Incidental Mutation 'R5939:Armh1'
ID462419
Institutional Source Beutler Lab
Gene Symbol Armh1
Ensembl Gene ENSMUSG00000060268
Gene Namearmadillo-like helical domain containing 1
SynonymsLOC381543, LOC381544, Ncrna00082
MMRRC Submission 043243-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R5939 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location117213333-117252125 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117229922 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 182 (Y182C)
Ref Sequence ENSEMBL: ENSMUSP00000128613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077500] [ENSMUST00000165128]
Predicted Effect probably damaging
Transcript: ENSMUST00000077500
AA Change: Y182C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076706
Gene: ENSMUSG00000060268
AA Change: Y182C

DomainStartEndE-ValueType
SCOP:d1qbkb_ 156 272 3e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165128
AA Change: Y182C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128613
Gene: ENSMUSG00000060268
AA Change: Y182C

DomainStartEndE-ValueType
low complexity region 162 176 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,914,122 F225I probably damaging Het
Ager G T 17: 34,598,201 C38F probably damaging Het
Arel1 C A 12: 84,926,292 R577L probably damaging Het
BC005561 T C 5: 104,519,207 Y532H possibly damaging Het
Cabp2 G T 19: 4,086,470 C172F possibly damaging Het
Cenps C A 4: 149,130,201 probably benign Het
D630045J12Rik A C 6: 38,194,969 S755A possibly damaging Het
Duox1 A T 2: 122,346,351 H1451L probably damaging Het
Dync2h1 A G 9: 7,037,801 V3359A probably damaging Het
Erlin2 T C 8: 27,036,526 F305L probably benign Het
Gm10428 A C 11: 62,753,462 probably benign Het
Gnal G A 18: 67,191,385 V204M probably damaging Het
Intu T C 3: 40,692,584 V629A probably damaging Het
Lrguk G T 6: 34,078,753 C435F probably damaging Het
Man1c1 C T 4: 134,565,836 V543M probably damaging Het
Mcm3ap A G 10: 76,508,361 H1779R probably benign Het
Neb T C 2: 52,257,594 T2776A probably benign Het
Nek10 A T 14: 14,931,290 Y754F possibly damaging Het
Nr3c1 A G 18: 39,420,653 I664T probably benign Het
Nrip1 T C 16: 76,292,122 E849G probably damaging Het
Nrros A G 16: 32,143,454 F546L probably benign Het
Olfr1120 A C 2: 87,357,704 I87L possibly damaging Het
Olfr1167 T C 2: 88,149,509 Y170C probably damaging Het
Pcdhb16 A G 18: 37,478,064 T26A probably benign Het
Penk A G 4: 4,138,010 F45S probably benign Het
Ppp2r3a A T 9: 101,212,625 N166K probably benign Het
Psmb1 A G 17: 15,498,178 F29L probably damaging Het
Rab23 T C 1: 33,723,909 V20A probably damaging Het
Ryr1 C T 7: 29,116,127 A113T probably damaging Het
Ryr2 C T 13: 11,790,332 R882K probably damaging Het
Slc6a6 A G 6: 91,754,948 N586S probably benign Het
Slc9c1 A G 16: 45,547,668 I207V probably benign Het
Spef2 G A 15: 9,614,215 T1215I probably benign Het
Tmc7 C T 7: 118,545,727 A537T probably benign Het
Tmem246 T A 4: 49,586,412 Q252L probably damaging Het
Tmem70 T C 1: 16,677,391 V243A probably benign Het
Top2b T C 14: 16,422,786 Y1408H probably damaging Het
Tpcn1 A T 5: 120,539,827 F642I probably damaging Het
Xirp1 T G 9: 120,018,509 D436A probably benign Het
Other mutations in Armh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Armh1 APN 4 117237663 missense probably benign 0.37
R0350:Armh1 UTSW 4 117215556 nonsense probably null
R0584:Armh1 UTSW 4 117229850 missense probably damaging 1.00
R1570:Armh1 UTSW 4 117229992 missense probably damaging 1.00
R4335:Armh1 UTSW 4 117214463 missense probably damaging 0.99
R4898:Armh1 UTSW 4 117237780 missense probably damaging 1.00
R6300:Armh1 UTSW 4 117231782 missense probably damaging 1.00
R6815:Armh1 UTSW 4 117229937 missense probably damaging 1.00
R7526:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7529:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7630:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7632:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7659:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7660:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7662:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7663:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7665:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7666:Armh1 UTSW 4 117213741 missense probably benign 0.02
R7713:Armh1 UTSW 4 117214228 missense possibly damaging 0.65
Z1088:Armh1 UTSW 4 117213795 missense probably benign
Predicted Primers PCR Primer
(F):5'- TTAGGTCTGTGGGAAGCACC -3'
(R):5'- TAAACAAGCTCAGTCGAGATGC -3'

Sequencing Primer
(F):5'- CCGCTGGGAAAGGTAAGACTG -3'
(R):5'- GCTCAGTCGAGATGCTCTTAAAGC -3'
Posted On2017-02-28