Incidental Mutation 'R1494:Gm37240'
ID 163802
Institutional Source Beutler Lab
Gene Symbol Gm37240
Ensembl Gene ENSMUSG00000102805
Gene Name predicted gene, 37240
Synonyms
MMRRC Submission 039545-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R1494 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 84403733-85794825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84434998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 104 (Y104N)
Ref Sequence ENSEMBL: ENSMUSP00000096588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098990] [ENSMUST00000107687] [ENSMUST00000143514] [ENSMUST00000154148]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000098990
AA Change: Y104N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096588
Gene: ENSMUSG00000074513
AA Change: Y104N

DomainStartEndE-ValueType
Blast:Arfaptin 1 32 9e-10 BLAST
Arfaptin 89 316 2.08e-122 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107687
AA Change: Y129N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103315
Gene: ENSMUSG00000074513
AA Change: Y129N

DomainStartEndE-ValueType
Blast:Arfaptin 1 32 1e-9 BLAST
Arfaptin 114 341 2.08e-122 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000143514
AA Change: Y136N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122964
Gene: ENSMUSG00000074513
AA Change: Y136N

DomainStartEndE-ValueType
Blast:Arfaptin 1 32 1e-9 BLAST
Arfaptin 121 348 2.08e-122 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000154148
AA Change: Y15N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805
AA Change: Y15N

