Incidental Mutation 'R5772:Afap1l2'
ID |
445479 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afap1l2
|
Ensembl Gene |
ENSMUSG00000025083 |
Gene Name |
actin filament associated protein 1-like 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5772 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56900793-56996660 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56911406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 289
(T289A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
[ENSMUST00000148049]
|
AlphaFold |
Q5DTU0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111584
AA Change: T363A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000107210 Gene: ENSMUSG00000025083 AA Change: T363A
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: T345A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000113745 Gene: ENSMUSG00000025083 AA Change: T345A
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: T289A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000112387 Gene: ENSMUSG00000025083 AA Change: T289A
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
|
Meta Mutation Damage Score |
0.0615 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (64/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932416K20Rik |
G |
A |
8: 105,524,271 (GRCm39) |
|
noncoding transcript |
Het |
Abcg8 |
A |
T |
17: 84,994,127 (GRCm39) |
E48V |
probably damaging |
Het |
Atf6 |
T |
A |
1: 170,574,758 (GRCm39) |
D560V |
probably damaging |
Het |
Bcl2l14 |
A |
T |
6: 134,404,362 (GRCm39) |
K183N |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,730,696 (GRCm39) |
L52P |
probably damaging |
Het |
Cct3 |
T |
A |
3: 88,208,274 (GRCm39) |
N61K |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 77,002,177 (GRCm39) |
V10A |
unknown |
Het |
Col26a1 |
G |
A |
5: 136,876,420 (GRCm39) |
Q67* |
probably null |
Het |
Cyp2d34 |
T |
C |
15: 82,501,341 (GRCm39) |
D329G |
probably null |
Het |
Dchs1 |
T |
A |
7: 105,422,247 (GRCm39) |
I58F |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,401,931 (GRCm39) |
L269P |
probably damaging |
Het |
Dis3l2 |
G |
A |
1: 86,806,154 (GRCm39) |
G325D |
probably damaging |
Het |
Dync1h1 |
A |
T |
12: 110,612,707 (GRCm39) |
K2861* |
probably null |
Het |
Ednra |
A |
G |
8: 78,401,696 (GRCm39) |
I198T |
possibly damaging |
Het |
Ep300 |
T |
C |
15: 81,524,115 (GRCm39) |
|
probably benign |
Het |
Fam120a |
G |
A |
13: 49,034,409 (GRCm39) |
P1068S |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,815,084 (GRCm39) |
M3606L |
probably benign |
Het |
Garre1 |
A |
T |
7: 33,953,413 (GRCm39) |
W238R |
probably damaging |
Het |
Gm7713 |
T |
C |
15: 59,866,492 (GRCm39) |
|
noncoding transcript |
Het |
Gprin3 |
A |
T |
6: 59,331,398 (GRCm39) |
V303D |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,570,629 (GRCm39) |
V2178D |
possibly damaging |
Het |
Hoxa11 |
A |
G |
6: 52,222,380 (GRCm39) |
V107A |
possibly damaging |
Het |
Iqub |
C |
A |
6: 24,454,250 (GRCm39) |
M544I |
possibly damaging |
Het |
Itgb4 |
A |
T |
11: 115,879,258 (GRCm39) |
|
probably benign |
Het |
Itpkb |
A |
G |
1: 180,161,818 (GRCm39) |
|
probably benign |
Het |
Kalrn |
A |
T |
16: 33,796,190 (GRCm39) |
V1195E |
probably damaging |
Het |
Kif12 |
C |
A |
4: 63,084,178 (GRCm39) |
R608M |
probably damaging |
Het |
Lcorl |
A |
T |
5: 45,952,709 (GRCm39) |
|
probably null |
Het |
Lrrc24 |
T |
C |
15: 76,606,910 (GRCm39) |
E162G |
probably damaging |
Het |
Med6 |
A |
G |
12: 81,626,418 (GRCm39) |
S119P |
probably damaging |
Het |
Mmab |
A |
C |
5: 114,574,775 (GRCm39) |
L166R |
probably damaging |
Het |
Myef2l |
A |
G |
3: 10,153,566 (GRCm39) |
R112G |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,651,873 (GRCm39) |
K737R |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,946,970 (GRCm39) |
S4352G |
probably damaging |
Het |
Or10ag60 |
A |
T |
2: 87,438,517 (GRCm39) |
T262S |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,504,712 (GRCm39) |
D307E |
probably benign |
Het |
Or4k35 |
A |
T |
2: 111,100,057 (GRCm39) |
Y218* |
probably null |
Het |
Or6d12 |
A |
C |
6: 116,492,912 (GRCm39) |
D58A |
possibly damaging |
Het |
Pdzrn3 |
G |
A |
6: 101,149,275 (GRCm39) |
S351L |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,597,252 (GRCm39) |
I2804K |
possibly damaging |
Het |
Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
Resp18 |
A |
G |
1: 75,250,644 (GRCm39) |
V145A |
possibly damaging |
Het |
Rgl3 |
T |
C |
9: 21,892,908 (GRCm39) |
M259V |
probably benign |
Het |
Rhot2 |
A |
T |
17: 26,058,781 (GRCm39) |
S540T |
probably benign |
Het |
Ring1 |
T |
C |
17: 34,241,282 (GRCm39) |
Y278C |
possibly damaging |
Het |
Rpn2 |
A |
G |
2: 157,137,265 (GRCm39) |
Y216C |
probably damaging |
Het |
Scgb2b18 |
G |
A |
7: 32,873,255 (GRCm39) |
L5F |
unknown |
Het |
Slamf7 |
T |
C |
1: 171,466,838 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
T |
C |
19: 6,590,479 (GRCm39) |
N237S |
possibly damaging |
Het |
Spen |
A |
T |
4: 141,205,495 (GRCm39) |
V1044D |
unknown |
Het |
Sqor |
A |
T |
2: 122,651,261 (GRCm39) |
M175L |
probably benign |
Het |
Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
Tars3 |
T |
G |
7: 65,333,873 (GRCm39) |
F632V |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,545,191 (GRCm39) |
V1008A |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,015,039 (GRCm39) |
H554R |
probably benign |
Het |
Trank1 |
A |
T |
9: 111,195,744 (GRCm39) |
D1256V |
possibly damaging |
Het |
Trbv19 |
A |
G |
6: 41,155,794 (GRCm39) |
Y55C |
possibly damaging |
Het |
Ttc23l |
C |
T |
15: 10,551,555 (GRCm39) |
C57Y |
probably benign |
Het |
Uap1 |
A |
T |
1: 169,988,949 (GRCm39) |
C158S |
probably benign |
Het |
Zfp353-ps |
T |
A |
8: 42,535,647 (GRCm39) |
|
noncoding transcript |
Het |
Zfp629 |
T |
A |
7: 127,210,307 (GRCm39) |
I501F |
probably damaging |
Het |
Zfp820 |
T |
C |
17: 22,037,702 (GRCm39) |
Y542C |
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 |
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'- AGGACCCAACACTGTAGCAG -3'
(R):5'- TGGGAATAGCTGACTTGGCC -3'
Sequencing Primer
(F):5'- CAGAACCTGGCAAAGCATAAAG -3'
(R):5'- ACCTGTATACATGTGTGTACCTG -3'
|
Posted On |
2016-11-21 |