Incidental Mutation 'R6439:Afap1l2'
| ID |
518956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afap1l2
|
| Ensembl Gene |
ENSMUSG00000025083 |
| Gene Name |
actin filament associated protein 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
044577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56916818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 219
(N219D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
[ENSMUST00000126964]
[ENSMUST00000148049]
[ENSMUST00000225394]
|
| AlphaFold |
Q5DTU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111584
AA Change: N237D
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: N237D
| 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 |
possibly damaging
Transcript: ENSMUST00000118800
AA Change: N219D
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: N219D
| 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 |
possibly damaging
Transcript: ENSMUST00000122359
AA Change: N163D
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: N163D
| 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: ENSMUST00000126964
|
| SMART Domains |
Protein: ENSMUSP00000123400
Gene: ENSMUSG00000025083
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
5e-36 |
BLAST |
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148049
AA Change: N163D
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000120490
Gene: ENSMUSG00000025083
AA Change: N163D
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225394
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
T |
C |
15: 57,895,444 (GRCm39) |
D18G |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,653 (GRCm39) |
V88A |
probably damaging |
Het |
| Abhd6 |
T |
C |
14: 8,055,589 (GRCm38) |
L272P |
probably damaging |
Het |
| Adam25 |
C |
T |
8: 41,207,627 (GRCm39) |
R298C |
possibly damaging |
Het |
| Adam34l |
T |
C |
8: 44,078,988 (GRCm39) |
N412S |
probably damaging |
Het |
| Brd3 |
A |
G |
2: 27,353,938 (GRCm39) |
F58S |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,892,253 (GRCm39) |
R332H |
possibly damaging |
Het |
| Cfap57 |
C |
A |
4: 118,446,172 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
G |
7: 73,130,154 (GRCm39) |
F834L |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,111,126 (GRCm39) |
K140E |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,731 (GRCm39) |
T534A |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,102,487 (GRCm39) |
V14I |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,359,257 (GRCm39) |
E291V |
probably damaging |
Het |
| Hbp1 |
A |
G |
12: 31,987,720 (GRCm39) |
L146S |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,799,276 (GRCm39) |
D616G |
possibly damaging |
Het |
| Igfbp5 |
A |
C |
1: 72,902,300 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,287,022 (GRCm39) |
|
probably null |
Het |
| Mpl |
T |
C |
4: 118,305,750 (GRCm39) |
D425G |
probably damaging |
Het |
| Ms4a4c |
T |
C |
19: 11,398,676 (GRCm39) |
S165P |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,392,911 (GRCm39) |
S3217P |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,810,502 (GRCm39) |
L426* |
probably null |
Het |
| Or4f47 |
T |
C |
2: 111,972,509 (GRCm39) |
V73A |
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,068 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,818 (GRCm39) |
Y260N |
probably damaging |
Het |
| Phf1 |
G |
T |
17: 27,155,586 (GRCm39) |
V384L |
probably benign |
Het |
| Rangap1 |
T |
C |
15: 81,596,336 (GRCm39) |
T259A |
probably benign |
Het |
| Rec8 |
A |
G |
14: 55,856,076 (GRCm39) |
N6S |
possibly damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,934,971 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,118,945 (GRCm39) |
Y617C |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,400,221 (GRCm39) |
S744G |
probably benign |
Het |
| Ttc14 |
T |
C |
3: 33,862,968 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,214,032 (GRCm39) |
E219G |
possibly damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,704 (GRCm39) |
D169G |
possibly damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,413,064 (GRCm39) |
|
probably null |
Het |
| Zfp326 |
T |
G |
5: 106,036,584 (GRCm39) |
M76R |
probably null |
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 |
|
R6194:Afap1l2
|
UTSW |
19 |
56,911,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- ACATCATCCGACCCTTTAGAAG -3'
(R):5'- AGGGTATCCAGCCCTATGAC -3'
Sequencing Primer
(F):5'- TCCGACCCTTTAGAAGAAGCTGG -3'
(R):5'- GGTATCCAGCCCTATGACTTAGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation