Incidental Mutation 'R5947:Afap1l1'
ID |
472260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afap1l1
|
Ensembl Gene |
ENSMUSG00000033032 |
Gene Name |
actin filament associated protein 1-like 1 |
Synonyms |
|
MMRRC Submission |
044138-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R5947 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61876771 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 361
(S361P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120472]
[ENSMUST00000154876]
|
AlphaFold |
Q8BZI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120472
AA Change: S361P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113286 Gene: ENSMUSG00000033032 AA Change: S361P
Domain | Start | End | E-Value | Type |
low complexity region
|
114 |
123 |
N/A |
INTRINSIC |
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
PH
|
221 |
318 |
4.13e-6 |
SMART |
PH
|
419 |
514 |
9.41e-10 |
SMART |
coiled coil region
|
611 |
701 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147278
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154876
|
Meta Mutation Damage Score |
0.1320 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
Validation Efficiency |
100% (70/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
T |
C |
8: 124,694,737 (GRCm39) |
|
probably null |
Het |
Abt1 |
T |
C |
13: 23,606,225 (GRCm39) |
E243G |
possibly damaging |
Het |
Alms1 |
T |
C |
6: 85,596,694 (GRCm39) |
S507P |
probably benign |
Het |
Atp13a3 |
A |
G |
16: 30,181,518 (GRCm39) |
V34A |
probably benign |
Het |
Atpaf2 |
A |
T |
11: 60,296,708 (GRCm39) |
|
probably benign |
Het |
Bbs1 |
A |
C |
19: 4,943,022 (GRCm39) |
L456R |
probably benign |
Het |
Bri3bp |
G |
T |
5: 125,529,217 (GRCm39) |
G84* |
probably null |
Het |
Bri3bp |
G |
C |
5: 125,529,218 (GRCm39) |
|
probably benign |
Het |
Car10 |
A |
C |
11: 93,381,439 (GRCm39) |
H134P |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,006,691 (GRCm39) |
E119G |
probably damaging |
Het |
Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
Dppa4 |
T |
C |
16: 48,111,471 (GRCm39) |
V100A |
possibly damaging |
Het |
Elmo1 |
G |
T |
13: 20,474,553 (GRCm39) |
E105* |
probably null |
Het |
Esrp2 |
T |
G |
8: 106,859,565 (GRCm39) |
|
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,388,835 (GRCm39) |
K108R |
possibly damaging |
Het |
Exph5 |
G |
A |
9: 53,286,522 (GRCm39) |
R1201H |
probably benign |
Het |
Galnt3 |
A |
C |
2: 65,914,500 (GRCm39) |
|
probably benign |
Het |
Gm14486 |
C |
T |
2: 30,548,813 (GRCm39) |
|
noncoding transcript |
Het |
Gna12 |
T |
A |
5: 140,746,717 (GRCm39) |
I243F |
probably damaging |
Het |
Itga5 |
A |
T |
15: 103,265,212 (GRCm39) |
W232R |
probably damaging |
Het |
Lekr1 |
A |
T |
3: 65,680,498 (GRCm39) |
|
noncoding transcript |
Het |
Lrp1 |
C |
T |
10: 127,425,423 (GRCm39) |
|
probably null |
Het |
Mast4 |
T |
C |
13: 102,872,148 (GRCm39) |
M2215V |
probably benign |
Het |
Mfap5 |
T |
C |
6: 122,502,945 (GRCm39) |
Y52H |
probably damaging |
Het |
Mrps31 |
A |
G |
8: 22,904,991 (GRCm39) |
K127E |
possibly damaging |
Het |
Mto1 |
C |
T |
9: 78,368,311 (GRCm39) |
T485M |
probably damaging |
Het |
Mybbp1a |
G |
A |
11: 72,333,257 (GRCm39) |
C107Y |
probably damaging |
Het |
Nedd4 |
G |
A |
9: 72,638,132 (GRCm39) |
|
probably benign |
Het |
Nek2 |
A |
G |
1: 191,561,597 (GRCm39) |
E360G |
probably benign |
Het |
Notch1 |
T |
A |
2: 26,352,540 (GRCm39) |
|
probably benign |
Het |
Nubp1 |
T |
C |
16: 10,238,050 (GRCm39) |
|
probably benign |
Het |
Pcdhb1 |
G |
A |
18: 37,399,726 (GRCm39) |
R559H |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,117,702 (GRCm39) |
V1684I |
probably benign |
Het |
Pggt1b |
G |
T |
18: 46,382,007 (GRCm39) |
N258K |
probably benign |
Het |
Pou6f1 |
C |
T |
15: 100,484,001 (GRCm39) |
V166M |
possibly damaging |
Het |
Pprc1 |
A |
G |
19: 46,052,111 (GRCm39) |
D546G |
possibly damaging |
Het |
Psapl1 |
T |
C |
5: 36,361,651 (GRCm39) |
V81A |
probably benign |
Het |
Rin2 |
T |
A |
2: 145,686,863 (GRCm39) |
|
probably benign |
Het |
Rpf1 |
A |
G |
3: 146,212,299 (GRCm39) |
F347S |
probably damaging |
Het |
Rrp12 |
A |
T |
19: 41,859,247 (GRCm39) |
|
probably null |
Het |
Ryr1 |
A |
T |
7: 28,771,349 (GRCm39) |
L2557Q |
probably null |
Het |
Slc1a7 |
T |
C |
4: 107,867,497 (GRCm39) |
|
probably benign |
Het |
Slc35e2 |
T |
A |
4: 155,696,171 (GRCm39) |
M186K |
possibly damaging |
Het |
Slc49a4 |
T |
C |
16: 35,550,676 (GRCm39) |
T308A |
probably benign |
Het |
Snx6 |
G |
T |
12: 54,817,549 (GRCm39) |
S116* |
probably null |
Het |
Sptan1 |
T |
C |
2: 29,884,379 (GRCm39) |
|
probably null |
Het |
Sucla2 |
T |
A |
14: 73,830,109 (GRCm39) |
M382K |
probably damaging |
Het |
Susd5 |
T |
C |
9: 113,886,659 (GRCm39) |
L16P |
possibly damaging |
Het |
Tmem260 |
G |
A |
14: 48,724,258 (GRCm39) |
A369T |
possibly damaging |
Het |
Tmprss6 |
A |
G |
15: 78,336,722 (GRCm39) |
Y393H |
probably damaging |
Het |
Tnrc6c |
A |
T |
11: 117,613,345 (GRCm39) |
Q501L |
probably damaging |
Het |
Trim17 |
A |
G |
11: 58,856,369 (GRCm39) |
Y142C |
probably damaging |
Het |
Trim65 |
T |
C |
11: 116,019,108 (GRCm39) |
R144G |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,873,547 (GRCm39) |
T601A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,564,688 (GRCm39) |
V28483E |
probably damaging |
Het |
Ube2l3 |
T |
C |
16: 17,019,340 (GRCm39) |
|
probably null |
Het |
Ube2l3 |
G |
T |
16: 17,019,336 (GRCm39) |
|
probably benign |
Het |
Yme1l1 |
T |
C |
2: 23,085,318 (GRCm39) |
|
probably benign |
Het |
Zfat |
A |
G |
15: 68,051,806 (GRCm39) |
S663P |
probably benign |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
Other mutations in Afap1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00858:Afap1l1
|
APN |
18 |
61,869,925 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01643:Afap1l1
|
APN |
18 |
61,884,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01754:Afap1l1
|
APN |
18 |
61,870,565 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01945:Afap1l1
|
APN |
18 |
61,889,934 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02025:Afap1l1
|
APN |
18 |
61,866,770 (GRCm39) |
splice site |
probably benign |
|
IGL02413:Afap1l1
|
APN |
18 |
61,866,860 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02418:Afap1l1
|
APN |
18 |
61,885,648 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02493:Afap1l1
|
APN |
18 |
61,870,594 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02888:Afap1l1
|
APN |
18 |
61,881,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03010:Afap1l1
|
APN |
18 |
61,876,390 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03122:Afap1l1
|
APN |
18 |
61,866,902 (GRCm39) |
missense |
probably benign |
|
IGL03145:Afap1l1
|
APN |
18 |
61,874,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03052:Afap1l1
|
UTSW |
18 |
61,881,894 (GRCm39) |
missense |
probably benign |
0.00 |
R0008:Afap1l1
|
UTSW |
18 |
61,889,976 (GRCm39) |
missense |
probably benign |
0.11 |
R0008:Afap1l1
|
UTSW |
18 |
61,889,976 (GRCm39) |
missense |
probably benign |
0.11 |
R0217:Afap1l1
|
UTSW |
18 |
61,879,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R0421:Afap1l1
|
UTSW |
18 |
61,884,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R0626:Afap1l1
|
UTSW |
18 |
61,872,291 (GRCm39) |
missense |
probably benign |
0.07 |
R0963:Afap1l1
|
UTSW |
18 |
61,870,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R1403:Afap1l1
|
UTSW |
18 |
61,874,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R1403:Afap1l1
|
UTSW |
18 |
61,874,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R1566:Afap1l1
|
UTSW |
18 |
61,888,714 (GRCm39) |
missense |
probably benign |
|
R1572:Afap1l1
|
UTSW |
18 |
61,870,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Afap1l1
|
UTSW |
18 |
61,876,365 (GRCm39) |
missense |
probably benign |
|
R1992:Afap1l1
|
UTSW |
18 |
61,874,842 (GRCm39) |
nonsense |
probably null |
|
R2063:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
R2064:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
R2065:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
R2066:Afap1l1
|
UTSW |
18 |
61,872,193 (GRCm39) |
critical splice donor site |
probably null |
|
R4120:Afap1l1
|
UTSW |
18 |
61,872,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R4904:Afap1l1
|
UTSW |
18 |
61,871,786 (GRCm39) |
missense |
probably benign |
0.00 |
R4997:Afap1l1
|
UTSW |
18 |
61,884,879 (GRCm39) |
missense |
probably benign |
|
R5379:Afap1l1
|
UTSW |
18 |
61,891,721 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Afap1l1
|
UTSW |
18 |
61,888,732 (GRCm39) |
missense |
probably benign |
0.00 |
R6814:Afap1l1
|
UTSW |
18 |
61,866,812 (GRCm39) |
missense |
probably benign |
0.45 |
R7085:Afap1l1
|
UTSW |
18 |
61,881,885 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7325:Afap1l1
|
UTSW |
18 |
61,869,917 (GRCm39) |
missense |
probably benign |
0.44 |
R7543:Afap1l1
|
UTSW |
18 |
61,889,972 (GRCm39) |
missense |
probably benign |
0.01 |
R7877:Afap1l1
|
UTSW |
18 |
61,879,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8041:Afap1l1
|
UTSW |
18 |
61,891,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R8253:Afap1l1
|
UTSW |
18 |
61,874,702 (GRCm39) |
missense |
probably benign |
0.43 |
R8913:Afap1l1
|
UTSW |
18 |
61,889,910 (GRCm39) |
critical splice donor site |
probably null |
|
R9443:Afap1l1
|
UTSW |
18 |
61,879,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R9521:Afap1l1
|
UTSW |
18 |
61,879,863 (GRCm39) |
missense |
probably benign |
|
R9633:Afap1l1
|
UTSW |
18 |
61,890,795 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9652:Afap1l1
|
UTSW |
18 |
61,876,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R9792:Afap1l1
|
UTSW |
18 |
61,874,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9793:Afap1l1
|
UTSW |
18 |
61,874,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9795:Afap1l1
|
UTSW |
18 |
61,874,822 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Afap1l1
|
UTSW |
18 |
61,885,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTGCAACCTGCCTGTAATTACTAG -3'
(R):5'- TGGAGTGTCTAAGTCATTGCC -3'
Sequencing Primer
(F):5'- GCCTGTAATTACTAGATATGAAAGGC -3'
(R):5'- CATATTGGCGTGTCGTCAGATACAC -3'
|
Posted On |
2017-03-31 |