Incidental Mutation 'IGL00978:Lrrcc1'
ID |
27160 |
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 # |
IGL00978
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14601188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 73
(S73R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000169079]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091325
AA Change: S73R
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000088875 Gene: ENSMUSG00000027550 AA Change: S73R
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: S73R
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104007 Gene: ENSMUSG00000027550 AA Change: S73R
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: S73R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000129430 Gene: ENSMUSG00000027550 AA Change: S73R
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 benign
Transcript: ENSMUST00000169079
AA Change: S73R
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000126560 Gene: ENSMUSG00000027550 AA Change: S73R
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
Cep97 |
C |
T |
16: 55,745,323 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
Gmeb2 |
A |
T |
2: 180,900,836 (GRCm39) |
V187E |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
Klhl32 |
T |
A |
4: 24,682,245 (GRCm39) |
D146V |
probably damaging |
Het |
Krt36 |
T |
C |
11: 99,993,774 (GRCm39) |
I355V |
probably damaging |
Het |
Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Os9 |
A |
T |
10: 126,956,378 (GRCm39) |
Y66N |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
Zfp692 |
T |
C |
11: 58,204,855 (GRCm39) |
I405T |
possibly damaging |
Het |
Zfp692 |
A |
G |
11: 58,200,824 (GRCm39) |
H235R |
possibly damaging |
Het |
|
Other mutations in Lrrcc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL03123:Lrrcc1
|
APN |
3 |
14,601,144 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
2013-04-17 |