Incidental Mutation 'R6876:Aftph'
| ID |
536425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aftph
|
| Ensembl Gene |
ENSMUSG00000049659 |
| Gene Name |
aftiphilin |
| Synonyms |
9130023F12Rik |
| MMRRC Submission |
044972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.867)
|
| Stock # |
R6876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
20635084-20691589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20659744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 693
(E693G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035350]
[ENSMUST00000146722]
[ENSMUST00000177014]
[ENSMUST00000177543]
|
| AlphaFold |
Q80WT5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035350
AA Change: E693G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036778
Gene: ENSMUSG00000049659
AA Change: E693G
| 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 |
probably damaging
Transcript: ENSMUST00000146722
AA Change: E693G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121612
Gene: ENSMUSG00000049659
AA Change: E693G
| 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 |
probably damaging
Transcript: ENSMUST00000177014
AA Change: E538G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135450
Gene: ENSMUSG00000049659
AA Change: E538G
| 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: E693G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134991
Gene: ENSMUSG00000049659
AA Change: E693G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
C |
5: 77,044,288 (GRCm39) |
T201A |
probably damaging |
Het |
| Abca12 |
T |
A |
1: 71,302,667 (GRCm39) |
D2184V |
probably damaging |
Het |
| Abcf1 |
C |
T |
17: 36,270,136 (GRCm39) |
D641N |
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,303,273 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
| Arv1 |
A |
G |
8: 125,457,651 (GRCm39) |
K185R |
probably damaging |
Het |
| Ces4a |
T |
A |
8: 105,871,624 (GRCm39) |
V258D |
possibly damaging |
Het |
| Col6a5 |
T |
C |
9: 105,814,506 (GRCm39) |
D502G |
unknown |
Het |
| Diaph1 |
A |
T |
18: 38,029,426 (GRCm39) |
H335Q |
unknown |
Het |
| Dtna |
G |
A |
18: 23,744,167 (GRCm39) |
V404I |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 101,861,319 (GRCm39) |
D615G |
probably damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,855 (GRCm39) |
I25N |
probably damaging |
Het |
| Hao1 |
A |
G |
2: 134,343,069 (GRCm39) |
V274A |
probably benign |
Het |
| Hirip3 |
T |
C |
7: 126,463,321 (GRCm39) |
S426P |
probably damaging |
Het |
| Igkv4-69 |
T |
C |
6: 69,260,818 (GRCm39) |
D103G |
probably damaging |
Het |
| Kdm8 |
T |
C |
7: 125,051,830 (GRCm39) |
V141A |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,498,261 (GRCm39) |
A553S |
probably benign |
Het |
| Mpl |
T |
A |
4: 118,314,317 (GRCm39) |
Y60F |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
C |
A |
9: 75,067,772 (GRCm39) |
R609S |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,841,026 (GRCm39) |
H969L |
probably benign |
Het |
| Or1n2 |
T |
A |
2: 36,797,834 (GRCm39) |
I292N |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,098 (GRCm39) |
Q259E |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,068 (GRCm39) |
L130P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
A |
7: 30,205,925 (GRCm39) |
W207R |
probably damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,910 (GRCm39) |
D20G |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,596,087 (GRCm39) |
K457E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,859,791 (GRCm39) |
E551G |
possibly damaging |
Het |
| Soat2 |
T |
C |
15: 102,069,049 (GRCm39) |
F358S |
probably damaging |
Het |
| Tes3-ps |
A |
G |
13: 49,647,195 (GRCm39) |
K24E |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,400,497 (GRCm39) |
F335L |
possibly damaging |
Het |
| Unc45b |
T |
C |
11: 82,813,738 (GRCm39) |
Y382H |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,525,450 (GRCm39) |
H369Q |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,772,518 (GRCm39) |
I265V |
probably benign |
Het |
| Zfp54 |
A |
T |
17: 21,654,239 (GRCm39) |
K244N |
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 |
|
R5794:Aftph
|
UTSW |
11 |
20,676,955 (GRCm39) |
splice site |
probably null |
|
|
R6747:Aftph
|
UTSW |
11 |
20,676,144 (GRCm39) |
splice site |
probably null |
|
|
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'- GCTAGATAATCACAGCGTAAACAGG -3'
(R):5'- AGGCTAGTTCCTGGACTGTATC -3'
Sequencing Primer
(F):5'- TAATCACAGCGTAAACAGGAAAATAG -3'
(R):5'- GTGCTAGCTCTTGATTGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation