Incidental Mutation 'R4956:Afap1l2'
| ID |
381614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afap1l2
|
| Ensembl Gene |
ENSMUSG00000025083 |
| Gene Name |
actin filament associated protein 1-like 2 |
| Synonyms |
|
| MMRRC Submission |
042553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4956 (G1)
|
| Quality Score |
118 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56931879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 49
(M49V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
[ENSMUST00000126964]
[ENSMUST00000148049]
|
| AlphaFold |
Q5DTU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111584
AA Change: M123V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: M123V
| 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 benign
Transcript: ENSMUST00000118800
AA Change: M105V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: M105V
| 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 benign
Transcript: ENSMUST00000122359
AA Change: M49V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: M49V
| 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
AA Change: M49V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123400
Gene: ENSMUSG00000025083
AA Change: M49V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
1 |
79 |
5e-36 |
BLAST |
|
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148049
AA Change: M49V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120490
Gene: ENSMUSG00000025083
AA Change: M49V
| 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 |
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
G |
16: 4,672,816 (GRCm39) |
K866E |
probably damaging |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,643 (GRCm39) |
F583L |
probably benign |
Het |
| Atxn7l3b |
A |
G |
10: 112,764,501 (GRCm39) |
C43R |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,833,904 (GRCm39) |
V617A |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,108,958 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,614,316 (GRCm39) |
F193Y |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,420,221 (GRCm39) |
S141G |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,851,045 (GRCm39) |
F7Y |
probably damaging |
Het |
| Cpn2 |
T |
A |
16: 30,079,233 (GRCm39) |
Q156L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,216,354 (GRCm39) |
D416E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Eif2s3y |
A |
G |
Y: 1,023,407 (GRCm39) |
T430A |
possibly damaging |
Het |
| Enah |
G |
A |
1: 181,745,854 (GRCm39) |
T401I |
probably damaging |
Het |
| Esp38 |
T |
G |
17: 40,266,053 (GRCm39) |
I54R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,086,028 (GRCm39) |
R152W |
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,758,383 (GRCm39) |
|
probably benign |
Het |
| Fzd9 |
G |
A |
5: 135,278,796 (GRCm39) |
A363V |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,869,987 (GRCm39) |
I451N |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,388,948 (GRCm39) |
T172A |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,742,885 (GRCm39) |
T1695M |
probably damaging |
Het |
| Ipo13 |
G |
A |
4: 117,758,768 (GRCm39) |
A699V |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,331,960 (GRCm39) |
|
probably null |
Het |
| Klra17 |
A |
G |
6: 129,850,279 (GRCm39) |
L57P |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,339,530 (GRCm39) |
D280E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,524,675 (GRCm39) |
F662L |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,231,431 (GRCm39) |
H792L |
probably damaging |
Het |
| Nlrx1 |
T |
A |
9: 44,173,909 (GRCm39) |
K431* |
probably null |
Het |
| Nos1 |
A |
G |
5: 118,085,575 (GRCm39) |
N1301S |
probably benign |
Het |
| Obp2b |
A |
G |
2: 25,627,087 (GRCm39) |
T7A |
probably damaging |
Het |
| Odc1 |
T |
C |
12: 17,597,958 (GRCm39) |
I95T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 89,833,187 (GRCm39) |
V146M |
probably benign |
Het |
| Or5b97 |
C |
T |
19: 12,878,963 (GRCm39) |
M60I |
probably damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,741,993 (GRCm39) |
I290T |
possibly damaging |
Het |
| Or6c1 |
A |
T |
10: 129,517,968 (GRCm39) |
F213L |
probably benign |
Het |
| Pcif1 |
A |
T |
2: 164,731,610 (GRCm39) |
Q521L |
probably damaging |
Het |
| Plekhg2 |
A |
C |
7: 28,067,780 (GRCm39) |
L223R |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,018,772 (GRCm39) |
N270D |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,636 (GRCm39) |
L417* |
probably null |
Het |
| Psmd6 |
C |
T |
14: 14,116,166 (GRCm38) |
V141I |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,121 (GRCm39) |
Y111* |
probably null |
Het |
| Rell2 |
G |
A |
18: 38,090,758 (GRCm39) |
R145H |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,745,426 (GRCm39) |
K614R |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,878,275 (GRCm39) |
I1001V |
probably benign |
Het |
| Shbg |
C |
T |
11: 69,508,045 (GRCm39) |
E107K |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,244,247 (GRCm39) |
P345L |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,857,681 (GRCm39) |
E391D |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,077,520 (GRCm39) |
D200G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,700,601 (GRCm39) |
T144A |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vgll3 |
T |
C |
16: 65,624,820 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r71 |
C |
T |
7: 85,268,436 (GRCm39) |
T213I |
probably benign |
Het |
| Wtap |
T |
C |
17: 13,186,423 (GRCm39) |
T375A |
probably benign |
Het |
| Yipf2 |
T |
G |
9: 21,503,204 (GRCm39) |
T88P |
probably damaging |
Het |
| Zfp382 |
T |
A |
7: 29,830,979 (GRCm39) |
D89E |
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,524,209 (GRCm39) |
|
probably benign |
Het |
| Zpr1 |
C |
T |
9: 46,185,961 (GRCm39) |
T144I |
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 |
|
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 |
|
|
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'- CACAGGCACTTGAGAAAGGC -3'
(R):5'- GCCTGGGTAATTAACACCTGC -3'
Sequencing Primer
(F):5'- ACTTGAGAAAGGCTCCCCAGG -3'
(R):5'- GGGTAATTAACACCTGCTCAAATAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation