Incidental Mutation 'IGL02974:Amn'
ID 406264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amn
Ensembl Gene ENSMUSG00000021278
Gene Name amnionless
Synonyms 5033428N14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02974
Quality Score
Status
Chromosome 12
Chromosomal Location 111237530-111242860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111237575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 7 (V7A)
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000021707
AA Change: V7A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000021707
Gene: ENSMUSG00000021278
AA Change: V7A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,545,479 (GRCm39) T242M probably damaging Het
Abcg3 A T 5: 105,116,129 (GRCm39) I235N probably damaging Het
Agbl3 T C 6: 34,776,757 (GRCm39) L416S probably damaging Het
Alcam T C 16: 52,116,079 (GRCm39) D165G probably benign Het
Aldh18a1 T A 19: 40,557,528 (GRCm39) I341F probably damaging Het
Apc C T 18: 34,401,436 (GRCm39) probably benign Het
Arg2 T C 12: 79,197,566 (GRCm39) Y195H probably damaging Het
Bdp1 A T 13: 100,191,800 (GRCm39) M22K probably benign Het
Cacna1s T G 1: 136,020,355 (GRCm39) N797K possibly damaging Het
Chd8 T A 14: 52,439,158 (GRCm39) probably null Het
Clstn2 G A 9: 97,414,760 (GRCm39) T378M probably damaging Het
Elf2 A G 3: 51,165,110 (GRCm39) V298A probably damaging Het
Fbn1 C T 2: 125,188,250 (GRCm39) D1530N probably null Het
Fcrl2 A T 3: 87,164,704 (GRCm39) I274N possibly damaging Het
Fmo3 C T 1: 162,810,619 (GRCm39) E24K probably damaging Het
Fndc3b A T 3: 27,542,425 (GRCm39) N408K probably damaging Het
Foxn2 A T 17: 88,770,543 (GRCm39) N130I probably damaging Het
Fscb T A 12: 64,518,299 (GRCm39) I1056F unknown Het
Gimap5 A C 6: 48,730,311 (GRCm39) T294P possibly damaging Het
Gm20489 T C X: 100,307,320 (GRCm39) Q11R probably damaging Het
Gpr3 T C 4: 132,938,220 (GRCm39) T151A possibly damaging Het
Gzmc T A 14: 56,471,451 (GRCm39) H30L probably damaging Het
Ints6l C A X: 55,552,296 (GRCm39) S845Y probably benign Het
Iqcf3 A T 9: 106,430,844 (GRCm39) C101* probably null Het
Krt82 G A 15: 101,459,020 (GRCm39) Q7* probably null Het
L3mbtl1 A T 2: 162,812,103 (GRCm39) H716L possibly damaging Het
Lefty1 C A 1: 180,762,842 (GRCm39) H56Q probably benign Het
Lrp1 T C 10: 127,390,885 (GRCm39) Y3004C probably damaging Het
Lrp10 C A 14: 54,705,341 (GRCm39) S177* probably null Het
Naa15 A G 3: 51,368,628 (GRCm39) K576R possibly damaging Het
Naip2 A G 13: 100,298,186 (GRCm39) S617P probably damaging Het
Olfm1 T G 2: 28,119,701 (GRCm39) N445K probably damaging Het
Or4ac1-ps1 C T 2: 88,370,579 (GRCm39) silent Het
Or5b24 T G 19: 12,912,399 (GRCm39) V99G probably benign Het
Ostm1 T A 10: 42,559,158 (GRCm39) N139K probably damaging Het
Ovol1 A G 19: 5,601,177 (GRCm39) Y205H probably damaging Het
Pappa C T 4: 65,123,172 (GRCm39) L836F probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ppfia2 A G 10: 106,636,637 (GRCm39) K229E probably benign Het
Ppm1b T A 17: 85,301,252 (GRCm39) V44E possibly damaging Het
Rapgef1 T C 2: 29,600,228 (GRCm39) F611L possibly damaging Het
Rev3l T A 10: 39,738,743 (GRCm39) Y2832* probably null Het
Robo1 T A 16: 72,803,750 (GRCm39) Y1099N probably benign Het
Sf3b1 T C 1: 55,046,866 (GRCm39) H226R probably benign Het
Slc26a4 C T 12: 31,579,553 (GRCm39) V570I probably damaging Het
Slc27a1 C A 8: 72,036,847 (GRCm39) A361D probably damaging Het
Srp68 T C 11: 116,137,051 (GRCm39) N549D probably benign Het
Terb1 G T 8: 105,221,600 (GRCm39) S202* probably null Het
Tmc1 T A 19: 20,878,208 (GRCm39) M96L probably benign Het
Tmprss11d A G 5: 86,454,235 (GRCm39) V190A probably damaging Het
Ttll6 G A 11: 96,047,528 (GRCm39) C709Y probably benign Het
Uba1 A G X: 20,544,959 (GRCm39) H712R probably benign Het
Unc80 A C 1: 66,564,817 (GRCm39) T835P possibly damaging Het
Vmn2r14 G A 5: 109,369,292 (GRCm39) P94S possibly damaging Het
Yes1 C T 5: 32,818,112 (GRCm39) A383V probably damaging Het
Other mutations in Amn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02