Incidental Mutation 'R1423:Hesx1'
ID 161184
Institutional Source Beutler Lab
Gene Symbol Hesx1
Ensembl Gene ENSMUSG00000040726
Gene Name homeobox gene expressed in ES cells
Synonyms Rpx, HES-1
MMRRC Submission 039479-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1423 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 26716375-26724286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26723876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 153 (Q153L)
Ref Sequence ENSEMBL: ENSMUSP00000152952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035433] [ENSMUST00000224331]
AlphaFold Q61658
Predicted Effect probably null
Transcript: ENSMUST00000035433
AA Change: Q153L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041999
Gene: ENSMUSG00000040726
AA Change: Q153L

DomainStartEndE-ValueType
HOX 108 170 2.68e-27 SMART
Predicted Effect probably null
Transcript: ENSMUST00000224331
AA Change: Q153L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6566 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13d A G 19: 4,331,097 (GRCm39) S64P probably damaging Het
Armh4 T C 14: 49,988,896 (GRCm39) E691G probably damaging Het
Bag4 T C 8: 26,258,302 (GRCm39) S342G probably damaging Het
Bbs1 G A 19: 4,944,291 (GRCm39) T446I probably benign Het
Bmyc A G 2: 25,597,236 (GRCm39) D100G probably damaging Het
Btbd7 T C 12: 102,751,734 (GRCm39) D1010G possibly damaging Het
Celsr3 A T 9: 108,704,104 (GRCm39) T196S probably benign Het
Crtam C A 9: 40,884,918 (GRCm39) R161L probably benign Het
Cyp11b2 C A 15: 74,724,979 (GRCm39) G290V probably damaging Het
Edc4 C T 8: 106,617,843 (GRCm39) probably benign Het
Exd1 A T 2: 119,370,494 (GRCm39) probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fbxo16 T C 14: 65,524,623 (GRCm39) probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gabrb2 A G 11: 42,420,298 (GRCm39) N173S probably damaging Het
Gm13741 A T 2: 87,486,674 (GRCm39) I197K possibly damaging Het
Helb T A 10: 119,944,871 (GRCm39) I222F probably damaging Het
Isca1 T C 13: 59,910,593 (GRCm39) N33S probably benign Het
Itsn2 T C 12: 4,723,572 (GRCm39) V1142A probably damaging Het
Lama5 T G 2: 179,837,434 (GRCm39) T984P probably damaging Het
Lima1 T A 15: 99,717,626 (GRCm39) K127* probably null Het
Lmbrd1 T A 1: 24,785,959 (GRCm39) V418D probably damaging Het
Mertk T C 2: 128,620,883 (GRCm39) V575A probably damaging Het
Mrps28 T C 3: 8,965,184 (GRCm39) H85R probably benign Het
Mrtfb T C 16: 13,230,105 (GRCm39) V930A possibly damaging Het
Naip2 G A 13: 100,291,386 (GRCm39) T1184M probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Naip2 TCCC TCC 13: 100,291,355 (GRCm39) probably benign Het
Naip2 G A 13: 100,291,380 (GRCm39) S1186F possibly damaging Het
Nhlrc3 A T 3: 53,369,836 (GRCm39) L45H probably damaging Het
Or52e5 T G 7: 104,719,226 (GRCm39) M184R probably damaging Het
Or52u1 C T 7: 104,237,682 (GRCm39) R224* probably null Het
Or8s16 T C 15: 98,211,324 (GRCm39) T36A probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdhb15 A T 18: 37,606,975 (GRCm39) D69V probably damaging Het
Pitpnm1 G A 19: 4,162,392 (GRCm39) R1074H probably damaging Het
Plb1 A G 5: 32,450,601 (GRCm39) N381D probably benign Het
Poc1b T C 10: 98,988,725 (GRCm39) S247P probably damaging Het
Prl7b1 T A 13: 27,786,110 (GRCm39) N186I probably damaging Het
Riok1 T C 13: 38,233,090 (GRCm39) M241T probably damaging Het
Tigit T C 16: 43,469,395 (GRCm39) E232G probably benign Het
Tpst2 T A 5: 112,455,488 (GRCm39) L9Q probably benign Het
Ttbk1 T C 17: 46,757,080 (GRCm39) probably benign Het
Vmn1r3 A T 4: 3,185,231 (GRCm39) N25K probably damaging Het
Vmn2r121 T A X: 123,039,602 (GRCm39) H522L possibly damaging Het
Vmn2r15 T C 5: 109,441,093 (GRCm39) Y255C 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
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
R5082:Hesx1 UTSW 14 26,722,731 (GRCm39) missense probably benign 0.06
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
(F):5'- AGCCTCCGAAACACGCTCTTTG -3'
(R):5'- TCGCCATTAGAAACTGTGATTCTCTACG -3'

Sequencing Primer
(F):5'- AGTTTAACAGTCTCTGGGCAACC -3'
(R):5'- AAACTGTGATTCTCTACGGGACC -3'
Posted On 2014-03-14