Incidental Mutation 'IGL01798:Afap1'
| ID |
155435 |
| 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: 0.161)
|
| Stock # |
IGL01798
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36050713-36161267 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 36093026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064571]
[ENSMUST00000141824]
|
| AlphaFold |
Q80YS6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064571
|
| SMART Domains |
Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
| 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 null
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 |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,163,921 (GRCm39) |
I818V |
probably benign |
Het |
| Adam22 |
A |
C |
5: 8,282,604 (GRCm39) |
|
probably null |
Het |
| Aunip |
G |
T |
4: 134,250,722 (GRCm39) |
K222N |
possibly damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,442,122 (GRCm39) |
V382A |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,721,612 (GRCm39) |
D1123G |
probably damaging |
Het |
| Cxcr1 |
T |
A |
1: 74,231,759 (GRCm39) |
I88F |
possibly damaging |
Het |
| Duox2 |
A |
C |
2: 122,112,389 (GRCm39) |
Y1266D |
probably damaging |
Het |
| Elk4 |
T |
A |
1: 131,945,592 (GRCm39) |
S157T |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,597,298 (GRCm39) |
T1004A |
possibly damaging |
Het |
| Fah |
T |
C |
7: 84,238,837 (GRCm39) |
N336S |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,919,332 (GRCm39) |
S253T |
possibly damaging |
Het |
| Gm10377 |
A |
T |
14: 42,614,864 (GRCm39) |
I167K |
probably benign |
Het |
| Hipk1 |
A |
T |
3: 103,668,875 (GRCm39) |
I507N |
probably damaging |
Het |
| Hnf1a |
T |
C |
5: 115,091,732 (GRCm39) |
E357G |
probably damaging |
Het |
| Ighv1-22 |
A |
T |
12: 114,710,298 (GRCm39) |
L10H |
probably damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,574 (GRCm39) |
Y56H |
probably damaging |
Het |
| Lyrm9 |
A |
G |
11: 78,728,955 (GRCm39) |
I56V |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,419,907 (GRCm39) |
T804K |
probably damaging |
Het |
| Nfu1 |
T |
A |
6: 86,992,605 (GRCm39) |
I73K |
probably damaging |
Het |
| Ruvbl2 |
A |
G |
7: 45,071,587 (GRCm39) |
L432P |
probably damaging |
Het |
| Tcf3 |
T |
C |
10: 80,249,043 (GRCm39) |
T527A |
probably benign |
Het |
| Tle1 |
T |
C |
4: 72,055,385 (GRCm39) |
D432G |
probably 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 |
|
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 |
2014-02-04 |
Incidental Mutation