Incidental Mutation 'R5985:Armh3'
ID 481630
Institutional Source Beutler Lab
Gene Symbol Armh3
Ensembl Gene ENSMUSG00000039901
Gene Name armadillo-like helical domain containing 3
Synonyms 9130011E15Rik
MMRRC Submission 044165-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5985 (G1)
Quality Score 187.009
Status Validated
Chromosome 19
Chromosomal Location 45805803-45986927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45808763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 643 (Y643N)
Ref Sequence ENSEMBL: ENSMUSP00000048454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026247] [ENSMUST00000045396] [ENSMUST00000079431] [ENSMUST00000161886] [ENSMUST00000162528] [ENSMUST00000162661]
AlphaFold Q6PD19
Predicted Effect probably benign
Transcript: ENSMUST00000026247
SMART Domains Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 126 154 1e-1 SMART
EFh 162 190 1.88e-6 SMART
EFh 210 238 4.6e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000045396
AA Change: Y643N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: Y643N

DomainStartEndE-ValueType
low complexity region 155 167 N/A INTRINSIC
low complexity region 327 348 N/A INTRINSIC
DUF1741 435 671 5.65e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000079431
SMART Domains Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 126 154 1e-1 SMART
EFh 162 190 1.88e-6 SMART
EFh 210 238 4.6e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111906
Predicted Effect probably benign
Transcript: ENSMUST00000161886
SMART Domains Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 94 122 1e-1 SMART
EFh 130 158 1.88e-6 SMART
EFh 178 206 4.6e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162528
SMART Domains Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
low complexity region 64 75 N/A INTRINSIC
EFh 144 172 1e-1 SMART
EFh 180 208 1.88e-6 SMART
EFh 228 256 4.6e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162661
SMART Domains Protein: ENSMUSP00000124821
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 94 122 3.4e-4 SMART
EFh 142 170 1.63e-1 SMART
Meta Mutation Damage Score 0.4973 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,241,628 (GRCm39) I1164L probably benign Het
Actn1 C A 12: 80,215,169 (GRCm39) G864V probably damaging Het
Adgrf1 T C 17: 43,604,146 (GRCm39) I34T probably benign Het
Ankrd10 T A 8: 11,669,077 (GRCm39) K225* probably null Het
Ankrd29 G A 18: 12,412,832 (GRCm39) A115V probably damaging Het
Atg2a A G 19: 6,304,667 (GRCm39) T1175A probably damaging Het
Atp12a A G 14: 56,621,798 (GRCm39) D781G probably damaging Het
B4galnt3 G A 6: 120,187,119 (GRCm39) P759S probably damaging Het
Card10 T C 15: 78,675,411 (GRCm39) I448V probably benign Het
Col15a1 T C 4: 47,284,507 (GRCm39) F821L probably damaging Het
Cpeb3 T C 19: 37,064,952 (GRCm39) Y498C probably damaging Het
Defb37 A T 8: 19,036,347 (GRCm39) C58S probably damaging Het
Faap20 T C 4: 155,334,797 (GRCm39) probably benign Het
Frem1 C T 4: 82,884,287 (GRCm39) V1204I probably benign Het
Gal3st2 T C 1: 93,801,335 (GRCm39) V46A possibly damaging Het
Gan C T 8: 117,922,557 (GRCm39) S430L possibly damaging Het
Gas2 T A 7: 51,593,424 (GRCm39) I168K probably damaging Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gm3898 G A 9: 43,741,329 (GRCm39) noncoding transcript Het
Gria4 T C 9: 4,503,593 (GRCm39) Q341R probably damaging Het
Herpud1 G A 8: 95,117,422 (GRCm39) R2Q probably damaging Het
Klf15 G A 6: 90,443,703 (GRCm39) G93R possibly damaging Het
Mtmr7 A G 8: 41,004,873 (GRCm39) F568L probably benign Het
Myod1 A G 7: 46,027,222 (GRCm39) Y229C probably damaging Het
Or12e14 A G 2: 87,187,949 (GRCm39) I54V probably benign Het
Or5l13 A G 2: 87,779,665 (GRCm39) M304T probably benign Het
Phf11b A G 14: 59,559,027 (GRCm39) L235P possibly damaging Het
Pira1 C A 7: 3,740,316 (GRCm39) G302C probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Prox1 A T 1: 189,879,152 (GRCm39) F675L possibly damaging Het
Rnf144a C T 12: 26,367,779 (GRCm39) E176K probably benign Het
Safb2 T C 17: 56,870,181 (GRCm39) E965G possibly damaging Het
Sik3 A G 9: 46,122,973 (GRCm39) N874S probably damaging Het
Slitrk3 T C 3: 72,958,233 (GRCm39) I180V probably damaging Het
Speg T C 1: 75,383,328 (GRCm39) V1141A possibly damaging Het
Spns1 G A 7: 125,975,902 (GRCm39) T84I probably benign Het
Syne2 C G 12: 76,012,933 (GRCm39) P2709R probably damaging Het
Terb1 A T 8: 105,178,439 (GRCm39) S662T probably benign Het
Terb1 A G 8: 105,208,948 (GRCm39) S377P probably damaging Het
Tph1 A G 7: 46,303,205 (GRCm39) Y258H probably damaging Het
Trip12 T A 1: 84,703,492 (GRCm39) E1881D probably damaging Het
Trpc7 A G 13: 56,958,358 (GRCm39) L412P probably damaging Het
Ttll13 C T 7: 79,904,386 (GRCm39) A337V probably damaging Het
Ugt2b1 T C 5: 87,067,527 (GRCm39) K344E possibly damaging Het
Vmn1r36 T A 6: 66,693,855 (GRCm39) I7F probably benign Het
Vmn2r14 A T 5: 109,368,082 (GRCm39) N303K possibly damaging Het
Vmn2r25 A G 6: 123,800,587 (GRCm39) V585A probably benign Het
Zan A C 5: 137,444,299 (GRCm39) probably null Het
Zfp423 A T 8: 88,508,774 (GRCm39) N502K possibly damaging Het
Zfp473 C T 7: 44,382,752 (GRCm39) R526Q probably damaging Het
Other mutations in Armh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Armh3 APN 19 45,928,927 (GRCm39) missense probably benign 0.19
IGL00788:Armh3 APN 19 45,920,789 (GRCm39) critical splice donor site probably null
IGL01356:Armh3 APN 19 45,954,742 (GRCm39) missense possibly damaging 0.94
IGL01477:Armh3 APN 19 45,967,043 (GRCm39) missense probably damaging 0.99
IGL01660:Armh3 APN 19 45,928,915 (GRCm39) missense probably damaging 1.00
IGL02193:Armh3 APN 19 45,961,323 (GRCm39) missense probably benign 0.02
IGL02863:Armh3 APN 19 45,946,850 (GRCm39) missense probably damaging 1.00
IGL03108:Armh3 APN 19 45,808,792 (GRCm39) missense probably damaging 0.99
R0035:Armh3 UTSW 19 45,879,679 (GRCm39) missense probably damaging 1.00
R0791:Armh3 UTSW 19 45,922,307 (GRCm39) splice site probably null
R0792:Armh3 UTSW 19 45,922,307 (GRCm39) splice site probably null
R1487:Armh3 UTSW 19 45,928,882 (GRCm39) critical splice donor site probably null
R1843:Armh3 UTSW 19 45,963,691 (GRCm39) missense probably benign 0.17
R2061:Armh3 UTSW 19 45,967,106 (GRCm39) missense probably damaging 1.00
R2070:Armh3 UTSW 19 45,879,724 (GRCm39) missense probably damaging 1.00
R2072:Armh3 UTSW 19 45,953,820 (GRCm39) missense probably damaging 0.99
R2073:Armh3 UTSW 19 45,953,820 (GRCm39) missense probably damaging 0.99
R2074:Armh3 UTSW 19 45,953,820 (GRCm39) missense probably damaging 0.99
R2091:Armh3 UTSW 19 45,941,119 (GRCm39) missense probably damaging 1.00
R2263:Armh3 UTSW 19 45,920,788 (GRCm39) critical splice donor site probably null
R2863:Armh3 UTSW 19 45,874,396 (GRCm39) missense probably damaging 1.00
R3236:Armh3 UTSW 19 45,963,722 (GRCm39) splice site probably benign
R3796:Armh3 UTSW 19 45,910,049 (GRCm39) splice site probably benign
R4044:Armh3 UTSW 19 45,808,763 (GRCm39) missense probably damaging 1.00
R4716:Armh3 UTSW 19 45,948,781 (GRCm39) missense probably damaging 1.00
R4974:Armh3 UTSW 19 45,808,726 (GRCm39) missense probably damaging 1.00
R4983:Armh3 UTSW 19 45,939,146 (GRCm39) missense probably benign
R5063:Armh3 UTSW 19 45,874,394 (GRCm39) missense possibly damaging 0.95
R5313:Armh3 UTSW 19 45,807,414 (GRCm39) missense probably damaging 1.00
R5782:Armh3 UTSW 19 45,874,466 (GRCm39) missense probably benign 0.08
R6220:Armh3 UTSW 19 45,834,554 (GRCm39) missense possibly damaging 0.79
R6379:Armh3 UTSW 19 45,910,136 (GRCm39) missense possibly damaging 0.46
R6674:Armh3 UTSW 19 45,963,437 (GRCm39) missense probably benign 0.06
R6842:Armh3 UTSW 19 45,807,416 (GRCm39) missense probably benign 0.05
R6890:Armh3 UTSW 19 45,948,796 (GRCm39) missense probably damaging 1.00
R7034:Armh3 UTSW 19 45,953,688 (GRCm39) missense probably damaging 0.98
R7036:Armh3 UTSW 19 45,953,688 (GRCm39) missense probably damaging 0.98
R7305:Armh3 UTSW 19 45,880,560 (GRCm39) missense probably benign 0.35
R7411:Armh3 UTSW 19 45,953,874 (GRCm39) missense probably benign 0.00
R7762:Armh3 UTSW 19 45,928,882 (GRCm39) critical splice donor site probably null
R8021:Armh3 UTSW 19 45,945,180 (GRCm39) critical splice acceptor site probably null
R8366:Armh3 UTSW 19 45,920,793 (GRCm39) missense probably damaging 1.00
R9336:Armh3 UTSW 19 45,945,120 (GRCm39) missense probably damaging 1.00
X0060:Armh3 UTSW 19 45,920,832 (GRCm39) missense possibly damaging 0.95
Z1088:Armh3 UTSW 19 45,807,344 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAACTGCTTTGACAGAAAGGC -3'
(R):5'- AAGCGTACACTGGCGGTATC -3'

Sequencing Primer
(F):5'- CTGCATAGCAAGCCCCTGTAG -3'
(R):5'- CCTATAATATCAGCACTTGGGAGGC -3'
Posted On 2017-06-26