Incidental Mutation 'R2355:Amn'
| ID |
246889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Amn
|
| Ensembl Gene |
ENSMUSG00000021278 |
| Gene Name |
amnionless |
| Synonyms |
5033428N14Rik |
| MMRRC Submission |
040337-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2355 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
111237530-111242860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 111238246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 53
(D53E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021706]
[ENSMUST00000021707]
[ENSMUST00000060274]
[ENSMUST00000117269]
|
| AlphaFold |
Q99JB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021706
|
| SMART Domains |
Protein: ENSMUSP00000021706
Gene: ENSMUSG00000021277
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
52 |
87 |
5.85e-2 |
SMART |
|
Pfam:zf-TRAF
|
135 |
191 |
4.6e-18 |
PFAM |
|
Pfam:zf-TRAF
|
191 |
250 |
9.9e-14 |
PFAM |
|
coiled coil region
|
298 |
337 |
N/A |
INTRINSIC |
|
MATH
|
419 |
542 |
5.69e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021707
AA Change: D53E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278
AA Change: D53E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Amnionless
|
21 |
451 |
6.4e-142 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060274
|
| SMART Domains |
Protein: ENSMUSP00000058361
Gene: ENSMUSG00000021277
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
52 |
87 |
5.85e-2 |
SMART |
|
Pfam:zf-TRAF
|
135 |
191 |
1.5e-17 |
PFAM |
|
coiled coil region
|
273 |
312 |
N/A |
INTRINSIC |
|
MATH
|
394 |
517 |
5.69e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117269
|
| SMART Domains |
Protein: ENSMUSP00000112517
Gene: ENSMUSG00000021277
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
52 |
87 |
5.85e-2 |
SMART |
|
Pfam:zf-TRAF
|
135 |
191 |
1.5e-17 |
PFAM |
|
coiled coil region
|
273 |
312 |
N/A |
INTRINSIC |
|
MATH
|
394 |
517 |
5.69e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220551
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220903
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,533 (GRCm39) |
S296P |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,113,673 (GRCm39) |
V524A |
probably damaging |
Het |
| Bbof1 |
A |
G |
12: 84,470,223 (GRCm39) |
E33G |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,578,114 (GRCm39) |
E106G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,479,560 (GRCm39) |
S226T |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,801,350 (GRCm39) |
S698I |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,288,148 (GRCm39) |
L66P |
probably damaging |
Het |
| Cps1 |
C |
T |
1: 67,195,383 (GRCm39) |
P268L |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
A |
T |
5: 146,036,622 (GRCm39) |
M275L |
probably benign |
Het |
| Ddx41 |
T |
G |
13: 55,682,113 (GRCm39) |
M232L |
probably benign |
Het |
| Dnah6 |
C |
A |
6: 73,133,404 (GRCm39) |
A1068S |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,621,661 (GRCm39) |
I1155V |
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,567,565 (GRCm39) |
V611I |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,512,875 (GRCm39) |
Y243C |
probably damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,226,570 (GRCm39) |
Q568* |
probably null |
Het |
| Gm5930 |
A |
G |
14: 44,573,918 (GRCm39) |
S105P |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,389,810 (GRCm39) |
D2032G |
probably benign |
Het |
| Gps2 |
AGTGCT |
A |
11: 69,806,207 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,289 (GRCm39) |
Y136C |
probably damaging |
Het |
| Il12b |
A |
G |
11: 44,301,039 (GRCm39) |
E185G |
probably benign |
Het |
| Kat7 |
A |
C |
11: 95,182,407 (GRCm39) |
I231R |
probably benign |
Het |
| Kcmf1 |
A |
T |
6: 72,827,466 (GRCm39) |
I58N |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,235,966 (GRCm39) |
V646E |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,126,121 (GRCm39) |
Q409R |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,292,253 (GRCm39) |
H369Q |
probably benign |
Het |
| M1ap |
G |
A |
6: 82,933,484 (GRCm39) |
A13T |
probably benign |
Het |
| Mapk8ip2 |
G |
T |
15: 89,343,168 (GRCm39) |
V637L |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,599,316 (GRCm39) |
V570L |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,508,668 (GRCm39) |
N449K |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,020 (GRCm39) |
M166K |
probably benign |
Het |
| Or5b24 |
T |
C |
19: 12,912,383 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or5d18 |
T |
A |
2: 87,865,379 (GRCm39) |
I35F |
probably damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,711 (GRCm39) |
C238Y |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,169 (GRCm39) |
S516R |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,194 (GRCm39) |
M549I |
possibly damaging |
Het |
| Ppl |
A |
G |
16: 4,912,361 (GRCm39) |
V740A |
probably benign |
Het |
| Rabgef1 |
C |
T |
5: 130,240,928 (GRCm39) |
T349M |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,109 (GRCm39) |
C344R |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,611,455 (GRCm39) |
Q172R |
possibly damaging |
Het |
| Smg9 |
G |
A |
7: 24,119,546 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,241,293 (GRCm39) |
N646K |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,896,735 (GRCm39) |
I1181V |
probably benign |
Het |
| Vwa5b1 |
C |
A |
4: 138,319,221 (GRCm39) |
|
probably null |
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 |
|
R3924:Amn
|
UTSW |
12 |
111,242,114 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- CTTTGGAAAGTCGCCTTCCC -3'
(R):5'- AGACCCCACGTACTCTCTGATG -3'
Sequencing Primer
(F):5'- TTGGAAAGTCGCCTTCCCAGAAG -3'
(R):5'- TCTACCCAGAGGCTCCATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation