Incidental Mutation 'R7319:Carmil3'
ID |
568083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil3
|
Ensembl Gene |
ENSMUSG00000022211 |
Gene Name |
capping protein regulator and myosin 1 linker 3 |
Synonyms |
Lrrc16b |
MMRRC Submission |
045415-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.275)
|
Stock # |
R7319 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55731817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 182
(I182V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022821]
[ENSMUST00000076236]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
AlphaFold |
Q3UFQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022821
|
SMART Domains |
Protein: ENSMUSP00000022821 Gene: ENSMUSG00000022210
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
34 |
229 |
7.8e-54 |
PFAM |
Pfam:KR
|
35 |
210 |
8.4e-14 |
PFAM |
Pfam:adh_short_C2
|
39 |
276 |
7.9e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076236
AA Change: I182V
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211 AA Change: I182V
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 |
probably benign
Transcript: ENSMUST00000226446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226902
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Meta Mutation Damage Score |
0.0924 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (79/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
A |
T |
14: 70,393,635 (GRCm39) |
I287N |
probably benign |
Het |
Aco2 |
G |
T |
15: 81,787,820 (GRCm39) |
E223D |
probably damaging |
Het |
Acsf3 |
T |
A |
8: 123,539,770 (GRCm39) |
I466N |
probably damaging |
Het |
Albfm1 |
G |
A |
5: 90,719,625 (GRCm39) |
|
probably null |
Het |
Aox3 |
T |
A |
1: 58,191,761 (GRCm39) |
F438I |
probably benign |
Het |
Arhgap33 |
T |
C |
7: 30,225,794 (GRCm39) |
T591A |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,888,694 (GRCm39) |
A191V |
probably benign |
Het |
Btg2 |
T |
C |
1: 134,006,779 (GRCm39) |
K5E |
probably benign |
Het |
C1galt1 |
T |
A |
6: 7,871,150 (GRCm39) |
Y329N |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,608,435 (GRCm39) |
I824T |
possibly damaging |
Het |
Ccdc150 |
T |
A |
1: 54,302,496 (GRCm39) |
|
probably null |
Het |
Chek1 |
T |
A |
9: 36,633,939 (GRCm39) |
R129W |
probably damaging |
Het |
Chrna6 |
A |
G |
8: 27,896,815 (GRCm39) |
M354T |
possibly damaging |
Het |
Cpq |
A |
G |
15: 33,250,185 (GRCm39) |
T181A |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,287,472 (GRCm39) |
Y1069F |
|
Het |
Defb28 |
T |
A |
2: 152,361,974 (GRCm39) |
C45S |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 31,018,551 (GRCm39) |
Y1360H |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,823,608 (GRCm39) |
V3749A |
possibly damaging |
Het |
Dnah7c |
T |
A |
1: 46,819,935 (GRCm39) |
D3728E |
probably benign |
Het |
Dym |
G |
A |
18: 75,196,245 (GRCm39) |
|
probably null |
Het |
Dync2i2 |
G |
A |
2: 29,928,341 (GRCm39) |
P95L |
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,747,903 (GRCm39) |
|
probably null |
Het |
Eef1akmt4 |
A |
G |
16: 20,436,666 (GRCm39) |
K163E |
probably benign |
Het |
Fbrs |
A |
G |
7: 127,081,985 (GRCm39) |
T242A |
possibly damaging |
Het |
Fgfr3 |
G |
A |
5: 33,885,146 (GRCm39) |
V87M |
possibly damaging |
Het |
Fst |
A |
T |
13: 114,595,068 (GRCm39) |
C19S |
probably benign |
Het |
Gm7276 |
G |
A |
18: 77,273,216 (GRCm39) |
R173W |
unknown |
Het |
Gm9195 |
G |
A |
14: 72,697,929 (GRCm39) |
H1284Y |
probably benign |
Het |
Herc6 |
C |
A |
6: 57,581,074 (GRCm39) |
T258K |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,137,174 (GRCm39) |
Y678C |
probably damaging |
Het |
Ifne |
A |
T |
4: 88,798,243 (GRCm39) |
N58K |
probably damaging |
Het |
Ighv1-26 |
A |
T |
12: 114,752,163 (GRCm39) |
H60Q |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,746,520 (GRCm39) |
F1276L |
probably damaging |
Het |
Itprid2 |
A |
T |
2: 79,466,416 (GRCm39) |
D82V |
probably damaging |
Het |
Kcnc4 |
T |
A |
3: 107,366,100 (GRCm39) |
E36V |
probably benign |
Het |
Kcnq2 |
C |
T |
2: 180,750,895 (GRCm39) |
G315S |
probably damaging |
Het |
Kdm4c |
G |
A |
4: 74,255,200 (GRCm39) |
V585M |
probably damaging |
Het |
Klhl26 |
C |
T |
8: 70,905,592 (GRCm39) |
R106H |
probably damaging |
Het |
Kmo |
T |
C |
1: 175,481,221 (GRCm39) |
F313S |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,443,740 (GRCm39) |
S808T |
unknown |
Het |
Lrch3 |
A |
G |
16: 32,815,363 (GRCm39) |
T585A |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,637,977 (GRCm39) |
H86Q |
|
Het |
Map3k20 |
A |
G |
2: 72,195,062 (GRCm39) |
D113G |
probably damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,417 (GRCm39) |
S181P |
probably benign |
Het |
Mccc2 |
T |
C |
13: 100,104,241 (GRCm39) |
T303A |
probably benign |
Het |
Med27 |
A |
G |
2: 29,303,490 (GRCm39) |
R147G |
possibly damaging |
Het |
Mrps5 |
T |
A |
2: 127,437,762 (GRCm39) |
S196R |
possibly damaging |
Het |
Muc21 |
GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG |
GGGGTGGG |
17: 35,932,935 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
T |
8: 10,526,185 (GRCm39) |
|
probably null |
Het |
Nudt2 |
A |
T |
4: 41,477,575 (GRCm39) |
M19L |
probably benign |
Het |
Pcdha11 |
C |
T |
18: 37,146,245 (GRCm39) |
P779S |
probably benign |
Het |
Phykpl |
A |
G |
11: 51,489,530 (GRCm39) |
T379A |
probably benign |
Het |
Plekha8 |
A |
C |
6: 54,601,206 (GRCm39) |
M270L |
probably benign |
Het |
Plekhg5 |
A |
G |
4: 152,192,885 (GRCm39) |
H593R |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,637,196 (GRCm39) |
N293S |
possibly damaging |
Het |
Pramel32 |
G |
A |
4: 88,548,184 (GRCm39) |
P74S |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,532 (GRCm39) |
N866K |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,757,790 (GRCm39) |
I308L |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,177,309 (GRCm39) |
V1003A |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
Rnaset2b |
A |
T |
17: 7,259,166 (GRCm39) |
D144V |
probably benign |
Het |
Senp6 |
T |
G |
9: 80,033,481 (GRCm39) |
D662E |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,200,817 (GRCm39) |
N200S |
possibly damaging |
Het |
Serpinb9g |
C |
G |
13: 33,672,543 (GRCm39) |
Y113* |
probably null |
Het |
Sgf29 |
T |
C |
7: 126,270,821 (GRCm39) |
I134T |
probably benign |
Het |
Sh3bp4 |
T |
G |
1: 89,080,824 (GRCm39) |
|
probably null |
Het |
Stab1 |
G |
A |
14: 30,862,783 (GRCm39) |
L2243F |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,769,770 (GRCm39) |
V149A |
probably benign |
Het |
Syt3 |
C |
T |
7: 44,041,953 (GRCm39) |
Q271* |
probably null |
Het |
Tas2r109 |
A |
G |
6: 132,957,663 (GRCm39) |
I89T |
probably benign |
Het |
Tgif1 |
A |
G |
17: 71,151,847 (GRCm39) |
S255P |
probably damaging |
Het |
Tm9sf1 |
G |
A |
14: 55,875,432 (GRCm39) |
|
probably benign |
Het |
Tnf |
A |
G |
17: 35,419,347 (GRCm39) |
F161S |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,579,428 (GRCm39) |
S779R |
possibly damaging |
Het |
Topors |
A |
G |
4: 40,260,540 (GRCm39) |
S915P |
unknown |
Het |
Tpm4 |
C |
T |
8: 72,900,321 (GRCm39) |
L161F |
probably damaging |
Het |
Trim38 |
C |
T |
13: 23,975,384 (GRCm39) |
T441I |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,141,620 (GRCm39) |
M548V |
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,883,042 (GRCm39) |
T237S |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,309,209 (GRCm39) |
S538P |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,813,294 (GRCm39) |
T649I |
probably benign |
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 |
|
R1503:Carmil3
|
UTSW |
14 |
55,735,737 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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'- TTCTCTGAGACCTACGCTGC -3'
(R):5'- TGAACCACTGGTTGTAGGCC -3'
Sequencing Primer
(F):5'- TGCCCTGTGTGACTACAATGGAC -3'
(R):5'- CAGATCTCTGGGGATATCCGATAG -3'
|
Posted On |
2019-06-26 |