Incidental Mutation 'R8214:Amph'
| ID |
636322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amph
|
| Ensembl Gene |
ENSMUSG00000021314 |
| Gene Name |
amphiphysin |
| Synonyms |
|
| MMRRC Submission |
067656-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R8214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
19132375-19335091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19288468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 319
(N319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003345]
[ENSMUST00000200466]
|
| AlphaFold |
Q7TQF7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003345
AA Change: N319S
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003345
Gene: ENSMUSG00000021314
AA Change: N319S
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
12 |
233 |
8.47e-80 |
SMART |
|
low complexity region
|
260 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
499 |
N/A |
INTRINSIC |
|
SH3
|
616 |
686 |
7.82e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000200466
AA Change: N319S
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142766
Gene: ENSMUSG00000021314
AA Change: N319S
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
12 |
233 |
2.3e-82 |
SMART |
|
low complexity region
|
260 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
503 |
N/A |
INTRINSIC |
|
SH3
|
620 |
690 |
4.9e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a targeted mutation of this gene exhibit learning deficits and synaptic vesicle recycling defects, and die between 2 to 5 months of age from rare irreversible seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,177,447 (GRCm39) |
R52Q |
|
Het |
| Abcc3 |
C |
T |
11: 94,254,344 (GRCm39) |
R718H |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,738,253 (GRCm39) |
M1166V |
probably benign |
Het |
| Abhd16b |
C |
T |
2: 181,135,983 (GRCm39) |
T295I |
probably damaging |
Het |
| Ankrd27 |
A |
G |
7: 35,313,944 (GRCm39) |
D425G |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,712,609 (GRCm39) |
S316P |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,431,921 (GRCm39) |
S649P |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,444,196 (GRCm39) |
S411P |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,228,215 (GRCm39) |
E987G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,021,711 (GRCm39) |
D3537G |
probably damaging |
Het |
| Dnpep |
A |
T |
1: 75,292,642 (GRCm39) |
W126R |
probably damaging |
Het |
| Efcab2 |
T |
C |
1: 178,265,015 (GRCm39) |
V27A |
probably benign |
Het |
| Kctd21 |
T |
C |
7: 96,996,548 (GRCm39) |
L7P |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,044,854 (GRCm39) |
T216I |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,257 (GRCm39) |
M87K |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,177,691 (GRCm39) |
V1646A |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,502,592 (GRCm39) |
T359A |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,356,685 (GRCm39) |
K1092E |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,329,729 (GRCm39) |
E162G |
probably benign |
Het |
| Or10ak11 |
A |
T |
4: 118,687,288 (GRCm39) |
F117L |
probably benign |
Het |
| Or52e2 |
A |
C |
7: 102,804,613 (GRCm39) |
S114A |
probably damaging |
Het |
| Or5p54 |
T |
A |
7: 107,554,174 (GRCm39) |
S109T |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,454,636 (GRCm39) |
V339L |
probably benign |
Het |
| Plec |
A |
G |
15: 76,076,484 (GRCm39) |
W145R |
unknown |
Het |
| Polr3f |
A |
G |
2: 144,378,230 (GRCm39) |
N201D |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,662,139 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
A |
G |
18: 58,070,791 (GRCm39) |
I1048V |
probably benign |
Het |
| Sult2a4 |
A |
G |
7: 13,723,401 (GRCm39) |
I39T |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,614 (GRCm39) |
V2247A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,645,247 (GRCm39) |
R2385C |
probably damaging |
Het |
| Tomm70a |
G |
T |
16: 56,942,330 (GRCm39) |
A36S |
unknown |
Het |
| Top2b |
G |
A |
14: 16,383,177 (GRCm38) |
R55H |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,347 (GRCm39) |
I636V |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,824,714 (GRCm39) |
I629M |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,424 (GRCm39) |
E66G |
noncoding transcript |
Het |
| Vmn1r189 |
C |
T |
13: 22,286,301 (GRCm39) |
V179I |
probably benign |
Het |
| Vmn2r105 |
T |
G |
17: 20,448,775 (GRCm39) |
E134A |
probably benign |
Het |
| Wdr70 |
G |
A |
15: 7,916,851 (GRCm39) |
A522V |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,142,995 (GRCm39) |
C234S |
probably damaging |
Het |
| Zscan5b |
C |
T |
7: 6,236,946 (GRCm39) |
P232S |
possibly damaging |
Het |
|
| Other mutations in Amph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00540:Amph
|
APN |
13 |
19,304,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01866:Amph
|
APN |
13 |
19,326,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02157:Amph
|
APN |
13 |
19,288,401 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02300:Amph
|
APN |
13 |
19,270,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02435:Amph
|
APN |
13 |
19,323,333 (GRCm39) |
splice site |
probably benign |
|
|
IGL03060:Amph
|
APN |
13 |
19,278,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03122:Amph
|
APN |
13 |
19,287,113 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0037:Amph
|
UTSW |
13 |
19,284,823 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0646:Amph
|
UTSW |
13 |
19,297,286 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0652:Amph
|
UTSW |
13 |
19,270,791 (GRCm39) |
splice site |
probably null |
|
|
R1005:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1006:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1199:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1200:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1201:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1333:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1334:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1335:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1337:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1338:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1384:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1397:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1501:Amph
|
UTSW |
13 |
19,288,461 (GRCm39) |
nonsense |
probably null |
|
|
R1528:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1822:Amph
|
UTSW |
13 |
19,132,625 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2004:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2006:Amph
|
UTSW |
13 |
19,326,198 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2061:Amph
|
UTSW |
13 |
19,309,205 (GRCm39) |
nonsense |
probably null |
|
|
R2111:Amph
|
UTSW |
13 |
19,300,436 (GRCm39) |
splice site |
probably benign |
|
|
R2329:Amph
|
UTSW |
13 |
19,323,520 (GRCm39) |
missense |
probably benign |
|
|
R2878:Amph
|
UTSW |
13 |
19,288,437 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3121:Amph
|
UTSW |
13 |
19,297,316 (GRCm39) |
nonsense |
probably null |
|
|
R3548:Amph
|
UTSW |
13 |
19,287,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Amph
|
UTSW |
13 |
19,326,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Amph
|
UTSW |
13 |
19,321,870 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4492:Amph
|
UTSW |
13 |
19,333,928 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4855:Amph
|
UTSW |
13 |
19,268,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Amph
|
UTSW |
13 |
19,288,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Amph
|
UTSW |
13 |
19,321,869 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5777:Amph
|
UTSW |
13 |
19,230,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5787:Amph
|
UTSW |
13 |
19,132,624 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6091:Amph
|
UTSW |
13 |
19,309,293 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7100:Amph
|
UTSW |
13 |
19,334,011 (GRCm39) |
makesense |
probably null |
|
|
R7103:Amph
|
UTSW |
13 |
19,333,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7451:Amph
|
UTSW |
13 |
19,261,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Amph
|
UTSW |
13 |
19,270,715 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8165:Amph
|
UTSW |
13 |
19,279,007 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8166:Amph
|
UTSW |
13 |
19,132,660 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9021:Amph
|
UTSW |
13 |
19,284,071 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9241:Amph
|
UTSW |
13 |
19,278,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Amph
|
UTSW |
13 |
19,270,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Amph
|
UTSW |
13 |
19,309,253 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9755:Amph
|
UTSW |
13 |
19,297,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V1662:Amph
|
UTSW |
13 |
19,323,540 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1177:Amph
|
UTSW |
13 |
19,323,504 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCCAAGTGGACAGCATTC -3'
(R):5'- TCACAGTGGTAGGATGACAGC -3'
Sequencing Primer
(F):5'- CCCAAGTGGACAGCATTCTTAACTTG -3'
(R):5'- GTAGGATGACAGCGACTCCTATTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation