Incidental Mutation 'R8698:Carmil1'
| ID |
668866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil1
|
| Ensembl Gene |
ENSMUSG00000021338 |
| Gene Name |
capping protein regulator and myosin 1 linker 1 |
| Synonyms |
Carmil, Lrrc16a, 1110037D04Rik, Lrrc16 |
| MMRRC Submission |
068552-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8698 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
24196327-24464778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24220229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 1165
(G1165D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072889]
[ENSMUST00000110398]
[ENSMUST00000125901]
|
| AlphaFold |
Q6EDY6 |
| PDB Structure |
Solution structure of the CARMIL CAH3a/b domain bound to capping protein (CP) [SOLUTION NMR]
Crystal structure of Actin Capping Protein in complex with the Cp-binding motif derived from CARMIL [X-RAY DIFFRACTION]
Crystal structure of Actin capping protein in complex with CARMIL fragment [X-RAY DIFFRACTION]
Crystal Structure of mouse CARMIL residues 1-668 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072889
AA Change: G1165D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072662
Gene: ENSMUSG00000021338
AA Change: G1165D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
LRR
|
245 |
272 |
2.42e1 |
SMART |
|
LRR
|
275 |
302 |
1.04e1 |
SMART |
|
LRR
|
304 |
331 |
3.1e0 |
SMART |
|
LRR
|
336 |
363 |
5.66e1 |
SMART |
|
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
|
Blast:LRR
|
451 |
484 |
7e-9 |
BLAST |
|
LRR
|
574 |
601 |
8.81e-2 |
SMART |
|
Blast:LRR
|
602 |
629 |
6e-10 |
BLAST |
|
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
|
Pfam:CARMIL_C
|
790 |
1083 |
1.1e-101 |
PFAM |
|
low complexity region
|
1131 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1287 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1317 |
1332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110398
AA Change: G1161D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106028
Gene: ENSMUSG00000021338
AA Change: G1161D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
LRR
|
245 |
272 |
2.42e1 |
SMART |
|
LRR
|
275 |
302 |
1.04e1 |
SMART |
|
LRR
|
304 |
331 |
3.1e0 |
SMART |
|
LRR
|
336 |
363 |
5.66e1 |
SMART |
|
Blast:LRR
|
423 |
450 |
9e-8 |
BLAST |
|
LRR
|
451 |
480 |
3.15e1 |
SMART |
|
Pfam:LRR_6
|
481 |
507 |
1.9e-2 |
PFAM |
|
LRR
|
570 |
597 |
8.81e-2 |
SMART |
|
Blast:LRR
|
598 |
625 |
6e-10 |
BLAST |
|
low complexity region
|
741 |
754 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
888 |
N/A |
INTRINSIC |
|
PDB:3LK3|T
|
964 |
1076 |
1e-56 |
PDB |
|
low complexity region
|
1127 |
1143 |
N/A |
INTRINSIC |
|
low complexity region
|
1241 |
1247 |
N/A |
INTRINSIC |
|
low complexity region
|
1249 |
1264 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1292 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125901
AA Change: G761D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126522
Gene: ENSMUSG00000021338
AA Change: G761D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRR
|
13 |
40 |
5e-8 |
BLAST |
|
Blast:LRR
|
41 |
74 |
4e-9 |
BLAST |
|
Pfam:LRR_6
|
75 |
101 |
4.4e-2 |
PFAM |
|
Pfam:LRR_6
|
164 |
187 |
1.6e-3 |
PFAM |
|
Blast:LRR
|
192 |
219 |
7e-10 |
BLAST |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
|
PDB:3LK3|T
|
564 |
676 |
4e-57 |
PDB |
|
low complexity region
|
727 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: No abnormal phenotype was observed in a high-throughput screen, nor in a pathology assessment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,247,250 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,306,714 (GRCm39) |
N1384S |
probably benign |
Het |
| Adgre1 |
T |
C |
17: 57,709,003 (GRCm39) |
S65P |
probably benign |
Het |
| Adgrl4 |
G |
T |
3: 151,203,512 (GRCm39) |
C124F |
probably damaging |
Het |
| Aldh1b1 |
G |
A |
4: 45,802,942 (GRCm39) |
G160D |
probably damaging |
Het |
| Alpi |
T |
G |
1: 87,028,208 (GRCm39) |
D205A |
probably damaging |
Het |
| AW146154 |
C |
A |
7: 41,129,934 (GRCm39) |
R394L |
probably benign |
Het |
| Bcl10 |
G |
A |
3: 145,639,022 (GRCm39) |
M221I |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,037,436 (GRCm39) |
R768H |
probably damaging |
Het |
| Cad |
G |
T |
5: 31,234,819 (GRCm39) |
R2116L |
probably benign |
Het |
| Cand2 |
G |
T |
6: 115,763,852 (GRCm39) |
R258L |
probably damaging |
Het |
| Car4 |
A |
T |
11: 84,855,009 (GRCm39) |
N119I |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,212,647 (GRCm39) |
T403A |
probably benign |
Het |
| Cdon |
T |
G |
9: 35,398,269 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,607,790 (GRCm39) |
I739V |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,234,201 (GRCm39) |
I59T |
probably damaging |
Het |
| Clec4f |
A |
T |
6: 83,630,267 (GRCm39) |
V97D |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,225,149 (GRCm39) |
C515R |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 47,026,156 (GRCm39) |
G935D |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,023,974 (GRCm39) |
H553R |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,708,886 (GRCm39) |
S423P |
probably damaging |
Het |
| Cox15 |
C |
T |
19: 43,739,948 (GRCm39) |
R39H |
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 77,630,100 (GRCm39) |
V131A |
probably benign |
Het |
| Dcst2 |
T |
A |
3: 89,276,044 (GRCm39) |
F392I |
probably benign |
Het |
| Decr1 |
A |
G |
4: 15,922,483 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
C |
15: 73,394,154 (GRCm39) |
T60P |
possibly damaging |
Het |
| Dipk1a |
A |
T |
5: 108,057,776 (GRCm39) |
F261I |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,281,953 (GRCm39) |
N2859S |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,428,418 (GRCm39) |
I280F |
probably benign |
Het |
| Dnah8 |
A |
C |
17: 31,094,009 (GRCm39) |
D4701A |
probably damaging |
Het |
| Dyrk1a |
C |
A |
16: 94,487,414 (GRCm39) |
H541Q |
possibly damaging |
Het |
| Eml4 |
T |
C |
17: 83,785,345 (GRCm39) |
S906P |
probably benign |
Het |
| Fam169a |
G |
T |
13: 97,243,578 (GRCm39) |
V203F |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,260,152 (GRCm39) |
L682F |
unknown |
Het |
| Gli2 |
T |
C |
1: 118,769,887 (GRCm39) |
Y555C |
probably damaging |
Het |
| Gm3278 |
A |
G |
14: 16,081,505 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Gm8237 |
T |
A |
14: 5,863,554 (GRCm38) |
Y37F |
probably damaging |
Het |
| Golga4 |
T |
G |
9: 118,385,029 (GRCm39) |
L717R |
probably damaging |
Het |
| Gtpbp4 |
C |
T |
13: 9,024,249 (GRCm39) |
R568H |
probably benign |
Het |
| Il1f10 |
A |
G |
2: 24,183,197 (GRCm39) |
N47S |
probably damaging |
Het |
| Itga6 |
A |
G |
2: 71,673,618 (GRCm39) |
H884R |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,286,518 (GRCm39) |
K482R |
probably benign |
Het |
| Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,278,583 (GRCm39) |
R3923S |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,288,767 (GRCm39) |
V3700M |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,636,400 (GRCm39) |
D1458G |
probably benign |
Het |
| Mapre2 |
T |
A |
18: 24,011,090 (GRCm39) |
S233T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,296,937 (GRCm39) |
D2699G |
possibly damaging |
Het |
| Mthfr |
T |
A |
4: 148,128,947 (GRCm39) |
Y214* |
probably null |
Het |
| Ncoa6 |
A |
T |
2: 155,257,041 (GRCm39) |
M834K |
possibly damaging |
Het |
| Neurl2 |
C |
T |
2: 164,675,054 (GRCm39) |
D103N |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,060,159 (GRCm39) |
I93N |
unknown |
Het |
| Or1j15 |
T |
C |
2: 36,458,915 (GRCm39) |
Y102H |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,571 (GRCm39) |
V8E |
probably benign |
Het |
| Or2b7 |
G |
A |
13: 21,739,890 (GRCm39) |
L101F |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,022,596 (GRCm39) |
V288A |
possibly damaging |
Het |
| Pde6b |
G |
T |
5: 108,576,105 (GRCm39) |
S730I |
possibly damaging |
Het |
| Pdpk1 |
A |
T |
17: 24,298,542 (GRCm39) |
V496D |
probably damaging |
Het |
| Plekho2 |
A |
T |
9: 65,463,554 (GRCm39) |
L432M |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,082,362 (GRCm39) |
L151P |
unknown |
Het |
| Ppp2r3c |
G |
A |
12: 55,328,499 (GRCm39) |
T422I |
probably benign |
Het |
| Prelid3a |
T |
C |
18: 67,610,122 (GRCm39) |
S151P |
probably damaging |
Het |
| Rad21l |
G |
A |
2: 151,487,373 (GRCm39) |
P537L |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,802 (GRCm39) |
S4283T |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,373,843 (GRCm39) |
D1139E |
probably benign |
Het |
| Scn9a |
G |
T |
2: 66,366,628 (GRCm39) |
H718Q |
probably benign |
Het |
| Slc1a3 |
A |
T |
15: 8,668,636 (GRCm39) |
I443N |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,600,889 (GRCm39) |
M361V |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,891,132 (GRCm39) |
Y724C |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,197,284 (GRCm39) |
S777T |
possibly damaging |
Het |
| Sltm |
T |
C |
9: 70,494,352 (GRCm39) |
S901P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,997,047 (GRCm39) |
H524Q |
probably benign |
Het |
| Spast |
T |
C |
17: 74,666,341 (GRCm39) |
S225P |
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,231,246 (GRCm39) |
R252W |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,179,229 (GRCm39) |
L4415P |
probably damaging |
Het |
| Tmem117 |
A |
T |
15: 94,535,990 (GRCm39) |
Y8F |
probably benign |
Het |
| Tmem241 |
T |
C |
18: 12,197,288 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tomm40 |
C |
T |
7: 19,444,890 (GRCm39) |
V164I |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,548,841 (GRCm39) |
Y12H |
probably benign |
Het |
| Twnk |
T |
C |
19: 44,996,299 (GRCm39) |
V244A |
probably benign |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,952 (GRCm39) |
S122P |
probably damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,539 (GRCm39) |
K50R |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,151,390 (GRCm39) |
F75L |
probably benign |
Het |
| Wbp4 |
G |
T |
14: 79,707,573 (GRCm39) |
Y179* |
probably null |
Het |
| Zfp106 |
A |
G |
2: 120,354,600 (GRCm39) |
|
probably null |
Het |
| Zfp974 |
A |
T |
7: 27,610,361 (GRCm39) |
C455S |
possibly damaging |
Het |
|
| Other mutations in Carmil1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00096:Carmil1
|
APN |
13 |
24,295,821 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL00392:Carmil1
|
APN |
13 |
24,278,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Carmil1
|
APN |
13 |
24,295,869 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01375:Carmil1
|
APN |
13 |
24,278,454 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02043:Carmil1
|
APN |
13 |
24,208,299 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02122:Carmil1
|
APN |
13 |
24,220,541 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02178:Carmil1
|
APN |
13 |
24,278,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Carmil1
|
APN |
13 |
24,259,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02269:Carmil1
|
APN |
13 |
24,339,393 (GRCm39) |
nonsense |
probably null |
|
|
IGL02546:Carmil1
|
APN |
13 |
24,299,482 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02740:Carmil1
|
APN |
13 |
24,278,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02876:Carmil1
|
APN |
13 |
24,338,651 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02976:Carmil1
|
APN |
13 |
24,276,534 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03012:Carmil1
|
APN |
13 |
24,220,355 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03107:Carmil1
|
APN |
13 |
24,278,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
H8562:Carmil1
|
UTSW |
13 |
24,248,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0085:Carmil1
|
UTSW |
13 |
24,209,850 (GRCm39) |
missense |
probably benign |
|
|
R0119:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0166:Carmil1
|
UTSW |
13 |
24,283,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0299:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0304:Carmil1
|
UTSW |
13 |
24,323,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0335:Carmil1
|
UTSW |
13 |
24,257,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Carmil1
|
UTSW |
13 |
24,266,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0462:Carmil1
|
UTSW |
13 |
24,206,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1203:Carmil1
|
UTSW |
13 |
24,282,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Carmil1
|
UTSW |
13 |
24,283,037 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1730:Carmil1
|
UTSW |
13 |
24,225,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Carmil1
|
UTSW |
13 |
24,357,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Carmil1
|
UTSW |
13 |
24,348,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1893:Carmil1
|
UTSW |
13 |
24,208,446 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2099:Carmil1
|
UTSW |
13 |
24,357,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Carmil1
|
UTSW |
13 |
24,325,656 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2296:Carmil1
|
UTSW |
13 |
24,299,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
|
R2872:Carmil1
|
UTSW |
13 |
24,229,051 (GRCm39) |
synonymous |
silent |
|
|
R3113:Carmil1
|
UTSW |
13 |
24,253,740 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3508:Carmil1
|
UTSW |
13 |
24,203,659 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3780:Carmil1
|
UTSW |
13 |
24,321,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3954:Carmil1
|
UTSW |
13 |
24,197,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4027:Carmil1
|
UTSW |
13 |
24,251,206 (GRCm39) |
splice site |
probably benign |
|
|
R4086:Carmil1
|
UTSW |
13 |
24,208,444 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4647:Carmil1
|
UTSW |
13 |
24,321,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Carmil1
|
UTSW |
13 |
24,325,659 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4792:Carmil1
|
UTSW |
13 |
24,251,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5012:Carmil1
|
UTSW |
13 |
24,208,403 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5166:Carmil1
|
UTSW |
13 |
