Incidental Mutation 'R5748:Anln'
| ID |
501488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anln
|
| Ensembl Gene |
ENSMUSG00000036777 |
| Gene Name |
anillin, actin binding protein |
| Synonyms |
1110037A17Rik, Scraps, 2900037I21Rik |
| MMRRC Submission |
043355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R5748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
22243308-22300484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22249230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 166
(K166E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040912]
[ENSMUST00000215006]
|
| AlphaFold |
Q8K298 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040912
AA Change: K1023E
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045873
Gene: ENSMUSG00000036777
AA Change: K1023E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
121 |
N/A |
INTRINSIC |
|
Pfam:Anillin_N
|
141 |
227 |
5e-34 |
PFAM |
|
low complexity region
|
234 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
298 |
N/A |
INTRINSIC |
|
Pfam:Anillin_N
|
423 |
501 |
2.7e-6 |
PFAM |
|
coiled coil region
|
566 |
599 |
N/A |
INTRINSIC |
|
coiled coil region
|
710 |
729 |
N/A |
INTRINSIC |
|
low complexity region
|
749 |
759 |
N/A |
INTRINSIC |
|
Pfam:Anillin
|
797 |
950 |
8.8e-39 |
PFAM |
|
PH
|
981 |
1106 |
1.8e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215006
AA Change: K166E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217010
|
| Meta Mutation Damage Score |
0.5010 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
| Acy1 |
T |
A |
9: 106,313,926 (GRCm39) |
N78I |
probably damaging |
Het |
| C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
| Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
| Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
| Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
| Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,591 (GRCm39) |
S852C |
probably damaging |
Het |
| Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
| Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
| Nacad |
T |
A |
11: 6,548,370 (GRCm39) |
K1426* |
probably null |
Het |
| Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
| Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
| Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
| Nup85 |
T |
A |
11: 115,471,338 (GRCm39) |
L110Q |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
| Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
| Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
| Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
| Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rundc3a |
G |
A |
11: 102,290,225 (GRCm39) |
E189K |
possibly damaging |
Het |
| Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
| Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
| Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
| Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
| Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
| Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
| Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
| Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
| Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
| Upf1 |
A |
G |
8: 70,791,167 (GRCm39) |
L525P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,452,981 (GRCm39) |
I301V |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
probably damaging |
Het |
|
| Other mutations in Anln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Anln
|
APN |
9 |
22,272,120 (GRCm39) |
nonsense |
probably null |
|
|
IGL01634:Anln
|
APN |
9 |
22,271,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02145:Anln
|
APN |
9 |
22,250,292 (GRCm39) |
splice site |
probably null |
|
|
IGL02296:Anln
|
APN |
9 |
22,283,483 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02352:Anln
|
APN |
9 |
22,279,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02601:Anln
|
APN |
9 |
22,249,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02821:Anln
|
APN |
9 |
22,269,418 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02863:Anln
|
APN |
9 |
22,287,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03274:Anln
|
APN |
9 |
22,293,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Anln
|
UTSW |
9 |
22,264,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0486:Anln
|
UTSW |
9 |
22,264,122 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0712:Anln
|
UTSW |
9 |
22,291,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1618:Anln
|
UTSW |
9 |
22,262,214 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1734:Anln
|
UTSW |
9 |
22,262,251 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1856:Anln
|
UTSW |
9 |
22,264,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Anln
|
UTSW |
9 |
22,244,348 (GRCm39) |
makesense |
probably null |
|
|
R2073:Anln
|
UTSW |
9 |
22,244,464 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2075:Anln
|
UTSW |
9 |
22,244,464 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2696:Anln
|
UTSW |
9 |
22,272,259 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2943:Anln
|
UTSW |
9 |
22,267,342 (GRCm39) |
splice site |
probably null |
|
|
R4278:Anln
|
UTSW |
9 |
22,245,296 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4548:Anln
|
UTSW |
9 |
22,274,184 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4887:Anln
|
UTSW |
9 |
22,291,484 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4979:Anln
|
UTSW |
9 |
22,287,797 (GRCm39) |
missense |
probably benign |
|
|
R5087:Anln
|
UTSW |
9 |
22,286,340 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5197:Anln
|
UTSW |
9 |
22,264,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5353:Anln
|
UTSW |
9 |
22,271,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5863:Anln
|
UTSW |
9 |
22,249,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6146:Anln
|
UTSW |
9 |
22,287,604 (GRCm39) |
nonsense |
probably null |
|
|
R6152:Anln
|
UTSW |
9 |
22,271,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6170:Anln
|
UTSW |
9 |
22,279,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6261:Anln
|
UTSW |
9 |
22,275,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Anln
|
UTSW |
9 |
22,245,413 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6656:Anln
|
UTSW |
9 |
22,262,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Anln
|
UTSW |
9 |
22,293,545 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7514:Anln
|
UTSW |
9 |
22,272,153 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7789:Anln
|
UTSW |
9 |
22,263,333 (GRCm39) |
missense |
|
|
|
R7807:Anln
|
UTSW |
9 |
22,272,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Anln
|
UTSW |
9 |
22,274,019 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7912:Anln
|
UTSW |
9 |
22,269,965 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8246:Anln
|
UTSW |
9 |
22,262,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8720:Anln
|
UTSW |
9 |
22,284,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8839:Anln
|
UTSW |
9 |
22,267,468 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9054:Anln
|
UTSW |
9 |
22,272,116 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9094:Anln
|
UTSW |
9 |
22,249,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9507:Anln
|
UTSW |
9 |
22,274,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Anln
|
UTSW |
9 |
22,283,536 (GRCm39) |
nonsense |
probably null |
|
|
R9802:Anln
|
UTSW |
9 |
22,245,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9803:Anln
|
UTSW |
9 |
22,283,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Anln
|
UTSW |
9 |
22,274,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCATCCATAATTACTGTTAGCTA -3'
(R):5'- ACTGAAAGATACGATAAAATCATGCA -3'
Sequencing Primer
(F):5'- TTACTGTTAGCTATAGGAGGGCACAC -3'
(R):5'- AGTTTCCAATGTCAGCCAGG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation