Incidental Mutation 'R5191:Limch1'
ID |
398132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Limch1
|
Ensembl Gene |
ENSMUSG00000037736 |
Gene Name |
LIM and calponin homology domains 1 |
Synonyms |
3732412D22Rik |
MMRRC Submission |
043263-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R5191 (G1)
|
Quality Score |
166 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67184904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 631
(L631P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038188]
[ENSMUST00000101164]
[ENSMUST00000117601]
[ENSMUST00000118242]
|
AlphaFold |
Q3UH68 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038188
AA Change: L631P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043163 Gene: ENSMUSG00000037736 AA Change: L631P
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: L787P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098723 Gene: ENSMUSG00000037736 AA Change: L787P
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: L628P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000113544 Gene: ENSMUSG00000037736 AA Change: L628P
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: L798P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112732 Gene: ENSMUSG00000037736 AA Change: L798P
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: L503P
|
SMART Domains |
Protein: ENSMUSP00000112651 Gene: ENSMUSG00000037736 AA Change: L503P
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvrl1 |
A |
G |
15: 101,034,946 (GRCm39) |
E235G |
probably damaging |
Het |
Adam26b |
T |
C |
8: 43,973,028 (GRCm39) |
D658G |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,327,843 (GRCm39) |
R1407G |
probably benign |
Het |
Aknad1 |
T |
C |
3: 108,659,306 (GRCm39) |
S107P |
probably benign |
Het |
Aknad1 |
G |
A |
3: 108,659,867 (GRCm39) |
V294I |
probably benign |
Het |
Arfgef2 |
A |
G |
2: 166,718,431 (GRCm39) |
T1407A |
probably damaging |
Het |
Atp5f1a |
C |
T |
18: 77,867,929 (GRCm39) |
P318S |
probably damaging |
Het |
Atp9a |
C |
T |
2: 168,503,983 (GRCm39) |
V494M |
possibly damaging |
Het |
Ccdc69 |
A |
T |
11: 54,943,719 (GRCm39) |
|
probably null |
Het |
Crh |
T |
C |
3: 19,748,093 (GRCm39) |
E183G |
probably damaging |
Het |
Cyp2c40 |
A |
C |
19: 39,791,035 (GRCm39) |
N265K |
probably damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,042,955 (GRCm39) |
A862T |
probably benign |
Het |
Dact3 |
T |
G |
7: 16,609,375 (GRCm39) |
V9G |
probably damaging |
Het |
Dnaaf9 |
A |
T |
2: 130,579,323 (GRCm39) |
I638N |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,965,739 (GRCm39) |
E2357G |
probably damaging |
Het |
Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
Etl4 |
G |
T |
2: 20,344,810 (GRCm39) |
S38I |
probably damaging |
Het |
Fyb2 |
G |
T |
4: 104,852,994 (GRCm39) |
C558F |
possibly damaging |
Het |
Galnt3 |
T |
C |
2: 65,924,050 (GRCm39) |
E406G |
probably damaging |
Het |
Golga3 |
T |
A |
5: 110,332,173 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
A |
11: 97,228,975 (GRCm39) |
Q1060L |
possibly damaging |
Het |
Havcr1 |
A |
T |
11: 46,647,024 (GRCm39) |
I153F |
probably benign |
Het |
Hnrnpc |
A |
T |
14: 52,314,964 (GRCm39) |
V141E |
probably damaging |
Het |
Kcnj2 |
C |
T |
11: 110,963,297 (GRCm39) |
Q230* |
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lpin1 |
T |
C |
12: 16,630,829 (GRCm39) |
N23S |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,366,755 (GRCm39) |
S1104P |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,811,088 (GRCm39) |
D73G |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,963,942 (GRCm39) |
F454L |
probably damaging |
Het |
Mcpt4 |
T |
A |
14: 56,298,466 (GRCm39) |
I90L |
probably benign |
Het |
Mfsd4b5 |
T |
C |
10: 39,846,668 (GRCm39) |
E304G |
probably damaging |
Het |
Mst1r |
G |
A |
9: 107,788,750 (GRCm39) |
R423H |
probably damaging |
Het |
Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
Muc5b |
A |
G |
7: 141,412,276 (GRCm39) |
T1741A |
unknown |
Het |
Myo1g |
C |
T |
11: 6,465,105 (GRCm39) |
A447T |
probably benign |
Het |
Nr1h2 |
C |
A |
7: 44,199,840 (GRCm39) |
A360S |
probably damaging |
Het |
Nufip1 |
A |
G |
14: 76,349,429 (GRCm39) |
K154E |
probably damaging |
Het |
Or12k8 |
T |
G |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
Or2a54 |
T |
A |
6: 43,092,800 (GRCm39) |
N41K |
probably damaging |
Het |
Or7e166 |
G |
A |
9: 19,624,630 (GRCm39) |
C169Y |
probably damaging |
Het |
Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
Plec |
T |
C |
15: 76,059,365 (GRCm39) |
E3551G |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sarm1 |
G |
A |
11: 78,387,945 (GRCm39) |
Q114* |
probably null |
Het |
Sec31a |
T |
C |
5: 100,553,370 (GRCm39) |
E112G |
possibly damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc9a2 |
G |
T |
1: 40,783,053 (GRCm39) |
R439L |
probably damaging |
Het |
Sptb |
C |
A |
12: 76,659,608 (GRCm39) |
E1097D |
probably benign |
Het |
Stk38 |
A |
C |
17: 29,193,344 (GRCm39) |
C362G |
probably benign |
Het |
Stmn2 |
A |
T |
3: 8,610,635 (GRCm39) |
M40L |
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,024,860 (GRCm39) |
T283S |
probably damaging |
Het |
Tcf4 |
A |
G |
18: 69,775,954 (GRCm39) |
S48G |
probably damaging |
Het |
Tlr4 |
A |
T |
4: 66,759,616 (GRCm39) |
H803L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,709,432 (GRCm39) |
|
probably benign |
Het |
Tyk2 |
G |
T |
9: 21,018,793 (GRCm39) |
Q1099K |
probably damaging |
Het |
Usp30 |
C |
T |
5: 114,203,755 (GRCm39) |
|
probably benign |
Het |
Vmn1r175 |
A |
G |
7: 23,508,447 (GRCm39) |
V60A |
possibly damaging |
Het |
Zc3h12d |
C |
A |
10: 7,743,582 (GRCm39) |
P451T |
possibly damaging |
Het |
Zeb2 |
T |
C |
2: 44,892,612 (GRCm39) |
S146G |
probably benign |
Het |
Zfp236 |
T |
A |
18: 82,639,548 (GRCm39) |
N1233I |
probably damaging |
Het |
Zfp954 |
A |
G |
7: 7,119,022 (GRCm39) |
V174A |
probably damaging |
Het |
Zswim1 |
G |
A |
2: 164,667,939 (GRCm39) |
S397N |
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 |
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'- TTTCTGCCACCAAAGAGGAC -3'
(R):5'- GGAAGAATCAGGCCCAAGACTC -3'
Sequencing Primer
(F):5'- TGCCACCAAAGAGGACATTTAAATG -3'
(R):5'- AAGACTCCGCTGCCTGCAC -3'
|
Posted On |
2016-07-06 |