Incidental Mutation 'IGL01325:Lrrcc1'
| ID |
74240 |
| 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 # |
IGL01325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 14601601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000091325
|
| SMART Domains |
Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
| 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 null
Transcript: ENSMUST00000108370
|
| SMART Domains |
Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
| 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 null
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
|
| 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 null
Transcript: ENSMUST00000169079
|
| SMART Domains |
Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,347 (GRCm39) |
T127A |
probably damaging |
Het |
| Acrv1 |
T |
A |
9: 36,609,810 (GRCm39) |
M227K |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,177,333 (GRCm39) |
N592S |
probably benign |
Het |
| Adamts15 |
T |
A |
9: 30,832,984 (GRCm39) |
I184F |
possibly damaging |
Het |
| Adcy1 |
T |
C |
11: 7,014,102 (GRCm39) |
V168A |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,501 (GRCm39) |
F179L |
probably benign |
Het |
| Asxl2 |
G |
T |
12: 3,477,172 (GRCm39) |
R6L |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,982,049 (GRCm39) |
|
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,412,949 (GRCm39) |
F445L |
probably benign |
Het |
| Cpne3 |
T |
C |
4: 19,535,229 (GRCm39) |
S268G |
probably benign |
Het |
| Crtc3 |
C |
T |
7: 80,327,116 (GRCm39) |
R70Q |
probably damaging |
Het |
| Fam169a |
C |
A |
13: 97,259,207 (GRCm39) |
A421E |
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,058,281 (GRCm39) |
M825K |
probably benign |
Het |
| Gjb2 |
T |
C |
14: 57,337,678 (GRCm39) |
T177A |
probably benign |
Het |
| Gm6576 |
A |
G |
15: 27,025,970 (GRCm39) |
|
noncoding transcript |
Het |
| Herpud2 |
A |
G |
9: 25,025,207 (GRCm39) |
V175A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,267,078 (GRCm39) |
D1052G |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,358,169 (GRCm39) |
F578L |
probably benign |
Het |
| Kdm7a |
T |
G |
6: 39,135,243 (GRCm39) |
|
probably benign |
Het |
| Krt76 |
A |
T |
15: 101,793,323 (GRCm39) |
S572T |
unknown |
Het |
| Marchf9 |
A |
C |
10: 126,893,459 (GRCm39) |
V183G |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,219,088 (GRCm39) |
V578A |
probably damaging |
Het |
| Ndufaf6 |
A |
T |
4: 11,070,251 (GRCm39) |
D123E |
probably benign |
Het |
| Nhlh2 |
T |
G |
3: 101,920,342 (GRCm39) |
Y125D |
probably damaging |
Het |
| Nol4l |
A |
G |
2: 153,278,271 (GRCm39) |
|
probably benign |
Het |
| Npas1 |
C |
T |
7: 16,197,247 (GRCm39) |
G206D |
probably benign |
Het |
| Or52h9 |
T |
C |
7: 104,202,896 (GRCm39) |
F257L |
probably damaging |
Het |
| Or5ak24 |
C |
A |
2: 85,260,639 (GRCm39) |
C178F |
possibly damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,676 (GRCm39) |
V662E |
probably damaging |
Het |
| Plxna3 |
G |
A |
X: 73,379,400 (GRCm39) |
G758S |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,607,717 (GRCm39) |
N709Y |
probably damaging |
Het |
| Pygo2 |
C |
T |
3: 89,339,753 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,120 (GRCm39) |
S947T |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,129,010 (GRCm39) |
H203L |
probably damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,587,841 (GRCm39) |
G270R |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,098,662 (GRCm39) |
|
probably null |
Het |
| Rpl23a-ps1 |
T |
C |
1: 46,020,793 (GRCm39) |
|
noncoding transcript |
Het |
| Serpinb7 |
T |
G |
1: 107,363,110 (GRCm39) |
H91Q |
probably damaging |
Het |
| Shd |
C |
T |
17: 56,279,839 (GRCm39) |
P111S |
possibly damaging |
Het |
| Slc35e1 |
G |
T |
8: 73,237,602 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
C |
T |
6: 112,752,647 (GRCm39) |
R279H |
probably damaging |
Het |
| Sstr4 |
G |
A |
2: 148,237,472 (GRCm39) |
E28K |
probably benign |
Het |
| Stip1 |
T |
C |
19: 6,998,464 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,973,288 (GRCm39) |
E1097G |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,431,819 (GRCm39) |
V489E |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,849,033 (GRCm39) |
S516R |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,726,147 (GRCm39) |
R343S |
possibly damaging |
Het |
| Trps1 |
A |
G |
15: 50,710,210 (GRCm39) |
S47P |
probably benign |
Het |
| Ubr3 |
A |
C |
2: 69,747,441 (GRCm39) |
K235Q |
possibly damaging |
Het |
| Uckl1 |
G |
A |
2: 181,216,754 (GRCm39) |
Q48* |
probably null |
Het |
| Vat1 |
T |
C |
11: 101,356,541 (GRCm39) |
D140G |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,081 (GRCm39) |
T636A |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,239 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
C |
A |
7: 6,293,545 (GRCm39) |
T15N |
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 |
|
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 |
2013-10-07 |
Incidental Mutation