Incidental Mutation 'R1562:Liat1'
ID 170697
Institutional Source Beutler Lab
Gene Symbol Liat1
Ensembl Gene ENSMUSG00000053783
Gene Name ligand of ATE1
Synonyms 1700016K19Rik
MMRRC Submission 039601-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1562 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75890738-75894395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75894024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 134 (I134F)
Ref Sequence ENSEMBL: ENSMUSP00000063358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066408]
AlphaFold Q810M6
Predicted Effect probably damaging
Transcript: ENSMUST00000066408
AA Change: I134F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063358
Gene: ENSMUSG00000053783
AA Change: I134F

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
low complexity region 49 67 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,331 (GRCm39) I2201V probably benign Het
Adam22 T C 5: 8,145,007 (GRCm39) N817S probably damaging Het
Alox12 C A 11: 70,140,991 (GRCm39) R348L probably damaging Het
Asb17 A T 3: 153,559,143 (GRCm39) T285S probably benign Het
Casp4 T C 9: 5,324,733 (GRCm39) S182P possibly damaging Het
Cenpe T C 3: 134,944,155 (GRCm39) M985T possibly damaging Het
Clcn1 C T 6: 42,277,169 (GRCm39) P420L probably benign Het
Coro2a T C 4: 46,548,917 (GRCm39) I126V probably benign Het
Cubn T C 2: 13,432,778 (GRCm39) Y1181C probably damaging Het
Cyp2d22 A T 15: 82,258,179 (GRCm39) L147Q probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Fat2 T C 11: 55,200,800 (GRCm39) N758S probably damaging Het
Fbxo43 T C 15: 36,163,162 (GRCm39) D15G probably damaging Het
Flt3 T C 5: 147,281,323 (GRCm39) E803G probably damaging Het
Folr1 T G 7: 101,507,801 (GRCm39) D213A probably damaging Het
Fus T C 7: 127,579,094 (GRCm39) V359A probably damaging Het
Gabrb3 C T 7: 57,415,262 (GRCm39) R111* probably null Het
Gm17324 T C 9: 78,355,964 (GRCm39) probably benign Het
Hormad2 A T 11: 4,358,848 (GRCm39) probably null Het
Ifi27l2b T A 12: 103,422,780 (GRCm39) probably null Het
Isg20 G T 7: 78,569,891 (GRCm39) C176F probably benign Het
Katnip C A 7: 125,442,020 (GRCm39) S643Y probably damaging Het
Krt15 C A 11: 100,024,007 (GRCm39) V346L probably benign Het
Med13l A G 5: 118,876,584 (GRCm39) K920R probably damaging Het
Mlh3 A T 12: 85,313,694 (GRCm39) F831I probably benign Het
Mtmr9 A G 14: 63,771,786 (GRCm39) S267P probably benign Het
Mybpc1 C T 10: 88,389,193 (GRCm39) A406T probably damaging Het
Myh1 T C 11: 67,102,196 (GRCm39) M829T probably benign Het
Myo10 A G 15: 25,780,497 (GRCm39) Q209R possibly damaging Het
Nceh1 T A 3: 27,293,701 (GRCm39) V153D probably damaging Het
Oog3 A T 4: 143,889,169 (GRCm39) I3N probably damaging Het
Or1j19 A G 2: 36,676,696 (GRCm39) D53G probably damaging Het
Or2ag1b C T 7: 106,288,187 (GRCm39) M250I probably benign Het
Or4c103 T A 2: 88,513,423 (GRCm39) I218F probably benign Het
Or8c20 C A 9: 38,260,658 (GRCm39) S87* probably null Het
Pcnt G A 10: 76,203,164 (GRCm39) T2646M probably benign Het
Phf10 A T 17: 15,166,512 (GRCm39) C453S probably damaging Het
Plcb4 T A 2: 135,812,367 (GRCm39) probably null Het
Plekhh1 A G 12: 79,123,482 (GRCm39) H1185R probably benign Het
Prmt3 G T 7: 49,476,602 (GRCm39) V404L probably benign Het
Ptprb T A 10: 116,175,372 (GRCm39) D1122E probably benign Het
Rars1 A G 11: 35,711,921 (GRCm39) probably null Het
Rasa2 G T 9: 96,427,803 (GRCm39) N687K possibly damaging Het
Rbm11 A G 16: 75,393,423 (GRCm39) T40A probably damaging Het
Rem2 T C 14: 54,713,775 (GRCm39) V16A probably benign Het
Rlf A T 4: 121,007,588 (GRCm39) M574K possibly damaging Het
Rpap3 A T 15: 97,592,098 (GRCm39) V186D possibly damaging Het
Sertad3 G A 7: 27,176,048 (GRCm39) E161K probably damaging Het
Sh3gl2 T C 4: 85,304,130 (GRCm39) S278P probably benign Het
Strn3 T C 12: 51,680,401 (GRCm39) T400A probably benign Het
Sycp2 A T 2: 178,024,178 (GRCm39) I402N probably damaging Het
Synj1 C T 16: 90,784,290 (GRCm39) V283I probably benign Het
Tas2r108 A G 6: 40,471,000 (GRCm39) probably null Het
Ttpal A G 2: 163,457,323 (GRCm39) N265S probably benign Het
Unc80 G A 1: 66,677,116 (GRCm39) G2015D probably damaging Het
Upf1 C T 8: 70,796,017 (GRCm39) W138* probably null Het
Vmn1r25 T G 6: 57,955,786 (GRCm39) M168L probably benign Het
Vmn2r18 A T 5: 151,510,301 (GRCm39) F24Y probably benign Het
Vmn2r4 G T 3: 64,296,865 (GRCm39) T640N probably damaging Het
Wdr75 T A 1: 45,843,030 (GRCm39) probably null Het
Zdbf2 T G 1: 63,342,747 (GRCm39) S375R possibly damaging Het
Zfp648 A G 1: 154,080,138 (GRCm39) Q99R probably benign Het
Zfp964 C T 8: 70,115,654 (GRCm39) P85S probably benign Het
Other mutations in Liat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Liat1 APN 11 75,894,192 (GRCm39) missense probably benign 0.00
IGL01089:Liat1 APN 11 75,894,163 (GRCm39) missense possibly damaging 0.82
IGL02112:Liat1 APN 11 75,894,214 (GRCm39) missense probably benign 0.00
IGL02152:Liat1 APN 11 75,894,051 (GRCm39) missense probably benign 0.27
IGL02189:Liat1 APN 11 75,891,056 (GRCm39) missense probably damaging 1.00
R0025:Liat1 UTSW 11 75,890,941 (GRCm39) small deletion probably benign
R2068:Liat1 UTSW 11 75,891,077 (GRCm39) missense possibly damaging 0.48
R5027:Liat1 UTSW 11 75,891,047 (GRCm39) missense probably damaging 1.00
R5663:Liat1 UTSW 11 75,891,047 (GRCm39) missense probably damaging 1.00
R6242:Liat1 UTSW 11 75,890,981 (GRCm39) missense probably damaging 0.99
R7381:Liat1 UTSW 11 75,893,833 (GRCm39) missense probably damaging 1.00
R9092:Liat1 UTSW 11 75,893,887 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- TTCCCAGCAATGGTGACATCCCAG -3'
(R):5'- TGAGAGGTAGGGCAGATTCTCCAC -3'

Sequencing Primer
(F):5'- AATGGTGACATCCCAGGTTCC -3'
(R):5'- GGCAGATTCTCCACGCTCTC -3'
Posted On 2014-04-13