Incidental Mutation 'R1311:Gm4884'
ID 157931
Institutional Source Beutler Lab
Gene Symbol Gm4884
Ensembl Gene ENSMUSG00000048312
Gene Name predicted gene 4884
Synonyms
MMRRC Submission 039377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1311 (G1)
Quality Score 175
Status Not validated
Chromosome 7
Chromosomal Location 40682143-40694726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 40692539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 169 (E169D)
Ref Sequence ENSEMBL: ENSMUSP00000133059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164422]
AlphaFold E9PVP9
Predicted Effect possibly damaging
Transcript: ENSMUST00000164422
AA Change: E169D

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: E169D

DomainStartEndE-ValueType
Pfam:DUF4629 243 387 8e-62 PFAM
low complexity region 509 533 N/A INTRINSIC
internal_repeat_1 554 584 1.89e-11 PROSPERO
internal_repeat_1 583 613 1.89e-11 PROSPERO
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.1%
  • 20x: 86.2%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T C 2: 58,170,261 (GRCm39) Q449R probably benign Het
Cap1 A G 4: 122,759,007 (GRCm39) Y195H possibly damaging Het
Casp8ap2 T A 4: 32,648,111 (GRCm39) N1939K probably damaging Het
Cd209c T A 8: 3,995,908 (GRCm39) M1L probably benign Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Col13a1 A G 10: 61,699,789 (GRCm39) probably benign Het
Dennd4a T C 9: 64,817,286 (GRCm39) V1640A probably benign Het
Eml6 T C 11: 29,781,088 (GRCm39) probably benign Het
Fat3 G A 9: 15,932,706 (GRCm39) T1409I probably damaging Het
Gm5709 T C 3: 59,526,100 (GRCm39) noncoding transcript Het
Htr2b C A 1: 86,038,346 (GRCm39) A87S probably damaging Het
Kansl2 G T 15: 98,426,797 (GRCm39) H275N possibly damaging Het
Megf6 G A 4: 154,348,239 (GRCm39) probably null Het
Mtpn A G 6: 35,489,185 (GRCm39) I113T possibly damaging Het
Myh6 G T 14: 55,183,822 (GRCm39) A1704E probably damaging Het
Notum C T 11: 120,546,575 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Olfml1 T C 7: 107,167,103 (GRCm39) probably null Het
Or14c41 T A 7: 86,235,161 (GRCm39) V226D probably damaging Het
Ptpn5 A T 7: 46,728,980 (GRCm39) probably benign Het
Rapgef2 A G 3: 78,990,854 (GRCm39) F985L probably benign Het
Slc7a7 A T 14: 54,610,487 (GRCm39) Y386* probably null Het
Snph G T 2: 151,439,122 (GRCm39) P36Q probably damaging Het
St18 T C 1: 6,915,868 (GRCm39) C838R probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Supt7l T C 5: 31,677,605 (GRCm39) Y187C probably damaging Het
Sycp2l A T 13: 41,288,661 (GRCm39) K241* probably null Het
Tenm2 G T 11: 35,959,421 (GRCm39) probably benign Het
Tfap4 A G 16: 4,377,290 (GRCm39) probably null Het
Tmem132e T C 11: 82,335,122 (GRCm39) Y643H probably damaging Het
Tmem200c A T 17: 69,147,758 (GRCm39) S114C probably damaging Het
Ush2a T C 1: 188,679,342 (GRCm39) I4850T possibly damaging Het
Zmym6 G T 4: 127,017,151 (GRCm39) L977F probably damaging Het
Other mutations in Gm4884
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Gm4884 APN 7 40,693,809 (GRCm39) missense probably benign 0.22
IGL00980:Gm4884 APN 7 40,693,150 (GRCm39) missense probably damaging 1.00
IGL02230:Gm4884 APN 7 40,692,829 (GRCm39) missense probably damaging 1.00
IGL03271:Gm4884 APN 7 40,692,699 (GRCm39) missense probably benign 0.33
IGL03274:Gm4884 APN 7 40,693,969 (GRCm39) missense probably damaging 1.00
R0013:Gm4884 UTSW 7 40,693,716 (GRCm39) missense probably damaging 1.00
R0139:Gm4884 UTSW 7 40,692,387 (GRCm39) missense probably benign 0.00
R0179:Gm4884 UTSW 7 40,693,252 (GRCm39) missense probably benign 0.26
R0960:Gm4884 UTSW 7 40,692,232 (GRCm39) missense possibly damaging 0.55
R1167:Gm4884 UTSW 7 40,693,336 (GRCm39) missense possibly damaging 0.92
R1466:Gm4884 UTSW 7 40,692,552 (GRCm39) missense probably damaging 0.96
R1466:Gm4884 UTSW 7 40,692,552 (GRCm39) missense probably damaging 0.96
R1581:Gm4884 UTSW 7 40,693,255 (GRCm39) missense probably benign 0.09
R1622:Gm4884 UTSW 7 40,692,265 (GRCm39) missense probably damaging 0.99
R1891:Gm4884 UTSW 7 40,692,539 (GRCm39) missense possibly damaging 0.73
R1952:Gm4884 UTSW 7 40,693,671 (GRCm39) missense probably benign 0.02
R2198:Gm4884 UTSW 7 40,690,229 (GRCm39) missense probably benign
R2209:Gm4884 UTSW 7 40,692,745 (GRCm39) missense possibly damaging 0.47
R2210:Gm4884 UTSW 7 40,692,970 (GRCm39) missense possibly damaging 0.72
R2219:Gm4884 UTSW 7 40,692,910 (GRCm39) missense possibly damaging 0.75
R3688:Gm4884 UTSW 7 40,692,910 (GRCm39) missense possibly damaging 0.75
R4437:Gm4884 UTSW 7 40,692,514 (GRCm39) missense probably damaging 0.97
R4472:Gm4884 UTSW 7 40,692,687 (GRCm39) missense probably benign 0.35
R5137:Gm4884 UTSW 7 40,692,318 (GRCm39) missense probably damaging 0.99
R5700:Gm4884 UTSW 7 40,692,643 (GRCm39) missense probably benign 0.22
R5875:Gm4884 UTSW 7 40,692,360 (GRCm39) missense possibly damaging 0.75
R6479:Gm4884 UTSW 7 40,690,211 (GRCm39) missense probably damaging 0.99
R6659:Gm4884 UTSW 7 40,694,046 (GRCm39) missense probably damaging 1.00
R7180:Gm4884 UTSW 7 40,693,633 (GRCm39) missense possibly damaging 0.89
R7844:Gm4884 UTSW 7 40,690,122 (GRCm39) missense probably benign 0.11
R8153:Gm4884 UTSW 7 40,692,582 (GRCm39) missense probably benign 0.17
R8436:Gm4884 UTSW 7 40,692,810 (GRCm39) missense probably damaging 0.97
R8880:Gm4884 UTSW 7 40,693,911 (GRCm39) missense probably damaging 1.00
R8885:Gm4884 UTSW 7 40,694,108 (GRCm39) nonsense probably null
R9406:Gm4884 UTSW 7 40,692,565 (GRCm39) missense probably damaging 1.00
R9621:Gm4884 UTSW 7 40,693,111 (GRCm39) missense possibly damaging 0.76
R9728:Gm4884 UTSW 7 40,692,689 (GRCm39) missense probably benign 0.00
RF013:Gm4884 UTSW 7 40,690,233 (GRCm39) missense probably damaging 1.00
Z1088:Gm4884 UTSW 7 40,692,300 (GRCm39) missense possibly damaging 0.71
Z1177:Gm4884 UTSW 7 40,682,161 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCCAGAACTCTGCAACACCTGTGTC -3'
(R):5'- GGGAAGTTGAATGTCTGCCCCAAAC -3'

Sequencing Primer
(F):5'- TGTCCAGGTTTCCCAGATAAG -3'
(R):5'- ATGTCTGCCCCAAACCTAGTG -3'
Posted On 2014-02-18