Incidental Mutation 'IGL01767:Lrrcc1'
ID |
153341 |
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 # |
IGL01767
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 14612332 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 378
(Y378N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000167858]
[ENSMUST00000169079]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091325
AA Change: Y362N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000088875 Gene: ENSMUSG00000027550 AA Change: Y362N
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: Y378N
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104007 Gene: ENSMUSG00000027550 AA Change: Y378N
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
AA Change: Y256N
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000128733 Gene: ENSMUSG00000027550 AA Change: Y256N
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 benign
Transcript: ENSMUST00000169079
AA Change: Y378N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000126560 Gene: ENSMUSG00000027550 AA Change: Y378N
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
A |
T |
8: 60,960,126 (GRCm39) |
D31V |
probably damaging |
Het |
Acaca |
A |
T |
11: 84,211,368 (GRCm39) |
Y1560F |
probably benign |
Het |
Actl7a |
A |
G |
4: 56,743,980 (GRCm39) |
E169G |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,598,895 (GRCm39) |
V270A |
probably benign |
Het |
Adgre4 |
G |
A |
17: 56,104,740 (GRCm39) |
V269I |
probably benign |
Het |
Ankhd1 |
A |
G |
18: 36,781,427 (GRCm39) |
T2160A |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,095,512 (GRCm39) |
V4505A |
probably benign |
Het |
Bnip2 |
T |
A |
9: 69,909,398 (GRCm39) |
|
probably benign |
Het |
Casp16 |
A |
G |
17: 23,771,027 (GRCm39) |
V126A |
probably damaging |
Het |
Ccser1 |
C |
A |
6: 61,695,136 (GRCm39) |
T157K |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,151,503 (GRCm39) |
S2459P |
probably damaging |
Het |
Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
Chmp6 |
G |
A |
11: 119,807,812 (GRCm39) |
E72K |
probably benign |
Het |
Cldn23 |
T |
C |
8: 36,292,816 (GRCm39) |
Y224C |
probably damaging |
Het |
Cry1 |
C |
T |
10: 84,982,338 (GRCm39) |
G336D |
probably damaging |
Het |
Cyp4f17 |
T |
A |
17: 32,725,956 (GRCm39) |
F30I |
probably benign |
Het |
Dgcr8 |
T |
A |
16: 18,096,200 (GRCm39) |
D496V |
probably damaging |
Het |
Dhx9 |
A |
G |
1: 153,344,614 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
C |
T |
5: 124,820,801 (GRCm39) |
|
probably benign |
Het |
Dock9 |
T |
C |
14: 121,860,282 (GRCm39) |
E880G |
possibly damaging |
Het |
Dscam |
A |
G |
16: 96,456,136 (GRCm39) |
V1264A |
probably damaging |
Het |
Eno1 |
T |
C |
4: 150,331,167 (GRCm39) |
Y270H |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,117,112 (GRCm39) |
D385G |
probably damaging |
Het |
Ercc2 |
A |
G |
7: 19,124,346 (GRCm39) |
Y215C |
probably damaging |
Het |
Fscn2 |
A |
G |
11: 120,258,576 (GRCm39) |
N400S |
possibly damaging |
Het |
Fuca1 |
C |
T |
4: 135,666,512 (GRCm39) |
T449I |
probably benign |
Het |
Gm43638 |
T |
C |
5: 87,613,290 (GRCm39) |
K492E |
probably damaging |
Het |
Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
Gm8122 |
T |
C |
14: 43,090,158 (GRCm39) |
T111A |
unknown |
Het |
Gtf3c2 |
T |
A |
5: 31,314,979 (GRCm39) |
N923Y |
probably benign |
Het |
Il17a |
T |
A |
1: 20,803,864 (GRCm39) |
D86E |
probably benign |
Het |
Itgb2l |
G |
T |
16: 96,231,775 (GRCm39) |
N330K |
probably benign |
Het |
Kcnj11 |
T |
C |
7: 45,748,489 (GRCm39) |
H278R |
probably benign |
Het |
Khdrbs2 |
T |
A |
1: 32,658,257 (GRCm39) |
Y272* |
probably null |
Het |
Kndc1 |
A |
T |
7: 139,509,959 (GRCm39) |
Q1267L |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,374,120 (GRCm39) |
F64I |
possibly damaging |
Het |
Lrig2 |
T |
A |
3: 104,398,861 (GRCm39) |
K222N |
probably benign |
Het |
Mblac2 |
T |
C |
13: 81,898,434 (GRCm39) |
L270P |
probably damaging |
Het |
Med13 |
A |
T |
11: 86,210,609 (GRCm39) |
I511N |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,428,033 (GRCm39) |
E763D |
probably damaging |
Het |
Or1e25 |
T |
A |
11: 73,493,858 (GRCm39) |
F151I |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
Or5b97 |
T |
A |
19: 12,879,112 (GRCm39) |
T11S |
probably benign |
Het |
Or7g27 |
G |
A |
9: 19,250,598 (GRCm39) |
V281I |
possibly damaging |
Het |
Plxna4 |
T |
A |
6: 32,214,613 (GRCm39) |
I623F |
possibly damaging |
Het |
Ppp2ca |
T |
A |
11: 52,008,882 (GRCm39) |
Y127* |
probably null |
Het |
Psg18 |
A |
G |
7: 18,087,322 (GRCm39) |
V112A |
possibly damaging |
Het |
Ptprj |
A |
T |
2: 90,299,918 (GRCm39) |
N108K |
probably benign |
Het |
Rictor |
A |
G |
15: 6,806,865 (GRCm39) |
Y707C |
probably damaging |
Het |
Rptn |
T |
C |
3: 93,302,946 (GRCm39) |
F93S |
probably benign |
Het |
Rxrg |
T |
A |
1: 167,454,884 (GRCm39) |
C156S |
probably damaging |
Het |
Slc24a4 |
T |
C |
12: 102,189,946 (GRCm39) |
|
probably benign |
Het |
Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
Slx4 |
T |
C |
16: 3,808,112 (GRCm39) |
K481E |
probably benign |
Het |
Snx19 |
T |
C |
9: 30,374,560 (GRCm39) |
W940R |
possibly damaging |
Het |
Spopfm1 |
T |
A |
3: 94,173,791 (GRCm39) |
D262E |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,626,633 (GRCm39) |
P1106S |
probably benign |
Het |
Tcf20 |
G |
A |
15: 82,740,209 (GRCm39) |
P414L |
probably damaging |
Het |
Treml2 |
T |
C |
17: 48,609,838 (GRCm39) |
V90A |
probably benign |
Het |
Uckl1 |
C |
T |
2: 181,211,327 (GRCm39) |
V501M |
probably damaging |
Het |
Unc79 |
C |
T |
12: 103,108,256 (GRCm39) |
T1937I |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,567,903 (GRCm39) |
I9F |
probably benign |
Het |
Vmn2r44 |
T |
C |
7: 8,383,237 (GRCm39) |
H119R |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,603,643 (GRCm39) |
D607G |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,641,258 (GRCm39) |
G2288D |
probably damaging |
Het |
Znfx1 |
G |
T |
2: 166,897,643 (GRCm39) |
T427N |
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 |
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 |
2014-02-04 |