Incidental Mutation 'R3787:Carmil3'
| ID |
272339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil3
|
| Ensembl Gene |
ENSMUSG00000022211 |
| Gene Name |
capping protein regulator and myosin 1 linker 3 |
| Synonyms |
Lrrc16b |
| MMRRC Submission |
040754-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
R3787 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55734433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 418
(F418S)
|
| 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: F418S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: F418S
| 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: ENSMUST00000227312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228497
|
| Meta Mutation Damage Score |
0.8635 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,268 (GRCm39) |
D65G |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,493 (GRCm39) |
R62L |
possibly damaging |
Het |
| Bmp4 |
C |
T |
14: 46,623,171 (GRCm39) |
|
probably null |
Het |
| Bptf |
C |
A |
11: 106,964,653 (GRCm39) |
D1514Y |
probably damaging |
Het |
| Ccdc112 |
C |
T |
18: 46,432,365 (GRCm39) |
R72H |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,092 (GRCm39) |
Y371H |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,070 (GRCm39) |
Y403H |
probably damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,668 (GRCm39) |
V352A |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,277,162 (GRCm39) |
D2893G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,974,015 (GRCm39) |
D2800G |
probably damaging |
Het |
| Dnaja2 |
C |
T |
8: 86,267,015 (GRCm39) |
G281R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,727,035 (GRCm39) |
T449A |
probably benign |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,657,583 (GRCm39) |
S519R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,819 (GRCm39) |
Y655C |
probably benign |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,492,076 (GRCm39) |
V415A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,012 (GRCm39) |
N1007K |
possibly damaging |
Het |
| Mpped1 |
A |
T |
15: 83,680,784 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,380,670 (GRCm39) |
V116A |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,970,503 (GRCm39) |
I270T |
possibly damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,041,994 (GRCm39) |
D26G |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Or13a28 |
G |
A |
7: 140,217,748 (GRCm39) |
V45I |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
| Pde4dip |
G |
T |
3: 97,622,868 (GRCm39) |
P1447Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,326,242 (GRCm39) |
T59A |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,489,583 (GRCm39) |
A193V |
probably damaging |
Het |
| Pramel48 |
T |
A |
5: 95,630,756 (GRCm39) |
L211Q |
probably damaging |
Het |
| Prdm15 |
G |
T |
16: 97,598,945 (GRCm39) |
H904Q |
probably benign |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,772,199 (GRCm39) |
D162E |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,206 (GRCm39) |
L2528Q |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,453,357 (GRCm39) |
S264T |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Sipa1l2 |
C |
T |
8: 126,149,944 (GRCm39) |
A1602T |
probably benign |
Het |
| Sipa1l2 |
C |
A |
8: 126,177,122 (GRCm39) |
C1164F |
possibly damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,685,483 (GRCm39) |
L254I |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,874,816 (GRCm39) |
N291S |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,805,141 (GRCm39) |
D279V |
possibly damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,048 (GRCm39) |
T203I |
possibly damaging |
Het |
| Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,805,751 (GRCm39) |
M294L |
probably benign |
Het |
| Vmn2r58 |
C |
T |
7: 41,513,498 (GRCm39) |
D382N |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
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 |
|
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'- GTCCAAGATCTTAAGAGCCGC -3'
(R):5'- CTGAAGAAGTGCCCTGTAGTGG -3'
Sequencing Primer
(F):5'- AGATCTTAAGAGCCGCTGCGTC -3'
(R):5'- GGAAGGTCAGTAGGCCCAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation