Incidental Mutation 'R1421:Lrrc4b'
| ID |
159813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc4b
|
| Ensembl Gene |
ENSMUSG00000047085 |
| Gene Name |
leucine rich repeat containing 4B |
| Synonyms |
NGL-3, Lrig4, Ngl3 |
| MMRRC Submission |
039477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1421 (G1)
|
| Quality Score |
109 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44091911-44112775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44110475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 116
(I116V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123389
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035929]
[ENSMUST00000058667]
[ENSMUST00000127790]
[ENSMUST00000135624]
[ENSMUST00000146128]
[ENSMUST00000152902]
[ENSMUST00000156093]
|
| AlphaFold |
P0C192 |
| 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 benign
Transcript: ENSMUST00000058667
AA Change: I116V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: I116V
| 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
AA Change: I116V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085
AA Change: I116V
| 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 |
probably benign
Transcript: ENSMUST00000152902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156093
AA Change: I116V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085
AA Change: I116V
| 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 |
|
| Meta Mutation Damage Score |
0.0951 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,923 (GRCm39) |
T1344A |
probably benign |
Het |
| Abcf1 |
G |
A |
17: 36,271,801 (GRCm39) |
A375V |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,249,784 (GRCm39) |
H631Q |
possibly damaging |
Het |
| Adcy10 |
T |
C |
1: 165,391,516 (GRCm39) |
S1258P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,643,389 (GRCm39) |
I717T |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,995 (GRCm39) |
F4760I |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,266 (GRCm39) |
K122R |
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,563,631 (GRCm39) |
C201R |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,714,080 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,110,291 (GRCm39) |
I331K |
probably damaging |
Het |
| Coq8a |
A |
G |
1: 179,998,006 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,942,511 (GRCm39) |
V662A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,803,910 (GRCm39) |
M1667K |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,580,032 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,468,513 (GRCm39) |
Y251F |
probably damaging |
Het |
| Dpy19l4 |
A |
T |
4: 11,304,011 (GRCm39) |
M133K |
probably benign |
Het |
| Emb |
T |
C |
13: 117,408,624 (GRCm39) |
Y322H |
probably benign |
Het |
| Gcm1 |
A |
T |
9: 77,966,982 (GRCm39) |
H67L |
probably damaging |
Het |
| Gls2 |
A |
T |
10: 128,037,217 (GRCm39) |
K253* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,866,944 (GRCm39) |
S196T |
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,365,215 (GRCm39) |
T598A |
probably benign |
Het |
| Gramd1a |
T |
A |
7: 30,842,291 (GRCm39) |
Q90L |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,309,960 (GRCm39) |
Y352C |
probably damaging |
Het |
| Ifi203-ps |
T |
C |
1: 173,625,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ifitm2 |
T |
C |
7: 140,534,972 (GRCm39) |
I121V |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,960 (GRCm39) |
|
probably benign |
Het |
| Kptn |
T |
G |
7: 15,856,949 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,748,092 (GRCm39) |
D345N |
probably benign |
Het |
| Lgals12 |
T |
C |
19: 7,584,079 (GRCm39) |
H6R |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,681 (GRCm39) |
D366G |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,512,748 (GRCm39) |
E104G |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Parp1 |
T |
C |
1: 180,427,653 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
G |
A |
1: 65,310,470 (GRCm39) |
G1919D |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,126,765 (GRCm39) |
|
probably benign |
Het |
| Prrc2b |
C |
T |
2: 32,090,990 (GRCm39) |
S454F |
possibly damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,851,183 (GRCm39) |
S360P |
probably benign |
Het |
| Slc6a12 |
T |
A |
6: 121,336,085 (GRCm39) |
I352N |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,952,759 (GRCm39) |
G197D |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,221 (GRCm39) |
V209A |
probably benign |
Het |
| Taf7l2 |
A |
G |
10: 115,949,343 (GRCm39) |
V61A |
probably damaging |
Het |
| Tex36 |
A |
T |
7: 133,197,078 (GRCm39) |
|
probably null |
Het |
| Tnnt3 |
A |
G |
7: 142,065,103 (GRCm39) |
E108G |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,285,440 (GRCm39) |
F87I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,594,716 (GRCm39) |
I479T |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,349,636 (GRCm39) |
N22D |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp735 |
C |
A |
11: 73,601,523 (GRCm39) |
L156I |
probably benign |
Het |
| Zfp820 |
A |
T |
17: 22,038,861 (GRCm39) |
Y156N |
possibly 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 |
|
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 |
|
R3822: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'- AACCCACGTAGTGAGCCTCCTC -3'
(R):5'- CCGCCTCAGATATGTACTCCAGCC -3'
Sequencing Primer
(F):5'- tgggaatgaaggataatggtagag -3'
(R):5'- AGATATGTACTCCAGCCTCTTCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation