0 |
SMART |
|
LRR
|
324 |
347 |
3.07e-1 |
SMART |
|
LRR
|
348 |
371 |
3.36e1 |
SMART |
|
LRRCT
|
383 |
436 |
5.24e-5 |
SMART |
|
IGc2
|
451 |
516 |
3.53e-13 |
SMART |
|
transmembrane domain
|
560 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197040
|
| SMART Domains |
Protein: ENSMUSP00000143763
Gene: ENSMUSG00000028150
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
7 |
78 |
7.2e-37 |
SMART |
|
low complexity region
|
95 |
112 |
N/A |
INTRINSIC |
|
HOLI
|
299 |
453 |
3.78e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198829
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200009
|
| SMART Domains |
Protein: ENSMUSP00000143610
Gene: ENSMUSG00000028150
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
13 |
84 |
7.2e-37 |
SMART |
|
low complexity region
|
101 |
118 |
N/A |
INTRINSIC |
|
PDB:3L0L|B
|
243 |
309 |
1e-22 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
G |
T |
11: 69,791,198 (GRCm39) |
T127K |
possibly damaging |
Het |
| A2m |
T |
G |
6: 121,653,918 (GRCm39) |
I1417S |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,787,523 (GRCm39) |
I142T |
possibly damaging |
Het |
| Adprm |
T |
A |
11: 66,932,678 (GRCm39) |
D77V |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,062,240 (GRCm39) |
T3574I |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,908 (GRCm39) |
K2489R |
probably damaging |
Het |
| Bub1b |
A |
G |
2: 118,452,676 (GRCm39) |
E443G |
possibly damaging |
Het |
| Cd9 |
A |
T |
6: 125,440,734 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
G |
A |
9: 71,538,160 (GRCm39) |
T1194M |
probably damaging |
Het |
| Clec9a |
T |
C |
6: 129,387,274 (GRCm39) |
V43A |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Dpep3 |
A |
G |
8: 106,701,346 (GRCm39) |
V401A |
probably damaging |
Het |
| Duox2 |
G |
T |
2: 122,111,448 (GRCm39) |
H1417N |
probably damaging |
Het |
| Efhb |
C |
T |
17: 53,733,937 (GRCm39) |
|
probably null |
Het |
| F2r |
T |
C |
13: 95,741,418 (GRCm39) |
N39S |
probably benign |
Het |
| Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
| Galt |
G |
A |
4: 41,758,162 (GRCm39) |
R309Q |
probably damaging |
Het |
| Gas2l2 |
C |
A |
11: 83,318,209 (GRCm39) |
A167S |
probably benign |
Het |
| Hecw1 |
A |
T |
13: 14,438,672 (GRCm39) |
F904I |
possibly damaging |
Het |
| Herc2 |
C |
A |
7: 55,862,713 (GRCm39) |
H4127Q |
possibly damaging |
Het |
| Hipk1 |
T |
C |
3: 103,657,670 (GRCm39) |
T805A |
probably benign |
Het |
| Hivep1 |
A |
G |
13: 42,337,226 (GRCm39) |
E2435G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,015,273 (GRCm39) |
C1813* |
probably null |
Het |
| Hyal4 |
C |
T |
6: 24,755,749 (GRCm39) |
|
probably benign |
Het |
| Inpp4b |
A |
G |
8: 82,678,903 (GRCm39) |
Y311C |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,614,280 (GRCm39) |
Y410C |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 27,080,837 (GRCm39) |
C995* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,606,218 (GRCm39) |
D642G |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,825,918 (GRCm39) |
M358L |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,169,323 (GRCm39) |
F1498Y |
possibly damaging |
Het |
| Me1 |
T |
C |
9: 86,495,607 (GRCm39) |
Q280R |
probably damaging |
Het |
| Megf9 |
T |
C |
4: 70,367,004 (GRCm39) |
H326R |
probably damaging |
Het |
| Nid2 |
G |
A |
14: 19,828,111 (GRCm39) |
G516S |
probably benign |
Het |
| Or13p10 |
T |
C |
4: 118,523,301 (GRCm39) |
S196P |
probably damaging |
Het |
| Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
| Or4k1 |
T |
A |
14: 50,377,580 (GRCm39) |
N172I |
probably damaging |
Het |
| Or5h18 |
C |
T |
16: 58,848,232 (GRCm39) |
V13I |
probably benign |
Het |
| Or8b1c |
A |
G |
9: 38,384,223 (GRCm39) |
Y60C |
probably damaging |
Het |
| Polr2j |
T |
C |
5: 136,145,625 (GRCm39) |
F7L |
probably damaging |
Het |
| Ppp1r16a |
T |
A |
15: 76,577,796 (GRCm39) |
D303E |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,345 (GRCm39) |
E763G |
probably damaging |
Het |
| Rdh11 |
T |
C |
12: 79,229,556 (GRCm39) |
Y239C |
possibly damaging |
Het |
| Sdhaf3 |
A |
G |
6: 6,956,048 (GRCm39) |
R8G |
probably benign |
Het |
| Sgk2 |
T |
C |
2: 162,854,890 (GRCm39) |
S305P |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,788,587 (GRCm39) |
S1189G |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,790,023 (GRCm39) |
L581P |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,110 (GRCm39) |
Q111R |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,784,108 (GRCm39) |
R775C |
probably damaging |
Het |
| Usp17lb |
T |
A |
7: 104,489,622 (GRCm39) |
Q434L |
possibly damaging |
Het |
| Wdr46 |
G |
T |
17: 34,160,425 (GRCm39) |
E135* |
probably null |
Het |
| Zfp318 |
T |
A |
17: 46,720,590 (GRCm39) |
|
probably null |
Het |
| Zfp874a |
T |
A |
13: 67,590,967 (GRCm39) |
H239L |
probably damaging |
Het |
| Zscan29 |
A |
T |
2: 121,000,427 (GRCm39) |
L60* |
probably null |
Het |
|
| Other mutations in Lingo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01074:Lingo4
|
APN |
3 |
94,310,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02662:Lingo4
|
APN |
3 |
94,309,124 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02687:Lingo4
|
APN |
3 |
94,309,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02711:Lingo4
|
APN |
3 |
94,310,700 (GRCm39) |
missense |
probably benign |
|
|
IGL03001:Lingo4
|
APN |
3 |
94,309,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Lingo4
|
APN |
3 |
94,309,250 (GRCm39) |
missense |
probably benign |
|
|
PIT4449001:Lingo4
|
UTSW |
3 |
94,309,239 (GRCm39) |
missense |
probably benign |
|
|
R0088:Lingo4
|
UTSW |
3 |
94,309,340 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0616:Lingo4
|
UTSW |
3 |
94,310,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1455:Lingo4
|
UTSW |
3 |
94,306,699 (GRCm39) |
unclassified |
probably benign |
|
|
R1733:Lingo4
|
UTSW |
3 |
94,310,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2001:Lingo4
|
UTSW |
3 |
94,310,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Lingo4
|
UTSW |
3 |
94,309,685 (GRCm39) |
missense |
probably benign |
|
|
R3805:Lingo4
|
UTSW |
3 |
94,309,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Lingo4
|
UTSW |
3 |
94,309,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Lingo4
|
UTSW |
3 |
94,310,204 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4660:Lingo4
|
UTSW |
3 |
94,310,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4724:Lingo4
|
UTSW |
3 |
94,310,183 (GRCm39) |
nonsense |
probably null |
|
|
R4981:Lingo4
|
UTSW |
3 |
94,306,761 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4994:Lingo4
|
UTSW |
3 |
94,310,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4994:Lingo4
|
UTSW |
3 |
94,309,848 (GRCm39) |
missense |
probably benign |
|
|
R5600:Lingo4
|
UTSW |
3 |
94,309,220 (GRCm39) |
missense |
probably benign |
|
|
R6188:Lingo4
|
UTSW |
3 |
94,310,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Lingo4
|
UTSW |
3 |
94,310,697 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6303:Lingo4
|
UTSW |
3 |
94,310,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Lingo4
|
UTSW |
3 |
94,310,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6789:Lingo4
|
UTSW |
3 |
94,306,662 (GRCm39) |
unclassified |
probably benign |
|
|
R7313:Lingo4
|
UTSW |
3 |
94,310,451 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7329:Lingo4
|
UTSW |
3 |
94,310,162 (GRCm39) |
missense |
probably benign |
|
|
R7631:Lingo4
|
UTSW |
3 |
94,306,767 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7908:Lingo4
|
UTSW |
3 |
94,309,541 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8277:Lingo4
|
UTSW |
3 |
94,309,931 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8848:Lingo4
|
UTSW |
3 |
94,310,840 (GRCm39) |
missense |
probably benign |
|
|
R9257:Lingo4
|
UTSW |
3 |
94,310,676 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9753:Lingo4
|
UTSW |
3 |
94,309,493 (GRCm39) |
nonsense |
probably null |
|
|
X0054:Lingo4
|
UTSW |
3 |
94,310,683 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Z1177:Lingo4
|
UTSW |
3 |
94,310,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGGATTTGAGTGGGAAC -3'
(R):5'- CCTAAGAGCTACTAGTGCTGGG -3'
Sequencing Primer
(F):5'- TTCAGCGTGGCATGCTC -3'
(R):5'- AGCTACTAGTGCTGGGAGCTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation