Incidental Mutation 'R0367:Limch1'
| ID |
30267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limch1
|
| Ensembl Gene |
ENSMUSG00000037736 |
| Gene Name |
LIM and calponin homology domains 1 |
| Synonyms |
3732412D22Rik |
| MMRRC Submission |
038573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R0367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 67015297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101164]
[ENSMUST00000101164]
[ENSMUST00000117601]
[ENSMUST00000118242]
[ENSMUST00000118242]
[ENSMUST00000130228]
|
| AlphaFold |
Q3UH68 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000101164
|
| SMART Domains |
Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
| 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 |
probably null
Transcript: ENSMUST00000101164
|
| SMART Domains |
Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
| 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 |
probably null
Transcript: ENSMUST00000117601
|
| SMART Domains |
Protein: ENSMUSP00000113544
Gene: ENSMUSG00000037736
| 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 |
probably null
Transcript: ENSMUST00000118242
|
| SMART Domains |
Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
| 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 |
probably null
Transcript: ENSMUST00000118242
|
| SMART Domains |
Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
| 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 |
probably null
Transcript: ENSMUST00000119854
|
| SMART Domains |
Protein: ENSMUSP00000112651
Gene: ENSMUSG00000037736
| 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: ENSMUST00000130228
|
| SMART Domains |
Protein: ENSMUSP00000116126
Gene: ENSMUSG00000037736
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CH
|
25 |
77 |
2.2e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201852
|
| Meta Mutation Damage Score |
0.9484 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,049,961 (GRCm39) |
S12P |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,498,953 (GRCm39) |
D228E |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,177,455 (GRCm39) |
E71G |
probably benign |
Het |
| Arhgap19 |
C |
A |
19: 41,790,417 (GRCm39) |
G17V |
probably benign |
Het |
| C8a |
A |
C |
4: 104,719,791 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
T |
A |
4: 11,201,426 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,425 (GRCm39) |
C317Y |
probably damaging |
Het |
| Cend1 |
C |
A |
7: 141,007,808 (GRCm39) |
R4L |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,253,839 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
T |
C |
7: 44,608,999 (GRCm39) |
N774S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 15,967,270 (GRCm39) |
D3198N |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,176,168 (GRCm39) |
S323F |
probably damaging |
Het |
| Ddx60 |
T |
G |
8: 62,470,783 (GRCm39) |
I1425R |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,823,713 (GRCm39) |
Y370N |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,967 (GRCm39) |
V103A |
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,477,350 (GRCm39) |
D2132G |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,182,919 (GRCm39) |
|
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,053,791 (GRCm39) |
D57N |
probably damaging |
Het |
| Gpr161 |
T |
C |
1: 165,144,805 (GRCm39) |
|
probably benign |
Het |
| Gstcd |
G |
A |
3: 132,692,138 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,261,594 (GRCm39) |
C980* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,879,649 (GRCm39) |
I93L |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,135,506 (GRCm39) |
K1775N |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,797,640 (GRCm39) |
V864I |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,963 (GRCm39) |
Y38F |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,513,453 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
A |
T |
17: 71,522,017 (GRCm39) |
E17V |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,684,142 (GRCm39) |
F342I |
probably benign |
Het |
| Lyzl6 |
A |
G |
11: 103,527,578 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
C |
17: 12,476,928 (GRCm39) |
|
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,897,904 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or4c52 |
A |
C |
2: 89,846,116 (GRCm39) |
I281L |
probably damaging |
Het |
| Or7e168 |
G |
T |
9: 19,719,839 (GRCm39) |
S75I |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,057,471 (GRCm39) |
F735L |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,655,538 (GRCm39) |
E477G |
possibly damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Rims2 |
G |
T |
15: 39,326,011 (GRCm39) |
|
probably null |
Het |
| Samd4b |
C |
T |
7: 28,122,873 (GRCm39) |
A62T |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,347,088 (GRCm39) |
N192S |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,345,802 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
T |
G |
7: 127,387,358 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,257,192 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,823 (GRCm39) |
S415P |
probably benign |
Het |
| Sp140l2 |
G |
T |
1: 85,247,824 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,937,650 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Styxl2 |
T |
A |
1: 165,928,332 (GRCm39) |
T427S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
| Syt13 |
C |
A |
2: 92,745,596 (GRCm39) |
A22E |
probably benign |
Het |
| Tm9sf2 |
T |
C |
14: 122,392,780 (GRCm39) |
F432S |
probably benign |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,357 (GRCm39) |
W792R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,808,227 (GRCm39) |
S1606G |
probably benign |
Het |
| Zfp518a |
A |
T |
19: 40,900,665 (GRCm39) |
H198L |
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 |
|
|
IGL02529:Limch1
|
APN |
5 |
67,159,956 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGCTGACACTTCATGGCCTAAG -3'
(R):5'- ACTGGGACACAAGTTCCCAAGTGG -3'
Sequencing Primer
(F):5'- TTATTTCACCTGATCCACGCAAAG -3'
(R):5'- taggaggcagtggcagg -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation