Incidental Mutation 'R4574:Carmil3'
ID |
342352 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Carmil3
|
Ensembl Gene |
ENSMUSG00000022211 |
Gene Name |
capping protein regulator and myosin 1 linker 3 |
Synonyms |
Lrrc16b |
MMRRC Submission |
041797-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.312)
|
Stock # |
R4574 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55728108-55745729 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
GGACGA to GGA
at 55736933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076236]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
AlphaFold |
Q3UFQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076236
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211
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 |
noncoding transcript
Transcript: ENSMUST00000226653
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227070
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227088
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228760
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
Adamts9 |
G |
A |
6: 92,856,940 (GRCm39) |
R319* |
probably null |
Het |
Anapc1 |
G |
T |
2: 128,469,115 (GRCm39) |
S1575R |
probably damaging |
Het |
Appbp2 |
A |
T |
11: 85,100,764 (GRCm39) |
|
probably null |
Het |
Bcas2 |
C |
T |
3: 103,081,666 (GRCm39) |
P90S |
probably benign |
Het |
Cd101 |
T |
C |
3: 100,920,469 (GRCm39) |
N477D |
probably benign |
Het |
Cdk12 |
A |
G |
11: 98,111,814 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
T |
C |
7: 7,290,804 (GRCm39) |
E634G |
probably benign |
Het |
Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
Cpt1b |
G |
T |
15: 89,308,247 (GRCm39) |
|
probably null |
Het |
Ctf2 |
T |
G |
7: 127,318,556 (GRCm39) |
T148P |
possibly damaging |
Het |
Ddx23 |
G |
A |
15: 98,545,505 (GRCm39) |
T601I |
probably damaging |
Het |
Dlx6 |
G |
T |
6: 6,865,305 (GRCm39) |
|
probably benign |
Het |
Dmrtb1 |
A |
T |
4: 107,534,265 (GRCm39) |
N183K |
possibly damaging |
Het |
Dnah11 |
A |
G |
12: 117,975,990 (GRCm39) |
|
probably null |
Het |
Dnah5 |
C |
T |
15: 28,367,909 (GRCm39) |
P2765S |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
Fpr-rs6 |
T |
A |
17: 20,403,359 (GRCm39) |
M1L |
probably damaging |
Het |
Gm4841 |
T |
C |
18: 60,402,998 (GRCm39) |
N365S |
probably benign |
Het |
Gsdmc2 |
C |
T |
15: 63,699,872 (GRCm39) |
|
probably null |
Het |
Irx5 |
G |
A |
8: 93,084,890 (GRCm39) |
V27I |
probably damaging |
Het |
Kmt2e |
T |
A |
5: 23,697,405 (GRCm39) |
V101D |
possibly damaging |
Het |
Maip1 |
A |
C |
1: 57,452,404 (GRCm39) |
K219Q |
possibly damaging |
Het |
Mpp7 |
G |
T |
18: 7,353,228 (GRCm39) |
R493S |
probably benign |
Het |
Ms4a14 |
T |
C |
19: 11,281,335 (GRCm39) |
T408A |
probably benign |
Het |
Mthfr |
A |
G |
4: 148,127,998 (GRCm39) |
N117S |
possibly damaging |
Het |
Mtres1 |
T |
A |
10: 43,409,006 (GRCm39) |
S46C |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,176,893 (GRCm39) |
I613V |
probably benign |
Het |
Neurl1b |
A |
G |
17: 26,650,860 (GRCm39) |
Q44R |
probably benign |
Het |
Nup54 |
T |
A |
5: 92,573,641 (GRCm39) |
N187I |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or5ak22 |
C |
A |
2: 85,230,370 (GRCm39) |
C169F |
probably damaging |
Het |
Pate2 |
C |
A |
9: 35,596,969 (GRCm39) |
|
probably benign |
Het |
Pccb |
T |
C |
9: 100,867,252 (GRCm39) |
S445G |
probably damaging |
Het |
Pex3 |
G |
A |
10: 13,411,315 (GRCm39) |
Q188* |
probably null |
Het |
Pikfyve |
T |
A |
1: 65,231,351 (GRCm39) |
W74R |
probably damaging |
Het |
Plcl2 |
T |
C |
17: 50,914,874 (GRCm39) |
S628P |
probably damaging |
Het |
Pnldc1 |
T |
C |
17: 13,111,669 (GRCm39) |
H346R |
probably benign |
Het |
Pom121l2 |
T |
A |
13: 22,168,572 (GRCm39) |
C948S |
probably benign |
Het |
Pspc1 |
A |
T |
14: 56,999,404 (GRCm39) |
M284K |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,277,919 (GRCm39) |
L414S |
probably damaging |
Het |
Rgs13 |
T |
A |
1: 144,016,583 (GRCm39) |
K53N |
probably damaging |
Het |
Rorc |
T |
C |
3: 94,296,291 (GRCm39) |
S163P |
probably benign |
Het |
Rpl3l |
A |
C |
17: 24,952,984 (GRCm39) |
T315P |
possibly damaging |
Het |
Rsph3b |
A |
G |
17: 7,172,438 (GRCm39) |
V487A |
probably benign |
Het |
Rusc2 |
A |
G |
4: 43,416,080 (GRCm39) |
E462G |
probably damaging |
Het |
Sez6l |
T |
C |
5: 112,576,344 (GRCm39) |
T838A |
probably damaging |
Het |
Slc22a14 |
A |
G |
9: 119,008,561 (GRCm39) |
Y236H |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,442,457 (GRCm39) |
R1984H |
probably damaging |
Het |
Steap3 |
G |
T |
1: 120,169,186 (GRCm39) |
D370E |
probably benign |
Het |
Sumf1 |
A |
G |
6: 108,085,393 (GRCm39) |
|
probably benign |
Het |
Telo2 |
T |
C |
17: 25,320,647 (GRCm39) |
E754G |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,972,353 (GRCm39) |
F604L |
probably damaging |
Het |
Trpm7 |
A |
T |
2: 126,639,131 (GRCm39) |
D1734E |
probably benign |
Het |
Tsfm |
A |
C |
10: 126,864,242 (GRCm39) |
Y158D |
probably damaging |
Het |
Ubtf |
T |
C |
11: 102,197,591 (GRCm39) |
|
probably benign |
Het |
Upk3a |
G |
T |
15: 84,904,752 (GRCm39) |
V167F |
possibly damaging |
Het |
Vmn2r19 |
C |
T |
6: 123,292,939 (GRCm39) |
S327L |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,858,965 (GRCm39) |
I2805N |
probably damaging |
Het |
Zfp592 |
A |
G |
7: 80,673,534 (GRCm39) |
D166G |
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 |
|
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 |
|
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'- CTGATGATGGGCCCTAAATACACG -3'
(R):5'- ACAACTGGGTGGCCTTCTTG -3'
Sequencing Primer
(F):5'- TACAGAGCATTCCAGGGGCTC -3'
(R):5'- GGCTTTCCAGATTGTAGGGAAG -3'
|
Posted On |
2015-09-24 |