Incidental Mutation 'R6009:Afap1'
ID |
479639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Afap1
|
Ensembl Gene |
ENSMUSG00000029094 |
Gene Name |
actin filament associated protein 1 |
Synonyms |
9630044L16Rik, 2600003E23Rik |
MMRRC Submission |
044186-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.211)
|
Stock # |
R6009 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
36050713-36161267 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36154904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 683
(S683P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064571]
[ENSMUST00000141824]
|
AlphaFold |
Q80YS6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064571
AA Change: S683P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067779 Gene: ENSMUSG00000029094 AA Change: S683P
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 benign
Transcript: ENSMUST00000141824
|
SMART Domains |
Protein: ENSMUSP00000119364 Gene: ENSMUSG00000029094
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 |
|
Meta Mutation Damage Score |
0.1365 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
Validation Efficiency |
100% (53/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,700,454 (GRCm39) |
|
probably benign |
Het |
Chid1 |
T |
A |
7: 141,109,493 (GRCm39) |
D131V |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
Crlf1 |
A |
C |
8: 70,956,129 (GRCm39) |
K403T |
probably damaging |
Het |
Ctdspl2 |
T |
G |
2: 121,819,319 (GRCm39) |
N201K |
probably benign |
Het |
Cyb561a3 |
G |
A |
19: 10,564,172 (GRCm39) |
V171I |
possibly damaging |
Het |
Dazap1 |
T |
C |
10: 80,121,138 (GRCm39) |
|
probably benign |
Het |
Dbf4 |
G |
T |
5: 8,453,718 (GRCm39) |
Q235K |
probably damaging |
Het |
Dgka |
C |
T |
10: 128,559,548 (GRCm39) |
G471D |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,630,458 (GRCm39) |
F100Y |
possibly damaging |
Het |
Flii |
A |
T |
11: 60,611,583 (GRCm39) |
L376* |
probably null |
Het |
Fnip1 |
G |
T |
11: 54,393,097 (GRCm39) |
G487V |
probably damaging |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,735,321 (GRCm39) |
A1523S |
probably damaging |
Het |
Gstm4 |
A |
G |
3: 107,950,659 (GRCm39) |
V114A |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,246,602 (GRCm39) |
F1569S |
possibly damaging |
Het |
Gtf3c5 |
A |
T |
2: 28,461,177 (GRCm39) |
D312E |
probably benign |
Het |
Gtpbp1 |
G |
A |
15: 79,596,297 (GRCm39) |
V149M |
probably damaging |
Het |
Hoxa7 |
C |
T |
6: 52,194,367 (GRCm39) |
V7M |
probably damaging |
Het |
Il17f |
C |
T |
1: 20,849,510 (GRCm39) |
|
probably null |
Het |
Ints9 |
T |
C |
14: 65,245,531 (GRCm39) |
V263A |
probably benign |
Het |
Kansl1l |
C |
T |
1: 66,774,759 (GRCm39) |
C689Y |
probably benign |
Het |
Kctd7 |
G |
A |
5: 130,174,039 (GRCm39) |
G39E |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,453,540 (GRCm39) |
D282V |
probably benign |
Het |
Lemd1 |
G |
T |
1: 132,155,990 (GRCm39) |
E11* |
probably null |
Het |
Maml2 |
A |
G |
9: 13,532,294 (GRCm39) |
T503A |
probably benign |
Het |
Mief2 |
A |
G |
11: 60,622,485 (GRCm39) |
T352A |
probably benign |
Het |
Msantd1 |
C |
A |
5: 35,075,049 (GRCm39) |
T37K |
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,243,462 (GRCm39) |
E94G |
probably damaging |
Het |
Naaa |
A |
T |
5: 92,407,440 (GRCm39) |
L353Q |
probably benign |
Het |
Nek5 |
T |
C |
8: 22,610,838 (GRCm39) |
E55G |
probably benign |
Het |
Npat |
T |
C |
9: 53,474,749 (GRCm39) |
M847T |
probably damaging |
Het |
Nus1 |
G |
A |
10: 52,309,539 (GRCm39) |
V268I |
probably benign |
Het |
Or51r1 |
A |
G |
7: 102,227,801 (GRCm39) |
N33S |
possibly damaging |
Het |
Parn |
C |
T |
16: 13,485,428 (GRCm39) |
D23N |
probably damaging |
Het |
Pdgfa |
T |
C |
5: 138,964,954 (GRCm39) |
E176G |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,735,405 (GRCm39) |
F249I |
probably damaging |
Het |
Plscr5 |
C |
T |
9: 92,086,488 (GRCm39) |
Q153* |
probably null |
Het |
Polr2b |
T |
C |
5: 77,468,099 (GRCm39) |
I133T |
probably benign |
Het |
Polr3c |
A |
G |
3: 96,620,930 (GRCm39) |
S463P |
probably damaging |
Het |
Pprc1 |
A |
T |
19: 46,060,171 (GRCm39) |
I1530L |
probably damaging |
Het |
Prex1 |
C |
T |
2: 166,423,904 (GRCm39) |
S996N |
probably damaging |
Het |
Rnf169 |
C |
A |
7: 99,576,330 (GRCm39) |
R291S |
possibly damaging |
Het |
Setd5 |
A |
G |
6: 113,087,480 (GRCm39) |
K127R |
probably damaging |
Het |
Slc25a26 |
G |
T |
6: 94,487,807 (GRCm39) |
V89L |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 61,877,034 (GRCm39) |
T16A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,747,951 (GRCm39) |
H430Q |
probably damaging |
Het |
Ttll7 |
A |
T |
3: 146,640,290 (GRCm39) |
D503V |
probably damaging |
Het |
Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
T |
C |
9: 121,591,937 (GRCm39) |
S86P |
possibly damaging |
Het |
Zfp345 |
A |
T |
2: 150,314,437 (GRCm39) |
C367S |
probably damaging |
Het |
Zfp964 |
T |
A |
8: 70,116,106 (GRCm39) |
H235Q |
possibly damaging |
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 |
R5251:Afap1
|
UTSW |
5 |
36,108,236 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GTCTTCCATCCCTCTGAAAGTG -3'
(R):5'- ACTTGCTCAGTACCTCTGGC -3'
Sequencing Primer
(F):5'- TCTGAAAGTGCCCCTGGGATC -3'
(R):5'- TGAGTGCCAAGTGCAGT -3'
|
Posted On |
2017-06-26 |