Incidental Mutation 'R8477:Limch1'
| ID |
657299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Limch1
|
| Ensembl Gene |
ENSMUSG00000037736 |
| Gene Name |
LIM and calponin homology domains 1 |
| Synonyms |
3732412D22Rik |
| MMRRC Submission |
067921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R8477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
66903232-67214502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67131908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 133
(V133I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123337
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038188]
[ENSMUST00000101164]
[ENSMUST00000117601]
[ENSMUST00000118242]
[ENSMUST00000127184]
[ENSMUST00000132991]
|
| AlphaFold |
Q3UH68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038188
AA Change: V124I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000043163
Gene: ENSMUSG00000037736
AA Change: V124I
| 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: V280I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000098723
Gene: ENSMUSG00000037736
AA Change: V280I
| 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: V121I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113544
Gene: ENSMUSG00000037736
AA Change: V121I
| 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: V280I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112732
Gene: ENSMUSG00000037736
AA Change: V280I
| 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: V8I
| 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 |
probably benign
Transcript: ENSMUST00000127184
AA Change: V124I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114681
Gene: ENSMUSG00000037736
AA Change: V124I
| 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
|
180 |
229 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132991
AA Change: V133I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000123337
Gene: ENSMUSG00000037736
AA Change: V133I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
89 |
N/A |
INTRINSIC |
|
Pfam:DUF4757
|
103 |
269 |
2.6e-63 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,174 (GRCm39) |
S94L |
probably benign |
Het |
| Ackr1 |
C |
T |
1: 173,159,755 (GRCm39) |
G255R |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,337,785 (GRCm39) |
T560I |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,020,266 (GRCm39) |
F384I |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,943,679 (GRCm39) |
Q2671L |
probably damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,844,223 (GRCm39) |
E95G |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,385,385 (GRCm39) |
H2298Q |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,246,467 (GRCm39) |
|
probably null |
Het |
| Csnk1g1 |
T |
C |
9: 65,909,555 (GRCm39) |
L224P |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,058,708 (GRCm39) |
K241N |
probably benign |
Het |
| Cyp2c55 |
G |
T |
19: 38,999,485 (GRCm39) |
V64L |
probably damaging |
Het |
| Dlgap1 |
A |
C |
17: 70,823,967 (GRCm39) |
Q317H |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,505,212 (GRCm39) |
D108G |
probably null |
Het |
| Dpagt1 |
G |
T |
9: 44,243,390 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,138,958 (GRCm39) |
R424G |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,616,672 (GRCm39) |
K367R |
probably benign |
Het |
| Evi2 |
T |
C |
11: 79,406,891 (GRCm39) |
Y228C |
probably benign |
Het |
| Exosc10 |
A |
T |
4: 148,649,847 (GRCm39) |
I426L |
possibly damaging |
Het |
| Gba2 |
C |
T |
4: 43,569,944 (GRCm39) |
R423Q |
probably damaging |
Het |
| Gm19965 |
A |
C |
1: 116,730,854 (GRCm39) |
|
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gvin2 |
T |
C |
7: 105,548,133 (GRCm39) |
K1640E |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,879,182 (GRCm39) |
C1557S |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 107,029,684 (GRCm39) |
S799N |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,617,185 (GRCm39) |
W17R |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,696 (GRCm39) |
T2592S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,031,200 (GRCm39) |
T113I |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,370,006 (GRCm39) |
V211D |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,900,105 (GRCm39) |
Y121C |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,992,138 (GRCm39) |
T597A |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,581,279 (GRCm39) |
E688G |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,644,539 (GRCm39) |
A589T |
possibly damaging |
Het |
| Mast2 |
C |
T |
4: 116,164,407 (GRCm39) |
A1670T |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,684,942 (GRCm39) |
L949Q |
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,159,219 (GRCm39) |
V833A |
probably benign |
Het |
| Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
| Or8g28 |
A |
T |
9: 39,169,099 (GRCm39) |
Y290N |
probably damaging |
Het |
| Osgep |
C |
A |
14: 51,155,334 (GRCm39) |
A75S |
probably damaging |
Het |
| Pank1 |
C |
A |
19: 34,856,055 (GRCm39) |
R141L |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,638,307 (GRCm39) |
S278T |
probably benign |
Het |
| Pcdhgb8 |
C |
A |
18: 37,896,365 (GRCm39) |
F478L |
probably benign |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,626,312 (GRCm39) |
P1613S |
probably benign |
Het |
| Pramel55 |
A |
C |
5: 95,949,567 (GRCm39) |
M105L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,381,124 (GRCm39) |
S251A |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,320,029 (GRCm39) |
H546R |
probably damaging |
Het |
| Reck |
G |
T |
4: 43,891,011 (GRCm39) |
V50L |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,033,184 (GRCm39) |
T164A |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,346 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,575,183 (GRCm39) |
T959A |
probably damaging |
Het |
| Slc28a3 |
T |
A |
13: 58,724,609 (GRCm39) |
N215I |
possibly damaging |
Het |
| Slc2a5 |
G |
A |
4: 150,210,119 (GRCm39) |
V35I |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,718,986 (GRCm39) |
S610T |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,079 (GRCm39) |
F1624L |
probably benign |
Het |
| Tmem147 |
T |
A |
7: 30,427,656 (GRCm39) |
M86L |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,636,622 (GRCm39) |
V195A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,774,038 (GRCm39) |
S112G |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,078,693 (GRCm39) |
V424A |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,200 (GRCm39) |
I252M |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp37 |
A |
G |
4: 62,110,240 (GRCm39) |
C275R |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,757,137 (GRCm39) |
I357F |
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 |
|
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 |
|
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 |
|
| Posted On |
2021-01-18 |
Incidental Mutation