Incidental Mutation 'IGL01397:Afap1'
| ID |
79508 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Afap1
|
| Ensembl Gene |
ENSMUSG00000029094 |
| Gene Name |
actin filament associated protein 1 |
| Synonyms |
9630044L16Rik, 2600003E23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.211)
|
| Stock # |
IGL01397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36050713-36161267 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36126052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 349
(V349E)
|
| 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: V349E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: V349E
| 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: V349E
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: V349E
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
C |
2: 127,876,811 (GRCm39) |
T436P |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,229,796 (GRCm39) |
V1302I |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,862,321 (GRCm39) |
W58R |
probably damaging |
Het |
| Brpf3 |
A |
T |
17: 29,036,606 (GRCm39) |
K670N |
probably benign |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,517 (GRCm39) |
E124G |
probably damaging |
Het |
| Crybb3 |
T |
C |
5: 113,227,701 (GRCm39) |
E40G |
probably damaging |
Het |
| Dennd2d |
G |
T |
3: 106,394,365 (GRCm39) |
|
probably null |
Het |
| Dhx34 |
A |
G |
7: 15,944,468 (GRCm39) |
L582P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,296,825 (GRCm39) |
K5738R |
probably damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,498,425 (GRCm39) |
L328Q |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,015,897 (GRCm39) |
K357E |
probably benign |
Het |
| F8 |
A |
G |
X: 74,423,145 (GRCm39) |
S25P |
probably benign |
Het |
| Fgd2 |
A |
G |
17: 29,586,949 (GRCm39) |
E293G |
probably damaging |
Het |
| Foxi1 |
T |
A |
11: 34,157,599 (GRCm39) |
Q142L |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,350,991 (GRCm39) |
E316G |
probably benign |
Het |
| Glb1l3 |
C |
T |
9: 26,736,491 (GRCm39) |
D524N |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,941,152 (GRCm39) |
V1366D |
possibly damaging |
Het |
| Idh1 |
T |
C |
1: 65,207,754 (GRCm39) |
T142A |
possibly damaging |
Het |
| Lamc1 |
C |
A |
1: 153,126,880 (GRCm39) |
G422V |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,361,094 (GRCm39) |
H691Q |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,042 (GRCm39) |
Y1259C |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,778,498 (GRCm39) |
|
noncoding transcript |
Het |
| Nphs1 |
A |
G |
7: 30,186,089 (GRCm39) |
D1240G |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,590 (GRCm39) |
N158K |
probably damaging |
Het |
| Or5w1 |
A |
T |
2: 87,487,249 (GRCm39) |
N5K |
probably damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,088 (GRCm39) |
T121I |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,679,098 (GRCm39) |
N290S |
probably benign |
Het |
| Pex5l |
G |
A |
3: 33,006,746 (GRCm39) |
T541I |
probably damaging |
Het |
| Plch1 |
A |
C |
3: 63,639,150 (GRCm39) |
|
probably null |
Het |
| Ppp4r3b |
C |
T |
11: 29,163,594 (GRCm39) |
A722V |
probably benign |
Het |
| Ptges3 |
T |
C |
10: 127,906,069 (GRCm39) |
S85P |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,294,719 (GRCm39) |
R201W |
probably damaging |
Het |
| Rcan2 |
C |
A |
17: 44,147,359 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Skint4 |
A |
G |
4: 111,977,207 (GRCm39) |
N199S |
possibly damaging |
Het |
| Smc4 |
A |
G |
3: 68,938,877 (GRCm39) |
T951A |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,762,444 (GRCm39) |
|
probably benign |
Het |
| Snx30 |
T |
C |
4: 59,894,526 (GRCm39) |
V368A |
probably benign |
Het |
| Spata31d1a |
C |
T |
13: 59,849,552 (GRCm39) |
A859T |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,567,941 (GRCm39) |
|
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,775,792 (GRCm39) |
V422A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,933,647 (GRCm39) |
S2356P |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,707 (GRCm39) |
V116A |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,224,959 (GRCm39) |
D683G |
probably benign |
Het |
| Wdr35 |
C |
A |
12: 9,058,550 (GRCm39) |
T580K |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,321,311 (GRCm39) |
N601I |
unknown |
Het |
|
| Other mutations in Afap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation