Incidental Mutation 'IGL02366:Armcx4'
ID290731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Armcx4
Ensembl Gene ENSMUSG00000049804
Gene Namearmadillo repeat containing, X-linked 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.176) question?
Stock #IGL02366
Quality Score
Status
ChromosomeX
Chromosomal Location134686519-134696757 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 134691512 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 723 (K723T)
Ref Sequence ENSEMBL: ENSMUSP00000132914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124226]
Predicted Effect possibly damaging
Transcript: ENSMUST00000124226
AA Change: K723T

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132914
Gene: ENSMUSG00000049804
AA Change: K723T

DomainStartEndE-ValueType
low complexity region 75 85 N/A INTRINSIC
low complexity region 107 121 N/A INTRINSIC
low complexity region 155 166 N/A INTRINSIC
internal_repeat_3 167 357 5.37e-6 PROSPERO
internal_repeat_1 211 401 2.32e-9 PROSPERO
internal_repeat_2 277 414 9.67e-8 PROSPERO
low complexity region 416 437 N/A INTRINSIC
low complexity region 501 525 N/A INTRINSIC
low complexity region 539 554 N/A INTRINSIC
internal_repeat_2 560 697 9.67e-8 PROSPERO
internal_repeat_1 574 764 2.32e-9 PROSPERO
internal_repeat_3 616 790 5.37e-6 PROSPERO
low complexity region 792 805 N/A INTRINSIC
low complexity region 828 838 N/A INTRINSIC
low complexity region 1217 1234 N/A INTRINSIC
low complexity region 1465 1482 N/A INTRINSIC
low complexity region 1620 1637 N/A INTRINSIC
low complexity region 1680 1736 N/A INTRINSIC
low complexity region 1754 1770 N/A INTRINSIC
low complexity region 1792 1829 N/A INTRINSIC
low complexity region 1850 1871 N/A INTRINSIC
low complexity region 1946 1959 N/A INTRINSIC
Pfam:Arm_2 2094 2350 2.6e-89 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T A 15: 12,810,773 H339L probably benign Het
Abcc1 T C 16: 14,467,979 probably benign Het
Ankrd55 T C 13: 112,318,460 Y3H probably damaging Het
Brinp3 T A 1: 146,701,743 V172D possibly damaging Het
Cemip C T 7: 83,943,641 R1226Q probably benign Het
Cntn5 A T 9: 9,984,055 probably benign Het
Cyld T C 8: 88,729,753 V474A probably damaging Het
Dhx40 T C 11: 86,776,702 E537G probably damaging Het
Efhc1 A G 1: 20,960,262 N140D probably damaging Het
Eif6 A G 2: 155,826,172 V49A probably benign Het
Epha4 G T 1: 77,426,711 Y386* probably null Het
Ggnbp2 T C 11: 84,841,601 K222R probably damaging Het
Gm5117 T C 8: 31,737,859 noncoding transcript Het
Gm5852 A T 3: 93,727,261 noncoding transcript Het
Hadha A G 5: 30,135,050 V243A probably benign Het
Hal A G 10: 93,503,528 N493S probably damaging Het
Insrr A G 3: 87,809,909 T731A possibly damaging Het
Irs4 A T X: 141,723,904 L432H probably damaging Het
Kdm4a T G 4: 118,160,506 probably null Het
Lhx4 T C 1: 155,705,188 D197G possibly damaging Het
Mllt10 T A 2: 18,065,087 M18K probably damaging Het
Nars T C 18: 64,503,528 T422A possibly damaging Het
Ncf2 A G 1: 152,835,073 D445G probably benign Het
Ndor1 C A 2: 25,247,981 G544V possibly damaging Het
Notch3 C A 17: 32,144,205 R1268L probably benign Het
Olfr1472 T C 19: 13,454,127 Y130C probably damaging Het
Olfr229 T C 9: 39,909,992 L63P probably damaging Het
Olfr616 A T 7: 103,564,415 V288D probably damaging Het
Olfr771 A T 10: 129,160,625 Y120N probably damaging Het
Osgep T C 14: 50,919,950 D72G probably damaging Het
Pank4 C T 4: 154,969,628 T88I probably benign Het
Pcgf6 T C 19: 47,050,455 E122G possibly damaging Het
Ppp1r21 A G 17: 88,547,662 H123R probably damaging Het
Prex1 A C 2: 166,580,427 L28R probably damaging Het
Rbl1 A T 2: 157,174,893 N595K probably benign Het
Rnf148 T C 6: 23,654,059 I313V probably benign Het
Rnf220 T C 4: 117,489,783 N144S probably benign Het
Sbno2 G A 10: 80,064,202 T577I probably damaging Het
Sez6 T C 11: 77,976,882 I875T probably damaging Het
Slco1a5 A T 6: 142,250,215 V354D possibly damaging Het
Slit2 A T 5: 48,304,068 T1486S possibly damaging Het
Snd1 T C 6: 28,707,150 probably benign Het
Sval3 T C 6: 41,969,725 probably benign Het
Tmem94 T C 11: 115,797,432 L1239P probably damaging Het
Trpm6 T C 19: 18,778,510 probably benign Het
Ttc9 A C 12: 81,631,610 D69A possibly damaging Het
Ttn A T 2: 76,763,236 L20687M probably benign Het
Zfp748 T A 13: 67,545,427 probably benign Het
Other mutations in Armcx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0627:Armcx4 UTSW X 134695823 missense possibly damaging 0.71
R2507:Armcx4 UTSW X 134695379 missense possibly damaging 0.86
R3411:Armcx4 UTSW X 134691025 missense probably benign 0.18
X0013:Armcx4 UTSW X 134694307 missense possibly damaging 0.53
Z1176:Armcx4 UTSW X 134693042 missense not run
Z1176:Armcx4 UTSW X 134694091 missense possibly damaging 0.53
Z1177:Armcx4 UTSW X 134693042 missense not run
Posted On2015-04-16