Incidental Mutation 'R7111:Limch1'
| ID |
568586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limch1
|
| Ensembl Gene |
ENSMUSG00000037736 |
| Gene Name |
LIM and calponin homology domains 1 |
| Synonyms |
3732412D22Rik |
| MMRRC Submission |
045203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R7111 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 67182519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038188]
[ENSMUST00000101164]
[ENSMUST00000117601]
[ENSMUST00000118242]
|
| AlphaFold |
Q3UH68 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038188
|
| SMART Domains |
Protein: ENSMUSP00000043163
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
|
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 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
G |
19: 57,062,309 (GRCm39) |
N384T |
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,706,396 (GRCm39) |
Y843C |
probably damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,182,021 (GRCm39) |
V118E |
probably benign |
Het |
| Arhgef26 |
T |
A |
3: 62,252,689 (GRCm39) |
S414T |
possibly damaging |
Het |
| Armc9 |
T |
C |
1: 86,087,717 (GRCm39) |
Y18H |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,816 (GRCm39) |
E96D |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,611,998 (GRCm39) |
I898V |
probably benign |
Het |
| Cd79b |
T |
C |
11: 106,205,365 (GRCm39) |
I42M |
possibly damaging |
Het |
| Cdca7 |
G |
A |
2: 72,315,575 (GRCm39) |
R346H |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 110,065,638 (GRCm39) |
S176P |
|
Het |
| Cdh23 |
T |
A |
10: 60,222,823 (GRCm39) |
D1200V |
probably damaging |
Het |
| Cdkn1c |
T |
C |
7: 143,014,326 (GRCm39) |
D40G |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,437,917 (GRCm39) |
R1666H |
probably damaging |
Het |
| Cxcl1 |
A |
G |
5: 91,039,182 (GRCm39) |
T5A |
unknown |
Het |
| Dnah2 |
A |
C |
11: 69,337,579 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,803,028 (GRCm39) |
I54M |
probably damaging |
Het |
| Ephb3 |
A |
T |
16: 21,037,577 (GRCm39) |
K500* |
probably null |
Het |
| Fam13c |
T |
A |
10: 70,390,336 (GRCm39) |
H533Q |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,064,682 (GRCm39) |
D4879E |
probably damaging |
Het |
| Grk6 |
G |
T |
13: 55,606,733 (GRCm39) |
W511L |
probably damaging |
Het |
| Hivep3 |
G |
C |
4: 119,952,431 (GRCm39) |
S249T |
possibly damaging |
Het |
| Iqch |
T |
A |
9: 63,419,599 (GRCm39) |
Y496F |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 115,037,066 (GRCm39) |
I21V |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,226,554 (GRCm39) |
C1397S |
probably damaging |
Het |
| Krt86 |
A |
T |
15: 101,374,498 (GRCm39) |
Y297F |
possibly damaging |
Het |
| Mfsd6 |
G |
T |
1: 52,748,917 (GRCm39) |
|
probably null |
Het |
| Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
| Nme8 |
G |
A |
13: 19,859,817 (GRCm39) |
R268W |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or10p1 |
T |
A |
10: 129,443,829 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or5d36 |
G |
A |
2: 87,901,000 (GRCm39) |
T242I |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,096 (GRCm39) |
I305F |
probably benign |
Het |
| Pdlim3 |
A |
G |
8: 46,370,539 (GRCm39) |
K232E |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,219,359 (GRCm39) |
E278G |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,057,906 (GRCm39) |
D47G |
probably benign |
Het |
| Sema4c |
G |
A |
1: 36,592,160 (GRCm39) |
T229M |
possibly damaging |
Het |
| Serpina3j |
T |
A |
12: 104,283,792 (GRCm39) |
W297R |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,304,614 (GRCm39) |
E193G |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,289 (GRCm39) |
I966V |
probably benign |
Het |
| Siglece |
T |
C |
7: 43,309,327 (GRCm39) |
D77G |
probably damaging |
Het |
| Sqstm1 |
G |
T |
11: 50,093,418 (GRCm39) |
Q327K |
probably benign |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,954,723 (GRCm39) |
E9G |
possibly damaging |
Het |
| Svep1 |
A |
T |
4: 58,118,207 (GRCm39) |
D838E |
possibly damaging |
Het |
| Tacc2 |
G |
A |
7: 130,330,618 (GRCm39) |
A191T |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,113,168 (GRCm39) |
W285R |
probably damaging |
Het |
| Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
| Uaca |
C |
T |
9: 60,779,120 (GRCm39) |
T1169I |
probably benign |
Het |
| Umod |
G |
T |
7: 119,076,369 (GRCm39) |
Y132* |
probably null |
Het |
| Vmn2r31 |
A |
G |
7: 7,399,480 (GRCm39) |
F159S |
probably damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,214,605 (GRCm39) |
T196I |
probably benign |
Het |
| Wrap53 |
A |
T |
11: 69,453,305 (GRCm39) |
W379R |
probably damaging |
Het |
| Zfp866 |
A |
T |
8: 70,219,221 (GRCm39) |
V133D |
probably benign |
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 |
|
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 |
|
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'- GTGTGAAGAATGCCACAAACCC -3'
(R):5'- CGTCGCCAAGAGTTCTGAAC -3'
Sequencing Primer
(F):5'- ACAGCCTTTTTGATTTTCCTAGAG -3'
(R):5'- TGAACTCTCAGCGGGGCAC -3'
|
| Posted On |
2019-08-28 |
Incidental Mutation