Incidental Mutation 'R4743:Gm8220'
ID 358192
Institutional Source Beutler Lab
Gene Symbol Gm8220
Ensembl Gene ENSMUSG00000091725
Gene Name predicted gene 8220
Synonyms
MMRRC Submission 041967-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.237) question?
Stock # R4743 (G1)
Quality Score 213
Status Validated
Chromosome 14
Chromosomal Location 44523037-44528525 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 44523152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169601] [ENSMUST00000177877]
AlphaFold L7N2B0
Predicted Effect unknown
Transcript: ENSMUST00000164663
AA Change: H38Q
SMART Domains Protein: ENSMUSP00000131482
Gene: ENSMUSG00000091725
AA Change: H38Q

DomainStartEndE-ValueType
Pfam:Takusan 57 137 3e-27 PFAM
coiled coil region 164 186 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000169601
AA Change: S31T
SMART Domains Protein: ENSMUSP00000129002
Gene: ENSMUSG00000091725
AA Change: S31T

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik A G 1: 85,858,972 (GRCm39) probably benign Het
Ahcy T C 2: 154,910,888 (GRCm39) N27D probably damaging Het
Akap9 T G 5: 4,011,013 (GRCm39) L572R probably damaging Het
Akna A G 4: 63,296,850 (GRCm39) S909P probably damaging Het
Atr A G 9: 95,744,845 (GRCm39) E54G probably benign Het
Baz2b A G 2: 59,744,255 (GRCm39) S1417P probably benign Het
Colgalt2 A G 1: 152,276,094 (GRCm39) Y69C probably damaging Het
Comp A G 8: 70,828,711 (GRCm39) E181G probably damaging Het
Dcaf10 T A 4: 45,370,409 (GRCm39) S326T probably damaging Het
Dscam T C 16: 96,631,256 (GRCm39) E253G probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Epha1 G T 6: 42,349,155 (GRCm39) T36K probably benign Het
Ewsr1 A T 11: 5,033,541 (GRCm39) D210E unknown Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fndc1 T A 17: 7,991,111 (GRCm39) R862* probably null Het
Gbp8 T C 5: 105,178,707 (GRCm39) K203E possibly damaging Het
Gigyf2 T A 1: 87,292,970 (GRCm39) L79* probably null Het
Gm9755 A T 8: 67,966,929 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,042 (GRCm39) Y120H probably damaging Het
Kcnma1 T C 14: 23,853,270 (GRCm39) T2A probably damaging Het
Mroh9 T C 1: 162,852,061 (GRCm39) Y876C probably benign Het
Plekhh2 A G 17: 84,878,548 (GRCm39) Y601C probably damaging Het
Rabgap1l G T 1: 160,281,353 (GRCm39) Q623K probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rapgef2 T C 3: 79,080,375 (GRCm39) Y109C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Slain2 T A 5: 73,114,927 (GRCm39) L386* probably null Het
Slc4a7 A G 14: 14,796,073 (GRCm38) probably null Het
Slco1c1 T C 6: 141,510,242 (GRCm39) C582R probably damaging Het
Sulf1 A G 1: 12,906,517 (GRCm39) N520D probably benign Het
Tbc1d7 A G 13: 43,323,325 (GRCm39) V22A probably damaging Het
Tmprss6 A G 15: 78,327,910 (GRCm39) V612A probably damaging Het
Trpv2 A G 11: 62,483,627 (GRCm39) E488G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Uspl1 A G 5: 149,146,566 (GRCm39) Y439C probably damaging Het
Vwf A G 6: 125,661,054 (GRCm39) probably null 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
R0845:Gm8220 UTSW 14 44,524,248 (GRCm39) missense probably damaging 1.00
R4066:Gm8220 UTSW 14 44,523,095 (GRCm39) nonsense probably null
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'- CATCAGTAGCCACTTCCCTG -3'
(R):5'- TCATCAGACACTCTTGACTCTGG -3'

Sequencing Primer
(F):5'- AGTAGCCACTTCCCTGGATAATC -3'
(R):5'- GGTTCTACCATTTAGGAATCTGAAGG -3'
Posted On 2015-11-11