Incidental Mutation 'R2241:Aftph'
ID |
240670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aftph
|
Ensembl Gene |
ENSMUSG00000049659 |
Gene Name |
aftiphilin |
Synonyms |
9130023F12Rik |
MMRRC Submission |
040241-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.835)
|
Stock # |
R2241 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
20635084-20691589 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20676328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 427
(D427G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035350]
[ENSMUST00000146722]
[ENSMUST00000177014]
[ENSMUST00000177543]
|
AlphaFold |
Q80WT5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035350
AA Change: D427G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000036778 Gene: ENSMUSG00000049659 AA Change: D427G
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 |
possibly damaging
Transcript: ENSMUST00000146722
AA Change: D427G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121612 Gene: ENSMUSG00000049659 AA Change: D427G
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 benign
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 |
possibly damaging
Transcript: ENSMUST00000177014
AA Change: D272G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000135450 Gene: ENSMUSG00000049659 AA Change: D272G
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 |
possibly damaging
Transcript: ENSMUST00000177543
AA Change: D427G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134991 Gene: ENSMUSG00000049659 AA Change: D427G
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
G |
T |
15: 64,571,230 (GRCm39) |
L1138I |
possibly damaging |
Het |
Cep350 |
C |
T |
1: 155,834,302 (GRCm39) |
|
probably null |
Het |
Clca4b |
A |
T |
3: 144,616,987 (GRCm39) |
S888T |
probably benign |
Het |
Cyb5b |
A |
G |
8: 107,897,045 (GRCm39) |
D105G |
probably benign |
Het |
Ddx20 |
A |
C |
3: 105,590,521 (GRCm39) |
Y258* |
probably null |
Het |
Farp2 |
C |
T |
1: 93,507,625 (GRCm39) |
T441I |
probably benign |
Het |
Fzd6 |
G |
T |
15: 38,894,931 (GRCm39) |
A366S |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,511,474 (GRCm39) |
V175A |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Itga4 |
T |
A |
2: 79,131,357 (GRCm39) |
I575N |
probably damaging |
Het |
Kcnj14 |
C |
T |
7: 45,469,325 (GRCm39) |
R60H |
probably benign |
Het |
Lrch3 |
A |
G |
16: 32,816,211 (GRCm39) |
T151A |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mterf2 |
T |
C |
10: 84,956,180 (GRCm39) |
N148S |
possibly damaging |
Het |
Nae1 |
A |
C |
8: 105,246,420 (GRCm39) |
D268E |
probably benign |
Het |
Or5p5 |
T |
C |
7: 107,414,040 (GRCm39) |
V83A |
possibly damaging |
Het |
Or6c211 |
G |
A |
10: 129,505,764 (GRCm39) |
T208I |
probably damaging |
Het |
Or8b48 |
A |
G |
9: 38,493,101 (GRCm39) |
H176R |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,620,928 (GRCm39) |
L916P |
probably damaging |
Het |
Prune2 |
T |
A |
19: 17,100,456 (GRCm39) |
Y1987N |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,631,737 (GRCm39) |
L2096P |
probably damaging |
Het |
Serpina3m |
G |
A |
12: 104,355,708 (GRCm39) |
S125N |
probably benign |
Het |
Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
Vmn2r102 |
T |
C |
17: 19,897,003 (GRCm39) |
Y117H |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,795,468 (GRCm39) |
N2091K |
possibly damaging |
Het |
Yme1l1 |
C |
T |
2: 23,086,912 (GRCm39) |
R673* |
probably null |
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 |
|
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 |
R5794:Aftph
|
UTSW |
11 |
20,676,955 (GRCm39) |
splice site |
probably null |
|
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'- AGTCTGTCTTAGGTCTGACTCAG -3'
(R):5'- AGTGTGCTGACTTATCCATGG -3'
Sequencing Primer
(F):5'- CTGTCTTAGGTCTGACTCAGTAAATC -3'
(R):5'- TGCTGACTTATCCATGGATTCTG -3'
|
Posted On |
2014-10-15 |