Incidental Mutation 'R2083:AA986860'
ID 230123
Institutional Source Beutler Lab
Gene Symbol AA986860
Ensembl Gene ENSMUSG00000042510
Gene Name expressed sequence AA986860
Synonyms
MMRRC Submission 040088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2083 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 130659713-130672359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130668806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 58 (I58F)
Ref Sequence ENSEMBL: ENSMUSP00000046172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039323]
AlphaFold Q8BI29
Predicted Effect probably damaging
Transcript: ENSMUST00000039323
AA Change: I58F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046172
Gene: ENSMUSG00000042510
AA Change: I58F

DomainStartEndE-ValueType
Pfam:SARG 33 606 1e-235 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190859
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T A 5: 146,121,681 (GRCm39) M73L possibly damaging Het
Acsl3 A T 1: 78,677,528 (GRCm39) K507N probably damaging Het
Adcy3 T C 12: 4,223,512 (GRCm39) Y245H probably damaging Het
Adgra1 T C 7: 139,455,547 (GRCm39) S392P probably damaging Het
Ahnak C T 19: 8,988,921 (GRCm39) P3402S probably damaging Het
Ambra1 T A 2: 91,596,945 (GRCm39) I12N possibly damaging Het
Atp10b A G 11: 43,103,250 (GRCm39) T545A probably benign Het
Atxn2 G T 5: 121,922,069 (GRCm39) A638S probably benign Het
Cd109 T C 9: 78,574,575 (GRCm39) S520P probably damaging Het
Col6a3 T C 1: 90,709,733 (GRCm39) D1821G unknown Het
Cyp4a10 T C 4: 115,382,505 (GRCm39) V265A possibly damaging Het
Dmrtb1 C T 4: 107,540,809 (GRCm39) R184Q possibly damaging Het
Dnah7b A T 1: 46,280,227 (GRCm39) I2719F possibly damaging Het
En2 T C 5: 28,372,071 (GRCm39) S183P probably damaging Het
Etfb A G 7: 43,105,924 (GRCm39) T101A probably benign Het
Etl4 T A 2: 20,748,360 (GRCm39) S364T probably damaging Het
Gm17728 C A 17: 9,641,121 (GRCm39) S77Y possibly damaging Het
Golga4 A G 9: 118,361,658 (GRCm39) E221G probably damaging Het
Gpr37 T C 6: 25,688,416 (GRCm39) N227S possibly damaging Het
Insyn2b A G 11: 34,352,141 (GRCm39) D61G probably benign Het
Kctd1 A T 18: 15,107,112 (GRCm39) N784K possibly damaging Het
Klhl22 A G 16: 17,594,389 (GRCm39) T173A probably benign Het
Ly6e T A 15: 74,830,168 (GRCm39) C41S probably damaging Het
Mapkbp1 T C 2: 119,845,963 (GRCm39) L444P possibly damaging Het
Mkx A T 18: 6,992,855 (GRCm39) I143K probably damaging Het
Mlh3 A G 12: 85,315,815 (GRCm39) F124L probably benign Het
Nlrp1a A T 11: 71,015,046 (GRCm39) L68H possibly damaging Het
Obscn A C 11: 58,964,457 (GRCm39) Y726* probably null Het
Or4f59 C T 2: 111,872,898 (GRCm39) V160I probably benign Het
Or8d1 T G 9: 38,766,637 (GRCm39) V93G probably benign Het
Peak1 G A 9: 56,166,233 (GRCm39) S565L probably damaging Het
Pter T A 2: 12,983,247 (GRCm39) L84Q probably damaging Het
Ptpn4 A G 1: 119,615,489 (GRCm39) L555P possibly damaging Het
Rpp40 A T 13: 36,082,975 (GRCm39) M171K probably benign Het
Sacs A G 14: 61,443,955 (GRCm39) I2000M possibly damaging Het
Scn5a T C 9: 119,321,189 (GRCm39) I1458V probably benign Het
Slc38a4 T C 15: 96,906,874 (GRCm39) D288G probably benign Het
Slc8a2 T G 7: 15,868,440 (GRCm39) V224G probably damaging Het
Sptbn4 T C 7: 27,127,681 (GRCm39) E173G probably benign Het
Tas1r1 T A 4: 152,112,848 (GRCm39) H735L probably benign Het
Trps1 G T 15: 50,685,701 (GRCm39) Q155K probably damaging Het
Tspyl5 T C 15: 33,686,892 (GRCm39) H351R probably damaging Het
Ttf2 A T 3: 100,876,817 (GRCm39) D21E probably benign Het
Ttll7 A G 3: 146,635,859 (GRCm39) R398G possibly damaging Het
Tubgcp6 A T 15: 89,006,579 (GRCm39) Y148N probably damaging Het
Vmn1r8 T A 6: 57,013,325 (GRCm39) H125Q probably benign Het
Zfhx4 A G 3: 5,468,223 (GRCm39) T2794A possibly damaging Het
Zfp27 T C 7: 29,594,208 (GRCm39) I586V probably benign Het
Zfyve16 T C 13: 92,660,770 (GRCm39) D13G probably damaging Het
Other mutations in AA986860
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:AA986860 APN 1 130,670,573 (GRCm39) missense possibly damaging 0.69
IGL01761:AA986860 APN 1 130,670,459 (GRCm39) missense possibly damaging 0.70
IGL02557:AA986860 APN 1 130,670,444 (GRCm39) missense probably benign 0.02
IGL03003:AA986860 APN 1 130,671,509 (GRCm39) missense probably damaging 1.00
IGL02802:AA986860 UTSW 1 130,671,130 (GRCm39) missense probably benign 0.00
R0326:AA986860 UTSW 1 130,670,635 (GRCm39) missense possibly damaging 0.87
R0483:AA986860 UTSW 1 130,671,562 (GRCm39) missense probably damaging 1.00
R0906:AA986860 UTSW 1 130,665,430 (GRCm39) splice site probably benign
R0932:AA986860 UTSW 1 130,665,430 (GRCm39) splice site probably null
R1522:AA986860 UTSW 1 130,670,831 (GRCm39) missense probably damaging 1.00
R1762:AA986860 UTSW 1 130,665,425 (GRCm39) critical splice donor site probably null
R1874:AA986860 UTSW 1 130,670,428 (GRCm39) missense probably benign 0.06
R2091:AA986860 UTSW 1 130,670,906 (GRCm39) missense probably benign 0.01
R2093:AA986860 UTSW 1 130,671,041 (GRCm39) missense probably benign 0.13
R3546:AA986860 UTSW 1 130,668,926 (GRCm39) splice site probably benign
R3915:AA986860 UTSW 1 130,670,344 (GRCm39) missense probably benign
R4679:AA986860 UTSW 1 130,670,140 (GRCm39) missense possibly damaging 0.67
R4703:AA986860 UTSW 1 130,671,092 (GRCm39) missense probably benign 0.19
R4890:AA986860 UTSW 1 130,668,725 (GRCm39) splice site probably benign
R4988:AA986860 UTSW 1 130,670,447 (GRCm39) missense probably damaging 1.00
R5171:AA986860 UTSW 1 130,670,584 (GRCm39) missense probably benign 0.23
R5327:AA986860 UTSW 1 130,668,740 (GRCm39) missense probably damaging 1.00
R5424:AA986860 UTSW 1 130,670,678 (GRCm39) missense probably damaging 1.00
R5763:AA986860 UTSW 1 130,670,768 (GRCm39) missense possibly damaging 0.53
R5799:AA986860 UTSW 1 130,668,908 (GRCm39) nonsense probably null
R6247:AA986860 UTSW 1 130,670,780 (GRCm39) missense possibly damaging 0.78
R7124:AA986860 UTSW 1 130,670,624 (GRCm39) missense possibly damaging 0.67
R7747:AA986860 UTSW 1 130,671,284 (GRCm39) missense possibly damaging 0.60
Z1176:AA986860 UTSW 1 130,670,728 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- TTCAGAAGTTGGCAGAGCAG -3'
(R):5'- GAAGCCTCTTCTTGAGTCTGG -3'

Sequencing Primer
(F):5'- GAGCCAGGGAAAGCTTGCC -3'
(R):5'- CCCTTTTCTGCCTGGGAAATGTTTAG -3'
Posted On 2014-09-18