Incidental Mutation 'R0367:Alx4'
ID 30259
Institutional Source Beutler Lab
Gene Symbol Alx4
Ensembl Gene ENSMUSG00000040310
Gene Name aristaless-like homeobox 4
Synonyms Aristaless-like 4
MMRRC Submission 038573-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.656) question?
Stock # R0367 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 93472779-93511686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93498953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 228 (D228E)
Ref Sequence ENSEMBL: ENSMUSP00000106885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042078] [ENSMUST00000111254] [ENSMUST00000184931]
AlphaFold O35137
Predicted Effect probably damaging
Transcript: ENSMUST00000042078
AA Change: D228E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310
AA Change: D228E

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 damaging
Transcript: ENSMUST00000111254
AA Change: D228E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106885
Gene: ENSMUSG00000040310
AA Change: D228E

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,049,961 (GRCm39) S12P probably damaging Het
Antxr2 T C 5: 98,177,455 (GRCm39) E71G probably benign Het
Arhgap19 C A 19: 41,790,417 (GRCm39) G17V probably benign Het
C8a A C 4: 104,719,791 (GRCm39) probably null Het
Ccne2 T A 4: 11,201,426 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,425 (GRCm39) C317Y probably damaging Het
Cend1 C A 7: 141,007,808 (GRCm39) R4L probably damaging Het
Cfap44 T C 16: 44,253,839 (GRCm39) probably null Het
Cpt1c T C 7: 44,608,999 (GRCm39) N774S probably benign Het
Csmd1 C T 8: 15,967,270 (GRCm39) D3198N probably damaging Het
Dapk2 C T 9: 66,176,168 (GRCm39) S323F probably damaging Het
Ddx60 T G 8: 62,470,783 (GRCm39) I1425R possibly damaging Het
Edem1 T A 6: 108,823,713 (GRCm39) Y370N probably damaging Het
Elp5 A G 11: 69,865,967 (GRCm39) V103A probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fat1 A G 8: 45,477,350 (GRCm39) D2132G probably damaging Het
Fat2 A T 11: 55,182,919 (GRCm39) probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gp2 C T 7: 119,053,791 (GRCm39) D57N probably damaging Het
Gpr161 T C 1: 165,144,805 (GRCm39) probably benign Het
Gstcd G A 3: 132,692,138 (GRCm39) probably benign Het
Hipk3 A T 2: 104,261,594 (GRCm39) C980* probably null Het
Htr2a A T 14: 74,879,649 (GRCm39) I93L probably damaging Het
Itpr2 T G 6: 146,135,506 (GRCm39) K1775N probably damaging Het
Kcnt1 G A 2: 25,797,640 (GRCm39) V864I probably damaging Het
Kcnt2 A T 1: 140,278,963 (GRCm39) Y38F probably damaging Het
Limch1 G A 5: 67,015,297 (GRCm39) probably null Het
Lmtk2 C T 5: 144,111,103 (GRCm39) R608C possibly damaging Het
Loxhd1 C T 18: 77,513,453 (GRCm39) probably benign Het
Lpin2 A T 17: 71,522,017 (GRCm39) E17V probably damaging Het
Lrrc34 A T 3: 30,684,142 (GRCm39) F342I probably benign Het
Lyzl6 A G 11: 103,527,578 (GRCm39) probably null Het
Map3k4 A C 17: 12,476,928 (GRCm39) probably benign Het
Mocs3 C T 2: 168,073,602 (GRCm39) P350S probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or1ad8 A G 11: 50,897,904 (GRCm39) Y35C probably damaging Het
Or4c52 A C 2: 89,846,116 (GRCm39) I281L probably damaging Het
Or7e168 G T 9: 19,719,839 (GRCm39) S75I probably damaging Het
Pcare G T 17: 72,057,471 (GRCm39) F735L probably damaging Het
Pdzrn4 A G 15: 92,655,538 (GRCm39) E477G possibly damaging Het
Rab5b C T 10: 128,518,772 (GRCm39) R120Q probably benign Het
Rims2 G T 15: 39,326,011 (GRCm39) probably null Het
Samd4b C T 7: 28,122,873 (GRCm39) A62T probably damaging Het
Scamp1 T C 13: 94,347,088 (GRCm39) N192S probably benign Het
Scnn1g T C 7: 121,345,802 (GRCm39) probably benign Het
Setd1a T G 7: 127,387,358 (GRCm39) probably benign Het
Setdb1 A G 3: 95,257,192 (GRCm39) probably benign Het
Slc2a7 T C 4: 150,250,823 (GRCm39) S415P probably benign Het
Sp140l2 G T 1: 85,247,824 (GRCm39) probably benign Het
Strip2 A T 6: 29,937,650 (GRCm39) Y526F possibly damaging Het
Styxl2 T A 1: 165,928,332 (GRCm39) T427S probably benign Het
Syne2 A G 12: 75,926,951 (GRCm39) D69G probably damaging Het
Syt13 C A 2: 92,745,596 (GRCm39) A22E probably benign Het
Tm9sf2 T C 14: 122,392,780 (GRCm39) F432S probably benign Het
Vmn2r49 A T 7: 9,710,357 (GRCm39) W792R probably damaging Het
Zfp292 T C 4: 34,808,227 (GRCm39) S1606G probably benign Het
Zfp518a A T 19: 40,900,665 (GRCm39) H198L probably damaging 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
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
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'- CTCAGTGTGCCTCTGGGATGTAAAG -3'
(R):5'- TGTGCTCAGTTGGCTAGACTGGAC -3'

Sequencing Primer
(F):5'- CTGGGATGTAAAGTATCCTCTCAC -3'
(R):5'- gactggactgtgctggg -3'
Posted On 2013-04-24