Incidental Mutation 'R9218:Alx4'
ID 699292
Institutional Source Beutler Lab
Gene Symbol Alx4
Ensembl Gene ENSMUSG00000040310
Gene Name aristaless-like homeobox 4
Synonyms Aristaless-like 4
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.646) question?
Stock # R9218 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 93472779-93511686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93473172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 57 (F57I)
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: F57I

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047962
Gene: ENSMUSG00000040310
AA Change: F57I

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: F57I

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106885
Gene: ENSMUSG00000040310
AA Change: F57I

DomainStartEndE-ValueType
low complexity region 91 108 N/A INTRINSIC
HOX 202 264 1.11e-28 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (57/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,610,460 (GRCm39) T378A probably damaging Het
Abcb4 A G 5: 8,977,960 (GRCm39) M513V probably benign Het
Abhd18 T C 3: 40,871,201 (GRCm39) probably null Het
Adamtsl4 A T 3: 95,588,404 (GRCm39) Y561* probably null Het
Ap3b1 A G 13: 94,584,959 (GRCm39) probably null Het
Arsj A C 3: 126,232,114 (GRCm39) N287H probably benign Het
Bltp3a T A 17: 28,114,529 (GRCm39) C1387S probably benign Het
Cabp4 T A 19: 4,188,693 (GRCm39) probably null Het
Cdcp3 C T 7: 130,863,728 (GRCm39) H1244Y unknown Het
Cdh6 T C 15: 13,057,556 (GRCm39) N255S probably null Het
Ctrb1 C T 8: 112,416,140 (GRCm39) V49M probably damaging Het
Cts3 A G 13: 61,716,583 (GRCm39) S18P possibly damaging Het
Dcst1 A T 3: 89,272,412 (GRCm39) I17N probably benign Het
Dennd5a G A 7: 109,507,592 (GRCm39) H823Y probably damaging Het
Dmrt2 T G 19: 25,651,066 (GRCm39) L84R possibly damaging Het
Dock9 G T 14: 121,905,871 (GRCm39) T93K probably damaging Het
Fsip2 C T 2: 82,823,062 (GRCm39) P6265L probably damaging Het
Fxn T A 19: 24,239,388 (GRCm39) K168M probably damaging Het
Hc A G 2: 34,922,203 (GRCm39) L541P probably damaging Het
Hsd3b5 T C 3: 98,526,354 (GRCm39) H364R probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Inf2 G A 12: 112,567,858 (GRCm39) D163N possibly damaging Het
Iqcd C T 5: 120,738,707 (GRCm39) P175L possibly damaging Het
Iqck C T 7: 118,540,902 (GRCm39) A267V probably damaging Het
Kcnh1 A T 1: 192,135,938 (GRCm39) N66I unknown Het
Kif16b T A 2: 142,541,583 (GRCm39) E1239V possibly damaging Het
Mctp1 A G 13: 76,871,816 (GRCm39) D362G possibly damaging Het
Muc5ac T A 7: 141,361,098 (GRCm39) S1470T probably damaging Het
Neb A G 2: 52,183,638 (GRCm39) probably null Het
Odc1 T A 12: 17,598,312 (GRCm39) L151* probably null Het
Or4e1 A T 14: 52,700,788 (GRCm39) V226E probably damaging Het
Or51f23c-ps1 T C 7: 102,431,373 (GRCm39) I230T possibly damaging Het
Otof T A 5: 30,542,469 (GRCm39) Q693L probably benign Het
Pitpnm2 G A 5: 124,265,344 (GRCm39) S753F probably damaging Het
Pkd1l3 C A 8: 110,382,128 (GRCm39) S1632* probably null Het
Pkhd1l1 A G 15: 44,384,122 (GRCm39) T1171A possibly damaging Het
Plpp2 A G 10: 79,366,501 (GRCm39) F104L probably damaging Het
Pmaip1 A G 18: 66,596,370 (GRCm39) R80G probably damaging Het
Pms2 G A 5: 143,867,945 (GRCm39) V850I probably benign Het
Psmd5 G T 2: 34,747,794 (GRCm39) Q288K probably benign Het
Rab37 G A 11: 115,051,475 (GRCm39) R194H probably damaging Het
Sds C T 5: 120,621,677 (GRCm39) A273V probably damaging Het
Sema4f A G 6: 82,890,480 (GRCm39) S776P probably benign Het
Sh3tc2 T C 18: 62,101,101 (GRCm39) C65R probably benign Het
Siglece C T 7: 43,307,162 (GRCm39) R275H possibly damaging Het
Slc6a12 G A 6: 121,335,623 (GRCm39) A318T probably damaging Het
Smcr8 A T 11: 60,670,705 (GRCm39) I618L probably benign Het
Stt3a A G 9: 36,670,556 (GRCm39) F72L probably damaging Het
Tecpr1 T C 5: 144,154,049 (GRCm39) K135E possibly damaging Het
Tmem62 A G 2: 120,835,224 (GRCm39) I516M probably benign Het
Tnpo2 C A 8: 85,776,609 (GRCm39) H439N possibly damaging Het
Tut4 A T 4: 108,370,083 (GRCm39) K661* probably null Het
Txlnb C T 10: 17,718,570 (GRCm39) S467F probably damaging Het
Tyw5 G A 1: 57,435,948 (GRCm39) P81S probably damaging Het
Vamp2 A G 11: 68,980,585 (GRCm39) D51G possibly damaging Het
Vmn1r220 T A 13: 23,368,609 (GRCm39) Y29F probably benign Het
Vmn2r80 A G 10: 79,030,270 (GRCm39) T699A possibly damaging Het
Vps9d1 G A 8: 123,977,674 (GRCm39) T87I probably benign Het
Zfhx3 T C 8: 109,520,501 (GRCm39) V541A probably benign Het
Zmym4 A T 4: 126,809,415 (GRCm39) L295Q 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
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
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
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'- TTCTCAAGGCCAGCTGTAGG -3'
(R):5'- TCTGCAAGTAGAGATGCGC -3'

Sequencing Primer
(F):5'- AACTCCTAGCCAAGGCGCG -3'
(R):5'- TAGAGATGCGCAGGCGGC -3'
Posted On 2022-02-07