Incidental Mutation 'R5534:Carmil3'
| ID |
434742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Carmil3
|
| Ensembl Gene |
ENSMUSG00000022211 |
| Gene Name |
capping protein regulator and myosin 1 linker 3 |
| Synonyms |
Lrrc16b |
| MMRRC Submission |
043092-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R5534 (G1)
|
| Quality Score |
179 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55732347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 256
(K256R)
|
| 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 damaging
Transcript: ENSMUST00000076236
AA Change: K256R
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
AA Change: K256R
| 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 |
silent
Transcript: ENSMUST00000226757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228497
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
A |
8: 25,155,530 (GRCm39) |
D163V |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,740,947 (GRCm39) |
|
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,814,442 (GRCm39) |
E355G |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,232,491 (GRCm39) |
N172S |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,510,231 (GRCm39) |
M712T |
probably damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,070,105 (GRCm39) |
I124T |
probably benign |
Het |
| Cass4 |
G |
T |
2: 172,268,688 (GRCm39) |
V259L |
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,888,241 (GRCm39) |
V508A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 58,024,450 (GRCm39) |
S226P |
possibly damaging |
Het |
| Cep72 |
T |
C |
13: 74,210,335 (GRCm39) |
E9G |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,621,227 (GRCm39) |
Y616N |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,054,939 (GRCm39) |
S117P |
possibly damaging |
Het |
| Col11a2 |
C |
T |
17: 34,269,998 (GRCm39) |
A429V |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,465,238 (GRCm39) |
E979G |
unknown |
Het |
| Coq10b |
T |
C |
1: 55,103,359 (GRCm39) |
Y46H |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,258,319 (GRCm39) |
F2188L |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,943,596 (GRCm39) |
T3169A |
possibly damaging |
Het |
| Dock6 |
G |
A |
9: 21,714,372 (GRCm39) |
R1824* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,379,818 (GRCm39) |
I1589L |
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,347,593 (GRCm39) |
T383A |
probably benign |
Het |
| Efemp1 |
T |
C |
11: 28,817,758 (GRCm39) |
V79A |
probably damaging |
Het |
| Esyt1 |
C |
T |
10: 128,355,329 (GRCm39) |
V471I |
probably benign |
Het |
| Fbxo30 |
T |
C |
10: 11,165,409 (GRCm39) |
S44P |
possibly damaging |
Het |
| Fdx2 |
G |
T |
9: 20,984,562 (GRCm39) |
D57E |
probably benign |
Het |
| Gbp11 |
A |
T |
5: 105,478,904 (GRCm39) |
V178D |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,967 (GRCm39) |
I283N |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 63,480,345 (GRCm39) |
Q53L |
probably benign |
Het |
| Jmjd6 |
A |
G |
11: 116,731,252 (GRCm39) |
S266P |
probably damaging |
Het |
| Kirrel1 |
G |
A |
3: 86,997,825 (GRCm39) |
R233C |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,735,238 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,686,267 (GRCm39) |
T1171S |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Med13 |
A |
T |
11: 86,210,191 (GRCm39) |
S650R |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mgat1 |
T |
C |
11: 49,151,976 (GRCm39) |
V153A |
probably benign |
Het |
| Mmp16 |
A |
T |
4: 18,110,452 (GRCm39) |
D416V |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,987,870 (GRCm39) |
R1448W |
probably damaging |
Het |
| Nedd1 |
A |
T |
10: 92,530,894 (GRCm39) |
F398L |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,567 (GRCm39) |
I109M |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,349 (GRCm39) |
T147A |
probably benign |
Het |
| Or5ac17 |
T |
C |
16: 59,036,403 (GRCm39) |
D191G |
probably benign |
Het |
| Or5g9 |
T |
C |
2: 85,552,331 (GRCm39) |
I194T |
probably benign |
Het |
| Otud3 |
A |
G |
4: 138,624,894 (GRCm39) |
L269P |
probably damaging |
Het |
| Otx1 |
A |
G |
11: 21,946,296 (GRCm39) |
|
probably benign |
Het |
| Pcdhga7 |
A |
C |
18: 37,849,331 (GRCm39) |
D446A |
probably damaging |
Het |
| Pcnx2 |
T |
G |
8: 126,564,754 (GRCm39) |
K1046N |
possibly damaging |
Het |
| Pfkp |
C |
A |
13: 6,698,619 (GRCm39) |
G33W |
probably damaging |
Het |
| Poglut2 |
C |
T |
1: 44,151,837 (GRCm39) |
V351M |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,188,043 (GRCm39) |
I585T |
probably damaging |
Het |
| Pole4 |
A |
G |
6: 82,629,115 (GRCm39) |
Y84H |
possibly damaging |
Het |
| Pramel26 |
G |
T |
4: 143,539,169 (GRCm39) |
S108* |
probably null |
Het |
| Ptpn23 |
A |
G |
9: 110,221,809 (GRCm39) |
S126P |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rin3 |
T |
C |
12: 102,353,891 (GRCm39) |
L766P |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rras2 |
G |
A |
7: 113,649,650 (GRCm39) |
T138I |
possibly damaging |
Het |
| Scrn2 |
A |
G |
11: 96,921,751 (GRCm39) |
I74V |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,501,735 (GRCm39) |
I526T |
possibly damaging |
Het |
| Shd |
G |
T |
17: 56,278,577 (GRCm39) |
E47* |
probably null |
Het |
| Slc22a27 |
T |
C |
19: 7,903,996 (GRCm39) |
H47R |
probably damaging |
Het |
| Slc36a3 |
C |
G |
11: 55,033,595 (GRCm39) |
W141S |
possibly damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,376,977 (GRCm39) |
V429E |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,976,296 (GRCm39) |
D428E |
probably benign |
Het |
| Snrpe |
A |
T |
1: 133,534,211 (GRCm39) |
F84Y |
probably benign |
Het |
| Tbc1d2b |
C |
T |
9: 90,109,559 (GRCm39) |
D306N |
possibly damaging |
Het |
| Trav9n-4 |
A |
G |
14: 53,532,356 (GRCm39) |
Y70C |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,936,367 (GRCm39) |
F843L |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,870,847 (GRCm39) |
I330T |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,488,349 (GRCm39) |
L12P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,436,713 (GRCm39) |
S2047P |
unknown |
Het |
| Zfp763 |
A |
C |
17: 33,240,768 (GRCm39) |
S20R |
probably 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 |
|
|
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 |
|
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'- GCCTACAACCAGTGGTTCAC -3'
(R):5'- ACATGAAGTGCATTGTGGGG -3'
Sequencing Primer
(F):5'- CTCTACTGCAAAGACTTGAGACTGG -3'
(R):5'- GAGAGTAAGTTGTGGTGACATCG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation