Incidental Mutation 'R3822:Lrrc4b'
ID |
275224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc4b
|
Ensembl Gene |
ENSMUSG00000047085 |
Gene Name |
leucine rich repeat containing 4B |
Synonyms |
NGL-3, Lrig4, Ngl3 |
MMRRC Submission |
040884-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R3822 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44091911-44112775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44111982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 618
(V618E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035929]
[ENSMUST00000058667]
[ENSMUST00000127790]
[ENSMUST00000135624]
[ENSMUST00000146128]
[ENSMUST00000156957]
[ENSMUST00000156093]
[ENSMUST00000152902]
|
AlphaFold |
P0C192 |
PDB Structure |
CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS AND IMMUNOGLOBULIN DOMAIN OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035929
|
SMART Domains |
Protein: ENSMUSP00000039202 Gene: ENSMUSG00000038704
Domain | Start | End | E-Value | Type |
Pfam:NAD_binding_3
|
17 |
128 |
3.8e-24 |
PFAM |
Pfam:DUF108
|
174 |
265 |
2.9e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058667
AA Change: V618E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000053123 Gene: ENSMUSG00000047085 AA Change: V618E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
LRRNT
|
58 |
92 |
5.6e-8 |
SMART |
LRR
|
91 |
110 |
1.62e2 |
SMART |
LRR
|
111 |
134 |
1.16e-1 |
SMART |
LRR_TYP
|
135 |
158 |
8.22e-2 |
SMART |
LRR_TYP
|
159 |
182 |
5.99e-4 |
SMART |
LRR
|
208 |
229 |
1.62e2 |
SMART |
LRR_TYP
|
230 |
253 |
3.63e-3 |
SMART |
LRR
|
254 |
277 |
9.75e0 |
SMART |
LRR_TYP
|
278 |
301 |
5.29e-5 |
SMART |
LRRCT
|
313 |
364 |
1.92e-3 |
SMART |
IGc2
|
378 |
445 |
1.45e-9 |
SMART |
low complexity region
|
462 |
482 |
N/A |
INTRINSIC |
low complexity region
|
528 |
547 |
N/A |
INTRINSIC |
transmembrane domain
|
573 |
595 |
N/A |
INTRINSIC |
low complexity region
|
596 |
607 |
N/A |
INTRINSIC |
low complexity region
|
624 |
644 |
N/A |
INTRINSIC |
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127790
|
SMART Domains |
Protein: ENSMUSP00000123389 Gene: ENSMUSG00000047085
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
LRRNT
|
58 |
92 |
5.6e-8 |
SMART |
LRR
|
91 |
110 |
1.62e2 |
SMART |
LRR
|
111 |
134 |
1.16e-1 |
SMART |
LRR_TYP
|
135 |
158 |
8.22e-2 |
SMART |
LRR_TYP
|
159 |
182 |
5.99e-4 |
SMART |
Blast:LRR
|
183 |
207 |
2e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133801
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135624
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146128
|
SMART Domains |
Protein: ENSMUSP00000119474 Gene: ENSMUSG00000038704
Domain | Start | End | E-Value | Type |
Pfam:NAD_binding_3
|
5 |
110 |
1e-19 |
PFAM |
Pfam:DUF108
|
153 |
252 |
7.5e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207591
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156957
|
SMART Domains |
Protein: ENSMUSP00000121766 Gene: ENSMUSG00000038704
Domain | Start | End | E-Value | Type |
Pfam:DUF108
|
52 |
151 |
2.6e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156093
|
SMART Domains |
Protein: ENSMUSP00000119374 Gene: ENSMUSG00000047085
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
LRRNT
|
58 |
92 |
5.6e-8 |
SMART |
LRR
|
91 |
110 |
1.62e2 |
SMART |
LRR
|
111 |
134 |
1.16e-1 |
SMART |
LRR_TYP
|
135 |
158 |
8.22e-2 |
SMART |
LRR_TYP
|
159 |
182 |
5.99e-4 |
SMART |
Blast:LRR
|
183 |
207 |
2e-6 |
BLAST |
LRR
|
208 |
230 |
3.65e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152902
|
Meta Mutation Damage Score |
0.7103 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
Chka |
A |
G |
19: 3,932,038 (GRCm39) |
|
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
Cth |
A |
G |
3: 157,624,136 (GRCm39) |
F127S |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
Dysf |
T |
C |
6: 84,184,070 (GRCm39) |
|
probably benign |
Het |
Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
Gpr89 |
A |
G |
3: 96,800,260 (GRCm39) |
S113P |
probably benign |
Het |
Herpud2 |
G |
A |
9: 25,036,220 (GRCm39) |
Q147* |
probably null |
Het |
Hivep1 |
A |
T |
13: 42,337,787 (GRCm39) |
H2622L |
possibly damaging |
Het |
Hlcs |
T |
C |
16: 94,068,840 (GRCm39) |
N274D |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
Man1a2 |
A |
G |
3: 100,539,913 (GRCm39) |
I176T |
possibly damaging |
Het |
Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
Psmb7 |
A |
T |
2: 38,503,440 (GRCm39) |
|
probably benign |
Het |
Rin2 |
C |
T |
2: 145,664,550 (GRCm39) |
T60M |
probably benign |
Het |
Slc28a3 |
A |
G |
13: 58,706,092 (GRCm39) |
V639A |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,867,451 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
T |
A |
1: 88,066,251 (GRCm39) |
V19E |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,125 (GRCm39) |
E112D |
probably damaging |
Het |
Wdr4 |
T |
G |
17: 31,731,195 (GRCm39) |
Q55P |
probably damaging |
Het |
Xpnpep1 |
G |
A |
19: 52,992,250 (GRCm39) |
|
probably benign |
Het |
Zfyve16 |
A |
T |
13: 92,657,769 (GRCm39) |
L714Q |
probably damaging |
Het |
|
Other mutations in Lrrc4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0165:Lrrc4b
|
UTSW |
7 |
44,111,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R1398:Lrrc4b
|
UTSW |
7 |
44,111,876 (GRCm39) |
missense |
probably benign |
0.44 |
R1421:Lrrc4b
|
UTSW |
7 |
44,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
R1622:Lrrc4b
|
UTSW |
7 |
44,111,654 (GRCm39) |
unclassified |
probably benign |
|
R1681:Lrrc4b
|
UTSW |
7 |
44,110,601 (GRCm39) |
missense |
probably damaging |
0.99 |
R1778:Lrrc4b
|
UTSW |
7 |
44,111,823 (GRCm39) |
missense |
probably benign |
|
R1967:Lrrc4b
|
UTSW |
7 |
44,111,654 (GRCm39) |
unclassified |
probably benign |
|
R1989:Lrrc4b
|
UTSW |
7 |
44,111,654 (GRCm39) |
unclassified |
probably benign |
|
R2427:Lrrc4b
|
UTSW |
7 |
44,111,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Lrrc4b
|
UTSW |
7 |
44,111,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Lrrc4b
|
UTSW |
7 |
44,111,796 (GRCm39) |
splice site |
probably null |
|
R5249:Lrrc4b
|
UTSW |
7 |
44,111,988 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5268:Lrrc4b
|
UTSW |
7 |
44,110,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R6029:Lrrc4b
|
UTSW |
7 |
44,111,754 (GRCm39) |
missense |
probably benign |
0.00 |
R6984:Lrrc4b
|
UTSW |
7 |
44,110,722 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7003:Lrrc4b
|
UTSW |
7 |
44,094,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R7392:Lrrc4b
|
UTSW |
7 |
44,111,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R7544:Lrrc4b
|
UTSW |
7 |
44,111,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R7582:Lrrc4b
|
UTSW |
7 |
44,111,234 (GRCm39) |
missense |
probably benign |
0.00 |
R7596:Lrrc4b
|
UTSW |
7 |
44,111,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R7830:Lrrc4b
|
UTSW |
7 |
44,111,231 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7836:Lrrc4b
|
UTSW |
7 |
44,094,316 (GRCm39) |
start gained |
probably benign |
|
R8116:Lrrc4b
|
UTSW |
7 |
44,110,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R8147:Lrrc4b
|
UTSW |
7 |
44,111,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R8376:Lrrc4b
|
UTSW |
7 |
44,112,018 (GRCm39) |
missense |
probably benign |
0.00 |
R9226:Lrrc4b
|
UTSW |
7 |
44,112,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9674:Lrrc4b
|
UTSW |
7 |
44,111,852 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lrrc4b
|
UTSW |
7 |
44,110,736 (GRCm39) |
frame shift |
probably null |
|
Z1176:Lrrc4b
|
UTSW |
7 |
44,094,547 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrrc4b
|
UTSW |
7 |
44,111,335 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrrc4b
|
UTSW |
7 |
44,094,404 (GRCm39) |
missense |
unknown |
|
Z1177:Lrrc4b
|
UTSW |
7 |
44,094,403 (GRCm39) |
missense |
unknown |
|
Z1177:Lrrc4b
|
UTSW |
7 |
44,112,041 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCGCTTAAGGACCTAGACG -3'
(R):5'- CTTGAAGAGCAGAGGTTCGTG -3'
Sequencing Primer
(F):5'- CGCTTAAGGACCTAGACGATGTC -3'
(R):5'- CGTGGATGGAGTTGAGGCC -3'
|
Posted On |
2015-04-02 |