Incidental Mutation 'PIT4449001:Gm5168'
ID 555759
Institutional Source Beutler Lab
Gene Symbol Gm5168
Ensembl Gene ENSMUSG00000079655
Gene Name predicted gene 5168
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # PIT4449001 (G1)
Quality Score 221.999
Status Not validated
Chromosome X
Chromosomal Location 25983514-26006341 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25994840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 129 (R129Q)
Ref Sequence ENSEMBL: ENSMUSP00000086568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089165] [ENSMUST00000168002]
AlphaFold Q4KL04
Predicted Effect probably null
Transcript: ENSMUST00000089165
AA Change: R129Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086568
Gene: ENSMUSG00000079655
AA Change: R129Q

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Pfam:Cor1 123 209 6e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168002
AA Change: R129Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127894
Gene: ENSMUSG00000079655
AA Change: R129Q

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Pfam:Cor1 127 209 1.8e-10 PFAM
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 84,694,611 (GRCm39) N125S probably benign Het
BC048671 T A 6: 90,282,145 (GRCm39) L101I probably damaging Het
Camta1 A G 4: 151,216,043 (GRCm39) L959P probably benign Het
Cfap91 T C 16: 38,148,720 (GRCm39) E236G probably damaging Het
Cfh C A 1: 140,040,303 (GRCm39) V598F probably damaging Het
Cyp2j7 G T 4: 96,103,575 (GRCm39) T320K probably damaging Het
Ddr1 A G 17: 35,998,141 (GRCm39) I468T possibly damaging Het
Dhx15 A G 5: 52,318,300 (GRCm39) V510A probably damaging Het
Dpp4 T A 2: 62,186,988 (GRCm39) K507N probably benign Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gabbr1 G A 17: 37,367,242 (GRCm39) V373I probably damaging Het
Gak A T 5: 108,728,791 (GRCm39) S1049T probably benign Het
Gipr C T 7: 18,894,543 (GRCm39) R253H probably benign Het
Gm3685 T A 14: 7,043,960 (GRCm38) M73L probably benign Het
Kcnh1 T A 1: 192,100,992 (GRCm39) V555D probably damaging Het
Kif26b T C 1: 178,745,651 (GRCm39) S1916P probably damaging Het
Lingo4 T C 3: 94,309,239 (GRCm39) V59A probably benign Het
Mroh8 T A 2: 157,067,454 (GRCm39) Q635L probably damaging Het
Msh6 T A 17: 88,293,616 (GRCm39) D790E probably damaging Het
Nrxn1 A T 17: 90,905,007 (GRCm39) W809R probably damaging Het
Or5ac19 C A 16: 59,089,493 (GRCm39) C179F probably damaging Het
Polr3d T C 14: 70,676,903 (GRCm39) H397R probably benign Het
Pwp2 G A 10: 78,014,304 (GRCm39) T432I probably benign Het
Rad21 G C 15: 51,836,639 (GRCm39) F177L probably benign Het
Rnf182 G A 13: 43,822,153 (GRCm39) V235I probably benign Het
Scn11a C T 9: 119,599,014 (GRCm39) C1172Y probably damaging Het
Sh2b3 A G 5: 121,966,742 (GRCm39) L124P possibly damaging Het
Six2 T C 17: 85,992,906 (GRCm39) N199S probably benign Het
Slc5a3 A G 16: 91,874,702 (GRCm39) D253G probably benign Het
Synm A G 7: 67,385,025 (GRCm39) M879T probably benign Het
Tasp1 A G 2: 139,752,455 (GRCm39) I328T possibly damaging Het
Tbrg4 T C 11: 6,569,689 (GRCm39) Q309R probably damaging Het
Tmtc2 A G 10: 105,139,465 (GRCm39) L687P probably damaging Het
Trgc3 A T 13: 19,447,532 (GRCm39) R162* probably null Het
Tufm T C 7: 126,086,621 (GRCm39) M1T probably null Het
Vmn2r116 A C 17: 23,607,921 (GRCm39) L496F probably benign Het
Vmn2r75 C T 7: 85,814,791 (GRCm39) C234Y probably damaging Het
Wars2 G T 3: 99,112,595 (GRCm39) V162L possibly damaging Het
Zc3h11a A T 1: 133,552,349 (GRCm39) V586D probably benign Het
Zdhhc5 A T 2: 84,520,571 (GRCm39) N535K probably damaging Het
Zfp52 T C 17: 21,777,478 (GRCm39) Y38H probably damaging Het
Zfp729b T C 13: 67,739,542 (GRCm39) M908V probably benign Het
Zfp772 T C 7: 7,207,350 (GRCm39) I114V probably benign Het
Other mutations in Gm5168
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02049:Gm5168 APN X 25,999,005 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTTTACAAAGTAAGGATGCTGGGG -3'
(R):5'- CTGCTTTAAAACCTAATGTTGGCAC -3'

Sequencing Primer
(F):5'- AGCTTTTGTCCTACAAGCAGG -3'
(R):5'- GCACTATGCCTGAATGATCAC -3'
Posted On 2019-06-07