Incidental Mutation 'R5227:Alx4'
ID 402656
Institutional Source Beutler Lab
Gene Symbol Alx4
Ensembl Gene ENSMUSG00000040310
Gene Name aristaless-like homeobox 4
Synonyms Aristaless-like 4
MMRRC Submission 042800-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.656) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 93472779-93511686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93507725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 340 (V340D)
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: V340D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310
AA Change: V340D

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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V 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
R5018:Alx4 UTSW 2 93,507,764 (GRCm39) missense probably damaging 0.99
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'- AGAGCCCCTTCTATACCACTG -3'
(R):5'- TTCTGTCATGTGGCCCAAG -3'

Sequencing Primer
(F):5'- CCAGCTGGCCTATGACATC -3'
(R):5'- CTGTCATGTGGCCCAAGAGATG -3'
Posted On 2016-07-22