Incidental Mutation 'R0614:Armcx5'
ID 54984
Institutional Source Beutler Lab
Gene Symbol Armcx5
Ensembl Gene ENSMUSG00000072969
Gene Name armadillo repeat containing, X-linked 5
Synonyms
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R0614 (G1)
Quality Score 225
Status Validated
Chromosome X
Chromosomal Location 134643482-134648071 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134647564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 547 (E547K)
Ref Sequence ENSEMBL: ENSMUSP00000094045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096321] [ENSMUST00000113144] [ENSMUST00000113145] [ENSMUST00000113147]
AlphaFold Q3UZB0
Predicted Effect probably damaging
Transcript: ENSMUST00000096321
AA Change: E547K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094045
Gene: ENSMUSG00000072969
AA Change: E547K

DomainStartEndE-ValueType
low complexity region 71 84 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
Pfam:Arm_2 347 600 2e-113 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113144
SMART Domains Protein: ENSMUSP00000108769
Gene: ENSMUSG00000043384

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 1.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113145
SMART Domains Protein: ENSMUSP00000108770
Gene: ENSMUSG00000043384

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113147
SMART Domains Protein: ENSMUSP00000108772
Gene: ENSMUSG00000043384

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196502
Meta Mutation Damage Score 0.5329 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,340,782 (GRCm39) T137I probably benign Het
3110082I17Rik C T 5: 139,349,786 (GRCm39) V88I possibly damaging Het
4930453N24Rik T A 16: 64,586,977 (GRCm39) Q249L probably damaging Het
Ap1g2 C T 14: 55,337,230 (GRCm39) V702I probably benign Het
Asah2 C A 19: 31,994,128 (GRCm39) V406L probably damaging Het
Atp8b1 T C 18: 64,666,658 (GRCm39) probably benign Het
Axl C A 7: 25,473,588 (GRCm39) R346L probably benign Het
Baz1a G A 12: 54,988,304 (GRCm39) R282* probably null Het
Card14 A G 11: 119,213,653 (GRCm39) N200S probably benign Het
Cdt1 A G 8: 123,294,876 (GRCm39) T28A probably benign Het
Cep250 C T 2: 155,812,017 (GRCm39) Q438* probably null Het
Dapk1 C A 13: 60,865,946 (GRCm39) P181Q probably damaging Het
Dnah17 C T 11: 117,961,394 (GRCm39) probably benign Het
Dph7 T C 2: 24,858,968 (GRCm39) probably null Het
Edc4 A T 8: 106,616,028 (GRCm39) D801V possibly damaging Het
Eif4g2 A G 7: 110,676,430 (GRCm39) probably null Het
Eml2 T C 7: 18,936,516 (GRCm39) L531P probably damaging Het
Ephb2 T C 4: 136,400,676 (GRCm39) Y533C probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fsip2 A G 2: 82,807,877 (GRCm39) K1399E probably benign Het
Hcls1 A G 16: 36,782,987 (GRCm39) D446G probably damaging Het
Hif1a T A 12: 73,992,405 (GRCm39) N787K probably damaging Het
Ints14 T C 9: 64,871,715 (GRCm39) S18P probably benign Het
Kalrn A T 16: 33,814,040 (GRCm39) probably benign Het
Llgl2 T A 11: 115,741,093 (GRCm39) D502E probably damaging Het
Lrwd1 A G 5: 136,152,354 (GRCm39) V570A probably damaging Het
Mga C G 2: 119,794,947 (GRCm39) P2877R probably damaging Het
Mvd T C 8: 123,163,292 (GRCm39) I313V probably benign Het
Myo15b C A 11: 115,773,739 (GRCm39) P270T probably damaging Het
Naip1 C A 13: 100,580,708 (GRCm39) V180L probably benign Het
Ofd1 T C X: 165,218,536 (GRCm39) probably benign Het
Or1j19 T A 2: 36,676,705 (GRCm39) L56H probably damaging Het
Or4c125 T A 2: 89,170,329 (GRCm39) I106F probably damaging Het
Or4d11 A T 19: 12,013,929 (GRCm39) M59K possibly damaging Het
Otogl G A 10: 107,634,216 (GRCm39) P1420S probably benign Het
Pakap C A 4: 57,856,720 (GRCm39) A926E probably benign Het
Pcnt C T 10: 76,256,150 (GRCm39) V697M probably damaging Het
Plekha7 A T 7: 115,753,880 (GRCm39) Y702* probably null Het
Plxnb3 A G X: 72,807,964 (GRCm39) probably benign Het
Ptgis A G 2: 167,048,802 (GRCm39) F405L probably damaging Het
Ptprk C T 10: 27,951,132 (GRCm39) P19L probably damaging Het
Ptprt A G 2: 161,654,040 (GRCm39) V530A possibly damaging Het
Rasgrp4 A T 7: 28,845,276 (GRCm39) Y299F probably damaging Het
Slc39a11 T A 11: 113,414,452 (GRCm39) probably null Het
Slc6a15 T A 10: 103,240,213 (GRCm39) L312* probably null Het
Slf1 T A 13: 77,197,233 (GRCm39) M794L probably benign Het
Sntg2 G A 12: 30,307,977 (GRCm39) T236I possibly damaging Het
Stau1 T C 2: 166,792,726 (GRCm39) Y413C probably damaging Het
Syne2 T G 12: 75,959,127 (GRCm39) probably null Het
Tas2r104 A T 6: 131,662,165 (GRCm39) N181K probably damaging Het
Tmem81 G A 1: 132,435,469 (GRCm39) V92I probably benign Het
Trap1 A G 16: 3,878,615 (GRCm39) probably benign Het
Trip12 T C 1: 84,735,482 (GRCm39) E905G probably damaging Het
Usp2 C T 9: 44,003,789 (GRCm39) R494* probably null Het
Vps13a G T 19: 16,630,058 (GRCm39) R2692S probably damaging Het
Zfhx3 T C 8: 109,675,171 (GRCm39) S2074P probably benign Het
Zfhx3 C G 8: 109,675,599 (GRCm39) Y2216* probably null Het
Zfp423 A G 8: 88,508,742 (GRCm39) F409S probably damaging Het
Zfp472 G A 17: 33,196,908 (GRCm39) E328K possibly damaging Het
Zfp619 T A 7: 39,187,099 (GRCm39) M1043K possibly damaging Het
Zfp940 T C 7: 29,545,671 (GRCm39) I79V probably benign Het
Other mutations in Armcx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Armcx5 APN X 134,647,112 (GRCm39) missense probably damaging 1.00
IGL02382:Armcx5 APN X 134,647,577 (GRCm39) missense probably damaging 1.00
IGL02596:Armcx5 APN X 134,647,268 (GRCm39) missense probably damaging 1.00
R4551:Armcx5 UTSW X 134,647,256 (GRCm39) missense probably damaging 1.00
R4553:Armcx5 UTSW X 134,647,256 (GRCm39) missense probably damaging 1.00
R7897:Armcx5 UTSW X 134,646,453 (GRCm39) intron probably benign
R8298:Armcx5 UTSW X 134,646,453 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GGGGATCAGTCCTGCTTACCCATT -3'
(R):5'- CACATCAGGGTCACTGTGGTCTGTT -3'

Sequencing Primer
(F):5'- CTTTGAACTGCTCTGTGCAAG -3'
(R):5'- GGTCACTGTGGTCTGTTAAGTC -3'
Posted On 2013-07-11