Incidental Mutation 'R4659:Limch1'
ID |
352667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Limch1
|
Ensembl Gene |
ENSMUSG00000037736 |
Gene Name |
LIM and calponin homology domains 1 |
Synonyms |
3732412D22Rik |
MMRRC Submission |
041919-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R4659 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 67184900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 797
(R797C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038188]
[ENSMUST00000101164]
[ENSMUST00000117601]
[ENSMUST00000118242]
|
AlphaFold |
Q3UH68 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038188
AA Change: R630C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043163 Gene: ENSMUSG00000037736 AA Change: R630C
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 |
probably damaging
Transcript: ENSMUST00000101164
AA Change: R786C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098723 Gene: ENSMUSG00000037736 AA Change: R786C
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 damaging
Transcript: ENSMUST00000117601
AA Change: R627C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113544 Gene: ENSMUSG00000037736 AA Change: R627C
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 damaging
Transcript: ENSMUST00000118242
AA Change: R797C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112732 Gene: ENSMUSG00000037736 AA Change: R797C
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: R502C
|
SMART Domains |
Protein: ENSMUSP00000112651 Gene: ENSMUSG00000037736 AA Change: R502C
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 |
noncoding transcript
Transcript: ENSMUST00000140428
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201322
|
Meta Mutation Damage Score |
0.3981 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
96% (74/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
C |
A |
6: 142,618,321 (GRCm39) |
|
probably null |
Het |
Ankrd22 |
C |
T |
19: 34,102,968 (GRCm39) |
V118I |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Arap2 |
T |
C |
5: 62,811,469 (GRCm39) |
N1114S |
possibly damaging |
Het |
AU021092 |
C |
G |
16: 5,030,011 (GRCm39) |
A335P |
probably damaging |
Het |
Carhsp1 |
T |
C |
16: 8,482,129 (GRCm39) |
T51A |
probably benign |
Het |
Cdc42bpb |
T |
C |
12: 111,306,325 (GRCm39) |
D152G |
probably damaging |
Het |
Cep70 |
T |
A |
9: 99,178,394 (GRCm39) |
D497E |
possibly damaging |
Het |
Chrm5 |
T |
C |
2: 112,310,102 (GRCm39) |
N338S |
probably benign |
Het |
Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,528,229 (GRCm39) |
*586K |
probably null |
Het |
Cplane1 |
G |
T |
15: 8,245,760 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
A |
9: 86,384,085 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,595,201 (GRCm39) |
F1371S |
possibly damaging |
Het |
Eif6 |
A |
G |
2: 155,668,101 (GRCm39) |
I46T |
probably damaging |
Het |
Esco2 |
G |
A |
14: 66,064,035 (GRCm39) |
T383M |
possibly damaging |
Het |
Exoc8 |
T |
C |
8: 125,624,271 (GRCm39) |
D32G |
probably damaging |
Het |
Fam149b |
G |
T |
14: 20,417,941 (GRCm39) |
S216I |
probably benign |
Het |
Fam219a |
T |
C |
4: 41,521,645 (GRCm39) |
D87G |
probably null |
Het |
Fbxw26 |
A |
T |
9: 109,573,939 (GRCm39) |
V71D |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,798,487 (GRCm39) |
K164M |
probably damaging |
Het |
Gm57858 |
T |
C |
3: 36,080,103 (GRCm39) |
D218G |
possibly damaging |
Het |
Gm8603 |
G |
A |
17: 13,737,290 (GRCm39) |
|
noncoding transcript |
Het |
Gnmt |
A |
G |
17: 47,036,892 (GRCm39) |
F239S |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
Kcnj1 |
A |
T |
9: 32,305,444 (GRCm39) |
D2V |
probably benign |
Het |
Lrrc9 |
T |
A |
12: 72,517,038 (GRCm39) |
F597I |
probably damaging |
Het |
Lrriq3 |
T |
A |
3: 154,835,090 (GRCm39) |
I275N |
possibly damaging |
Het |
Mcoln1 |
T |
A |
8: 3,560,840 (GRCm39) |
S387R |
probably damaging |
Het |
Mgst3 |
T |
A |
1: 167,204,848 (GRCm39) |
Q58L |
probably damaging |
Het |
Mical1 |
G |
A |
10: 41,362,932 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
C |
A |
9: 7,453,673 (GRCm39) |
D431E |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,256,439 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,734,673 (GRCm39) |
L607P |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,899,456 (GRCm39) |
N153D |
probably damaging |
Het |
Nfu1 |
A |
T |
6: 86,996,408 (GRCm39) |
T120S |
probably damaging |
Het |
Nhlrc2 |
T |
C |
19: 56,564,699 (GRCm39) |
V341A |
possibly damaging |
Het |
Notch1 |
T |
C |
2: 26,360,901 (GRCm39) |
E1148G |
probably damaging |
Het |
Nqo1 |
C |
T |
8: 108,117,676 (GRCm39) |
|
probably null |
Het |
Nwd1 |
T |
A |
8: 73,421,949 (GRCm39) |
D998E |
probably benign |
Het |
Or8k18 |
G |
A |
2: 86,085,357 (GRCm39) |
Q227* |
probably null |
Het |
Oxct2a |
T |
C |
4: 123,216,473 (GRCm39) |
I303V |
probably benign |
Het |
Parp10 |
A |
T |
15: 76,127,185 (GRCm39) |
D58E |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,292 (GRCm39) |
V495E |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,603,218 (GRCm39) |
S88R |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,044,552 (GRCm39) |
V510A |
probably benign |
Het |
Ranbp17 |
T |
A |
11: 33,216,288 (GRCm39) |
D820V |
probably damaging |
Het |
Sec24c |
G |
T |
14: 20,733,212 (GRCm39) |
G180C |
probably damaging |
Het |
Serpina3n |
T |
C |
12: 104,379,752 (GRCm39) |
S382P |
probably benign |
Het |
Sestd1 |
A |
T |
2: 77,042,843 (GRCm39) |
M237K |
probably null |
Het |
Sf3a2 |
T |
C |
10: 80,639,418 (GRCm39) |
I136T |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,107,580 (GRCm39) |
Y197C |
probably benign |
Het |
Speer4b |
T |
C |
5: 27,702,893 (GRCm39) |
K204E |
probably benign |
Het |
Speer4f1 |
A |
C |
5: 17,681,221 (GRCm39) |
E33A |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,461,147 (GRCm39) |
D3529E |
probably damaging |
Het |
Stard13 |
T |
C |
5: 150,986,253 (GRCm39) |
D419G |
probably benign |
Het |
Tg |
A |
G |
15: 66,545,769 (GRCm39) |
S164G |
possibly damaging |
Het |
Thap12 |
A |
G |
7: 98,359,298 (GRCm39) |
|
probably benign |
Het |
Thsd1 |
C |
A |
8: 22,749,314 (GRCm39) |
Y667* |
probably null |
Het |
Tnks |
A |
C |
8: 35,316,465 (GRCm39) |
Y885D |
possibly damaging |
Het |
Ttll3 |
A |
G |
6: 113,391,102 (GRCm39) |
I896V |
probably benign |
Het |
Txnip |
T |
G |
3: 96,466,743 (GRCm39) |
F190C |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,573,017 (GRCm39) |
D1005G |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,434,352 (GRCm39) |
|
probably null |
Het |
Usp54 |
G |
T |
14: 20,615,060 (GRCm39) |
Q794K |
probably damaging |
Het |
Xrn2 |
A |
G |
2: 146,903,394 (GRCm39) |
Q798R |
probably benign |
Het |
Zfp189 |
A |
G |
4: 49,530,342 (GRCm39) |
I482V |
probably benign |
Het |
Zfp28 |
A |
G |
7: 6,396,506 (GRCm39) |
N314D |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,842,221 (GRCm39) |
|
probably null |
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 |
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 |
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'- GGTGCCATATTGAGGCTGTC -3'
(R):5'- TCGGAGACAAGTTCTTAAAGCAC -3'
Sequencing Primer
(F):5'- GAGGCTGTCTTCTTTCACCCTGG -3'
(R):5'- GCACTAATGGACATGATTCCCTC -3'
|
Posted On |
2015-10-08 |