Incidental Mutation 'R2254:Lrrcc1'
ID |
241855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrcc1
|
Ensembl Gene |
ENSMUSG00000027550 |
Gene Name |
leucine rich repeat and coiled-coil domain containing 1 |
Synonyms |
1200008A14Rik, 4932441F23Rik |
MMRRC Submission |
040254-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2254 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 14612315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 356
(R356H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000167858]
[ENSMUST00000169079]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091325
AA Change: R356H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088875 Gene: ENSMUSG00000027550 AA Change: R356H
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 |
probably damaging
Transcript: ENSMUST00000108370
AA Change: R372H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104007 Gene: ENSMUSG00000027550 AA Change: R372H
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 damaging
Transcript: ENSMUST00000163660
AA Change: R250H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128733 Gene: ENSMUSG00000027550 AA Change: R250H
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
|
SMART Domains |
Protein: ENSMUSP00000129430 Gene: ENSMUSG00000027550
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: ENSMUST00000167858
|
SMART Domains |
Protein: ENSMUSP00000129368 Gene: ENSMUSG00000027550
Domain | Start | End | E-Value | Type |
coiled coil region
|
7 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
270 |
313 |
N/A |
INTRINSIC |
low complexity region
|
450 |
472 |
N/A |
INTRINSIC |
SCOP:d1ek8a_
|
494 |
550 |
7e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169079
AA Change: R372H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126560 Gene: ENSMUSG00000027550 AA Change: R372H
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169799
|
SMART Domains |
Protein: ENSMUSP00000126592 Gene: ENSMUSG00000027550
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
131 |
N/A |
INTRINSIC |
coiled coil region
|
200 |
228 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171620
|
SMART Domains |
Protein: ENSMUSP00000128252 Gene: ENSMUSG00000027550
Domain | Start | End | E-Value | Type |
coiled coil region
|
30 |
91 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,311,365 (GRCm39) |
E260G |
probably benign |
Het |
AI429214 |
G |
T |
8: 37,460,920 (GRCm39) |
D23Y |
possibly damaging |
Het |
Alms1 |
A |
G |
6: 85,596,830 (GRCm39) |
Y1021C |
probably damaging |
Het |
Ang5 |
A |
G |
14: 44,200,074 (GRCm39) |
D46G |
probably benign |
Het |
Ano9 |
T |
A |
7: 140,683,003 (GRCm39) |
D635V |
probably benign |
Het |
Apob |
C |
T |
12: 8,061,256 (GRCm39) |
T3246I |
possibly damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,390 (GRCm39) |
E63G |
probably benign |
Het |
B3gnt4 |
A |
C |
5: 123,649,342 (GRCm39) |
I236L |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,292,759 (GRCm39) |
I356N |
possibly damaging |
Het |
Capn3 |
A |
G |
2: 120,331,732 (GRCm39) |
E614G |
probably benign |
Het |
Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
Cdcp3 |
G |
T |
7: 130,824,634 (GRCm39) |
C243F |
probably damaging |
Het |
Cdh2 |
A |
T |
18: 16,776,985 (GRCm39) |
|
probably null |
Het |
Chmp7 |
C |
T |
14: 69,958,405 (GRCm39) |
V255I |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,352,979 (GRCm39) |
S2711T |
probably damaging |
Het |
Gabrg1 |
T |
A |
5: 70,939,707 (GRCm39) |
K137* |
probably null |
Het |
Gdi2 |
T |
A |
13: 3,604,400 (GRCm39) |
|
probably null |
Het |
Glyr1 |
A |
G |
16: 4,836,877 (GRCm39) |
V429A |
probably benign |
Het |
Gm5938 |
T |
A |
X: 77,172,161 (GRCm39) |
|
probably null |
Het |
Golt1b |
T |
C |
6: 142,341,979 (GRCm39) |
L121P |
probably damaging |
Het |
Gpi1 |
T |
C |
7: 33,902,302 (GRCm39) |
N471S |
probably damaging |
Het |
Ifi204 |
G |
A |
1: 173,589,296 (GRCm39) |
T45M |
possibly damaging |
Het |
Il18r1 |
A |
G |
1: 40,530,380 (GRCm39) |
N369S |
possibly damaging |
Het |
Kcnh1 |
G |
T |
1: 192,187,722 (GRCm39) |
|
probably null |
Het |
Kitl |
G |
A |
10: 99,915,993 (GRCm39) |
|
probably null |
Het |
Krt33a |
A |
T |
11: 99,905,004 (GRCm39) |
D167E |
possibly damaging |
Het |
Lax1 |
A |
G |
1: 133,607,971 (GRCm39) |
S257P |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,672,309 (GRCm39) |
I1111T |
probably benign |
Het |
Map1a |
A |
G |
2: 121,134,272 (GRCm39) |
D1458G |
possibly damaging |
Het |
Med11 |
T |
C |
11: 70,342,921 (GRCm39) |
|
probably null |
Het |
Mtmr2 |
T |
C |
9: 13,707,353 (GRCm39) |
Y230H |
possibly damaging |
Het |
Nup93 |
T |
C |
8: 94,954,485 (GRCm39) |
|
probably null |
Het |
Or51ag1 |
A |
G |
7: 103,155,271 (GRCm39) |
V294A |
probably damaging |
Het |
Ovch2 |
A |
G |
7: 107,389,402 (GRCm39) |
V342A |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,894,228 (GRCm39) |
|
probably benign |
Het |
Oxtr |
A |
T |
6: 112,466,067 (GRCm39) |
L231Q |
probably damaging |
Het |
Prap1 |
A |
G |
7: 139,676,075 (GRCm39) |
T30A |
probably damaging |
Het |
Scg2 |
G |
A |
1: 79,414,217 (GRCm39) |
P169S |
probably damaging |
Het |
Scube2 |
A |
G |
7: 109,424,666 (GRCm39) |
V549A |
possibly damaging |
Het |
Slc22a12 |
A |
T |
19: 6,592,571 (GRCm39) |
V57D |
possibly damaging |
Het |
Slc22a28 |
A |
C |
19: 8,041,858 (GRCm39) |
C450G |
probably benign |
Het |
Tas2r120 |
A |
T |
6: 132,634,572 (GRCm39) |
Q218L |
probably benign |
Het |
Tbx15 |
A |
G |
3: 99,259,190 (GRCm39) |
T354A |
possibly damaging |
Het |
Trim24 |
A |
G |
6: 37,935,612 (GRCm39) |
T868A |
probably benign |
Het |
Ttn |
T |
A |
2: 76,598,684 (GRCm39) |
M19410L |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Upb1 |
G |
A |
10: 75,272,051 (GRCm39) |
R288H |
probably damaging |
Het |
Wdr20rt |
T |
A |
12: 65,273,007 (GRCm39) |
W56R |
probably damaging |
Het |
Wdr62 |
T |
G |
7: 29,967,328 (GRCm39) |
I309L |
probably damaging |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp40 |
T |
C |
17: 23,397,344 (GRCm39) |
D51G |
possibly damaging |
Het |
Zfp64 |
G |
A |
2: 168,768,662 (GRCm39) |
H317Y |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGCCATTGGGTAATTAAAGC -3'
(R):5'- ACTTTCTAGGACTTTGTACTGAGTC -3'
Sequencing Primer
(F):5'- ATGTCCAGGTGCCTGCTAATGAC -3'
(R):5'- GCTGTTGTCCGAGAAGTT -3'
|
Posted On |
2014-10-16 |