Incidental Mutation 'R7106:Lhx1'
ID 551190
Institutional Source Beutler Lab
Gene Symbol Lhx1
Ensembl Gene ENSMUSG00000018698
Gene Name LIM homeobox protein 1
Synonyms Lim1
MMRRC Submission 045198-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7106 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 84409110-84416361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84412903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 128 (N128D)
Ref Sequence ENSEMBL: ENSMUSP00000018842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018842] [ENSMUST00000092827] [ENSMUST00000184646]
AlphaFold P63006
Predicted Effect probably benign
Transcript: ENSMUST00000018842
AA Change: N128D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000018842
Gene: ENSMUSG00000018698
AA Change: N128D

DomainStartEndE-ValueType
LIM 3 54 5.51e-17 SMART
LIM 62 117 4.24e-18 SMART
low complexity region 137 156 N/A INTRINSIC
HOX 180 242 1.33e-22 SMART
low complexity region 315 327 N/A INTRINSIC
low complexity region 349 367 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092827
AA Change: N84D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090503
Gene: ENSMUSG00000018698
AA Change: N84D

DomainStartEndE-ValueType
LIM 18 73 4.24e-18 SMART
low complexity region 93 112 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184646
AA Change: N37D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000138899
Gene: ENSMUSG00000018698
AA Change: N37D

DomainStartEndE-ValueType
low complexity region 46 65 N/A INTRINSIC
HOX 89 151 6.8e-25 SMART
low complexity region 224 236 N/A INTRINSIC
low complexity region 258 276 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted null mutations are small, fail to develop head structures anterior to rhombomere 3 in the hindbrain, lack kidneys and gonads, and show aberrant trajectories of limb motor axons. Most mutants die around embryonic day 10. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob T C 4: 49,541,258 (GRCm39) Y138C probably damaging Het
Ano7 A C 1: 93,302,705 (GRCm39) probably null Het
Arvcf T A 16: 18,217,799 (GRCm39) V497E probably damaging Het
Atad2 A G 15: 57,980,162 (GRCm39) probably null Het
Brinp1 C T 4: 68,747,615 (GRCm39) A163T probably benign Het
Catsperd C A 17: 56,965,070 (GRCm39) probably null Het
Ccm2l A G 2: 152,912,571 (GRCm39) H70R possibly damaging Het
Cgnl1 G A 9: 71,633,015 (GRCm39) T112I probably benign Het
Chid1 T C 7: 141,102,573 (GRCm39) H220R probably benign Het
Clca3a1 A G 3: 144,733,190 (GRCm39) V106A probably damaging Het
Cldn23 A C 8: 36,293,069 (GRCm39) S140A probably benign Het
Dennd2c T C 3: 103,038,893 (GRCm39) S14P possibly damaging Het
Det1 T C 7: 78,493,212 (GRCm39) D264G probably damaging Het
Dmwd T C 7: 18,814,454 (GRCm39) V368A probably damaging Het
Dnah11 T C 12: 117,924,884 (GRCm39) K3362E probably benign Het
Dnah8 T C 17: 30,960,152 (GRCm39) F2208L probably damaging Het
Dnaja3 T C 16: 4,523,798 (GRCm39) I477T probably benign Het
Dnmt3a A G 12: 3,947,591 (GRCm39) K482E probably damaging Het
Dock7 A G 4: 98,855,563 (GRCm39) I1493T unknown Het
Ehbp1l1 A G 19: 5,768,765 (GRCm39) V846A probably benign Het
Fbxl4 T A 4: 22,427,140 (GRCm39) probably null Het
Fgd2 T A 17: 29,595,944 (GRCm39) L534* probably null Het
Fgfr3 T C 5: 33,888,758 (GRCm39) V349A probably damaging Het
Gal3st1 A T 11: 3,948,509 (GRCm39) I239F probably damaging Het
Gpatch3 C A 4: 133,305,514 (GRCm39) H250N probably benign Het
Guca1b A T 17: 47,702,236 (GRCm39) K230* probably null Het
Itga3 G T 11: 94,946,699 (GRCm39) L737I probably benign Het
Kmt5c A G 7: 4,745,705 (GRCm39) K122E probably damaging Het
Kpna4 G A 3: 68,986,797 (GRCm39) Q531* probably null Het
Lctl A G 9: 64,040,119 (GRCm39) E410G probably benign Het
Lifr A G 15: 7,202,405 (GRCm39) N349D probably benign Het
Map2 G A 1: 66,449,903 (GRCm39) A209T possibly damaging Het
Mif4gd G A 11: 115,502,737 (GRCm39) A25V probably damaging Het
Mug2 T C 6: 122,059,680 (GRCm39) S1353P probably damaging Het
Myh9 A G 15: 77,659,321 (GRCm39) C931R probably benign Het
Nelfe T G 17: 35,071,395 (GRCm39) probably null Het
Nrf1 A G 6: 30,102,183 (GRCm39) S161G probably benign Het
Pik3c2a G A 7: 116,017,368 (GRCm39) Q130* probably null Het
Prex2 T A 1: 11,207,017 (GRCm39) M525K probably benign Het
Psme2 A G 14: 55,825,694 (GRCm39) S165P probably benign Het
Rapgef2 A G 3: 78,973,915 (GRCm39) F1477S probably benign Het
Rasef A T 4: 73,645,864 (GRCm39) C502S probably damaging Het
Rpap2 T A 5: 107,780,988 (GRCm39) L565* probably null Het
Sav1 A G 12: 70,031,390 (GRCm39) I44T probably damaging Het
Selp T A 1: 163,953,991 (GRCm39) I97N probably benign Het
Serpina1d A G 12: 103,731,980 (GRCm39) F293S probably benign Het
Sin3b T C 8: 73,450,765 (GRCm39) F65L possibly damaging Het
Sorcs3 G C 19: 48,694,402 (GRCm39) G559R probably damaging Het
Susd2 A T 10: 75,473,887 (GRCm39) D689E probably damaging Het
Tas1r2 A T 4: 139,389,360 (GRCm39) M448L probably benign Het
Tbc1d30 A T 10: 121,137,897 (GRCm39) I181N possibly damaging Het
Tcea3 A G 4: 135,998,679 (GRCm39) T318A probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Tpp1 A C 7: 105,399,118 (GRCm39) S153A possibly damaging Het
Trip13 C T 13: 74,062,651 (GRCm39) V387I probably benign Het
Ttn T C 2: 76,627,832 (GRCm39) I14704V probably benign Het
Uimc1 C A 13: 55,198,628 (GRCm39) C516F possibly damaging Het
Vit A G 17: 78,894,228 (GRCm39) N210S probably benign Het
Vmn1r22 G T 6: 57,877,296 (GRCm39) T227K probably damaging Het
Vmn2r5 A G 3: 64,399,104 (GRCm39) I625T probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign Het
Zfp384 T C 6: 125,001,222 (GRCm39) L98P probably benign Het
Zfp809 G T 9: 22,147,520 (GRCm39) K51N probably benign Het
Other mutations in Lhx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Lhx1 APN 11 84,410,478 (GRCm39) missense probably damaging 0.97
R1346:Lhx1 UTSW 11 84,412,905 (GRCm39) missense possibly damaging 0.55
R1565:Lhx1 UTSW 11 84,410,647 (GRCm39) missense probably benign 0.00
R1806:Lhx1 UTSW 11 84,414,967 (GRCm39) missense probably damaging 1.00
R2148:Lhx1 UTSW 11 84,410,647 (GRCm39) missense probably benign 0.00
R2449:Lhx1 UTSW 11 84,412,564 (GRCm39) missense probably damaging 1.00
R3721:Lhx1 UTSW 11 84,412,654 (GRCm39) missense probably damaging 1.00
R3793:Lhx1 UTSW 11 84,412,726 (GRCm39) missense probably benign 0.01
R4940:Lhx1 UTSW 11 84,410,735 (GRCm39) nonsense probably null
R5178:Lhx1 UTSW 11 84,411,214 (GRCm39) missense possibly damaging 0.69
R5877:Lhx1 UTSW 11 84,413,065 (GRCm39) missense probably damaging 1.00
R6366:Lhx1 UTSW 11 84,413,034 (GRCm39) missense probably damaging 1.00
R6551:Lhx1 UTSW 11 84,412,739 (GRCm39) missense probably benign 0.23
R7060:Lhx1 UTSW 11 84,411,108 (GRCm39) critical splice donor site probably null
R7133:Lhx1 UTSW 11 84,410,746 (GRCm39) missense probably benign 0.00
R7161:Lhx1 UTSW 11 84,410,698 (GRCm39) missense probably damaging 1.00
R7290:Lhx1 UTSW 11 84,412,703 (GRCm39) missense probably damaging 0.96
R8843:Lhx1 UTSW 11 84,410,455 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTGGCACTTTCAGAGTCCTTG -3'
(R):5'- GTTTCGGTACCAAATGCGCC -3'

Sequencing Primer
(F):5'- TGGCATCATCCTGCGATGGATC -3'
(R):5'- TACCAAATGCGCCGGTTGTG -3'
Posted On 2019-05-15