Incidental Mutation 'R9521:Afap1l1'
| ID |
718917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afap1l1
|
| Ensembl Gene |
ENSMUSG00000033032 |
| Gene Name |
actin filament associated protein 1-like 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R9521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61863333-61919733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61879863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 336
(A336T)
|
| 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: A336T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113286
Gene: ENSMUSG00000033032
AA Change: A336T
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,608,778 (GRCm39) |
|
probably null |
Het |
| A030005K14Rik |
C |
A |
1: 83,036,980 (GRCm39) |
G17V |
unknown |
Het |
| Akap8 |
C |
T |
17: 32,530,036 (GRCm39) |
R395H |
possibly damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,517,420 (GRCm39) |
A467V |
possibly damaging |
Het |
| Ano9 |
A |
T |
7: 140,682,227 (GRCm39) |
S683T |
probably benign |
Het |
| Aox3 |
C |
A |
1: 58,164,222 (GRCm39) |
A164E |
probably benign |
Het |
| Apc |
T |
C |
18: 34,445,738 (GRCm39) |
I878T |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atg9b |
T |
C |
5: 24,593,107 (GRCm39) |
N432S |
probably benign |
Het |
| Atp1b3 |
A |
G |
9: 96,227,911 (GRCm39) |
F49L |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,609,138 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,916,283 (GRCm39) |
L828Q |
probably null |
Het |
| Chd3 |
C |
T |
11: 69,249,133 (GRCm39) |
R748Q |
probably benign |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,581,028 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
T |
5: 113,752,480 (GRCm39) |
V174I |
probably benign |
Het |
| Cyp2d22 |
A |
T |
15: 82,256,688 (GRCm39) |
V362D |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,501,763 (GRCm39) |
K1810R |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,159,216 (GRCm39) |
V661E |
possibly damaging |
Het |
| Ercc2 |
G |
A |
7: 19,125,899 (GRCm39) |
R518Q |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,841,471 (GRCm39) |
L1591P |
probably damaging |
Het |
| Fam186b |
G |
T |
15: 99,178,419 (GRCm39) |
D302E |
probably benign |
Het |
| Fap |
T |
C |
2: 62,372,500 (GRCm39) |
D326G |
probably benign |
Het |
| Gm42669 |
T |
A |
5: 107,655,892 (GRCm39) |
D135E |
|
Het |
| Keap1 |
A |
T |
9: 21,143,136 (GRCm39) |
V463E |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,979 (GRCm39) |
S2888P |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,722,118 (GRCm39) |
D403G |
probably damaging |
Het |
| Mios |
C |
T |
6: 8,233,171 (GRCm39) |
T773I |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,835,845 (GRCm39) |
D79G |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
| Or8k35 |
C |
A |
2: 86,424,771 (GRCm39) |
V134F |
|
Het |
| Orc6 |
T |
C |
8: 86,026,615 (GRCm39) |
V20A |
possibly damaging |
Het |
| Peli2 |
A |
G |
14: 48,490,052 (GRCm39) |
K175E |
probably benign |
Het |
| Plec |
C |
G |
15: 76,062,924 (GRCm39) |
R2382P |
possibly damaging |
Het |
| Ppp1r12b |
T |
A |
1: 134,705,063 (GRCm39) |
D875V |
probably damaging |
Het |
| Pramel6 |
T |
A |
2: 87,340,629 (GRCm39) |
C320* |
probably null |
Het |
| Qrich2 |
A |
T |
11: 116,339,208 (GRCm39) |
M26K |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,624,291 (GRCm39) |
I1006V |
probably benign |
Het |
| Rasgrp3 |
T |
A |
17: 75,821,158 (GRCm39) |
L455Q |
probably null |
Het |
| Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
| Senp6 |
C |
T |
9: 79,974,687 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,992,144 (GRCm39) |
Y700C |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,915,246 (GRCm39) |
|
probably null |
Het |
| Slc12a7 |
G |
A |
13: 73,947,087 (GRCm39) |
V592I |
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,877,906 (GRCm39) |
V396A |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,388 (GRCm39) |
T236A |
probably benign |
Het |
| Tob1 |
AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC |
AGCAGCAGCAGCAGCAGCAGCC |
11: 94,105,205 (GRCm39) |
|
probably benign |
Het |
| Ttc21a |
C |
A |
9: 119,787,181 (GRCm39) |
D729E |
probably damaging |
Het |
| Ubtd2 |
T |
C |
11: 32,449,432 (GRCm39) |
I93T |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,808,586 (GRCm39) |
D224G |
probably benign |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,626 (GRCm39) |
E413G |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,509,033 (GRCm39) |
L437Q |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,227 (GRCm39) |
V227A |
possibly 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 |
|
R8253:Afap1l1
|
UTSW |
18 |
61,874,702 (GRCm39) |
missense |
probably benign |
0.43 |
|
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 |
|
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'- TTGACTAGCAAGCACCTGCC -3'
(R):5'- GTTATGCGGACGCCTAGTTC -3'
Sequencing Primer
(F):5'- TGCCACACTGCTGCTAAG -3'
(R):5'- GACGCCTAGTTCAGCCCTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation