Incidental Mutation 'R6888:Limch1'
| ID |
537036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limch1
|
| Ensembl Gene |
ENSMUSG00000037736 |
| Gene Name |
LIM and calponin homology domains 1 |
| Synonyms |
3732412D22Rik |
| MMRRC Submission |
044982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67179269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 713
(T713I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038188]
[ENSMUST00000101164]
[ENSMUST00000117601]
[ENSMUST00000118242]
|
| AlphaFold |
Q3UH68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038188
AA Change: T569I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043163
Gene: ENSMUSG00000037736
AA Change: T569I
| 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 benign
Transcript: ENSMUST00000101164
AA Change: T725I
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: T725I
| 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 benign
Transcript: ENSMUST00000117601
AA Change: T566I
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113544
Gene: ENSMUSG00000037736
AA Change: T566I
| 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 benign
Transcript: ENSMUST00000118242
AA Change: T713I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: T713I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000112651
Gene: ENSMUSG00000037736
AA Change: T441I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
T |
C |
11: 120,238,141 (GRCm39) |
Y190C |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,656,788 (GRCm39) |
I2902T |
probably damaging |
Het |
| AI429214 |
G |
A |
8: 37,460,987 (GRCm39) |
G45D |
possibly damaging |
Het |
| Ambra1 |
A |
G |
2: 91,599,372 (GRCm39) |
D164G |
probably damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,545,299 (GRCm39) |
Q184L |
probably benign |
Het |
| Arhgef17 |
T |
C |
7: 100,580,027 (GRCm39) |
D307G |
possibly damaging |
Het |
| AY761185 |
A |
T |
8: 21,434,571 (GRCm39) |
Y52* |
probably null |
Het |
| Bfsp1 |
A |
G |
2: 143,668,639 (GRCm39) |
S647P |
probably benign |
Het |
| C130073F10Rik |
A |
G |
4: 101,747,453 (GRCm39) |
V192A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
| Ccdc170 |
T |
C |
10: 4,496,854 (GRCm39) |
V458A |
possibly damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,179,746 (GRCm39) |
R238W |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,384,946 (GRCm39) |
S380G |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,807,018 (GRCm39) |
H4R |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,313,729 (GRCm39) |
|
probably null |
Het |
| Cstpp1 |
A |
G |
2: 91,252,239 (GRCm39) |
Y41H |
probably damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,504,303 (GRCm39) |
V219A |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,637,502 (GRCm39) |
I266F |
probably benign |
Het |
| Dut |
A |
G |
2: 125,099,044 (GRCm39) |
D177G |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,807,076 (GRCm39) |
I331V |
probably benign |
Het |
| Gm11110 |
A |
G |
17: 57,409,143 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 111,335,314 (GRCm39) |
G575V |
possibly damaging |
Het |
| Heatr3 |
A |
G |
8: 88,897,512 (GRCm39) |
Y531C |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,910,218 (GRCm39) |
V122A |
probably benign |
Het |
| Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,949,373 (GRCm39) |
Y1915H |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,138,238 (GRCm39) |
D205E |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,361,138 (GRCm39) |
I555T |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,354,485 (GRCm39) |
F448I |
probably damaging |
Het |
| Marchf6 |
T |
C |
15: 31,459,379 (GRCm39) |
K896E |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,485,098 (GRCm39) |
Y469C |
possibly damaging |
Het |
| Niban3 |
G |
T |
8: 72,056,383 (GRCm39) |
R361L |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,588,333 (GRCm39) |
V1060A |
possibly damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,292,404 (GRCm39) |
I406T |
probably damaging |
Het |
| Odf2l |
T |
C |
3: 144,854,379 (GRCm39) |
|
probably null |
Het |
| Or2y15 |
A |
T |
11: 49,351,087 (GRCm39) |
T194S |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,608 (GRCm39) |
M120T |
probably damaging |
Het |
| Pals2 |
T |
G |
6: 50,157,257 (GRCm39) |
|
probably null |
Het |
| Pbx2 |
A |
G |
17: 34,813,081 (GRCm39) |
Y119C |
possibly damaging |
Het |
| Pdcd6ip |
C |
A |
9: 113,500,905 (GRCm39) |
A526S |
probably benign |
Het |
| Prx |
G |
A |
7: 27,219,059 (GRCm39) |
D1187N |
possibly damaging |
Het |
| Ptpro |
G |
A |
6: 137,357,198 (GRCm39) |
V230I |
probably benign |
Het |
| Rtn3 |
C |
T |
19: 7,434,614 (GRCm39) |
M440I |
probably benign |
Het |
| Sar1b |
T |
C |
11: 51,679,019 (GRCm39) |
I96T |
probably damaging |
Het |
| Sds |
T |
C |
5: 120,618,965 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
A |
G |
13: 51,833,977 (GRCm39) |
T706A |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,682,263 (GRCm39) |
M433L |
possibly damaging |
Het |
| Sppl2a |
A |
G |
2: 126,746,912 (GRCm39) |
V472A |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,998,217 (GRCm39) |
E1258G |
possibly damaging |
Het |
| Tbxas1 |
C |
A |
6: 38,929,008 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,568,095 (GRCm39) |
I1333T |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,376,915 (GRCm39) |
G178D |
probably damaging |
Het |
| Tmem174 |
A |
G |
13: 98,773,569 (GRCm39) |
L87P |
probably damaging |
Het |
| Tmppe |
T |
A |
9: 114,233,769 (GRCm39) |
S23T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,591,447 (GRCm39) |
T21074I |
probably benign |
Het |
| Tub |
A |
G |
7: 108,628,505 (GRCm39) |
M338V |
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,531 (GRCm39) |
R295* |
probably null |
Het |
| Vps52 |
T |
C |
17: 34,182,180 (GRCm39) |
V518A |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,177,675 (GRCm39) |
V909A |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,925,742 (GRCm39) |
T1241A |
probably benign |
Het |
| Zfp882 |
G |
A |
8: 72,668,130 (GRCm39) |
C319Y |
probably benign |
Het |
| Znfx1 |
A |
T |
2: 166,880,860 (GRCm39) |
I308N |
possibly 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 |
|
R6547:Limch1
|
UTSW |
5 |
67,186,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6600:Limch1
|
UTSW |
5 |
66,903,281 (GRCm39) |
missense |
probably benign |
|
|
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'- AGAGTGTTCACTACATTTTCATCCC -3'
(R):5'- TGGTAAACATCGCATGCAGG -3'
Sequencing Primer
(F):5'- AGTCATGCTATAATCTCTGTG -3'
(R):5'- AGGATGCAGCCAGTTTTTCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation