Incidental Mutation 'R4257:Gm6563'
ID 321878
Institutional Source Beutler Lab
Gene Symbol Gm6563
Ensembl Gene ENSMUSG00000051255
Gene Name predicted pseudogene 6563
Synonyms
MMRRC Submission 041070-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R4257 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 23653212-23653844 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23653339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 43 (E43G)
Ref Sequence ENSEMBL: ENSMUSP00000137244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056396]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000056396
AA Change: E43G

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137244
Gene: ENSMUSG00000051255
AA Change: E43G

DomainStartEndE-ValueType
SAP 8 42 2.49e-10 SMART
low complexity region 43 80 N/A INTRINSIC
internal_repeat_1 117 130 5.45e-5 PROSPERO
low complexity region 165 180 N/A INTRINSIC
internal_repeat_1 197 210 5.45e-5 PROSPERO
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik C T 7: 126,430,662 (GRCm39) probably benign Het
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Akap13 T A 7: 75,261,033 (GRCm39) I1219K probably damaging Het
Arfgef1 T C 1: 10,229,771 (GRCm39) probably benign Het
Arhgap24 A G 5: 102,811,983 (GRCm39) E70G probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Babam2 T C 5: 31,859,414 (GRCm39) S40P possibly damaging Het
Brwd1 A G 16: 95,824,696 (GRCm39) V1190A probably damaging Het
Ccpg1 A G 9: 72,919,909 (GRCm39) E508G probably damaging Het
Ckm T C 7: 19,155,279 (GRCm39) S372P probably benign Het
Egflam T A 15: 7,283,907 (GRCm39) probably null Het
Farp1 G A 14: 121,492,891 (GRCm39) V498M probably benign Het
Galnt14 T A 17: 73,811,899 (GRCm39) I441F probably benign Het
Gm5414 A G 15: 101,533,107 (GRCm39) L440P probably damaging Het
Gm9755 A T 8: 67,967,129 (GRCm39) noncoding transcript Het
Gmds A G 13: 32,004,172 (GRCm39) S337P possibly damaging Het
L3mbtl3 T A 10: 26,156,020 (GRCm39) Q754L unknown Het
Ltk G A 2: 119,583,485 (GRCm39) T300I possibly damaging Het
Or5d46 A C 2: 88,170,621 (GRCm39) K237N probably damaging Het
Pbx2 C A 17: 34,813,619 (GRCm39) H184Q probably damaging Het
Plxna2 T C 1: 194,327,083 (GRCm39) F339S probably damaging Het
Prkaa2 A T 4: 104,897,153 (GRCm39) D353E probably benign Het
Prss36 G A 7: 127,532,010 (GRCm39) probably benign Het
Rimbp2 A G 5: 128,851,324 (GRCm39) V874A probably damaging Het
Rspo2 C A 15: 42,939,307 (GRCm39) R161L probably benign Het
Ryr1 T C 7: 28,781,875 (GRCm39) D2038G possibly damaging Het
Stkld1 A G 2: 26,833,146 (GRCm39) M111V probably benign Het
Tprn A G 2: 25,154,494 (GRCm39) I599V probably damaging Het
Upp2 A T 2: 58,670,106 (GRCm39) I219F probably damaging Het
Vmn2r94 A T 17: 18,464,433 (GRCm39) F619Y probably damaging Het
Xirp2 A G 2: 67,346,383 (GRCm39) T2875A probably benign Het
Zfp64 A G 2: 168,768,298 (GRCm39) L438P probably damaging Het
Other mutations in Gm6563
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Gm6563 APN 19 23,653,751 (GRCm39) missense probably damaging 0.99
IGL02247:Gm6563 APN 19 23,653,392 (GRCm39) missense possibly damaging 0.73
IGL02989:Gm6563 APN 19 23,653,234 (GRCm39) missense possibly damaging 0.82
R1274:Gm6563 UTSW 19 23,653,701 (GRCm39) missense probably benign 0.14
R6048:Gm6563 UTSW 19 23,653,246 (GRCm39) missense probably benign 0.00
R8480:Gm6563 UTSW 19 23,653,290 (GRCm39) missense probably benign 0.00
R8518:Gm6563 UTSW 19 23,653,480 (GRCm39) missense probably damaging 1.00
R8730:Gm6563 UTSW 19 23,653,429 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTTGCTGATTGAATACCCATC -3'
(R):5'- ACATTGAATCGTTCAGCCCTC -3'

Sequencing Primer
(F):5'- AAGCTGATCTGGACCATGTGACTC -3'
(R):5'- CATTCTTTCAGTCTGAGGTATTCCAG -3'
Posted On 2015-06-20