Incidental Mutation 'R5335:Limch1'
ID |
423467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Limch1
|
Ensembl Gene |
ENSMUSG00000037736 |
Gene Name |
LIM and calponin homology domains 1 |
Synonyms |
3732412D22Rik |
MMRRC Submission |
042916-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R5335 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 67039300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 76
(I76F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101164]
[ENSMUST00000118242]
[ENSMUST00000130228]
|
AlphaFold |
Q3UH68 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101164
AA Change: I76F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000098723 Gene: ENSMUSG00000037736 AA Change: I76F
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: ENSMUST00000118242
AA Change: I76F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112732 Gene: ENSMUSG00000037736 AA Change: I76F
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 |
possibly damaging
Transcript: ENSMUST00000130228
AA Change: I76F
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000116126 Gene: ENSMUSG00000037736 AA Change: I76F
Domain | Start | End | E-Value | Type |
Pfam:CH
|
25 |
77 |
2.2e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201852
|
Meta Mutation Damage Score |
0.2924 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010003K11Rik |
A |
G |
19: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
Ankrd6 |
T |
C |
4: 32,818,651 (GRCm39) |
E225G |
probably damaging |
Het |
Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
F2 |
T |
C |
2: 91,465,277 (GRCm39) |
K96E |
possibly damaging |
Het |
Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
Glmp |
G |
T |
3: 88,233,962 (GRCm39) |
|
probably benign |
Het |
Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
Kcnip2 |
C |
A |
19: 45,782,685 (GRCm39) |
A133S |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Srgap1 |
C |
T |
10: 121,621,282 (GRCm39) |
|
probably benign |
Het |
Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,754 (GRCm39) |
T195A |
possibly damaging |
Het |
Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
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 |
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'- AGAGCTTGTTACCCACACAC -3'
(R):5'- AGGTGCCATTTGGACATGG -3'
Sequencing Primer
(F):5'- TTGTTACCCACACACATAGAGGCTG -3'
(R):5'- ACATGGCTGGAATTTTTCACG -3'
|
Posted On |
2016-08-04 |