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Meta Mutation Damage Score 0.7657 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.3%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,991 (GRCm39) E92G probably benign Het
Abca13 C T 11: 9,416,429 (GRCm39) Q4064* probably null Het
Abca14 G A 7: 119,815,524 (GRCm39) M257I probably benign Het
Acsm2 T A 7: 119,174,855 (GRCm39) C207S probably damaging Het
Actr3 A G 1: 125,344,018 (GRCm39) I67T probably benign Het
Adcy7 T C 8: 89,046,835 (GRCm39) V606A probably benign Het
Ahnak2 G A 12: 112,751,570 (GRCm39) S54F probably damaging Het
Ano6 T C 15: 95,870,388 (GRCm39) S848P probably damaging Het
Atg3 C T 16: 44,992,123 (GRCm39) probably benign Het
Atp8b1 T A 18: 64,697,597 (GRCm39) S416C probably damaging Het
C2cd5 A G 6: 142,987,072 (GRCm39) probably benign Het
Capn11 A T 17: 45,954,735 (GRCm39) V134E probably damaging Het
Ccnd3 A G 17: 47,909,033 (GRCm39) probably null Het
Chaf1b T A 16: 93,684,998 (GRCm39) V149E probably damaging Het
Col5a2 T A 1: 45,542,074 (GRCm39) M1L unknown Het
Copa T C 1: 171,931,694 (GRCm39) I315T probably benign Het
Cyp3a57 A G 5: 145,318,077 (GRCm39) M353V probably damaging Het
Dcaf6 T C 1: 165,160,942 (GRCm39) M828V probably damaging Het
Dock2 T A 11: 34,232,761 (GRCm39) K1080* probably null Het
Dock6 A G 9: 21,726,038 (GRCm39) V1424A probably benign Het
Foxa1 T C 12: 57,588,984 (GRCm39) D412G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Galnt9 T A 5: 110,736,196 (GRCm39) S171T probably damaging Het
Glt6d1 A G 2: 25,684,260 (GRCm39) Y249H probably damaging Het
Gpx8 C T 13: 113,182,149 (GRCm39) E95K possibly damaging Het
Grm1 T C 10: 10,565,450 (GRCm39) T953A probably benign Het
Helz T C 11: 107,494,889 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,647 (GRCm39) Y108C probably damaging Het
Kcnj13 A T 1: 87,316,939 (GRCm39) L58Q probably damaging Het
Mfsd14b A T 13: 65,243,485 (GRCm39) V53D probably damaging Het
Mrps7 G C 11: 115,494,952 (GRCm39) probably benign Het
Mug1 G A 6: 121,856,259 (GRCm39) G1013D probably damaging Het
Or52h7 T A 7: 104,214,038 (GRCm39) Y203* probably null Het
Or6c8 A T 10: 128,915,484 (GRCm39) M116K probably damaging Het
Pax6 T C 2: 105,521,955 (GRCm39) I19T probably benign Het
Pde8b G A 13: 95,184,304 (GRCm39) R416C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pygl G A 12: 70,246,504 (GRCm39) R348W probably damaging Het
Ralgapa1 T A 12: 55,731,309 (GRCm39) D1874V probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sncaip T C 18: 53,001,958 (GRCm39) S160P probably damaging Het
Sptbn4 A G 7: 27,133,719 (GRCm39) V79A probably damaging Het
Sptlc3 A T 2: 139,431,480 (GRCm39) Y334F possibly damaging Het
Supt16 A G 14: 52,409,916 (GRCm39) Y764H probably benign Het
Syne3 A T 12: 104,921,841 (GRCm39) V438E possibly damaging Het
Tagap1 T C 17: 7,224,210 (GRCm39) D162G probably damaging Het
Terb1 T C 8: 105,225,122 (GRCm39) probably benign Het
Themis3 C A 17: 66,866,949 (GRCm39) R97L probably benign Het
Tnk1 T A 11: 69,747,372 (GRCm39) E86D possibly damaging Het
Tnpo3 A G 6: 29,557,043 (GRCm39) L53P probably damaging Het
Trpc6 G A 9: 8,658,305 (GRCm39) R725K probably benign Het
Ttll11 T G 2: 35,685,391 (GRCm39) T566P probably damaging Het
Unc5c A T 3: 141,533,310 (GRCm39) T779S possibly damaging Het
Zfp42 A G 8: 43,748,638 (GRCm39) C288R possibly damaging Het
Zfp763 G A 17: 33,240,477 (GRCm39) T52I probably damaging Het
Other mutations in Gm37240
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1236:Gm37240 UTSW 3 84,435,003 (GRCm39) missense probably benign 0.04
R3746:Gm37240 UTSW 3 84,426,919 (GRCm39) missense probably benign 0.26
R5362:Gm37240 UTSW 3 84,423,000 (GRCm39) missense probably damaging 1.00
R5653:Gm37240 UTSW 3 84,405,102 (GRCm39) missense probably damaging 0.98
R5870:Gm37240 UTSW 3 84,597,828 (GRCm39) intron probably benign
R5913:Gm37240 UTSW 3 84,874,905 (GRCm39) intron probably benign
R6163:Gm37240 UTSW 3 84,423,092 (GRCm39) missense probably damaging 1.00
R7210:Gm37240 UTSW 3 84,405,114 (GRCm39) missense probably benign 0.02
R7378:Gm37240 UTSW 3 84,879,944 (GRCm39) splice site probably null
R7769:Gm37240 UTSW 3 84,417,232 (GRCm39) missense possibly damaging 0.81
R8748:Gm37240 UTSW 3 84,405,045 (GRCm39) makesense probably null
R9019:Gm37240 UTSW 3 84,426,946 (GRCm39) missense probably damaging 1.00
R9164:Gm37240 UTSW 3 84,417,248 (GRCm39) missense possibly damaging 0.95
R9542:Gm37240 UTSW 3 84,417,196 (GRCm39) missense probably benign
R9666:Gm37240 UTSW 3 84,422,952 (GRCm39) missense probably damaging 1.00
R9739:Gm37240 UTSW 3 84,417,113 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGAGGGAATGAGTAATGACCTTAGCAGT -3'
(R):5'- CAATCTGTCACACAGTGGGAACCTTTA -3'

Sequencing Primer
(F):5'- cacacacacatacacacacac -3'
(R):5'- CAGTTTGAATAGCATCAGGCTTCG -3'
Posted On 2014-03-28