Incidental Mutation 'IGL02529:Limch1'
| ID |
297246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Limch1
|
| Ensembl Gene |
ENSMUSG00000037736 |
| Gene Name |
LIM and calponin homology domains 1 |
| Synonyms |
3732412D22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 67159956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 617
(N617K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098723
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038188]
[ENSMUST00000101164]
[ENSMUST00000117601]
[ENSMUST00000118242]
[ENSMUST00000127184]
[ENSMUST00000132991]
|
| AlphaFold |
Q3UH68 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038188
AA Change: N461K
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043163
Gene: ENSMUSG00000037736
AA Change: N461K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
140 |
N/A |
INTRINSIC |
|
coiled coil region
|
192 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
430 |
N/A |
INTRINSIC |
|
coiled coil region
|
615 |
672 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
691 |
N/A |
INTRINSIC |
|
LIM
|
830 |
888 |
5.08e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101164
AA Change: N617K
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: N617K
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
23 |
124 |
2.09e-13 |
SMART |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
586 |
N/A |
INTRINSIC |
|
coiled coil region
|
771 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
|
LIM
|
986 |
1044 |
5.08e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117601
AA Change: N458K
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113544
Gene: ENSMUSG00000037736
AA Change: N458K
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
23 |
124 |
1e-15 |
SMART |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
586 |
N/A |
INTRINSIC |
|
coiled coil region
|
704 |
752 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
771 |
N/A |
INTRINSIC |
|
LIM
|
910 |
968 |
2.4e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118242
AA Change: N605K
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: N605K
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
23 |
124 |
2.09e-13 |
SMART |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
574 |
N/A |
INTRINSIC |
|
coiled coil region
|
782 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
858 |
N/A |
INTRINSIC |
|
LIM
|
997 |
1055 |
5.08e-7 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119854
AA Change: N333K
|
| SMART Domains |
Protein: ENSMUSP00000112651
Gene: ENSMUSG00000037736
AA Change: N333K
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
23 |
124 |
2.09e-13 |
SMART |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
Pfam:DUF4757
|
250 |
418 |
5.2e-66 |
PFAM |
|
low complexity region
|
567 |
586 |
N/A |
INTRINSIC |
|
coiled coil region
|
771 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1003 |
N/A |
INTRINSIC |
|
LIM
|
1012 |
1070 |
5.08e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127184
|
| SMART Domains |
Protein: ENSMUSP00000114681
Gene: ENSMUSG00000037736
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
140 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132991
|
| SMART Domains |
Protein: ENSMUSP00000123337
Gene: ENSMUSG00000037736
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
Pfam:DUF4757
|
103 |
269 |
2.6e-63 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137394
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,190 (GRCm39) |
H925L |
probably benign |
Het |
| Agpat5 |
T |
A |
8: 18,931,770 (GRCm39) |
Y297N |
possibly damaging |
Het |
| Apobec3 |
C |
T |
15: 79,781,888 (GRCm39) |
|
probably benign |
Het |
| Atpaf1 |
C |
A |
4: 115,648,466 (GRCm39) |
A161E |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,627,116 (GRCm39) |
D91E |
probably damaging |
Het |
| Capg |
G |
A |
6: 72,532,829 (GRCm39) |
V98I |
probably benign |
Het |
| Ccdc7b |
C |
T |
8: 129,904,706 (GRCm39) |
L115F |
possibly damaging |
Het |
| Ces2a |
T |
A |
8: 105,463,851 (GRCm39) |
|
probably benign |
Het |
| Cldn6 |
T |
G |
17: 23,900,291 (GRCm39) |
V85G |
probably damaging |
Het |
| Clec2e |
T |
C |
6: 129,075,459 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,285,645 (GRCm39) |
E396G |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,078,290 (GRCm39) |
K532* |
probably null |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Gmip |
G |
A |
8: 70,269,439 (GRCm39) |
G537E |
probably damaging |
Het |
| Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
| Hdac3 |
G |
T |
18: 38,077,185 (GRCm39) |
Q230K |
probably benign |
Het |
| Htt |
C |
T |
5: 34,976,387 (GRCm39) |
|
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,526,219 (GRCm39) |
D255G |
possibly damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,831 (GRCm39) |
R70* |
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,792 (GRCm39) |
H353Q |
probably damaging |
Het |
| Kyat3 |
T |
C |
3: 142,426,235 (GRCm39) |
I57T |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,658 (GRCm39) |
K618E |
probably benign |
Het |
| Lsm8 |
T |
C |
6: 18,851,651 (GRCm39) |
F34S |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Mmrn2 |
C |
A |
14: 34,120,570 (GRCm39) |
A480E |
possibly damaging |
Het |
| Mthfd1 |
A |
G |
12: 76,350,483 (GRCm39) |
I474V |
probably benign |
Het |
| Mycl |
A |
G |
4: 122,890,770 (GRCm39) |
K152R |
probably damaging |
Het |
| Numa1 |
A |
G |
7: 101,649,160 (GRCm39) |
|
probably null |
Het |
| Or5p54 |
G |
T |
7: 107,554,423 (GRCm39) |
V192F |
possibly damaging |
Het |
| Otog |
A |
C |
7: 45,909,381 (GRCm39) |
D617A |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,392,596 (GRCm39) |
I267T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,471,226 (GRCm39) |
Y1392H |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,832,097 (GRCm39) |
K639N |
possibly damaging |
Het |
| Rgs19 |
C |
T |
2: 181,330,943 (GRCm39) |
R203H |
probably benign |
Het |
| Scnn1g |
C |
A |
7: 121,341,669 (GRCm39) |
|
probably benign |
Het |
| Tmem181b-ps |
T |
C |
17: 6,734,320 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r118 |
A |
G |
17: 55,917,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Zfp811 |
T |
C |
17: 33,016,789 (GRCm39) |
Y417C |
probably damaging |
Het |
|
| Other mutations in Limch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Limch1
|
APN |
5 |
67,111,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00644:Limch1
|
APN |
5 |
67,173,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00705:Limch1
|
APN |
5 |
67,150,496 (GRCm39) |
nonsense |
probably null |
|
|
IGL01154:Limch1
|
APN |
5 |
66,903,301 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL01865:Limch1
|
APN |
5 |
67,131,923 (GRCm39) |
nonsense |
probably null |
|
|
IGL03171:Limch1
|
APN |
5 |
67,191,537 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03308:Limch1
|
APN |
5 |
67,159,901 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03396:Limch1
|
APN |
5 |
67,111,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Limch1
|
UTSW |
5 |
67,131,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0067:Limch1
|
UTSW |
5 |
67,131,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0114:Limch1
|
UTSW |
5 |
67,193,427 (GRCm39) |
intron |
probably benign |
|
|
R0129:Limch1
|
UTSW |
5 |
67,116,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0193:Limch1
|
UTSW |
5 |
67,184,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Limch1
|
UTSW |
5 |
67,156,616 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0367:Limch1
|
UTSW |
5 |
67,015,297 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0558:Limch1
|
UTSW |
5 |
67,126,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Limch1
|
UTSW |
5 |
67,154,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1190:Limch1
|
UTSW |
5 |
67,126,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1316:Limch1
|
UTSW |
5 |
67,156,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Limch1
|
UTSW |
5 |
67,039,323 (GRCm39) |
splice site |
probably benign |
|
|
R1647:Limch1
|
UTSW |
5 |
67,156,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Limch1
|
UTSW |
5 |
67,156,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Limch1
|
UTSW |
5 |
67,156,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Limch1
|
UTSW |
5 |
67,156,072 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2126:Limch1
|
UTSW |
5 |
67,187,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2248:Limch1
|
UTSW |
5 |
67,201,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2415:Limch1
|
UTSW |
5 |
67,131,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3762:Limch1
|
UTSW |
5 |
67,186,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Limch1
|
UTSW |
5 |
67,126,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Limch1
|
UTSW |
5 |
67,184,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Limch1
|
UTSW |
5 |
67,184,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4876:Limch1
|
UTSW |
5 |
67,039,270 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5062:Limch1
|
UTSW |
5 |
67,126,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5191:Limch1
|
UTSW |
5 |
67,184,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5202:Limch1
|
UTSW |
5 |
67,150,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Limch1
|
UTSW |
5 |
67,039,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5436:Limch1
|
UTSW |
5 |
67,131,909 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5994:Limch1
|
UTSW |
5 |
67,131,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6049:Limch1
|
UTSW |
5 |
67,188,203 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6228:Limch1
|
UTSW |
5 |
67,173,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Limch1
|
UTSW |
5 |
67,186,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6600:Limch1
|
UTSW |
5 |
66,903,281 (GRCm39) |
missense |
probably benign |
|
|
R6888:Limch1
|
UTSW |
5 |
67,179,269 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7111:Limch1
|
UTSW |
5 |
67,182,519 (GRCm39) |
splice site |
probably null |
|
|
R7132:Limch1
|
UTSW |
5 |
67,111,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Limch1
|
UTSW |
5 |
67,175,001 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7302:Limch1
|
UTSW |
5 |
67,116,942 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7341:Limch1
|
UTSW |
5 |
67,191,545 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7491:Limch1
|
UTSW |
5 |
67,211,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8079:Limch1
|
UTSW |
5 |
67,204,096 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8229:Limch1
|
UTSW |
5 |
67,186,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Limch1
|
UTSW |
5 |
67,159,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8395:Limch1
|
UTSW |
5 |
67,126,394 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8416:Limch1
|
UTSW |
5 |
67,156,649 (GRCm39) |
missense |
probably benign |
|
|
R8448:Limch1
|
UTSW |
5 |
67,159,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8477:Limch1
|
UTSW |
5 |
67,131,908 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8924:Limch1
|
UTSW |
5 |
67,190,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9080:Limch1
|
UTSW |
5 |
67,174,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9619:Limch1
|
UTSW |
5 |
67,015,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:Limch1
|
UTSW |
5 |
67,126,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9715:Limch1
|
UTSW |
5 |
67,156,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Limch1
|
UTSW |
5 |
67,179,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0027:Limch1
|
UTSW |
5 |
67,159,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Limch1
|
UTSW |
5 |
67,186,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation