Incidental Mutation 'R3924:Amn'
| ID |
307101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amn
|
| Ensembl Gene |
ENSMUSG00000021278 |
| Gene Name |
amnionless |
| Synonyms |
5033428N14Rik |
| MMRRC Submission |
040915-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3924 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111237530-111242860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111242114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 367
(V367A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021707]
|
| AlphaFold |
Q99JB7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021707
AA Change: V367A
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278
AA Change: V367A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Amnionless
|
21 |
451 |
6.4e-142 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220903
|
| Meta Mutation Damage Score |
0.1306 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (39/40) |
| MGI Phenotype |
FUNCTION: This gene encodes a type I transmembrane protein. The encoded protein is an essential component of the cubulin receptor complex which is thought to play a role in coordinating growth and patterning of the embryo. This protein is thought to modulate a bone morphogenetic protein (BMP) signaling pathway. A homoygous mutation in the mouse gene results in the lack of an amnion in embryos. Mutations in the human gene are associated with Megaloblastic Anemia-1. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic growth arrest between the mid and late streak stages of gastrulation and abnormal ectoderm formation, followed by death. Generation of middle primitive streak derivatives is impaired, leading to absence of mesoderm and somites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,343,705 (GRCm39) |
V119F |
probably benign |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,221 (GRCm39) |
V533D |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Aldh3b3 |
A |
G |
19: 4,018,491 (GRCm39) |
N402S |
probably damaging |
Het |
| Arpin |
A |
G |
7: 79,579,435 (GRCm39) |
Y63H |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,073,778 (GRCm39) |
L781P |
probably damaging |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Csad |
T |
C |
15: 102,086,991 (GRCm39) |
S427G |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,153,339 (GRCm39) |
V443A |
probably damaging |
Het |
| Dlat |
A |
G |
9: 50,569,490 (GRCm39) |
S160P |
possibly damaging |
Het |
| Dpf1 |
A |
G |
7: 29,011,098 (GRCm39) |
R165G |
possibly damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Fa2h |
A |
G |
8: 112,120,147 (GRCm39) |
Y80H |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,610,902 (GRCm39) |
F509S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,492,221 (GRCm39) |
S350P |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,799,596 (GRCm39) |
|
probably benign |
Het |
| Gm3604 |
A |
G |
13: 62,518,044 (GRCm39) |
S105P |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,200,420 (GRCm39) |
L362F |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,149,624 (GRCm39) |
V86A |
probably benign |
Het |
| Lpcat4 |
G |
T |
2: 112,077,061 (GRCm39) |
Q468H |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,270,168 (GRCm39) |
I797T |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,963 (GRCm39) |
I912F |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,029,350 (GRCm39) |
G1038* |
probably null |
Het |
| Nptx1 |
G |
T |
11: 119,438,333 (GRCm39) |
T28N |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,516,105 (GRCm39) |
N317S |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,434 (GRCm39) |
M417V |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,698,607 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rasd2 |
A |
G |
8: 75,948,602 (GRCm39) |
N176S |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,124,785 (GRCm39) |
V339A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,859,048 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,041,827 (GRCm39) |
W676R |
probably benign |
Het |
| Sipa1 |
G |
A |
19: 5,710,407 (GRCm39) |
T201I |
probably benign |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Zfp946 |
G |
T |
17: 22,674,682 (GRCm39) |
G479C |
probably benign |
Het |
|
| Other mutations in Amn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01479:Amn
|
APN |
12 |
111,238,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02397:Amn
|
APN |
12 |
111,240,913 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02962:Amn
|
APN |
12 |
111,240,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Amn
|
APN |
12 |
111,237,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02837:Amn
|
UTSW |
12 |
111,238,333 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0357:Amn
|
UTSW |
12 |
111,240,575 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1986:Amn
|
UTSW |
12 |
111,241,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Amn
|
UTSW |
12 |
111,242,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2355:Amn
|
UTSW |
12 |
111,238,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3925:Amn
|
UTSW |
12 |
111,242,114 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4364:Amn
|
UTSW |
12 |
111,238,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4687:Amn
|
UTSW |
12 |
111,242,502 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6176:Amn
|
UTSW |
12 |
111,240,590 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6209:Amn
|
UTSW |
12 |
111,241,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6300:Amn
|
UTSW |
12 |
111,240,623 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6591:Amn
|
UTSW |
12 |
111,241,831 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6691:Amn
|
UTSW |
12 |
111,241,831 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8475:Amn
|
UTSW |
12 |
111,241,819 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8747:Amn
|
UTSW |
12 |
111,241,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Amn
|
UTSW |
12 |
111,237,585 (GRCm39) |
nonsense |
probably null |
|
|
X0025:Amn
|
UTSW |
12 |
111,241,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Amn
|
UTSW |
12 |
111,242,117 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACAGAGTCCGGACCAAC -3'
(R):5'- AATCGGATTTCGGAAACCCAG -3'
Sequencing Primer
(F):5'- ACACCGAGATCCAGGTGGTG -3'
(R):5'- ATACGGGCTCAGCGTCTTCATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation