Incidental Mutation 'R6194:Afap1l2'
ID |
502819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afap1l2
|
Ensembl Gene |
ENSMUSG00000025083 |
Gene Name |
actin filament associated protein 1-like 2 |
Synonyms |
|
MMRRC Submission |
044334-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R6194 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56911383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 370
(R370S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
[ENSMUST00000148049]
|
AlphaFold |
Q5DTU0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111584
AA Change: R370S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107210 Gene: ENSMUSG00000025083 AA Change: R370S
Domain | Start | End | E-Value | Type |
Blast:PH
|
30 |
153 |
3e-60 |
BLAST |
low complexity region
|
160 |
170 |
N/A |
INTRINSIC |
PH
|
194 |
291 |
9.27e-9 |
SMART |
PH
|
372 |
467 |
3.11e-10 |
SMART |
low complexity region
|
531 |
543 |
N/A |
INTRINSIC |
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
coiled coil region
|
675 |
772 |
N/A |
INTRINSIC |
low complexity region
|
791 |
804 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118800
AA Change: R352S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113745 Gene: ENSMUSG00000025083 AA Change: R352S
Domain | Start | End | E-Value | Type |
Blast:PH
|
12 |
135 |
3e-60 |
BLAST |
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
PH
|
176 |
273 |
9.27e-9 |
SMART |
PH
|
354 |
449 |
3.11e-10 |
SMART |
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
low complexity region
|
593 |
608 |
N/A |
INTRINSIC |
coiled coil region
|
657 |
754 |
N/A |
INTRINSIC |
low complexity region
|
773 |
786 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122359
AA Change: R296S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112387 Gene: ENSMUSG00000025083 AA Change: R296S
Domain | Start | End | E-Value | Type |
Blast:PH
|
1 |
79 |
3e-32 |
BLAST |
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
PH
|
120 |
217 |
9.27e-9 |
SMART |
PH
|
298 |
393 |
3.11e-10 |
SMART |
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
coiled coil region
|
601 |
698 |
N/A |
INTRINSIC |
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148049
|
SMART Domains |
Protein: ENSMUSP00000120490 Gene: ENSMUSG00000025083
Domain | Start | End | E-Value | Type |
Blast:PH
|
1 |
79 |
2e-34 |
BLAST |
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
PH
|
120 |
217 |
9.27e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155467
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031410I06Rik |
T |
C |
5: 26,309,033 (GRCm39) |
I90V |
probably benign |
Het |
Alcam |
A |
G |
16: 52,088,761 (GRCm39) |
Y537H |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Asap1 |
A |
G |
15: 64,001,058 (GRCm39) |
S508P |
probably damaging |
Het |
Atg5 |
T |
C |
10: 44,170,612 (GRCm39) |
L86P |
probably damaging |
Het |
Atp13a5 |
G |
A |
16: 29,127,057 (GRCm39) |
P502S |
probably damaging |
Het |
AW209491 |
T |
A |
13: 14,811,705 (GRCm39) |
I186K |
possibly damaging |
Het |
Baz1b |
T |
C |
5: 135,272,744 (GRCm39) |
Y1354H |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,127,926 (GRCm39) |
S1157T |
unknown |
Het |
Chil6 |
A |
G |
3: 106,312,192 (GRCm39) |
|
probably null |
Het |
Chrna1 |
A |
G |
2: 73,400,816 (GRCm39) |
V238A |
probably benign |
Het |
Cluap1 |
A |
G |
16: 3,747,770 (GRCm39) |
S308G |
probably benign |
Het |
Cntnap4 |
A |
G |
8: 113,602,061 (GRCm39) |
D1155G |
probably damaging |
Het |
Cptp |
A |
G |
4: 155,951,098 (GRCm39) |
F123L |
probably damaging |
Het |
Elapor1 |
T |
C |
3: 108,373,095 (GRCm39) |
I600V |
probably benign |
Het |
Fbxw2 |
G |
A |
2: 34,697,416 (GRCm39) |
T317I |
probably damaging |
Het |
Gc |
A |
T |
5: 89,589,438 (GRCm39) |
V197E |
probably benign |
Het |
Gusb |
C |
T |
5: 130,018,906 (GRCm39) |
V577M |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,795,228 (GRCm39) |
N2400K |
probably damaging |
Het |
Hnrnph1 |
T |
A |
11: 50,274,104 (GRCm39) |
D340E |
possibly damaging |
Het |
Hs3st1 |
C |
A |
5: 39,771,748 (GRCm39) |
K298N |
probably damaging |
Het |
Hunk |
A |
T |
16: 90,293,283 (GRCm39) |
T522S |
probably damaging |
Het |
Ifit3 |
T |
C |
19: 34,565,027 (GRCm39) |
F191S |
probably benign |
Het |
Ifnab |
T |
A |
4: 88,609,362 (GRCm39) |
K35* |
probably null |
Het |
Ifnab |
G |
T |
4: 88,609,363 (GRCm39) |
N34K |
probably damaging |
Het |
Ighmbp2 |
C |
A |
19: 3,312,003 (GRCm39) |
R917L |
possibly damaging |
Het |
Igkv13-84 |
C |
T |
6: 68,916,916 (GRCm39) |
A71V |
possibly damaging |
Het |
Irag1 |
T |
C |
7: 110,498,901 (GRCm39) |
N377D |
probably damaging |
Het |
Lim2 |
T |
A |
7: 43,085,086 (GRCm39) |
C159S |
probably damaging |
Het |
Lrrc56 |
T |
C |
7: 140,785,564 (GRCm39) |
Y147H |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,212,698 (GRCm39) |
L621P |
probably damaging |
Het |
Mapk8ip1 |
C |
A |
2: 92,219,589 (GRCm39) |
G81C |
probably damaging |
Het |
Mboat2 |
T |
A |
12: 24,996,637 (GRCm39) |
S213R |
probably benign |
Het |
Mmel1 |
T |
A |
4: 154,967,673 (GRCm39) |
C99* |
probably null |
Het |
Myo9a |
A |
G |
9: 59,777,033 (GRCm39) |
I1144V |
probably benign |
Het |
Naa15 |
A |
G |
3: 51,370,721 (GRCm39) |
T612A |
probably benign |
Het |
Naalad2 |
C |
T |
9: 18,262,443 (GRCm39) |
V362I |
probably benign |
Het |
Nbeal1 |
A |
T |
1: 60,296,643 (GRCm39) |
I1178F |
possibly damaging |
Het |
Nras |
C |
A |
3: 102,966,269 (GRCm39) |
A11E |
probably damaging |
Het |
Or13f5 |
T |
A |
4: 52,825,779 (GRCm39) |
C127* |
probably null |
Het |
Or56a3b |
G |
T |
7: 104,771,377 (GRCm39) |
V238L |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,199 (GRCm39) |
T112A |
probably damaging |
Het |
Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
Pfkfb2 |
A |
G |
1: 130,625,624 (GRCm39) |
*519Q |
probably null |
Het |
Prodh |
A |
T |
16: 17,890,381 (GRCm39) |
H515Q |
probably benign |
Het |
Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
Rbks |
T |
C |
5: 31,824,234 (GRCm39) |
E87G |
probably benign |
Het |
Scyl1 |
G |
T |
19: 5,820,334 (GRCm39) |
Q167K |
possibly damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,762 (GRCm39) |
D222E |
probably benign |
Het |
Slc36a4 |
T |
A |
9: 15,638,172 (GRCm39) |
C199* |
probably null |
Het |
Slx1b |
C |
T |
7: 126,291,503 (GRCm39) |
R187H |
possibly damaging |
Het |
Stxbp5 |
A |
G |
10: 9,693,083 (GRCm39) |
F348L |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tfpt |
A |
T |
7: 3,632,026 (GRCm39) |
L28Q |
probably damaging |
Het |
Trap1 |
G |
A |
16: 3,872,664 (GRCm39) |
T335M |
possibly damaging |
Het |
Zcchc2 |
T |
A |
1: 105,918,847 (GRCm39) |
F110I |
probably damaging |
Het |
Zfp345 |
A |
T |
2: 150,314,551 (GRCm39) |
C329S |
probably damaging |
Het |
|
Other mutations in Afap1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00424:Afap1l2
|
APN |
19 |
56,990,740 (GRCm39) |
splice site |
probably benign |
|
IGL01012:Afap1l2
|
APN |
19 |
56,918,693 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01089:Afap1l2
|
APN |
19 |
56,901,843 (GRCm39) |
splice site |
probably null |
|
IGL01150:Afap1l2
|
APN |
19 |
56,918,618 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02393:Afap1l2
|
APN |
19 |
56,902,872 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02887:Afap1l2
|
APN |
19 |
56,908,995 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03060:Afap1l2
|
APN |
19 |
56,902,682 (GRCm39) |
nonsense |
probably null |
|
R0102:Afap1l2
|
UTSW |
19 |
56,916,872 (GRCm39) |
unclassified |
probably benign |
|
R0102:Afap1l2
|
UTSW |
19 |
56,916,872 (GRCm39) |
unclassified |
probably benign |
|
R0282:Afap1l2
|
UTSW |
19 |
56,904,653 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0388:Afap1l2
|
UTSW |
19 |
56,905,674 (GRCm39) |
splice site |
probably benign |
|
R0432:Afap1l2
|
UTSW |
19 |
56,905,551 (GRCm39) |
splice site |
probably benign |
|
R0497:Afap1l2
|
UTSW |
19 |
56,918,641 (GRCm39) |
missense |
probably benign |
0.27 |
R0578:Afap1l2
|
UTSW |
19 |
56,904,214 (GRCm39) |
missense |
probably benign |
0.04 |
R0631:Afap1l2
|
UTSW |
19 |
56,904,517 (GRCm39) |
missense |
probably benign |
0.39 |
R0670:Afap1l2
|
UTSW |
19 |
56,904,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R1188:Afap1l2
|
UTSW |
19 |
56,913,501 (GRCm39) |
missense |
probably damaging |
0.97 |
R1236:Afap1l2
|
UTSW |
19 |
56,904,904 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1274:Afap1l2
|
UTSW |
19 |
56,902,995 (GRCm39) |
missense |
probably benign |
0.02 |
R1463:Afap1l2
|
UTSW |
19 |
56,918,583 (GRCm39) |
missense |
probably benign |
0.01 |
R1497:Afap1l2
|
UTSW |
19 |
56,916,743 (GRCm39) |
missense |
probably benign |
0.25 |
R1597:Afap1l2
|
UTSW |
19 |
56,902,881 (GRCm39) |
missense |
probably benign |
0.14 |
R1778:Afap1l2
|
UTSW |
19 |
56,904,638 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1795:Afap1l2
|
UTSW |
19 |
56,916,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R1991:Afap1l2
|
UTSW |
19 |
56,990,699 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2113:Afap1l2
|
UTSW |
19 |
56,901,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2242:Afap1l2
|
UTSW |
19 |
56,902,900 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3429:Afap1l2
|
UTSW |
19 |
56,904,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R3430:Afap1l2
|
UTSW |
19 |
56,904,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R3698:Afap1l2
|
UTSW |
19 |
56,904,955 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4706:Afap1l2
|
UTSW |
19 |
56,925,672 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4956:Afap1l2
|
UTSW |
19 |
56,931,879 (GRCm39) |
missense |
probably benign |
0.00 |
R4993:Afap1l2
|
UTSW |
19 |
56,906,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R5772:Afap1l2
|
UTSW |
19 |
56,911,406 (GRCm39) |
missense |
probably benign |
0.02 |
R5878:Afap1l2
|
UTSW |
19 |
56,904,107 (GRCm39) |
missense |
probably benign |
0.01 |
R6226:Afap1l2
|
UTSW |
19 |
56,904,560 (GRCm39) |
missense |
probably benign |
0.00 |
R6334:Afap1l2
|
UTSW |
19 |
56,906,408 (GRCm39) |
splice site |
probably null |
|
R6439:Afap1l2
|
UTSW |
19 |
56,916,818 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7332:Afap1l2
|
UTSW |
19 |
56,906,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Afap1l2
|
UTSW |
19 |
56,906,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R7577:Afap1l2
|
UTSW |
19 |
56,933,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R7696:Afap1l2
|
UTSW |
19 |
56,902,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R7741:Afap1l2
|
UTSW |
19 |
56,902,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R7940:Afap1l2
|
UTSW |
19 |
56,902,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R8221:Afap1l2
|
UTSW |
19 |
56,902,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R9037:Afap1l2
|
UTSW |
19 |
56,918,403 (GRCm39) |
unclassified |
probably benign |
|
R9114:Afap1l2
|
UTSW |
19 |
56,906,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R9201:Afap1l2
|
UTSW |
19 |
56,916,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R9623:Afap1l2
|
UTSW |
19 |
56,906,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9674:Afap1l2
|
UTSW |
19 |
56,922,195 (GRCm39) |
missense |
probably damaging |
0.96 |
X0062:Afap1l2
|
UTSW |
19 |
56,906,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACCCAACACTGTAGCAG -3'
(R):5'- TGGGAATAGCTGACTTGGC -3'
Sequencing Primer
(F):5'- GGACAGAACCTGGCAAAGC -3'
(R):5'- ACCTGTATACATGTGTGTACCTG -3'
|
Posted On |
2018-02-27 |