Incidental Mutation 'R1503:Carmil3'
ID |
169484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil3
|
Ensembl Gene |
ENSMUSG00000022211 |
Gene Name |
capping protein regulator and myosin 1 linker 3 |
Synonyms |
Lrrc16b |
MMRRC Submission |
039553-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R1503 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 55735737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Threonine
at position 563
(N563T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076236]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
AlphaFold |
Q3UFQ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076236
AA Change: N563T
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211 AA Change: N563T
Domain | Start | End | E-Value | Type |
low complexity region
|
138 |
151 |
N/A |
INTRINSIC |
internal_repeat_1
|
203 |
297 |
7.56e-6 |
PROSPERO |
Blast:LRR
|
333 |
362 |
5e-10 |
BLAST |
Blast:LRR
|
423 |
446 |
1e-5 |
BLAST |
low complexity region
|
447 |
462 |
N/A |
INTRINSIC |
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
internal_repeat_1
|
496 |
593 |
7.56e-6 |
PROSPERO |
Pfam:CARMIL_C
|
778 |
1065 |
5.3e-76 |
PFAM |
low complexity region
|
1068 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1137 |
1146 |
N/A |
INTRINSIC |
low complexity region
|
1204 |
1216 |
N/A |
INTRINSIC |
low complexity region
|
1318 |
1329 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227088
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228497
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Atf7ip |
G |
T |
6: 136,583,865 (GRCm39) |
V1299L |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,610,881 (GRCm39) |
N342Y |
probably damaging |
Het |
Atp8b5 |
G |
A |
4: 43,344,430 (GRCm39) |
G439D |
probably damaging |
Het |
Bpifb2 |
G |
A |
2: 153,731,430 (GRCm39) |
D269N |
possibly damaging |
Het |
Btd |
T |
G |
14: 31,389,612 (GRCm39) |
C444W |
probably damaging |
Het |
Cacna1a |
A |
G |
8: 85,328,575 (GRCm39) |
D1624G |
probably benign |
Het |
Cars1 |
T |
C |
7: 143,122,726 (GRCm39) |
R538G |
probably benign |
Het |
Catsperd |
A |
G |
17: 56,961,525 (GRCm39) |
K416E |
possibly damaging |
Het |
Cc2d2a |
A |
T |
5: 43,852,581 (GRCm39) |
Y386F |
probably damaging |
Het |
Ccpg1 |
A |
G |
9: 72,906,760 (GRCm39) |
N66S |
probably benign |
Het |
Cd48 |
T |
A |
1: 171,523,415 (GRCm39) |
L86H |
probably damaging |
Het |
Cdan1 |
A |
T |
2: 120,560,056 (GRCm39) |
H369Q |
probably damaging |
Het |
Chil4 |
T |
C |
3: 106,113,350 (GRCm39) |
D189G |
probably benign |
Het |
Cit |
T |
A |
5: 116,011,959 (GRCm39) |
Y189N |
possibly damaging |
Het |
Cntn3 |
G |
A |
6: 102,441,526 (GRCm39) |
Q7* |
probably null |
Het |
Csn1s2a |
A |
T |
5: 87,923,658 (GRCm39) |
I5F |
possibly damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,435,523 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
A |
T |
9: 54,354,272 (GRCm39) |
Y391* |
probably null |
Het |
Dnah12 |
T |
C |
14: 26,495,649 (GRCm39) |
S1426P |
probably damaging |
Het |
Dnhd1 |
T |
G |
7: 105,342,867 (GRCm39) |
S1404A |
possibly damaging |
Het |
Drosha |
T |
A |
15: 12,848,159 (GRCm39) |
C484S |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,582,736 (GRCm39) |
I125F |
probably damaging |
Het |
Egfr |
T |
A |
11: 16,819,301 (GRCm39) |
M277K |
possibly damaging |
Het |
Eml5 |
G |
T |
12: 98,797,433 (GRCm39) |
L1059I |
probably damaging |
Het |
Erbb4 |
G |
T |
1: 68,385,705 (GRCm39) |
H295N |
probably benign |
Het |
Etl4 |
T |
G |
2: 20,748,685 (GRCm39) |
V139G |
possibly damaging |
Het |
Fhip1a |
T |
A |
3: 85,579,784 (GRCm39) |
Y807F |
possibly damaging |
Het |
Frem3 |
A |
T |
8: 81,413,647 (GRCm39) |
E1969D |
probably damaging |
Het |
Gdf3 |
T |
A |
6: 122,583,296 (GRCm39) |
D357V |
probably damaging |
Het |
Gimap8 |
T |
A |
6: 48,624,463 (GRCm39) |
|
probably null |
Het |
Gml2 |
C |
A |
15: 74,693,201 (GRCm39) |
S68* |
probably null |
Het |
Gphn |
A |
G |
12: 78,551,403 (GRCm39) |
I248V |
possibly damaging |
Het |
Greb1 |
A |
T |
12: 16,774,820 (GRCm39) |
Y192* |
probably null |
Het |
Hmbs |
A |
C |
9: 44,248,729 (GRCm39) |
L215W |
probably benign |
Het |
Iglon5 |
T |
A |
7: 43,128,449 (GRCm39) |
T123S |
probably benign |
Het |
Ints2 |
C |
T |
11: 86,117,607 (GRCm39) |
R705H |
probably damaging |
Het |
Ints8 |
A |
T |
4: 11,245,842 (GRCm39) |
L212Q |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,797,293 (GRCm39) |
Y846C |
probably benign |
Het |
Kcnj1 |
A |
G |
9: 32,307,788 (GRCm39) |
T51A |
probably damaging |
Het |
Kif9 |
A |
T |
9: 110,339,506 (GRCm39) |
K449N |
possibly damaging |
Het |
Kifbp |
A |
G |
10: 62,395,187 (GRCm39) |
V485A |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,428,333 (GRCm39) |
W241* |
probably null |
Het |
Krt32 |
T |
C |
11: 99,974,936 (GRCm39) |
|
probably null |
Het |
Loxl1 |
A |
G |
9: 58,200,923 (GRCm39) |
F513S |
probably damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,123,897 (GRCm39) |
S571T |
probably damaging |
Het |
Mcam |
C |
T |
9: 44,052,588 (GRCm39) |
R606C |
probably damaging |
Het |
Mtss1 |
T |
C |
15: 58,823,521 (GRCm39) |
N282S |
probably damaging |
Het |
Myh13 |
T |
A |
11: 67,244,500 (GRCm39) |
D1012E |
probably benign |
Het |
Myo16 |
A |
G |
8: 10,552,817 (GRCm39) |
T952A |
probably benign |
Het |
Neb |
T |
C |
2: 52,188,632 (GRCm39) |
D874G |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,040,403 (GRCm39) |
Y553H |
probably damaging |
Het |
Nr2c2 |
T |
A |
6: 92,082,312 (GRCm39) |
V9D |
probably benign |
Het |
Nxf1 |
T |
A |
19: 8,739,800 (GRCm39) |
F51L |
probably benign |
Het |
Or1e1f |
T |
G |
11: 73,855,394 (GRCm39) |
|
probably null |
Het |
Or1j15 |
A |
T |
2: 36,458,885 (GRCm39) |
I92F |
probably damaging |
Het |
Or2aj5 |
A |
G |
16: 19,425,062 (GRCm39) |
S119P |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,872 (GRCm39) |
V250A |
probably damaging |
Het |
Or5bw2 |
A |
G |
7: 6,573,470 (GRCm39) |
N160S |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,191 (GRCm39) |
S220P |
probably damaging |
Het |
Or6z6 |
T |
C |
7: 6,491,178 (GRCm39) |
I232V |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,489,572 (GRCm39) |
N76Y |
probably damaging |
Het |
Pdzrn4 |
T |
A |
15: 92,297,685 (GRCm39) |
F217I |
probably damaging |
Het |
Ppp1r16a |
T |
A |
15: 76,578,599 (GRCm39) |
H434Q |
probably benign |
Het |
Prpf19 |
T |
A |
19: 10,878,386 (GRCm39) |
F291I |
possibly damaging |
Het |
R3hdm2 |
G |
T |
10: 127,307,695 (GRCm39) |
E319* |
probably null |
Het |
Sel1l3 |
A |
G |
5: 53,295,271 (GRCm39) |
Y777H |
probably damaging |
Het |
Serpinb5 |
G |
A |
1: 106,798,019 (GRCm39) |
A3T |
possibly damaging |
Het |
Skp2 |
C |
A |
15: 9,127,998 (GRCm39) |
V88F |
probably damaging |
Het |
Slc25a16 |
T |
C |
10: 62,764,155 (GRCm39) |
Y71H |
probably damaging |
Het |
Slc6a6 |
T |
A |
6: 91,717,973 (GRCm39) |
I304N |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sox17 |
C |
A |
1: 4,562,151 (GRCm39) |
G222C |
probably damaging |
Het |
Trmu |
T |
A |
15: 85,779,220 (GRCm39) |
V289E |
possibly damaging |
Het |
Vdac2 |
A |
G |
14: 21,887,945 (GRCm39) |
E96G |
probably damaging |
Het |
Wdhd1 |
A |
T |
14: 47,484,857 (GRCm39) |
D885E |
probably benign |
Het |
Zfp646 |
A |
G |
7: 127,479,308 (GRCm39) |
N495S |
probably damaging |
Het |
Zfp663 |
T |
C |
2: 165,194,573 (GRCm39) |
T549A |
probably damaging |
Het |
Zfp935 |
G |
A |
13: 62,602,951 (GRCm39) |
A83V |
possibly damaging |
Het |
|
Other mutations in Carmil3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Carmil3
