Incidental Mutation 'R5794:Aftph'
ID |
447128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aftph
|
Ensembl Gene |
ENSMUSG00000049659 |
Gene Name |
aftiphilin |
Synonyms |
9130023F12Rik |
MMRRC Submission |
043385-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.835)
|
Stock # |
R5794 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
20635084-20691589 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 20676955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035350]
[ENSMUST00000146722]
[ENSMUST00000177014]
[ENSMUST00000177543]
|
AlphaFold |
Q80WT5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035350
AA Change: E218G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000036778 Gene: ENSMUSG00000049659 AA Change: E218G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
693 |
765 |
1.1e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120008
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146722
AA Change: E218G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121612 Gene: ENSMUSG00000049659 AA Change: E218G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
694 |
765 |
1.2e-23 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176782
|
SMART Domains |
Protein: ENSMUSP00000134791 Gene: ENSMUSG00000049659
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177014
AA Change: E63G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000135450 Gene: ENSMUSG00000049659 AA Change: E63G
Domain | Start | End | E-Value | Type |
low complexity region
|
391 |
405 |
N/A |
INTRINSIC |
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
538 |
610 |
6.8e-37 |
PFAM |
low complexity region
|
664 |
677 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177543
AA Change: E218G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000134991 Gene: ENSMUSG00000049659 AA Change: E218G
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
45 |
N/A |
INTRINSIC |
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
Pfam:Clathrin_bdg
|
693 |
765 |
8.7e-37 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
T |
C |
3: 126,723,669 (GRCm39) |
N923S |
probably benign |
Het |
Ano6 |
A |
T |
15: 95,792,405 (GRCm39) |
T76S |
probably benign |
Het |
Carmil1 |
G |
T |
13: 24,276,533 (GRCm39) |
N204K |
probably damaging |
Het |
Cep126 |
T |
G |
9: 8,103,440 (GRCm39) |
N190T |
possibly damaging |
Het |
Clasrp |
A |
T |
7: 19,325,034 (GRCm39) |
D198E |
probably damaging |
Het |
Cma1 |
T |
C |
14: 56,181,977 (GRCm39) |
T18A |
probably benign |
Het |
Ece1 |
A |
G |
4: 137,683,844 (GRCm39) |
I565M |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,811,323 (GRCm39) |
F1135L |
probably damaging |
Het |
Fbxw20 |
T |
C |
9: 109,052,358 (GRCm39) |
N325S |
probably damaging |
Het |
Fbxw20 |
A |
T |
9: 109,062,668 (GRCm39) |
C53S |
possibly damaging |
Het |
Gnb2 |
T |
C |
5: 137,526,961 (GRCm39) |
D203G |
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Hoxd9 |
T |
A |
2: 74,529,617 (GRCm39) |
F291Y |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,928,332 (GRCm39) |
S1004G |
probably benign |
Het |
Irgm1 |
T |
C |
11: 48,757,064 (GRCm39) |
Y249C |
probably damaging |
Het |
Kcnh3 |
A |
C |
15: 99,130,855 (GRCm39) |
I491L |
probably benign |
Het |
Kctd10 |
G |
A |
5: 114,505,398 (GRCm39) |
R199W |
probably damaging |
Het |
Klk1b4 |
A |
T |
7: 43,859,069 (GRCm39) |
N29I |
probably damaging |
Het |
Klrc1 |
C |
T |
6: 129,652,317 (GRCm39) |
R188Q |
probably damaging |
Het |
Krt32 |
C |
A |
11: 99,975,812 (GRCm39) |
C275F |
probably damaging |
Het |
Krt73 |
T |
A |
15: 101,703,264 (GRCm39) |
T449S |
probably benign |
Het |
Napepld |
T |
A |
5: 21,888,429 (GRCm39) |
S7C |
possibly damaging |
Het |
Nfia |
G |
T |
4: 97,671,838 (GRCm39) |
V183L |
possibly damaging |
Het |
Or5g27 |
T |
C |
2: 85,409,685 (GRCm39) |
V34A |
probably benign |
Het |
Or6c3 |
A |
C |
10: 129,309,295 (GRCm39) |
I245L |
possibly damaging |
Het |
Psma3 |
A |
G |
12: 71,037,271 (GRCm39) |
T111A |
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,362,318 (GRCm39) |
D125E |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,392,914 (GRCm39) |
D523E |
probably benign |
Het |
Rttn |
G |
T |
18: 89,013,693 (GRCm39) |
R454L |
probably benign |
Het |
Serpine2 |
T |
C |
1: 79,799,156 (GRCm39) |
N33D |
probably benign |
Het |
Six4 |
A |
T |
12: 73,159,124 (GRCm39) |
S271T |
possibly damaging |
Het |
Smoc2 |
T |
A |
17: 14,589,310 (GRCm39) |
C260S |
possibly damaging |
Het |
Snai2 |
A |
T |
16: 14,524,590 (GRCm39) |
Y32F |
probably benign |
Het |
Tapt1 |
C |
T |
5: 44,334,476 (GRCm39) |
G505D |
probably benign |
Het |
Thap12 |
T |
A |
7: 98,365,600 (GRCm39) |
D589E |
probably benign |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r116 |
T |
C |
17: 23,604,942 (GRCm39) |
I85T |
probably damaging |
Het |
Zfp592 |
G |
T |
7: 80,674,781 (GRCm39) |
V582L |
probably benign |
Het |
Zfp827 |
T |
C |
8: 79,797,071 (GRCm39) |
W386R |
probably damaging |
Het |
|
Other mutations in Aftph |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00952:Aftph
|
APN |
11 |
20,677,483 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01485:Aftph
|
APN |
11 |
20,642,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01622:Aftph
|
APN |
11 |
20,659,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01623:Aftph
|
APN |
11 |
20,659,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01739:Aftph
|
APN |
11 |
20,676,994 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01777:Aftph
|
APN |
11 |
20,676,554 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL01825:Aftph
|
APN |
11 |
20,676,569 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02804:Aftph
|
APN |
11 |
20,676,107 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03003:Aftph
|
APN |
11 |
20,676,982 (GRCm39) |
nonsense |
probably null |
|
IGL03111:Aftph
|
APN |
11 |
20,676,040 (GRCm39) |
missense |
probably benign |
0.44 |
R1103:Aftph
|
UTSW |
11 |
20,676,547 (GRCm39) |
missense |
probably benign |
0.00 |
R1672:Aftph
|
UTSW |
11 |
20,676,762 (GRCm39) |
missense |
probably benign |
0.10 |
R2060:Aftph
|
UTSW |
11 |
20,642,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Aftph
|
UTSW |
11 |
20,648,318 (GRCm39) |
nonsense |
probably null |
|
R2241:Aftph
|
UTSW |
11 |
20,676,328 (GRCm39) |
missense |
possibly damaging |
0.90 |
R2513:Aftph
|
UTSW |
11 |
20,658,676 (GRCm39) |
splice site |
probably null |
|
R2518:Aftph
|
UTSW |
11 |
20,675,797 (GRCm39) |
missense |
probably damaging |
0.98 |
R4751:Aftph
|
UTSW |
11 |
20,677,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4844:Aftph
|
UTSW |
11 |
20,658,667 (GRCm39) |
splice site |
probably benign |
|
R4879:Aftph
|
UTSW |
11 |
20,648,311 (GRCm39) |
critical splice donor site |
probably null |
|
R4895:Aftph
|
UTSW |
11 |
20,646,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R5012:Aftph
|
UTSW |
11 |
20,648,264 (GRCm39) |
intron |
probably benign |
|
R5082:Aftph
|
UTSW |
11 |
20,677,100 (GRCm39) |
missense |
probably damaging |
0.98 |
R5093:Aftph
|
UTSW |
11 |
20,659,619 (GRCm39) |
critical splice donor site |
probably null |
|
R5160:Aftph
|
UTSW |
11 |
20,662,197 (GRCm39) |
missense |
probably benign |
0.03 |
R5288:Aftph
|
UTSW |
11 |
20,676,994 (GRCm39) |
missense |
probably damaging |
0.98 |
R5338:Aftph
|
UTSW |
11 |
20,677,203 (GRCm39) |
missense |
probably benign |
0.18 |
R6747:Aftph
|
UTSW |
11 |
20,676,144 (GRCm39) |
splice site |
probably null |
|
R6876:Aftph
|
UTSW |
11 |
20,659,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Aftph
|
UTSW |
11 |
20,642,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7284:Aftph
|
UTSW |
11 |
20,676,812 (GRCm39) |
missense |
probably benign |
0.00 |
R7371:Aftph
|
UTSW |
11 |
20,676,836 (GRCm39) |
missense |
probably benign |
|
R7974:Aftph
|
UTSW |
11 |
20,648,233 (GRCm39) |
makesense |
probably null |
|
R8290:Aftph
|
UTSW |
11 |
20,675,712 (GRCm39) |
missense |
probably benign |
0.01 |
X0028:Aftph
|
UTSW |
11 |
20,676,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACGCAGACCTGATGTTCTC -3'
(R):5'- GTTCACCAAACCAAGCAGTTAG -3'
Sequencing Primer
(F):5'- AGTGTTCCCCGTATCCTCAAAG -3'
(R):5'- CCAAGCAGTTAGAGAGCTGC -3'
|
Posted On |
2016-12-15 |