Incidental Mutation 'R2129:Hesx1'
ID 227875
Institutional Source Beutler Lab
Gene Symbol Hesx1
Ensembl Gene ENSMUSG00000040726
Gene Name homeobox gene expressed in ES cells
Synonyms Rpx, HES-1
MMRRC Submission 040132-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2129 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 26716375-26724286 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26722802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 42 (H42Q)
Ref Sequence ENSEMBL: ENSMUSP00000152952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035433] [ENSMUST00000224331]
AlphaFold Q61658
Predicted Effect possibly damaging
Transcript: ENSMUST00000035433
AA Change: H42Q

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041999
Gene: ENSMUSG00000040726
AA Change: H42Q

HOX 108 170 2.68e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000224331
AA Change: H42Q

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1299 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (91/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,066 (GRCm39) E249G possibly damaging Het
2610028H24Rik A G 10: 76,293,349 (GRCm39) M136V possibly damaging Het
4930523C07Rik A T 1: 159,902,945 (GRCm39) K72* probably null Het
Abhd14a A T 9: 106,318,064 (GRCm39) L125Q probably null Het
Abhd17b T A 19: 21,658,413 (GRCm39) probably null Het
Abo G A 2: 26,736,586 (GRCm39) T61I probably benign Het
Adamts15 T C 9: 30,815,799 (GRCm39) T686A probably benign Het
Adgrv1 A T 13: 81,705,199 (GRCm39) F1537Y probably damaging Het
Anxa2 A T 9: 69,383,410 (GRCm39) Y75F possibly damaging Het
Aqp3 T A 4: 41,098,061 (GRCm39) I17F probably benign Het
Aspm T C 1: 139,385,373 (GRCm39) V339A probably benign Het
Bri3bp T A 5: 125,528,735 (GRCm39) L48* probably null Het
Car7 T A 8: 105,275,605 (GRCm39) C185S possibly damaging Het
Casp8ap2 T C 4: 32,640,142 (GRCm39) Y399H probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chst10 A G 1: 38,904,776 (GRCm39) Y203H probably benign Het
Clca3a1 T C 3: 144,722,526 (GRCm39) D282G probably damaging Het
Coq3 T G 4: 21,900,342 (GRCm39) S190A probably benign Het
Crocc G A 4: 140,744,407 (GRCm39) R1830C probably damaging Het
Cygb A G 11: 116,540,668 (GRCm39) L106P probably damaging Het
Dab2 G T 15: 6,365,864 (GRCm39) E87* probably null Het
Dcst1 T A 3: 89,264,852 (GRCm39) I299F probably damaging Het
Dennd4a T G 9: 64,813,256 (GRCm39) probably null Het
Depdc7 A G 2: 104,558,518 (GRCm39) S168P probably benign Het
Dicer1 G A 12: 104,688,290 (GRCm39) T429I probably damaging Het
Dnah5 A G 15: 28,408,467 (GRCm39) Q3484R probably benign Het
Dock2 T C 11: 34,618,242 (GRCm39) M125V probably damaging Het
Dync2h1 A G 9: 7,175,289 (GRCm39) S107P possibly damaging Het
Emb T C 13: 117,404,082 (GRCm39) V278A probably damaging Het
Firrm T C 1: 163,794,026 (GRCm39) Y518C probably damaging Het
Foxk1 C A 5: 142,420,943 (GRCm39) S189* probably null Het
Galm T C 17: 80,490,647 (GRCm39) I268T probably benign Het
Gm5581 A C 6: 131,145,247 (GRCm39) noncoding transcript Het
Gpr6 G A 10: 40,947,168 (GRCm39) S138L possibly damaging Het
Hsp90b1 T C 10: 86,531,570 (GRCm39) D421G probably damaging Het
Kctd19 T C 8: 106,111,804 (GRCm39) T31A probably damaging Het
Kif1b G A 4: 149,272,097 (GRCm39) S1568L possibly damaging Het
Krtap19-3 T C 16: 88,674,863 (GRCm39) probably benign Het
Lin28a T A 4: 133,745,465 (GRCm39) I43F probably benign Het
Lrriq1 G A 10: 103,050,718 (GRCm39) T678I probably benign Het
Macf1 A G 4: 123,262,608 (GRCm39) probably benign Het
Madcam1 A G 10: 79,501,406 (GRCm39) E157G possibly damaging Het
Mctp1 A G 13: 76,972,941 (GRCm39) D648G probably damaging Het
Megf8 T C 7: 25,030,140 (GRCm39) L425P probably damaging Het
Mospd4 A G 18: 46,598,731 (GRCm39) noncoding transcript Het
Mybpc1 T G 10: 88,387,314 (GRCm39) T466P probably damaging Het
Myo10 T C 15: 25,781,885 (GRCm39) Y1127H probably benign Het
Myo18b A T 5: 112,978,944 (GRCm39) L1223Q probably damaging Het
Myo9b T C 8: 71,786,343 (GRCm39) Y670H probably damaging Het
Ndufaf4 G T 4: 24,898,608 (GRCm39) D55Y probably damaging Het
Neurod2 G T 11: 98,218,414 (GRCm39) A250E possibly damaging Het
Nherf1 A T 11: 115,067,270 (GRCm39) I174F probably damaging Het
Nipsnap1 C A 11: 4,838,932 (GRCm39) N119K probably benign Het
Npffr2 A T 5: 89,715,924 (GRCm39) I84F probably damaging Het
Or10ab4 T A 7: 107,655,111 (GRCm39) N307K probably benign Het
Or11h23 A G 14: 50,948,093 (GRCm39) Y102C probably damaging Het
Or2t48 T C 11: 58,420,437 (GRCm39) D125G probably damaging Het
Pald1 A G 10: 61,184,085 (GRCm39) probably null Het
Palld T C 8: 62,330,395 (GRCm39) S161G probably benign Het
Paqr9 T A 9: 95,443,122 (GRCm39) F371I probably benign Het
Pear1 A T 3: 87,665,666 (GRCm39) C120* probably null Het
Pla2g4e A T 2: 120,013,292 (GRCm39) F343I probably damaging Het
Plxdc2 A T 2: 16,516,902 (GRCm39) Y61F probably benign Het
Polh G A 17: 46,499,014 (GRCm39) Q234* probably null Het
Prkce T A 17: 86,803,463 (GRCm39) M454K possibly damaging Het
Proser1 C A 3: 53,385,366 (GRCm39) T416K probably benign Het
Prr14l G T 5: 32,989,172 (GRCm39) probably benign Het
Rabgap1l A T 1: 160,566,527 (GRCm39) D90E probably benign Het
Rp1l1 T A 14: 64,266,415 (GRCm39) V667D possibly damaging Het
Rpp40 A T 13: 36,082,604 (GRCm39) C256* probably null Het
Rps6ka5 A G 12: 100,644,797 (GRCm39) L51P probably damaging Het
Rtp2 C T 16: 23,746,457 (GRCm39) C78Y probably damaging Het
Ryr3 A G 2: 112,508,715 (GRCm39) probably benign Het
Slc10a6 A G 5: 103,756,922 (GRCm39) Y281H probably benign Het
Slc6a21 T G 7: 44,932,197 (GRCm39) probably null Het
Smo A G 6: 29,757,313 (GRCm39) Y476C probably damaging Het
Tacr3 A T 3: 134,560,621 (GRCm39) T187S probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tasp1 T C 2: 139,890,164 (GRCm39) K71E possibly damaging Het
Tg A G 15: 66,566,743 (GRCm39) I1264V probably benign Het
Tmem41a T C 16: 21,764,911 (GRCm39) probably null Het
Tmem63a A G 1: 180,793,105 (GRCm39) N459D probably benign Het
Ube2k A G 5: 65,752,269 (GRCm39) T151A probably damaging Het
Ubr1 T C 2: 120,773,034 (GRCm39) E402G probably benign Het
Ulk4 T A 9: 120,981,248 (GRCm39) I897F probably benign Het
Usp30 A G 5: 114,249,224 (GRCm39) E176G probably damaging Het
Utp20 A G 10: 88,649,917 (GRCm39) F431S probably damaging Het
Vmn1r206 T C 13: 22,804,782 (GRCm39) S142G probably benign Het
Wdr17 C T 8: 55,085,416 (GRCm39) V1236M probably damaging Het
Zbtb32 T C 7: 30,290,918 (GRCm39) K126E possibly damaging Het
Zeb1 A T 18: 5,767,681 (GRCm39) S731C possibly 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
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

Sequencing Primer
Posted On 2014-09-17