Incidental Mutation 'R8253:Afap1l1'
| ID |
640155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afap1l1
|
| Ensembl Gene |
ENSMUSG00000033032 |
| Gene Name |
actin filament associated protein 1-like 1 |
| Synonyms |
|
| MMRRC Submission |
067679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61874702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 493
(E493G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120472]
[ENSMUST00000154876]
|
| AlphaFold |
Q8BZI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120472
AA Change: E493G
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: E493G
| 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 |
probably benign
Transcript: ENSMUST00000154876
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1a1 |
A |
T |
4: 116,493,840 (GRCm39) |
D313E |
probably damaging |
Het |
| Ap1m1 |
T |
A |
8: 73,006,730 (GRCm39) |
V242E |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,024,159 (GRCm39) |
S670T |
possibly damaging |
Het |
| Atad2b |
C |
T |
12: 5,024,160 (GRCm39) |
S670L |
probably benign |
Het |
| Atp23 |
C |
T |
10: 126,704,543 (GRCm39) |
G197S |
probably benign |
Het |
| Avpr1b |
A |
T |
1: 131,537,154 (GRCm39) |
T313S |
probably benign |
Het |
| Cblc |
A |
G |
7: 19,520,157 (GRCm39) |
I362T |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,661,207 (GRCm39) |
S1106T |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,905,683 (GRCm39) |
M193V |
probably benign |
Het |
| Csde1 |
C |
A |
3: 102,946,037 (GRCm39) |
N10K |
probably damaging |
Het |
| Csnk2a2 |
T |
C |
8: 96,215,005 (GRCm39) |
Y24C |
|
Het |
| Cyb5r4 |
G |
T |
9: 86,941,108 (GRCm39) |
L420F |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dner |
C |
T |
1: 84,512,598 (GRCm39) |
G323E |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,773,792 (GRCm39) |
M1T |
probably null |
Het |
| Fam13c |
T |
C |
10: 70,389,033 (GRCm39) |
S520P |
probably damaging |
Het |
| Fhip1b |
T |
A |
7: 105,028,294 (GRCm39) |
H885L |
possibly damaging |
Het |
| Gabra2 |
A |
G |
5: 71,249,413 (GRCm39) |
I30T |
probably benign |
Het |
| Gm6793 |
T |
A |
8: 112,741,640 (GRCm39) |
M1L |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,061,556 (GRCm39) |
L76P |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,243,406 (GRCm39) |
I381T |
probably benign |
Het |
| Lyrm7 |
T |
C |
11: 54,741,227 (GRCm39) |
I36V |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,814,305 (GRCm39) |
I906V |
probably benign |
Het |
| Mup5 |
C |
T |
4: 61,752,811 (GRCm39) |
A71T |
probably benign |
Het |
| Ndufaf6 |
G |
A |
4: 11,059,086 (GRCm39) |
R248W |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,538 (GRCm39) |
I226L |
possibly damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Palm |
A |
T |
10: 79,643,511 (GRCm39) |
K80* |
probably null |
Het |
| Pcyox1 |
C |
T |
6: 86,366,044 (GRCm39) |
R390K |
probably benign |
Het |
| Pdx1 |
T |
C |
5: 147,207,459 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
T |
A |
16: 16,086,406 (GRCm39) |
V689D |
probably damaging |
Het |
| Prkar2a |
G |
T |
9: 108,617,638 (GRCm39) |
R232L |
probably damaging |
Het |
| Rasgrp4 |
C |
T |
7: 28,838,287 (GRCm39) |
T87M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,842,439 (GRCm39) |
Q486L |
possibly damaging |
Het |
| Shd |
T |
C |
17: 56,283,295 (GRCm39) |
V309A |
|
Het |
| Skint7 |
C |
T |
4: 111,834,675 (GRCm39) |
Q20* |
probably null |
Het |
| Slc35g1 |
C |
A |
19: 38,391,237 (GRCm39) |
T173K |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,433,013 (GRCm39) |
F1073L |
probably benign |
Het |
| Snx18 |
T |
A |
13: 113,731,317 (GRCm39) |
D559V |
probably damaging |
Het |
| Tbr1 |
G |
T |
2: 61,635,585 (GRCm39) |
Q178H |
probably benign |
Het |
| Tmem145 |
T |
G |
7: 25,006,939 (GRCm39) |
Y114D |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,850,323 (GRCm39) |
M377V |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,850,770 (GRCm39) |
Y2242* |
probably null |
Het |
| Xdh |
T |
G |
17: 74,225,377 (GRCm39) |
Q475P |
possibly damaging |
Het |
| Zbtb42 |
T |
G |
12: 112,646,746 (GRCm39) |
L307R |
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 |
|
R5947:Afap1l1
|
UTSW |
18 |
61,876,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- AGCAAACCCAGGCTCTAGAG -3'
(R):5'- ATGTGCTGGTAAACCAAGGCTG -3'
Sequencing Primer
(F):5'- ATAGGACCTTTCAGTCTAGGCAC -3'
(R):5'- CTGGAAGGAACGGTGGTGTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation