Incidental Mutation 'IGL03123:Lrrcc1'
| ID |
410064 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrcc1
|
| Ensembl Gene |
ENSMUSG00000027550 |
| Gene Name |
leucine rich repeat and coiled-coil domain containing 1 |
| Synonyms |
1200008A14Rik, 4932441F23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14601144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 59
(I59F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000169079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091325
AA Change: I59F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
60 |
116 |
1.1e-9 |
PFAM |
|
Pfam:LRR_4
|
82 |
126 |
4.8e-8 |
PFAM |
|
Blast:LRR
|
130 |
151 |
1e-5 |
BLAST |
|
coiled coil region
|
412 |
626 |
N/A |
INTRINSIC |
|
coiled coil region
|
675 |
718 |
N/A |
INTRINSIC |
|
coiled coil region
|
757 |
1010 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108370
AA Change: I59F
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
60 |
116 |
1.1e-9 |
PFAM |
|
Pfam:LRR_4
|
82 |
124 |
4.5e-8 |
PFAM |
|
Blast:LRR
|
130 |
151 |
1e-5 |
BLAST |
|
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
642 |
N/A |
INTRINSIC |
|
coiled coil region
|
691 |
734 |
N/A |
INTRINSIC |
|
coiled coil region
|
773 |
953 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163660
|
| SMART Domains |
Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRR
|
8 |
29 |
7e-6 |
BLAST |
|
SCOP:d1dcea3
|
9 |
71 |
9e-4 |
SMART |
|
low complexity region
|
167 |
179 |
N/A |
INTRINSIC |
|
coiled coil region
|
306 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
569 |
612 |
N/A |
INTRINSIC |
|
coiled coil region
|
651 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165436
AA Change: I59F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129430
Gene: ENSMUSG00000027550
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
32 |
154 |
4e-10 |
PFAM |
|
Pfam:LRR_6
|
60 |
83 |
1.4e-4 |
PFAM |
|
Pfam:LRR_4
|
60 |
103 |
6.2e-11 |
PFAM |
|
Pfam:LRR_8
|
60 |
116 |
8.1e-11 |
PFAM |
|
Pfam:LRR_1
|
61 |
81 |
3.3e-4 |
PFAM |
|
Pfam:LRR_6
|
78 |
105 |
3.4e-3 |
PFAM |
|
Pfam:LRR_4
|
82 |
125 |
4.9e-9 |
PFAM |
|
Pfam:LRR_6
|
103 |
125 |
5.1e-4 |
PFAM |
|
Pfam:LRR_4
|
104 |
149 |
1.2e-8 |
PFAM |
|
Pfam:LRR_1
|
105 |
128 |
3.8e-3 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169079
AA Change: I59F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: I59F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
60 |
102 |
4.3e-9 |
PFAM |
|
internal_repeat_1
|
109 |
145 |
1.05e-6 |
PROSPERO |
|
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
642 |
N/A |
INTRINSIC |
|
coiled coil region
|
691 |
734 |
N/A |
INTRINSIC |
|
coiled coil region
|
773 |
1026 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
| Caprin2 |
G |
T |
6: 148,796,505 (GRCm39) |
A36E |
probably damaging |
Het |
| Castor1 |
A |
T |
11: 4,170,278 (GRCm39) |
T119S |
probably damaging |
Het |
| Dnase1l2 |
T |
C |
17: 24,661,226 (GRCm39) |
M28V |
possibly damaging |
Het |
| Eci1 |
T |
A |
17: 24,655,300 (GRCm39) |
|
probably null |
Het |
| Edil3 |
T |
A |
13: 89,279,855 (GRCm39) |
S178T |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,547 (GRCm39) |
E12G |
probably damaging |
Het |
| Frmd7 |
G |
A |
X: 49,984,835 (GRCm39) |
T445I |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,365,953 (GRCm39) |
E344G |
probably damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,812 (GRCm39) |
Y57H |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,909,171 (GRCm39) |
I81V |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Htra3 |
C |
T |
5: 35,823,477 (GRCm39) |
V280I |
probably damaging |
Het |
| Impg2 |
G |
T |
16: 56,087,485 (GRCm39) |
E992D |
probably damaging |
Het |
| Kctd4 |
T |
C |
14: 76,200,418 (GRCm39) |
W130R |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,942,544 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,759,652 (GRCm39) |
T1202M |
unknown |
Het |
| Lrp11 |
A |
T |
10: 7,478,689 (GRCm39) |
D326V |
probably damaging |
Het |
| Lyg2 |
G |
A |
1: 37,954,845 (GRCm39) |
|
probably benign |
Het |
| Med16 |
A |
G |
10: 79,732,667 (GRCm39) |
V699A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 113,022,804 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,531,767 (GRCm39) |
T744A |
probably damaging |
Het |
| Or1e1f |
T |
A |
11: 73,855,812 (GRCm39) |
I126N |
probably damaging |
Het |
| Oser1 |
A |
T |
2: 163,253,309 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,952,966 (GRCm39) |
V80A |
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,100,539 (GRCm39) |
G1857D |
possibly damaging |
Het |
| Pitpnc1 |
C |
T |
11: 107,228,237 (GRCm39) |
|
probably null |
Het |
| Pofut2 |
A |
G |
10: 77,102,844 (GRCm39) |
E137G |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,701,687 (GRCm39) |
W291R |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,465,050 (GRCm39) |
I314T |
probably benign |
Het |
| Rps2 |
C |
T |
17: 24,939,263 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,224 (GRCm39) |
K1148E |
probably damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,012,741 (GRCm39) |
D248G |
probably benign |
Het |
| Slit2 |
G |
T |
5: 48,368,681 (GRCm39) |
R352L |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,756,404 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,272 (GRCm39) |
C1217* |
probably null |
Het |
| Tbcb |
A |
G |
7: 29,926,261 (GRCm39) |
|
probably benign |
Het |
| Tinf2 |
T |
C |
14: 55,918,346 (GRCm39) |
D128G |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,515,218 (GRCm39) |
D332G |
possibly damaging |
Het |
| Tram1 |
A |
G |
1: 13,659,829 (GRCm39) |
F40L |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,196,475 (GRCm39) |
I1500L |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,884,827 (GRCm39) |
P25L |
probably benign |
Het |
| Wnt5a |
G |
T |
14: 28,244,882 (GRCm39) |
Q376H |
probably damaging |
Het |
| Zfp526 |
A |
C |
7: 24,924,049 (GRCm39) |
T103P |
probably benign |
Het |
|
| Other mutations in Lrrcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Lrrcc1
|
APN |
3 |
14,601,188 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01325:Lrrcc1
|
APN |
3 |
14,601,601 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01681:Lrrcc1
|
APN |
3 |
14,613,286 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01767:Lrrcc1
|
APN |
3 |
14,612,332 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01868:Lrrcc1
|
APN |
3 |
14,619,417 (GRCm39) |
nonsense |
probably null |
|
|
PIT1430001:Lrrcc1
|
UTSW |
3 |
14,610,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0295:Lrrcc1
|
UTSW |
3 |
14,630,909 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0427:Lrrcc1
|
UTSW |
3 |
14,623,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Lrrcc1
|
UTSW |
3 |
14,624,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Lrrcc1
|
UTSW |
3 |
14,622,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Lrrcc1
|
UTSW |
3 |
14,605,179 (GRCm39) |
splice site |
probably benign |
|
|
R0635:Lrrcc1
|
UTSW |
3 |
14,624,288 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1355:Lrrcc1
|
UTSW |
3 |
14,613,174 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1370:Lrrcc1
|
UTSW |
3 |
14,613,174 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1727:Lrrcc1
|
UTSW |
3 |
14,602,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1822:Lrrcc1
|
UTSW |
3 |
14,624,285 (GRCm39) |
unclassified |
probably benign |
|
|
R1946:Lrrcc1
|
UTSW |
3 |
14,615,453 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2254:Lrrcc1
|
UTSW |
3 |
14,612,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Lrrcc1
|
UTSW |
3 |
14,628,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2392:Lrrcc1
|
UTSW |
3 |
14,601,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Lrrcc1
|
UTSW |
3 |
14,615,388 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4464:Lrrcc1
|
UTSW |
3 |
14,622,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Lrrcc1
|
UTSW |
3 |
14,616,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4543:Lrrcc1
|
UTSW |
3 |
14,604,851 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4718:Lrrcc1
|
UTSW |
3 |
14,601,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Lrrcc1
|
UTSW |
3 |
14,627,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Lrrcc1
|
UTSW |
3 |
14,601,156 (GRCm39) |
nonsense |
probably null |
|
|
R4841:Lrrcc1
|
UTSW |
3 |
14,627,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4842:Lrrcc1
|
UTSW |
3 |
14,627,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5900:Lrrcc1
|
UTSW |
3 |
14,627,186 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6338:Lrrcc1
|
UTSW |
3 |
14,612,376 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7001:Lrrcc1
|
UTSW |
3 |
14,605,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7036:Lrrcc1
|
UTSW |
3 |
14,628,069 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7342:Lrrcc1
|
UTSW |
3 |
14,619,431 (GRCm39) |
missense |
probably benign |
|
|
R8038:Lrrcc1
|
UTSW |
3 |
14,630,890 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8497:Lrrcc1
|
UTSW |
3 |
14,605,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8509:Lrrcc1
|
UTSW |
3 |
14,601,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Lrrcc1
|
UTSW |
3 |
14,601,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Lrrcc1
|
UTSW |
3 |
14,602,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:Lrrcc1
|
UTSW |
3 |
14,615,489 (GRCm39) |
nonsense |
probably null |
|
|
R9251:Lrrcc1
|
UTSW |
3 |
14,623,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Lrrcc1
|
UTSW |
3 |
14,613,301 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9572:Lrrcc1
|
UTSW |
3 |
14,601,148 (GRCm39) |
nonsense |
probably null |
|
|
R9788:Lrrcc1
|
UTSW |
3 |
14,602,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation