Incidental Mutation 'R4013:Lrrc63'
| ID |
311834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc63
|
| Ensembl Gene |
ENSMUSG00000021997 |
| Gene Name |
leucine rich repeat containing 63 |
| Synonyms |
4921509B22Rik |
| MMRRC Submission |
040950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R4013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75321743-75368321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75335731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 460
(Y460H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022574]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022574
AA Change: Y460H
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022574
Gene: ENSMUSG00000021997
AA Change: Y460H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
310 |
N/A |
INTRINSIC |
|
LRR
|
412 |
434 |
2.82e0 |
SMART |
|
LRR
|
435 |
458 |
1.45e1 |
SMART |
|
LRR
|
481 |
504 |
1.53e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.1888 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,668,104 (GRCm39) |
Q168R |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,761,727 (GRCm39) |
|
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Atp6v0a2 |
G |
A |
5: 124,789,860 (GRCm39) |
V429M |
probably damaging |
Het |
| Cbln4 |
A |
T |
2: 171,879,477 (GRCm39) |
M137K |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,450,340 (GRCm39) |
V594A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,699,797 (GRCm39) |
E28G |
possibly damaging |
Het |
| Clip4 |
T |
A |
17: 72,163,541 (GRCm39) |
C704* |
probably null |
Het |
| Col8a2 |
T |
A |
4: 126,204,908 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,016,193 (GRCm39) |
T17A |
probably benign |
Het |
| Cyp4f14 |
G |
A |
17: 33,135,853 (GRCm39) |
Q3* |
probably null |
Het |
| Cysltr2 |
A |
G |
14: 73,267,005 (GRCm39) |
I235T |
probably damaging |
Het |
| Esp34 |
C |
A |
17: 38,870,446 (GRCm39) |
C45* |
probably null |
Het |
| Gabrg2 |
T |
C |
11: 41,862,707 (GRCm39) |
K126E |
possibly damaging |
Het |
| Gm4846 |
A |
C |
1: 166,322,249 (GRCm39) |
|
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,764,780 (GRCm39) |
N165S |
possibly damaging |
Het |
| Kcnf1 |
A |
G |
12: 17,225,994 (GRCm39) |
F76L |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,010,177 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,067 (GRCm39) |
Y1325C |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 93,004,014 (GRCm39) |
D156G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Myo15b |
G |
T |
11: 115,762,282 (GRCm39) |
E1201* |
probably null |
Het |
| Ndor1 |
A |
T |
2: 25,140,162 (GRCm39) |
I84K |
probably damaging |
Het |
| Ndst4 |
T |
A |
3: 125,476,819 (GRCm39) |
Y15N |
probably damaging |
Het |
| Or51af1 |
T |
C |
7: 103,141,840 (GRCm39) |
T82A |
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,725 (GRCm39) |
S137P |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,424,347 (GRCm39) |
D317E |
possibly damaging |
Het |
| Ppp2r1a |
G |
A |
17: 21,171,609 (GRCm39) |
R28H |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptpn12 |
G |
A |
5: 21,197,741 (GRCm39) |
P700L |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc39a13 |
T |
C |
2: 90,895,247 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
T |
11: 77,450,659 (GRCm39) |
L371H |
possibly damaging |
Het |
| Tas2r116 |
A |
G |
6: 132,833,230 (GRCm39) |
H277R |
probably damaging |
Het |
| Treml4 |
G |
A |
17: 48,571,837 (GRCm39) |
R80Q |
probably benign |
Het |
| Trim9 |
G |
A |
12: 70,393,126 (GRCm39) |
H273Y |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,904,603 (GRCm39) |
T412I |
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
| Wdr93 |
T |
A |
7: 79,418,159 (GRCm39) |
V294E |
possibly damaging |
Het |
|
| Other mutations in Lrrc63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01688:Lrrc63
|
APN |
14 |
75,322,422 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02222:Lrrc63
|
APN |
14 |
75,323,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02385:Lrrc63
|
APN |
14 |
75,323,640 (GRCm39) |
missense |
probably benign |
|
|
FR4548:Lrrc63
|
UTSW |
14 |
75,362,622 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:Lrrc63
|
UTSW |
14 |
75,362,622 (GRCm39) |
small deletion |
probably benign |
|
|
R0398:Lrrc63
|
UTSW |
14 |
75,363,910 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0637:Lrrc63
|
UTSW |
14 |
75,335,660 (GRCm39) |
splice site |
probably benign |
|
|
R0669:Lrrc63
|
UTSW |
14 |
75,363,550 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1465:Lrrc63
|
UTSW |
14 |
75,344,829 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1465:Lrrc63
|
UTSW |
14 |
75,344,829 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1478:Lrrc63
|
UTSW |
14 |
75,363,424 (GRCm39) |
missense |
probably benign |
|
|
R1591:Lrrc63
|
UTSW |
14 |
75,363,332 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1753:Lrrc63
|
UTSW |
14 |
75,323,784 (GRCm39) |
splice site |
probably null |
|
|
R3713:Lrrc63
|
UTSW |
14 |
75,344,776 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4793:Lrrc63
|
UTSW |
14 |
75,363,601 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4888:Lrrc63
|
UTSW |
14 |
75,363,406 (GRCm39) |
missense |
probably benign |
|
|
R4937:Lrrc63
|
UTSW |
14 |
75,322,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5197:Lrrc63
|
UTSW |
14 |
75,322,322 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5747:Lrrc63
|
UTSW |
14 |
75,363,904 (GRCm39) |
missense |
probably benign |
|
|
R5861:Lrrc63
|
UTSW |
14 |
75,344,806 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5905:Lrrc63
|
UTSW |
14 |
75,323,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6028:Lrrc63
|
UTSW |
14 |
75,323,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6661:Lrrc63
|
UTSW |
14 |
75,362,633 (GRCm39) |
missense |
unknown |
|
|
R6982:Lrrc63
|
UTSW |
14 |
75,322,211 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7062:Lrrc63
|
UTSW |
14 |
75,323,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7439:Lrrc63
|
UTSW |
14 |
75,363,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7440:Lrrc63
|
UTSW |
14 |
75,358,453 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7441:Lrrc63
|
UTSW |
14 |
75,363,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7474:Lrrc63
|
UTSW |
14 |
75,363,643 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7604:Lrrc63
|
UTSW |
14 |
75,322,409 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7703:Lrrc63
|
UTSW |
14 |
75,360,447 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7819:Lrrc63
|
UTSW |
14 |
75,362,661 (GRCm39) |
small insertion |
probably benign |
|
|
R8519:Lrrc63
|
UTSW |
14 |
75,363,312 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8970:Lrrc63
|
UTSW |
14 |
75,362,631 (GRCm39) |
missense |
unknown |
|
|
R9025:Lrrc63
|
UTSW |
14 |
75,322,284 (GRCm39) |
missense |
probably benign |
|
|
R9547:Lrrc63
|
UTSW |
14 |
75,344,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9589:Lrrc63
|
UTSW |
14 |
75,322,379 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9780:Lrrc63
|
UTSW |
14 |
75,360,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Lrrc63
|
UTSW |
14 |
75,363,430 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGGTGAATTCAAGGCTTTTG -3'
(R):5'- AGCAGCACCGTTTTCAGAAG -3'
Sequencing Primer
(F):5'- AAAAGAACTTGACTCTGTGTGTGTG -3'
(R):5'- CAGCACCGTTTTCAGAAGTGTTTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation