Incidental Mutation 'R0845:Gm8220'
ID 239223
Institutional Source Beutler Lab
Gene Symbol Gm8220
Ensembl Gene ENSMUSG00000091725
Gene Name predicted gene 8220
Synonyms
MMRRC Submission 039024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R0845 (G1)
Quality Score 30.5
Status Validated
Chromosome 14
Chromosomal Location 44523037-44528525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44524248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 71 (H71R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169601] [ENSMUST00000177877]
AlphaFold L7N2B0
Predicted Effect probably damaging
Transcript: ENSMUST00000164663
AA Change: H71R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131482
Gene: ENSMUSG00000091725
AA Change: H71R

DomainStartEndE-ValueType
Pfam:Takusan 57 137 3e-27 PFAM
coiled coil region 164 186 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169601
AA Change: H65R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129002
Gene: ENSMUSG00000091725
AA Change: H65R

DomainStartEndE-ValueType
Pfam:Takusan 50 130 2.6e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177877
SMART Domains Protein: ENSMUSP00000136414
Gene: ENSMUSG00000091725

DomainStartEndE-ValueType
Pfam:Takusan 7 46 4.4e-8 PFAM
coiled coil region 73 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228838
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 93.2%
Validation Efficiency 96% (45/47)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 G T 7: 28,612,855 (GRCm39) A116E probably damaging Het
Adamtsl3 A G 7: 82,225,204 (GRCm39) I338V probably damaging Het
Akap13 T G 7: 75,375,128 (GRCm39) V1920G probably damaging Het
Atp6v0d2 C T 4: 19,880,055 (GRCm39) V281I probably benign Het
AW209491 T G 13: 14,811,607 (GRCm39) S153R probably damaging Het
Brd7 A T 8: 89,069,395 (GRCm39) Y433* probably null Het
Bub1b A G 2: 118,440,457 (GRCm39) H187R probably damaging Het
Clstn2 T A 9: 97,452,681 (GRCm39) Q242L probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Comt T C 16: 18,226,711 (GRCm39) Y225C probably damaging Het
Ctbs T A 3: 146,160,862 (GRCm39) L143Q probably damaging Het
Ctsw T C 19: 5,515,489 (GRCm39) probably benign Het
Dhx16 T C 17: 36,194,194 (GRCm39) I435T probably damaging Het
Dmxl1 T C 18: 50,026,469 (GRCm39) F1859S probably damaging Het
Glud1 A G 14: 34,051,351 (GRCm39) probably benign Het
Gnb1l A G 16: 18,371,223 (GRCm39) E238G probably benign Het
H2-T23 T C 17: 36,341,475 (GRCm39) H332R probably benign Het
Itga5 T A 15: 103,259,196 (GRCm39) T744S probably benign Het
Larp1 A G 11: 57,938,576 (GRCm39) E453G probably benign Het
Lrrk2 C A 15: 91,640,165 (GRCm39) P1570Q probably benign Het
Lrsam1 C T 2: 32,843,455 (GRCm39) R150Q possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Msln T C 17: 25,969,770 (GRCm39) Y320C probably damaging Het
Mtbp T C 15: 55,426,486 (GRCm39) probably null Het
Muc5b A G 7: 141,404,183 (GRCm39) probably null Het
Mup21 A G 4: 62,068,547 (GRCm39) S40P probably damaging Het
Myh8 T C 11: 67,177,090 (GRCm39) V414A probably damaging Het
P2rx5 T C 11: 73,056,400 (GRCm39) I108T probably damaging Het
Paqr9 T C 9: 95,442,793 (GRCm39) L261P probably damaging Het
Pde5a A G 3: 122,522,980 (GRCm39) D29G probably benign Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pih1d1 A G 7: 44,809,106 (GRCm39) D230G probably benign Het
Pik3r1 G T 13: 101,822,772 (GRCm39) D643E probably benign Het
Rnf207 A G 4: 152,396,521 (GRCm39) probably benign Het
Septin9 T C 11: 117,247,151 (GRCm39) probably benign Het
Serinc1 A T 10: 57,401,479 (GRCm39) S105T probably benign Het
Slc8a1 A G 17: 81,745,177 (GRCm39) S676P probably benign Het
Srrm4 C T 5: 116,582,944 (GRCm39) probably null Het
Tcn2 T A 11: 3,869,349 (GRCm39) D391V probably benign Het
Tmem131 T C 1: 36,855,303 (GRCm39) T808A probably damaging Het
Ubqln3 G T 7: 103,791,275 (GRCm39) Q272K probably damaging Het
Unc79 T C 12: 103,139,703 (GRCm39) probably benign Het
Xpo6 G A 7: 125,728,715 (GRCm39) probably benign Het
Zfp667 A T 7: 6,309,091 (GRCm39) K586N possibly damaging Het
Other mutations in Gm8220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Gm8220 APN 14 44,525,628 (GRCm39) missense probably benign 0.34
IGL02998:Gm8220 APN 14 44,525,765 (GRCm39) critical splice donor site probably null
IGL03251:Gm8220 APN 14 44,525,729 (GRCm39) missense possibly damaging 0.71
R4066:Gm8220 UTSW 14 44,523,095 (GRCm39) nonsense probably null
R4743:Gm8220 UTSW 14 44,523,152 (GRCm39) unclassified probably benign
R5349:Gm8220 UTSW 14 44,525,634 (GRCm39) missense probably benign 0.07
R6394:Gm8220 UTSW 14 44,523,134 (GRCm39) unclassified probably benign
R6932:Gm8220 UTSW 14 44,525,645 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATATGAGCCGACAATGCCCTCC -3'
(R):5'- TGGCCCAAGATAGTCAGCAAAGAAC -3'

Sequencing Primer
(F):5'- GATGCACTATCAGGGATTCTCAG -3'
(R):5'- ACTGGGCATAATGACTACCTG -3'
Posted On 2014-10-09