Incidental Mutation 'R5082:Hesx1'
ID 387212
Institutional Source Beutler Lab
Gene Symbol Hesx1
Ensembl Gene ENSMUSG00000040726
Gene Name homeobox gene expressed in ES cells
Synonyms Rpx, HES-1
MMRRC Submission 042671-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5082 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 26716375-26724286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26722731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 19 (C19R)
Ref Sequence ENSEMBL: ENSMUSP00000152952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035433] [ENSMUST00000224331]
AlphaFold Q61658
Predicted Effect probably benign
Transcript: ENSMUST00000035433
AA Change: C19R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000041999
Gene: ENSMUSG00000040726
AA Change: C19R

HOX 108 170 2.68e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224331
AA Change: C19R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show significant perinatal and postnatal lethality. Deficiency is manifested as brain, endocrine/exocrine and sensory organ developmental abnormalities in many embryos. Most mice surviving past birth display eye defects such as anophthalmia or microphthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,022,694 (GRCm39) M1015L probably benign Het
Aftph T C 11: 20,677,100 (GRCm39) S170G probably damaging Het
Aox4 C T 1: 58,270,642 (GRCm39) P274S possibly damaging Het
Ash1l G A 3: 88,873,541 (GRCm39) R108Q probably damaging Het
Aspm T A 1: 139,406,414 (GRCm39) L1767* probably null Het
Baz2b T A 2: 59,731,835 (GRCm39) K2068* probably null Het
Bcl9 A T 3: 97,117,218 (GRCm39) V492D probably damaging Het
Bicc1 G T 10: 70,776,352 (GRCm39) H782Q probably benign Het
Cabin1 T A 10: 75,574,164 (GRCm39) I640F probably damaging Het
Ccng1 A G 11: 40,643,015 (GRCm39) V144A possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Ddx1 G T 12: 13,270,436 (GRCm39) C668* probably null Het
Dhx58 G A 11: 100,587,802 (GRCm39) S585L probably benign Het
Dnttip2 A T 3: 122,069,590 (GRCm39) K268N probably damaging Het
Ecd C T 14: 20,374,436 (GRCm39) probably null Het
Entpd1 A G 19: 40,713,473 (GRCm39) probably null Het
Erlin2 T C 8: 27,523,435 (GRCm39) V224A probably damaging Het
Exoc3l4 A G 12: 111,394,424 (GRCm39) S515G probably benign Het
Fcho1 T C 8: 72,169,829 (GRCm39) D98G possibly damaging Het
Fhod1 T A 8: 106,057,145 (GRCm39) D943V probably damaging Het
Gm10322 A T 10: 59,452,090 (GRCm39) E69V possibly damaging Het
Gm14295 T A 2: 176,499,210 (GRCm39) L19* probably null Het
Gm7347 T A 5: 26,262,372 (GRCm39) R50* probably null Het
Hgh1 T A 15: 76,253,752 (GRCm39) F199L probably benign Het
Irak2 T C 6: 113,649,805 (GRCm39) F147L probably damaging Het
Kif22 G A 7: 126,632,549 (GRCm39) R254C possibly damaging Het
Klhl9 A T 4: 88,639,622 (GRCm39) S206R probably damaging Het
Maip1 T C 1: 57,451,010 (GRCm39) probably null Het
Mcm9 T A 10: 53,414,156 (GRCm39) E308V possibly damaging Het
Mfsd13b A T 7: 120,598,201 (GRCm39) N369I possibly damaging Het
Mga T A 2: 119,733,825 (GRCm39) H224Q probably damaging Het
Mtss1 A T 15: 58,842,868 (GRCm39) W115R probably damaging Het
Myo3b T C 2: 70,088,374 (GRCm39) V851A probably benign Het
Nectin2 A T 7: 19,472,049 (GRCm39) D113E probably damaging Het
Notch2 G A 3: 98,007,690 (GRCm39) C480Y probably damaging Het
Or6b6 G A 7: 106,570,871 (GRCm39) R227C probably benign Het
Or8b55 T C 9: 38,727,441 (GRCm39) I214T possibly damaging Het
Pfdn1 G T 18: 36,537,466 (GRCm39) N111K probably damaging Het
Pfkl A T 10: 77,832,242 (GRCm39) V283E probably damaging Het
Plbd2 G T 5: 120,629,249 (GRCm39) S305* probably null Het
Prom1 T C 5: 44,158,174 (GRCm39) probably null Het
Ptbp2 T A 3: 119,546,613 (GRCm39) M90L probably benign Het
Rai1 G A 11: 60,076,745 (GRCm39) E270K possibly damaging Het
Rbbp6 G A 7: 122,599,925 (GRCm39) probably benign Het
Reln T C 5: 22,101,075 (GRCm39) M3399V probably benign Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Sh2d2a A G 3: 87,759,091 (GRCm39) D231G probably benign Het
Smn1 T C 13: 100,273,890 (GRCm39) probably benign Het
Snrnp200 C T 2: 127,068,290 (GRCm39) Q877* probably null Het
Taf2 G T 15: 54,923,441 (GRCm39) H279N probably benign Het
Tnfaip3 T C 10: 18,881,032 (GRCm39) Y345C probably damaging Het
Vmn2r68 C T 7: 84,883,076 (GRCm39) M225I probably benign Het
Vps13a A T 19: 16,722,257 (GRCm39) W352R probably damaging Het
Other mutations in Hesx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Hesx1 APN 14 26,723,481 (GRCm39) missense probably benign 0.01
PIT4504001:Hesx1 UTSW 14 26,723,838 (GRCm39) missense probably benign 0.02
R0715:Hesx1 UTSW 14 26,722,809 (GRCm39) missense probably damaging 1.00
R1423:Hesx1 UTSW 14 26,723,876 (GRCm39) missense probably null 1.00
R1997:Hesx1 UTSW 14 26,723,340 (GRCm39) missense probably damaging 0.97
R2129:Hesx1 UTSW 14 26,722,802 (GRCm39) missense possibly damaging 0.63
R2155:Hesx1 UTSW 14 26,723,434 (GRCm39) missense probably benign 0.15
R2973:Hesx1 UTSW 14 26,722,599 (GRCm39) start gained probably benign
R7181:Hesx1 UTSW 14 26,722,678 (GRCm39) start codon destroyed probably null 0.99
R7992:Hesx1 UTSW 14 26,723,379 (GRCm39) missense probably benign 0.00
R8438:Hesx1 UTSW 14 26,723,460 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06