Incidental Mutation 'R5251:Afap1'
| ID |
399029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afap1
|
| Ensembl Gene |
ENSMUSG00000029094 |
| Gene Name |
actin filament associated protein 1 |
| Synonyms |
9630044L16Rik, 2600003E23Rik |
| MMRRC Submission |
042822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
R5251 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36050713-36161267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36108236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 194
(E194V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064571]
[ENSMUST00000141824]
|
| AlphaFold |
Q80YS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064571
AA Change: E194V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: E194V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Blast:PH
|
21 |
110 |
9e-9 |
BLAST |
|
low complexity region
|
112 |
130 |
N/A |
INTRINSIC |
|
PH
|
153 |
250 |
2.26e-12 |
SMART |
|
low complexity region
|
314 |
335 |
N/A |
INTRINSIC |
|
PH
|
349 |
444 |
3.48e-13 |
SMART |
|
coiled coil region
|
557 |
649 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141824
AA Change: E194V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: E194V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
20 |
N/A |
INTRINSIC |
|
Blast:PH
|
21 |
110 |
7e-9 |
BLAST |
|
low complexity region
|
112 |
130 |
N/A |
INTRINSIC |
|
PH
|
153 |
250 |
2.26e-12 |
SMART |
|
low complexity region
|
314 |
335 |
N/A |
INTRINSIC |
|
PH
|
349 |
444 |
3.48e-13 |
SMART |
|
coiled coil region
|
557 |
627 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit inability to nurse pups due to failed secretory activation, reduced milk lipid synthesis and precocious mammary gland involution. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd16 |
T |
A |
2: 11,783,552 (GRCm39) |
D51E |
probably damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,249,815 (GRCm39) |
T189A |
possibly damaging |
Het |
| Camk4 |
A |
G |
18: 33,317,932 (GRCm39) |
D363G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,248,341 (GRCm39) |
I199T |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,858,118 (GRCm39) |
C1021Y |
probably damaging |
Het |
| Cdc34 |
C |
T |
10: 79,521,090 (GRCm39) |
S129L |
probably damaging |
Het |
| Cenph |
T |
A |
13: 100,898,348 (GRCm39) |
N185I |
possibly damaging |
Het |
| Colq |
A |
G |
14: 31,261,776 (GRCm39) |
|
probably null |
Het |
| Dph2 |
A |
T |
4: 117,747,543 (GRCm39) |
D280E |
probably damaging |
Het |
| Exosc5 |
A |
G |
7: 25,367,180 (GRCm39) |
Y224C |
probably damaging |
Het |
| Fgfr3 |
C |
T |
5: 33,892,900 (GRCm39) |
|
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,976,959 (GRCm39) |
D146E |
probably benign |
Het |
| Igkv13-84 |
A |
T |
6: 68,916,772 (GRCm39) |
Q23L |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,343,760 (GRCm39) |
V2154A |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,527,415 (GRCm39) |
E225G |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,571,375 (GRCm39) |
S110P |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,689,114 (GRCm39) |
F388L |
probably damaging |
Het |
| Nme8 |
T |
C |
13: 19,844,795 (GRCm39) |
N98S |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,173,417 (GRCm39) |
|
probably null |
Het |
| Prl7d1 |
T |
C |
13: 27,893,227 (GRCm39) |
N228S |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,530 (GRCm39) |
K180E |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,137,479 (GRCm39) |
D549N |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,329,357 (GRCm39) |
V886A |
probably benign |
Het |
| Sh2d1b2 |
A |
T |
1: 170,077,642 (GRCm39) |
E81D |
probably benign |
Het |
| Tbx6 |
A |
T |
7: 126,382,516 (GRCm39) |
N254I |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,377,860 (GRCm39) |
V188A |
possibly damaging |
Het |
| Trpc3 |
A |
T |
3: 36,725,103 (GRCm39) |
L291Q |
probably damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,569,161 (GRCm39) |
T641N |
probably benign |
Het |
|
| Other mutations in Afap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Afap1
|
APN |
5 |
36,126,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01730:Afap1
|
APN |
5 |
36,119,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01798:Afap1
|
APN |
5 |
36,093,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02188:Afap1
|
APN |
5 |
36,093,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03027:Afap1
|
APN |
5 |
36,119,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0124:Afap1
|
UTSW |
5 |
36,102,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Afap1
|
UTSW |
5 |
36,108,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0532:Afap1
|
UTSW |
5 |
36,125,944 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0891:Afap1
|
UTSW |
5 |
36,119,196 (GRCm39) |
splice site |
probably null |
|
|
R1370:Afap1
|
UTSW |
5 |
36,092,944 (GRCm39) |
missense |
unknown |
|
|
R1378:Afap1
|
UTSW |
5 |
36,126,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1443:Afap1
|
UTSW |
5 |
36,126,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Afap1
|
UTSW |
5 |
36,119,081 (GRCm39) |
splice site |
probably benign |
|
|
R1536:Afap1
|
UTSW |
5 |
36,131,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Afap1
|
UTSW |
5 |
36,141,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Afap1
|
UTSW |
5 |
36,119,126 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5918:Afap1
|
UTSW |
5 |
36,131,869 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5936:Afap1
|
UTSW |
5 |
36,131,740 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6008:Afap1
|
UTSW |
5 |
36,154,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6009:Afap1
|
UTSW |
5 |
36,154,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:Afap1
|
UTSW |
5 |
36,092,953 (GRCm39) |
missense |
unknown |
|
|
R7058:Afap1
|
UTSW |
5 |
36,119,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7320:Afap1
|
UTSW |
5 |
36,105,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7799:Afap1
|
UTSW |
5 |
36,131,742 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7946:Afap1
|
UTSW |
5 |
36,141,396 (GRCm39) |
splice site |
probably null |
|
|
R7946:Afap1
|
UTSW |
5 |
36,092,995 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8358:Afap1
|
UTSW |
5 |
36,131,830 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8446:Afap1
|
UTSW |
5 |
36,144,645 (GRCm39) |
missense |
|
|
|
R8785:Afap1
|
UTSW |
5 |
36,108,304 (GRCm39) |
nonsense |
probably null |
|
|
R9013:Afap1
|
UTSW |
5 |
36,133,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9225:Afap1
|
UTSW |
5 |
36,133,968 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9711:Afap1
|
UTSW |
5 |
36,141,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCGACTTAGCATACACCTG -3'
(R):5'- GTGTCTCAGAGTCATGTCAGATG -3'
Sequencing Primer
(F):5'- TAGGCAGCAGACGGTGTC -3'
(R):5'- AGAGTCATGTCAGATGTCCTACC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation