Incidental Mutation 'R3935:Arx'
ID 307157
Institutional Source Beutler Lab
Gene Symbol Arx
Ensembl Gene ENSMUSG00000035277
Gene Name aristaless related homeobox
Synonyms Arx1
Accession Numbers
Essential gene? Not available question?
Stock # R3935 (G1)
Quality Score 133
Status Not validated
Chromosome X
Chromosomal Location 92330113-92341963 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92340975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 554 (L554Q)
Ref Sequence ENSEMBL: ENSMUSP00000109580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046565] [ENSMUST00000113947]
AlphaFold O35085
Predicted Effect probably damaging
Transcript: ENSMUST00000046565
AA Change: L554Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049039
Gene: ENSMUSG00000035277
AA Change: L554Q

DomainStartEndE-ValueType
low complexity region 81 97 N/A INTRINSIC
low complexity region 99 139 N/A INTRINSIC
low complexity region 143 154 N/A INTRINSIC
coiled coil region 221 253 N/A INTRINSIC
low complexity region 267 286 N/A INTRINSIC
HOX 330 392 9.11e-30 SMART
low complexity region 426 465 N/A INTRINSIC
low complexity region 488 503 N/A INTRINSIC
Pfam:OAR 527 547 9.9e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113947
AA Change: L554Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109580
Gene: ENSMUSG00000035277
AA Change: L554Q

DomainStartEndE-ValueType
low complexity region 81 97 N/A INTRINSIC
low complexity region 99 139 N/A INTRINSIC
low complexity region 143 154 N/A INTRINSIC
coiled coil region 221 253 N/A INTRINSIC
low complexity region 267 286 N/A INTRINSIC
HOX 330 392 9.11e-30 SMART
low complexity region 426 465 N/A INTRINSIC
low complexity region 488 503 N/A INTRINSIC
Pfam:OAR 528 546 4.4e-11 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transcription factor that plays an important role in the development of forebrain. Male mice lacking this gene have smaller brains, olfactory bulbs and testes, and die within half a day after birth. Mice lacking this gene specifically in ganglionic eminence-derived neurons, including cortical interneurons, develop seizures. Mutations in this gene have been demonstrated to cause mouse phenotypes resembling human X-linked lissencephaly and mental retardation with epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Males hemizygous for targeted null mutations die perinatally. Male mice hemizygous for various alleles with point mutations or triple repeat expansion exhibit defective GABAergic neuron migration and numbers, seizures, and/or behavioral defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz2b A G 2: 59,743,105 (GRCm39) V1622A possibly damaging Het
Bbof1 A G 12: 84,457,984 (GRCm39) D83G probably damaging Het
Ccdc47 T C 11: 106,092,823 (GRCm39) probably benign Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Dsc1 T A 18: 20,230,298 (GRCm39) T336S probably benign Het
Elk3 A G 10: 93,101,035 (GRCm39) S239P possibly damaging Het
Fbll1 T A 11: 35,688,475 (GRCm39) I263F probably damaging Het
Fbxw8 T G 5: 118,233,783 (GRCm39) I283L probably benign Het
Fcgbp T C 7: 27,774,824 (GRCm39) F133L probably benign Het
Gpr176 A G 2: 118,109,777 (GRCm39) V494A probably benign Het
Gpr85 A G 6: 13,836,044 (GRCm39) F287L probably benign Het
Hoxd11 A G 2: 74,514,376 (GRCm39) N302S probably benign Het
Iqgap1 T G 7: 80,393,585 (GRCm39) Y664S possibly damaging Het
Kansl1 A T 11: 104,234,369 (GRCm39) D712E possibly damaging Het
Kif1b T C 4: 149,321,617 (GRCm39) N1101D probably benign Het
Kyat1 A G 2: 30,075,761 (GRCm39) L376P probably damaging Het
Lztr1 T A 16: 17,340,059 (GRCm39) Y93* probably null Het
Nrip1 A G 16: 76,091,323 (GRCm39) M78T possibly damaging Het
P4hb A C 11: 120,453,235 (GRCm39) H440Q probably benign Het
Pbsn T C X: 76,891,702 (GRCm39) T32A probably damaging Het
Prg4 A G 1: 150,333,908 (GRCm39) I152T possibly damaging Het
Prss36 A G 7: 127,533,780 (GRCm39) L8P probably damaging Het
Prune2 T C 19: 17,177,150 (GRCm39) V2930A probably damaging Het
Ptchd4 G C 17: 42,814,380 (GRCm39) L760F possibly damaging Het
Rbms3 A G 9: 116,465,459 (GRCm39) L163P probably damaging Het
Scn1a T C 2: 66,158,120 (GRCm39) I418V probably damaging Het
Sf3a1 T A 11: 4,130,024 (GRCm39) probably null Het
Sirpb1b T A 3: 15,613,843 (GRCm39) T80S probably benign Het
Slc16a7 C A 10: 125,066,712 (GRCm39) R309L probably damaging Het
Slc35f1 C T 10: 52,984,314 (GRCm39) T358I probably damaging Het
Slmap T C 14: 26,180,570 (GRCm39) E411G probably benign Het
Ssu72 C T 4: 155,789,876 (GRCm39) S13L probably benign Het
Sult2b1 C T 7: 45,391,640 (GRCm39) V49M probably benign Het
Tmem80 T C 7: 140,913,938 (GRCm39) Y30H probably damaging Het
Other mutations in Arx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3936:Arx UTSW X 92,340,975 (GRCm39) missense probably damaging 1.00
Z1176:Arx UTSW X 92,332,790 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACAGGCTCTTTTCCACTATGGC -3'
(R):5'- AGAACTGCCTTGTCCGCTTC -3'

Sequencing Primer
(F):5'- TGACCAGCGCGTCGACTG -3'
(R):5'- TTCCAAGCTGCTGCGAAG -3'
Posted On 2015-04-17