Incidental Mutation 'R1622:Lrrc4b'
ID |
174703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc4b
|
Ensembl Gene |
ENSMUSG00000047085 |
Gene Name |
leucine rich repeat containing 4B |
Synonyms |
NGL-3, Lrig4, Ngl3 |
MMRRC Submission |
039659-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R1622 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44091911-44112775 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
GAGAAG to GAG
at 44111654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035929]
[ENSMUST00000058667]
[ENSMUST00000127790]
[ENSMUST00000135624]
[ENSMUST00000146128]
[ENSMUST00000156957]
[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
|
SMART Domains |
Protein: ENSMUSP00000053123 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 |
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 |
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: ENSMUST00000152902
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldoart2 |
A |
G |
12: 55,612,696 (GRCm39) |
E207G |
probably benign |
Het |
Arhgap19 |
T |
A |
19: 41,790,412 (GRCm39) |
S19C |
probably benign |
Het |
Arhgef18 |
T |
A |
8: 3,491,272 (GRCm39) |
D374E |
possibly damaging |
Het |
Atf2 |
A |
G |
2: 73,684,133 (GRCm39) |
|
probably null |
Het |
Cadm1 |
A |
G |
9: 47,725,139 (GRCm39) |
N300S |
probably benign |
Het |
Ccdc159 |
A |
T |
9: 21,840,666 (GRCm39) |
I78F |
possibly damaging |
Het |
Cdh4 |
T |
C |
2: 179,530,885 (GRCm39) |
I589T |
possibly damaging |
Het |
Clstn1 |
T |
C |
4: 149,713,864 (GRCm39) |
I182T |
probably damaging |
Het |
Cnga3 |
T |
A |
1: 37,283,909 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
A |
4: 84,981,418 (GRCm39) |
S865R |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,683,516 (GRCm39) |
G1552E |
unknown |
Het |
Col6a4 |
A |
C |
9: 105,874,334 (GRCm39) |
S2218A |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,878,910 (GRCm39) |
T527A |
probably benign |
Het |
Fkbp15 |
T |
A |
4: 62,241,439 (GRCm39) |
I569F |
possibly damaging |
Het |
Gabra4 |
A |
G |
5: 71,729,329 (GRCm39) |
S484P |
possibly damaging |
Het |
Glce |
T |
C |
9: 61,977,843 (GRCm39) |
I14V |
possibly damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,265 (GRCm39) |
Q78L |
probably damaging |
Het |
Gpn1 |
A |
G |
5: 31,660,748 (GRCm39) |
T180A |
possibly damaging |
Het |
Gpr6 |
A |
T |
10: 40,947,288 (GRCm39) |
I98N |
probably damaging |
Het |
Hcrtr2 |
T |
C |
9: 76,230,722 (GRCm39) |
N22S |
probably benign |
Het |
Hfm1 |
C |
T |
5: 107,041,389 (GRCm39) |
V665I |
possibly damaging |
Het |
Il4ra |
T |
A |
7: 125,169,225 (GRCm39) |
I159N |
possibly damaging |
Het |
Irf8 |
G |
C |
8: 121,466,561 (GRCm39) |
C2S |
possibly damaging |
Het |
Itih2 |
A |
T |
2: 10,106,890 (GRCm39) |
N701K |
probably benign |
Het |
Mmp10 |
T |
A |
9: 7,504,996 (GRCm39) |
Y263* |
probably null |
Het |
Morc3 |
T |
A |
16: 93,671,694 (GRCm39) |
M835K |
probably benign |
Het |
Msh3 |
A |
G |
13: 92,481,462 (GRCm39) |
|
probably null |
Het |
Ncbp1 |
A |
G |
4: 46,171,963 (GRCm39) |
H777R |
possibly damaging |
Het |
Nfatc1 |
A |
G |
18: 80,710,182 (GRCm39) |
M514T |
probably damaging |
Het |
Nlrp3 |
T |
A |
11: 59,439,302 (GRCm39) |
I293N |
probably damaging |
Het |
Pank2 |
A |
T |
2: 131,115,889 (GRCm39) |
E102D |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,754,505 (GRCm39) |
D175G |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 94,123,311 (GRCm39) |
D953G |
probably benign |
Het |
Pibf1 |
G |
A |
14: 99,423,917 (GRCm39) |
V497I |
probably benign |
Het |
Pkd1 |
G |
A |
17: 24,800,614 (GRCm39) |
M3085I |
probably benign |
Het |
Prss58 |
A |
T |
6: 40,874,248 (GRCm39) |
C143S |
possibly damaging |
Het |
Rassf8 |
A |
G |
6: 145,765,829 (GRCm39) |
|
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Spag7 |
T |
A |
11: 70,555,688 (GRCm39) |
D73V |
probably damaging |
Het |
Sult3a1 |
A |
T |
10: 33,746,246 (GRCm39) |
M189L |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,577,069 (GRCm39) |
D95G |
probably damaging |
Het |
Tbc1d8 |
A |
C |
1: 39,419,317 (GRCm39) |
S766A |
probably benign |
Het |
Tmco5 |
A |
T |
2: 116,710,796 (GRCm39) |
M39L |
probably benign |
Het |
Trcg1 |
A |
G |
9: 57,155,955 (GRCm39) |
N797S |
possibly damaging |
Het |
Trim34a |
A |
T |
7: 103,910,545 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 38,009,357 (GRCm39) |
|
probably benign |
Het |
Urb2 |
A |
G |
8: 124,756,363 (GRCm39) |
N690S |
probably benign |
Het |
Zfp445 |
A |
G |
9: 122,681,614 (GRCm39) |
Y776H |
possibly damaging |
Het |
Zfp52 |
G |
A |
17: 21,781,833 (GRCm39) |
M560I |
probably benign |
Het |
Zfp608 |
A |
G |
18: 55,121,366 (GRCm39) |
S74P |
probably benign |
Het |
Zfp629 |
A |
G |
7: 127,211,012 (GRCm39) |
C266R |
probably damaging |
Het |
Zscan2 |
A |
G |
7: 80,525,134 (GRCm39) |
K285R |
probably benign |
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 |
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'- ACTTCACCAATGTCACCGTGCAG -3'
(R):5'- TAAGCGCATTCTCCGTCACGTC -3'
Sequencing Primer
(F):5'- GCATGGTGACAAACTCGGC -3'
(R):5'- ACGTCCGTGATGGGCAC -3'
|
Posted On |
2014-04-24 |