Incidental Mutation 'R9787:Gsx1'
ID 734394
Institutional Source Beutler Lab
Gene Symbol Gsx1
Ensembl Gene ENSMUSG00000053129
Gene Name GS homeobox 1
Synonyms Gsh-1, Gsh1
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # R9787 (G1)
Quality Score 147.008
Status Not validated
Chromosome 5
Chromosomal Location 147125506-147127757 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 147126677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 167 (S167P)
Ref Sequence ENSEMBL: ENSMUSP00000069728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065382]
AlphaFold P31315
Predicted Effect probably damaging
Transcript: ENSMUST00000065382
AA Change: S167P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069728
Gene: ENSMUSG00000053129
AA Change: S167P

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
low complexity region 67 79 N/A INTRINSIC
HOX 146 208 2.18e-27 SMART
low complexity region 212 222 N/A INTRINSIC
low complexity region 226 237 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele show partial neonatal and peri-weaning lethality, delayed eyelid opening, dwarfism, multiple hormone deficiencies, aberrant pituitary development, hypothalamic dysfunction, altered bone epiphyseal growth plates, low WBC counts, infertility and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,150,695 (GRCm39) T26A probably benign Het
Arhgap27 A G 11: 103,230,048 (GRCm39) S239P possibly damaging Het
Bambi T C 18: 3,511,515 (GRCm39) V112A possibly damaging Het
BC034090 T A 1: 155,117,955 (GRCm39) E54D possibly damaging Het
Cdin1 T A 2: 115,505,236 (GRCm39) L169Q probably damaging Het
Chst13 C T 6: 90,286,074 (GRCm39) R296H probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Ctbs T A 3: 146,160,109 (GRCm39) V46E probably damaging Het
Cyp2b9 A G 7: 25,900,259 (GRCm39) I356V probably benign Het
Dot1l A G 10: 80,600,472 (GRCm39) T40A probably benign Het
Dst C T 1: 34,219,524 (GRCm39) T1988M probably benign Het
Fam184a T A 10: 53,626,864 (GRCm39) D38V possibly damaging Het
Fank1 T A 7: 133,463,887 (GRCm39) F83I probably damaging Het
Fto T A 8: 92,211,886 (GRCm39) W404R probably damaging Het
Gabra4 T A 5: 71,791,004 (GRCm39) R279S possibly damaging Het
Garem2 C T 5: 30,319,219 (GRCm39) P227L probably damaging Het
Gfra4 C A 2: 130,884,600 (GRCm39) M1I probably null Het
Gin1 T A 1: 97,703,211 (GRCm39) H11Q probably damaging Het
Gli3 G A 13: 15,900,386 (GRCm39) G1258R probably damaging Het
Gtf2b AATCATC AATC 3: 142,477,178 (GRCm39) probably benign Het
Il7 G A 3: 7,641,171 (GRCm39) R82C probably damaging Het
Lair1 A T 7: 4,013,794 (GRCm39) V151E probably damaging Het
Lpar1 T C 4: 58,437,349 (GRCm39) D360G probably benign Het
Malrd1 T A 2: 15,625,401 (GRCm39) N345K unknown Het
Mbnl1 T A 3: 60,503,086 (GRCm39) N82K probably damaging Het
Mtdh C A 15: 34,123,844 (GRCm39) T357N probably benign Het
Muc6 T A 7: 141,227,748 (GRCm39) K1306* probably null Het
Nsd1 T A 13: 55,461,518 (GRCm39) C2685S probably benign Het
Optn T A 2: 5,036,150 (GRCm39) Q444L probably damaging Het
Or6a2 A T 7: 106,600,899 (GRCm39) L56H probably damaging Het
Pan2 T A 10: 128,144,223 (GRCm39) D157E probably benign Het
Pole G A 5: 110,465,866 (GRCm39) probably null Het
Stau2 A T 1: 16,530,595 (GRCm39) I108N unknown Het
Sugp2 A G 8: 70,695,428 (GRCm39) K134E probably benign Het
Tcaf3 C T 6: 42,574,024 (GRCm39) V63I probably benign Het
Tcf7 T A 11: 52,173,773 (GRCm39) probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tubb2b T C 13: 34,312,409 (GRCm39) D128G probably benign Het
Umodl1 A T 17: 31,178,324 (GRCm39) Q100L probably damaging Het
Unc79 T A 12: 103,112,620 (GRCm39) N2230K probably benign Het
Zc3hav1l T C 6: 38,272,101 (GRCm39) T223A probably benign Het
Zfhx4 G A 3: 5,455,506 (GRCm39) D1167N possibly damaging Het
Zfp36 A T 7: 28,077,344 (GRCm39) L200Q probably damaging Het
Zswim9 T A 7: 12,994,205 (GRCm39) L650F probably damaging Het
Other mutations in Gsx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Gsx1 APN 5 147,126,939 (GRCm39) missense probably benign 0.02
R0639:Gsx1 UTSW 5 147,126,756 (GRCm39) missense probably damaging 0.97
R1605:Gsx1 UTSW 5 147,126,738 (GRCm39) missense probably damaging 0.98
R7405:Gsx1 UTSW 5 147,125,943 (GRCm39) missense possibly damaging 0.93
R8730:Gsx1 UTSW 5 147,126,651 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTCAGCGGGAAATTAGGC -3'
(R):5'- AAGAGCACTTGCAGCCTTG -3'

Sequencing Primer
(F):5'- CCAAGGCTCAGAGGTTTGATGATC -3'
(R):5'- CGGTTCTGAAACCAGATCTT -3'
Posted On 2022-11-14