|
APN |
14 |
55,735,755 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00498:Carmil3
|
APN |
14 |
55,739,352 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01061:Carmil3
|
APN |
14 |
55,736,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01452:Carmil3
|
APN |
14 |
55,733,515 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01606:Carmil3
|
APN |
14 |
55,731,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01633:Carmil3
|
APN |
14 |
55,731,684 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL01977:Carmil3
|
APN |
14 |
55,730,993 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02065:Carmil3
|
APN |
14 |
55,731,279 (GRCm39) |
splice site |
probably benign |
|
IGL02160:Carmil3
|
APN |
14 |
55,731,015 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02491:Carmil3
|
APN |
14 |
55,741,974 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02567:Carmil3
|
APN |
14 |
55,736,339 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02629:Carmil3
|
APN |
14 |
55,736,525 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02720:Carmil3
|
APN |
14 |
55,744,867 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03100:Carmil3
|
APN |
14 |
55,732,175 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4434001:Carmil3
|
UTSW |
14 |
55,732,145 (GRCm39) |
missense |
probably null |
1.00 |
R0023:Carmil3
|
UTSW |
14 |
55,730,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0023:Carmil3
|
UTSW |
14 |
55,730,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0027:Carmil3
|
UTSW |
14 |
55,731,860 (GRCm39) |
missense |
probably damaging |
0.96 |
R0101:Carmil3
|
UTSW |
14 |
55,735,212 (GRCm39) |
splice site |
probably benign |
|
R0321:Carmil3
|
UTSW |
14 |
55,739,698 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0370:Carmil3
|
UTSW |
14 |
55,732,899 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0465:Carmil3
|
UTSW |
14 |
55,737,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R0647:Carmil3
|
UTSW |
14 |
55,739,892 (GRCm39) |
critical splice donor site |
probably null |
|
R1635:Carmil3
|
UTSW |
14 |
55,733,739 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1715:Carmil3
|
UTSW |
14 |
55,741,989 (GRCm39) |
missense |
probably benign |
0.02 |
R1923:Carmil3
|
UTSW |
14 |
55,739,861 (GRCm39) |
missense |
probably damaging |
0.99 |
R1944:Carmil3
|
UTSW |
14 |
55,736,087 (GRCm39) |
missense |
probably damaging |
0.97 |
R2513:Carmil3
|
UTSW |
14 |
55,741,295 (GRCm39) |
missense |
probably damaging |
0.98 |
R2892:Carmil3
|
UTSW |
14 |
55,735,770 (GRCm39) |
missense |
probably damaging |
0.96 |
R3433:Carmil3
|
UTSW |
14 |
55,745,151 (GRCm39) |
missense |
probably benign |
0.05 |
R3552:Carmil3
|
UTSW |
14 |
55,744,859 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3783:Carmil3
|
UTSW |
14 |
55,734,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R3787:Carmil3
|
UTSW |
14 |
55,734,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R4181:Carmil3
|
UTSW |
14 |
55,741,412 (GRCm39) |
missense |
probably benign |
0.10 |
R4285:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
R4420:Carmil3
|
UTSW |
14 |
55,731,045 (GRCm39) |
missense |
probably damaging |
0.98 |
R4424:Carmil3
|
UTSW |
14 |
55,738,928 (GRCm39) |
missense |
probably benign |
|
R4506:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
R4507:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
R4534:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
R4535:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
R4549:Carmil3
|
UTSW |
14 |
55,743,121 (GRCm39) |
splice site |
probably null |
|
R4574:Carmil3
|
UTSW |
14 |
55,736,933 (GRCm39) |
utr 3 prime |
probably benign |
|
R4783:Carmil3
|
UTSW |
14 |
55,738,778 (GRCm39) |
critical splice donor site |
probably null |
|
R4784:Carmil3
|
UTSW |
14 |
55,738,778 (GRCm39) |
critical splice donor site |
probably null |
|
R5146:Carmil3
|
UTSW |
14 |
55,734,636 (GRCm39) |
missense |
probably benign |
0.02 |
R5279:Carmil3
|
UTSW |
14 |
55,739,028 (GRCm39) |
missense |
probably damaging |
0.98 |
R5425:Carmil3
|
UTSW |
14 |
55,731,334 (GRCm39) |
missense |
probably benign |
0.41 |
R5530:Carmil3
|
UTSW |
14 |
55,731,081 (GRCm39) |
missense |
probably damaging |
0.98 |
R5534:Carmil3
|
UTSW |
14 |
55,732,347 (GRCm39) |
missense |
probably damaging |
0.97 |
R5598:Carmil3
|
UTSW |
14 |
55,741,456 (GRCm39) |
frame shift |
probably null |
|
R5772:Carmil3
|
UTSW |
14 |
55,730,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R5896:Carmil3
|
UTSW |
14 |
55,741,456 (GRCm39) |
frame shift |
probably null |
|
R5931:Carmil3
|
UTSW |
14 |
55,736,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R6048:Carmil3
|
UTSW |
14 |
55,741,302 (GRCm39) |
missense |
probably benign |
0.00 |
R6103:Carmil3
|
UTSW |
14 |
55,742,884 (GRCm39) |
missense |
probably benign |
0.02 |
R6258:Carmil3
|
UTSW |
14 |
55,737,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Carmil3
|
UTSW |
14 |
55,737,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R6338:Carmil3
|
UTSW |
14 |
55,737,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6339:Carmil3
|
UTSW |
14 |
55,737,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6646:Carmil3
|
UTSW |
14 |
55,745,387 (GRCm39) |
missense |
probably damaging |
0.97 |
R6936:Carmil3
|
UTSW |
14 |
55,739,018 (GRCm39) |
missense |
probably benign |
0.04 |
R7164:Carmil3
|
UTSW |
14 |
55,738,739 (GRCm39) |
missense |
probably damaging |
0.98 |
R7214:Carmil3
|
UTSW |
14 |
55,736,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Carmil3
|
UTSW |
14 |
55,733,695 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7269:Carmil3
|
UTSW |
14 |
55,731,352 (GRCm39) |
missense |
probably benign |
0.03 |
R7319:Carmil3
|
UTSW |
14 |
55,731,817 (GRCm39) |
missense |
probably benign |
0.13 |
R7357:Carmil3
|
UTSW |
14 |
55,728,590 (GRCm39) |
start gained |
probably benign |
|
R7386:Carmil3
|
UTSW |
14 |
55,735,204 (GRCm39) |
critical splice donor site |
probably null |
|
R7463:Carmil3
|
UTSW |
14 |
55,739,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R7598:Carmil3
|
UTSW |
14 |
55,732,278 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7602:Carmil3
|
UTSW |
14 |
55,738,965 (GRCm39) |
missense |
probably null |
0.00 |
R7617:Carmil3
|
UTSW |
14 |
55,735,348 (GRCm39) |
missense |
probably benign |
0.06 |
R7985:Carmil3
|
UTSW |
14 |
55,734,409 (GRCm39) |
missense |
probably benign |
0.03 |
R8127:Carmil3
|
UTSW |
14 |
55,735,701 (GRCm39) |
missense |
probably damaging |
0.98 |
R8423:Carmil3
|
UTSW |
14 |
55,736,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R8465:Carmil3
|
UTSW |
14 |
55,734,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Carmil3
|
UTSW |
14 |
55,734,627 (GRCm39) |
missense |
probably benign |
0.01 |
R8955:Carmil3
|
UTSW |
14 |
55,733,534 (GRCm39) |
missense |
probably damaging |
0.98 |
R9321:Carmil3
|
UTSW |
14 |
55,741,425 (GRCm39) |
missense |
|
|
R9346:Carmil3
|
UTSW |
14 |
55,732,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R9387:Carmil3
|
UTSW |
14 |
55,731,869 (GRCm39) |
nonsense |
probably null |
|
R9578:Carmil3
|
UTSW |
14 |
55,741,293 (GRCm39) |
critical splice acceptor site |
probably null |
|
U24488:Carmil3
|
UTSW |
14 |
55,734,636 (GRCm39) |
missense |
probably benign |
0.02 |
Z1088:Carmil3
|
UTSW |
14 |
55,739,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGACTGTGTGAGTGACCTAGC -3'
(R):5'- GGTGTGACCTTCTTTGAGCAACCC -3'
Sequencing Primer
(F):5'- TATGGGGACCCACCCTAAC -3'
(R):5'- AGCCGACTCAGACATGGTTC -3'
|
Posted On |
2014-04-13 |