Incidental Mutation 'R3712:Alx4'
ID 259645
Institutional Source Beutler Lab
Gene Symbol Alx4
Ensembl Gene ENSMUSG00000040310
Gene Name aristaless-like homeobox 4
Synonyms Aristaless-like 4
MMRRC Submission 040705-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.646) question?
Stock # R3712 (G1)
Quality Score 165
Status Validated
Chromosome 2
Chromosomal Location 93472779-93511686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93473134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 44 (G44D)
Ref Sequence ENSEMBL: ENSMUSP00000047962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042078] [ENSMUST00000111254]
AlphaFold O35137
Predicted Effect possibly damaging
Transcript: ENSMUST00000042078
AA Change: G44D

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310
AA Change: G44D

DomainStartEndE-ValueType
low complexity region 91 108 N/A INTRINSIC
HOX 202 264 1.11e-28 SMART
low complexity region 302 319 N/A INTRINSIC
Pfam:OAR 375 393 1.5e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111254
AA Change: G44D

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106885
Gene: ENSMUSG00000040310
AA Change: G44D

DomainStartEndE-ValueType
low complexity region 91 108 N/A INTRINSIC
HOX 202 264 1.11e-28 SMART
Meta Mutation Damage Score 0.1130 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, mental retardation, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
PHENOTYPE: Depending on genetic background mutant mice may show preaxial polydactyly and other skeletal alterations, transitory alopecia, ventral body wall defects and male sterility. Homozygous mice of one allele die prenatally. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Spontaneous(1) Chemically induced(3)
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik C A 16: 88,424,411 (GRCm39) V27F unknown Het
Akr1c20 T C 13: 4,560,222 (GRCm39) E152G probably damaging Het
Arhgap31 T A 16: 38,422,895 (GRCm39) E1057V possibly damaging Het
Arhgef26 A T 3: 62,331,050 (GRCm39) D588V probably damaging Het
Bag2 T A 1: 33,785,997 (GRCm39) E108D probably benign Het
Ccdc162 C T 10: 41,463,375 (GRCm39) V183I probably benign Het
Ccdc83 A G 7: 89,885,563 (GRCm39) probably benign Het
Ccnyl1 G A 1: 64,753,827 (GRCm39) E137K probably damaging Het
Celsr2 T C 3: 108,308,155 (GRCm39) T1849A probably benign Het
Cep192 C A 18: 67,953,400 (GRCm39) D472E probably benign Het
Cep57l1 A G 10: 41,619,110 (GRCm39) Y86H probably damaging Het
Cep95 G T 11: 106,702,112 (GRCm39) E370* probably null Het
Cldn10 A G 14: 119,092,522 (GRCm39) T41A probably damaging Het
Clptm1l T A 13: 73,764,157 (GRCm39) Y426N probably benign Het
Dipk1b T C 2: 26,522,650 (GRCm39) L33S possibly damaging Het
Eps15 T C 4: 109,166,374 (GRCm39) V89A probably damaging Het
Fam53b A G 7: 132,361,654 (GRCm39) S125P probably damaging Het
Fbxo44 A T 4: 148,240,461 (GRCm39) W256R probably benign Het
Gnl2 T C 4: 124,940,067 (GRCm39) V313A probably damaging Het
Hyal4 A G 6: 24,756,513 (GRCm39) R244G probably damaging Het
Irf6 G T 1: 192,844,931 (GRCm39) W134L probably benign Het
Kcnu1 A G 8: 26,371,448 (GRCm39) T286A probably damaging Het
Lpcat2 T C 8: 93,644,798 (GRCm39) V529A possibly damaging Het
Lrfn2 A G 17: 49,378,188 (GRCm39) E423G possibly damaging Het
Lrp8 G T 4: 107,705,499 (GRCm39) R209L probably benign Het
Mgll T C 6: 88,741,570 (GRCm39) probably benign Het
Mix23 T C 16: 35,901,775 (GRCm39) probably null Het
Mta3 A G 17: 84,070,417 (GRCm39) I193V probably damaging Het
Nedd4l G A 18: 65,342,790 (GRCm39) V909I possibly damaging Het
Or10al5 T A 17: 38,063,271 (GRCm39) C175* probably null Het
Or3a1d A T 11: 74,238,023 (GRCm39) I129N probably damaging Het
Or5p66 A T 7: 107,885,663 (GRCm39) Y223* probably null Het
Or6c206 A T 10: 129,097,093 (GRCm39) K88* probably null Het
Orc1 T C 4: 108,461,218 (GRCm39) V526A probably damaging Het
Pard3b T C 1: 62,383,137 (GRCm39) S744P probably damaging Het
Pcnx3 G A 19: 5,733,367 (GRCm39) Q155* probably null Het
Pcnx3 C G 19: 5,733,368 (GRCm39) L1F probably null Het
Pdcd11 T A 19: 47,115,684 (GRCm39) probably benign Het
Pi4k2a G A 19: 42,079,131 (GRCm39) R64Q probably damaging Het
Pigt A G 2: 164,343,565 (GRCm39) D347G probably benign Het
Rbm27 T C 18: 42,425,177 (GRCm39) probably benign Het
Rpl7a-ps10 A G 9: 97,061,926 (GRCm39) E232G probably damaging Het
Rprd2 A G 3: 95,671,872 (GRCm39) L1177P probably damaging Het
Rrn3 T A 16: 13,601,959 (GRCm39) L71* probably null Het
Sbspon A G 1: 15,962,669 (GRCm39) C70R probably damaging Het
Smtn A T 11: 3,482,865 (GRCm39) probably null Het
Son A G 16: 91,453,614 (GRCm39) D787G probably damaging Het
Sphkap C T 1: 83,254,833 (GRCm39) S972N probably benign Het
Spopl C T 2: 23,427,392 (GRCm39) R221Q probably damaging Het
Srp14 A C 2: 118,309,440 (GRCm39) L58V probably null Het
Sun2 A G 15: 79,612,114 (GRCm39) S522P possibly damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trdn T C 10: 33,033,162 (GRCm39) I129T probably benign Het
Trpv3 A G 11: 73,169,780 (GRCm39) K117R probably benign Het
Ubqlnl A T 7: 103,798,345 (GRCm39) I384N probably benign Het
Ush2a G A 1: 188,542,489 (GRCm39) G3352S probably benign Het
Vmn1r59 A T 7: 5,457,637 (GRCm39) I41K probably damaging Het
Vmn2r125 T A 4: 156,702,419 (GRCm39) Y68* probably null Het
Zpld1 A T 16: 55,046,799 (GRCm39) L390* probably null Het
Other mutations in Alx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01872:Alx4 APN 2 93,507,818 (GRCm39) missense probably benign 0.10
goofy UTSW 2 93,505,714 (GRCm39) missense probably damaging 1.00
Luxoid UTSW 2 93,505,657 (GRCm39) missense probably damaging 1.00
PIT4519001:Alx4 UTSW 2 93,505,773 (GRCm39) missense probably benign 0.00
R0367:Alx4 UTSW 2 93,498,953 (GRCm39) missense probably damaging 1.00
R0436:Alx4 UTSW 2 93,498,702 (GRCm39) nonsense probably null
R0864:Alx4 UTSW 2 93,473,200 (GRCm39) missense probably damaging 1.00
R1913:Alx4 UTSW 2 93,505,732 (GRCm39) missense probably damaging 1.00
R4619:Alx4 UTSW 2 93,473,106 (GRCm39) missense probably damaging 1.00
R5018:Alx4 UTSW 2 93,507,764 (GRCm39) missense probably damaging 0.99
R5227:Alx4 UTSW 2 93,507,725 (GRCm39) missense probably damaging 1.00
R6505:Alx4 UTSW 2 93,498,904 (GRCm39) missense probably damaging 1.00
R7173:Alx4 UTSW 2 93,473,202 (GRCm39) missense possibly damaging 0.82
R7792:Alx4 UTSW 2 93,473,056 (GRCm39) missense probably damaging 1.00
R8209:Alx4 UTSW 2 93,505,696 (GRCm39) missense possibly damaging 0.68
R8424:Alx4 UTSW 2 93,507,814 (GRCm39) missense probably benign
R8697:Alx4 UTSW 2 93,505,657 (GRCm39) missense probably damaging 1.00
R8884:Alx4 UTSW 2 93,473,355 (GRCm39) missense possibly damaging 0.69
R9218:Alx4 UTSW 2 93,473,172 (GRCm39) missense possibly damaging 0.78
R9674:Alx4 UTSW 2 93,507,858 (GRCm39) missense probably damaging 1.00
Z1177:Alx4 UTSW 2 93,473,001 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TTCTTTCTCAAGGCCAGCTG -3'
(R):5'- TCTGCAAGTAGAGATGCGC -3'

Sequencing Primer
(F):5'- TTCTCAAGGCCAGCTGTAGGG -3'
(R):5'- TAGAGATGCGCAGGCGGC -3'
Posted On 2015-01-23