Incidental Mutation 'R6547:Limch1'
| ID |
521264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limch1
|
| Ensembl Gene |
ENSMUSG00000037736 |
| Gene Name |
LIM and calponin homology domains 1 |
| Synonyms |
3732412D22Rik |
| MMRRC Submission |
044672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67186117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 806
(E806V)
|
| 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: E639V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043163
Gene: ENSMUSG00000037736
AA Change: E639V
| 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: E795V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: E795V
| 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: E636V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113544
Gene: ENSMUSG00000037736
AA Change: E636V
| 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: E806V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: E806V
| 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: E511V
|
| SMART Domains |
Protein: ENSMUSP00000112651
Gene: ENSMUSG00000037736
AA Change: E511V
| 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 |
0.1479 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,490,251 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,224,757 (GRCm39) |
V490E |
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,323,350 (GRCm39) |
G106V |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,957,000 (GRCm39) |
T276A |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,519,461 (GRCm39) |
V119A |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,158,257 (GRCm39) |
|
probably null |
Het |
| Atm |
T |
C |
9: 53,351,457 (GRCm39) |
Y2964C |
probably damaging |
Het |
| Bbs9 |
T |
C |
9: 22,425,365 (GRCm39) |
Y140H |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,717,177 (GRCm39) |
D94E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,706,327 (GRCm39) |
Y937N |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,195 (GRCm39) |
T1197S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,442,708 (GRCm39) |
A779T |
probably damaging |
Het |
| Clec9a |
T |
A |
6: 129,393,339 (GRCm39) |
V94D |
probably benign |
Het |
| Colec12 |
G |
T |
18: 9,840,351 (GRCm39) |
L57F |
probably damaging |
Het |
| Fa2h |
T |
C |
8: 112,074,652 (GRCm39) |
Y317C |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,448,607 (GRCm39) |
T1282A |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Hcn2 |
G |
T |
10: 79,552,986 (GRCm39) |
V162L |
probably benign |
Het |
| Hycc1 |
T |
C |
5: 24,170,098 (GRCm39) |
N417S |
probably benign |
Het |
| Kbtbd11 |
T |
A |
8: 15,077,641 (GRCm39) |
V80E |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,949,652 (GRCm39) |
D915G |
probably damaging |
Het |
| Mppe1 |
T |
C |
18: 67,362,059 (GRCm39) |
I169V |
probably benign |
Het |
| Msc |
A |
C |
1: 14,825,969 (GRCm39) |
S2A |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,319,348 (GRCm39) |
|
probably null |
Het |
| Nr3c2 |
A |
T |
8: 77,635,438 (GRCm39) |
I180F |
possibly damaging |
Het |
| Nrap |
G |
T |
19: 56,339,998 (GRCm39) |
H840N |
probably benign |
Het |
| Or8a1 |
T |
A |
9: 37,641,791 (GRCm39) |
M163L |
probably benign |
Het |
| Pate13 |
T |
A |
9: 35,819,781 (GRCm39) |
M15K |
probably null |
Het |
| Pdlim1 |
G |
A |
19: 40,211,564 (GRCm39) |
T243I |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,831,188 (GRCm39) |
M318L |
probably benign |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,099 (GRCm39) |
R426L |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,572,226 (GRCm39) |
N674D |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,240,528 (GRCm39) |
T875I |
unknown |
Het |
| Rtn1 |
G |
T |
12: 72,355,535 (GRCm39) |
S137Y |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,546,241 (GRCm39) |
I935V |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,822,180 (GRCm39) |
V251M |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,621 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,737,981 (GRCm39) |
|
probably null |
Het |
| Slc2a5 |
T |
A |
4: 150,220,076 (GRCm39) |
V164D |
possibly damaging |
Het |
| Slc4a1 |
T |
A |
11: 102,247,561 (GRCm39) |
T441S |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,920,042 (GRCm39) |
I366V |
possibly damaging |
Het |
| Syt14 |
G |
T |
1: 192,584,177 (GRCm39) |
H696N |
possibly damaging |
Het |
| Tcaim |
T |
A |
9: 122,643,531 (GRCm39) |
V77D |
probably benign |
Het |
| Tefm |
T |
G |
11: 80,031,210 (GRCm39) |
|
probably null |
Het |
| Tekt3 |
T |
A |
11: 62,961,304 (GRCm39) |
S158T |
possibly damaging |
Het |
| Tspan11 |
T |
A |
6: 127,926,766 (GRCm39) |
M238K |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,495,780 (GRCm39) |
T476S |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,444,612 (GRCm39) |
L109Q |
probably damaging |
Homo |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,880,647 (GRCm39) |
Q3495K |
probably damaging |
Het |
| Zbtb10 |
G |
A |
3: 9,316,763 (GRCm39) |
A192T |
probably benign |
Het |
| Zfp316 |
A |
T |
5: 143,239,952 (GRCm39) |
V689D |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,666,716 (GRCm39) |
|
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,844,100 (GRCm39) |
L1046P |
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 |
|
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 |
|
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'- ACCCAAGAGTATGTGTCTTTTGTG -3'
(R):5'- TAGACCGCAGACAACGTGATC -3'
Sequencing Primer
(F):5'- GCGGTGCAGATGCTTTAGATTCC -3'
(R):5'- GCAGACAACGTGATCCTCTTAAAGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation