Incidental Mutation 'R5018:Alx4'
ID 389042
Institutional Source Beutler Lab
Gene Symbol Alx4
Ensembl Gene ENSMUSG00000040310
Gene Name aristaless-like homeobox 4
Synonyms Aristaless-like 4
MMRRC Submission 042609-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.656) question?
Stock # R5018 (G1)
Quality Score 189
Status Validated
Chromosome 2
Chromosomal Location 93472779-93511686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93507764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 353 (G353V)
Ref Sequence ENSEMBL: ENSMUSP00000047962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042078] [ENSMUST00000111254] [ENSMUST00000184931]
AlphaFold O35137
Predicted Effect probably damaging
Transcript: ENSMUST00000042078
AA Change: G353V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310
AA Change: G353V

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 probably benign
Transcript: ENSMUST00000111254
SMART Domains Protein: ENSMUSP00000106885
Gene: ENSMUSG00000040310

DomainStartEndE-ValueType
low complexity region 91 108 N/A INTRINSIC
HOX 202 264 1.11e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184931
SMART Domains Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Exostosin 100 380 1.4e-57 PFAM
Pfam:Glyco_transf_64 456 559 9.5e-31 PFAM
Meta Mutation Damage Score 0.2430 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 98% (49/50)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,809,228 (GRCm39) F245I probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Apol7b A G 15: 77,308,916 (GRCm39) F61L probably benign Het
Aunip T A 4: 134,250,928 (GRCm39) probably null Het
Bfsp1 C A 2: 143,704,802 (GRCm39) R17L possibly damaging Het
Birc6 T A 17: 74,947,054 (GRCm39) D2926E probably damaging Het
Dmwd A G 7: 18,812,044 (GRCm39) D166G probably damaging Het
Dnah10 T C 5: 124,839,260 (GRCm39) S1233P possibly damaging Het
Dnah11 G T 12: 118,094,463 (GRCm39) N868K probably benign Het
Eea1 T C 10: 95,846,899 (GRCm39) V393A probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Flacc1 A G 1: 58,730,109 (GRCm39) V67A probably benign Het
Fyttd1 A G 16: 32,722,787 (GRCm39) probably null Het
Hal T C 10: 93,343,413 (GRCm39) probably null Het
Hhat A T 1: 192,277,346 (GRCm39) L371Q probably damaging Het
Hpse2 A G 19: 43,373,263 (GRCm39) F122S possibly damaging Het
Kif21b A G 1: 136,099,972 (GRCm39) I1509V probably benign Het
Klhl20 T C 1: 160,929,156 (GRCm39) D334G probably damaging Het
Macf1 C T 4: 123,279,392 (GRCm39) D3870N probably damaging Het
Nlrc5 C T 8: 95,252,080 (GRCm39) A1867V probably damaging Het
Nr1h5 A G 3: 102,855,111 (GRCm39) L330P probably damaging Het
Or10g3b A C 14: 52,586,736 (GRCm39) C256G possibly damaging Het
Pcdh15 T G 10: 74,479,607 (GRCm39) S573A possibly damaging Het
Polr1c G T 17: 46,558,635 (GRCm39) probably benign Het
Scd4 T A 19: 44,326,048 (GRCm39) M134K probably benign Het
Sh3gl2 A G 4: 85,309,291 (GRCm39) probably benign Het
Sin3a T A 9: 57,018,175 (GRCm39) S865T probably benign Het
Slitrk3 G A 3: 72,957,845 (GRCm39) T309I probably benign Het
Sspo G A 6: 48,432,634 (GRCm39) E837K probably damaging Het
Stag1 A G 9: 100,833,672 (GRCm39) D1095G probably benign Het
Trat1 A T 16: 48,555,168 (GRCm39) L188* probably null Het
Ubn1 A G 16: 4,881,589 (GRCm39) D207G probably damaging Het
Ugp2 A G 11: 21,281,052 (GRCm39) Y219H probably damaging Het
Ugt2b1 G T 5: 87,073,821 (GRCm39) Y179* probably null Het
Vmn2r27 T A 6: 124,201,141 (GRCm39) D272V probably benign Het
Vmn2r3 T C 3: 64,178,774 (GRCm39) E497G probably benign Het
Vmn2r91 G T 17: 18,356,700 (GRCm39) C789F probably damaging Het
Zfp276 A G 8: 123,991,716 (GRCm39) probably benign 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
R3712:Alx4 UTSW 2 93,473,134 (GRCm39) missense possibly damaging 0.87
R4619:Alx4 UTSW 2 93,473,106 (GRCm39) missense probably damaging 1.00
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'- AGCTGGCCTATGACATCTCTC -3'
(R):5'- GGGATGACATCAGGAGTTGC -3'

Sequencing Primer
(F):5'- GATTCAGAACCCATCCTGGATTGG -3'
(R):5'- TGACATCAGGAGTTGCAGGAG -3'
Posted On 2016-06-06