Incidental Mutation 'IGL01154:Limch1'
ID |
51217 |
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: 0.152)
|
Stock # |
IGL01154
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 66903301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 17
(E17*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101164]
[ENSMUST00000118242]
[ENSMUST00000130228]
|
AlphaFold |
Q3UH68 |
Predicted Effect |
probably null
Transcript: ENSMUST00000101164
AA Change: E17*
|
SMART Domains |
Protein: ENSMUSP00000098723 Gene: ENSMUSG00000037736 AA Change: E17*
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: ENSMUST00000118242
AA Change: E17*
|
SMART Domains |
Protein: ENSMUSP00000112732 Gene: ENSMUSG00000037736 AA Change: E17*
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
AA Change: E17*
|
SMART Domains |
Protein: ENSMUSP00000112651 Gene: ENSMUSG00000037736 AA Change: E17*
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 null
Transcript: ENSMUST00000130228
AA Change: E17*
|
SMART Domains |
Protein: ENSMUSP00000116126 Gene: ENSMUSG00000037736 AA Change: E17*
Domain | Start | End | E-Value | Type |
Pfam:CH
|
25 |
77 |
2.2e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201852
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202830
|
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 |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly 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 |
|
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 |
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 |
2013-06-21 |