24,338,966 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5199:Carmil1
|
UTSW |
13 |
24,295,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5330:Carmil1
|
UTSW |
13 |
24,209,929 (GRCm39) |
splice site |
probably null |
|
|
R5472:Carmil1
|
UTSW |
13 |
24,339,454 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5478:Carmil1
|
UTSW |
13 |
24,296,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Carmil1
|
UTSW |
13 |
24,339,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Carmil1
|
UTSW |
13 |
24,460,520 (GRCm39) |
missense |
probably benign |
|
|
R5789:Carmil1
|
UTSW |
13 |
24,305,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Carmil1
|
UTSW |
13 |
24,276,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Carmil1
|
UTSW |
13 |
24,253,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Carmil1
|
UTSW |
13 |
24,220,335 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6128:Carmil1
|
UTSW |
13 |
24,197,177 (GRCm39) |
nonsense |
probably null |
|
|
R6403:Carmil1
|
UTSW |
13 |
24,265,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Carmil1
|
UTSW |
13 |
24,220,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6451:Carmil1
|
UTSW |
13 |
24,276,541 (GRCm39) |
nonsense |
probably null |
|
|
R6684:Carmil1
|
UTSW |
13 |
24,206,525 (GRCm39) |
missense |
unknown |
|
|
R6891:Carmil1
|
UTSW |
13 |
24,325,706 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6902:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6924:Carmil1
|
UTSW |
13 |
24,259,667 (GRCm39) |
nonsense |
probably null |
|
|
R6946:Carmil1
|
UTSW |
13 |
24,299,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7038:Carmil1
|
UTSW |
13 |
24,323,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Carmil1
|
UTSW |
13 |
24,204,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Carmil1
|
UTSW |
13 |
24,197,387 (GRCm39) |
missense |
probably benign |
|
|
R7286:Carmil1
|
UTSW |
13 |
24,197,377 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7397:Carmil1
|
UTSW |
13 |
24,228,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7412:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7611:Carmil1
|
UTSW |
13 |
24,197,315 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7642:Carmil1
|
UTSW |
13 |
24,251,189 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7827:Carmil1
|
UTSW |
13 |
24,220,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7890:Carmil1
|
UTSW |
13 |
24,197,215 (GRCm39) |
missense |
|
|
|
R8014:Carmil1
|
UTSW |
13 |
24,220,304 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8068:Carmil1
|
UTSW |
13 |
24,259,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8214:Carmil1
|
UTSW |
13 |
24,228,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8247:Carmil1
|
UTSW |
13 |
24,282,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8272:Carmil1
|
UTSW |
13 |
24,220,562 (GRCm39) |
missense |
probably benign |
|
|
R8318:Carmil1
|
UTSW |
13 |
24,220,442 (GRCm39) |
missense |
probably benign |
|
|
R8361:Carmil1
|
UTSW |
13 |
24,251,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8469:Carmil1
|
UTSW |
13 |
24,296,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Carmil1
|
UTSW |
13 |
24,209,863 (GRCm39) |
missense |
probably benign |
|
|
R8722:Carmil1
|
UTSW |
13 |
24,220,568 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8836:Carmil1
|
UTSW |
13 |
24,339,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Carmil1
|
UTSW |
13 |
24,325,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8931:Carmil1
|
UTSW |
13 |
24,338,704 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8932:Carmil1
|
UTSW |
13 |
24,197,179 (GRCm39) |
missense |
|
|
|
R9004:Carmil1
|
UTSW |
13 |
24,225,662 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9041:Carmil1
|
UTSW |
13 |
24,282,793 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9103:Carmil1
|
UTSW |
13 |
24,295,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9224:Carmil1
|
UTSW |
13 |
24,292,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9428:Carmil1
|
UTSW |
13 |
24,295,834 (GRCm39) |
nonsense |
probably null |
|
|
R9460:Carmil1
|
UTSW |
13 |
24,253,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Carmil1
|
UTSW |
13 |
24,323,357 (GRCm39) |
missense |
probably benign |
|
|
R9548:Carmil1
|
UTSW |
13 |
24,460,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Carmil1
|
UTSW |
13 |
24,283,026 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1088:Carmil1
|
UTSW |
13 |
24,228,165 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGAATCTGGACTCTGAATTC -3'
(R):5'- TGATGACGGAAGAGCTCTCC -3'
Sequencing Primer
(F):5'- CCCTGGAACTGACGTTACTGATG -3'
(R):5'- GAGCTCTCCTCCCCGAAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation