Incidental Mutation 'R5621:Jmjd4'
ID 441573
Institutional Source Beutler Lab
Gene Symbol Jmjd4
Ensembl Gene ENSMUSG00000036819
Gene Name jumonji domain containing 4
Synonyms
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R5621 (G1)
Quality Score 151
Status Validated
Chromosome 11
Chromosomal Location 59340871-59349393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59341219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 50 (F50S)
Ref Sequence ENSEMBL: ENSMUSP00000123531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000045279] [ENSMUST00000108777] [ENSMUST00000120940] [ENSMUST00000125846] [ENSMUST00000147163] [ENSMUST00000156146] [ENSMUST00000136436] [ENSMUST00000145550] [ENSMUST00000132969] [ENSMUST00000150297]
AlphaFold Q8BFT6
Predicted Effect probably benign
Transcript: ENSMUST00000010038
SMART Domains Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
low complexity region 335 349 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000045279
AA Change: F50S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043473
Gene: ENSMUSG00000036819
AA Change: F50S

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Blast:JmjC 34 89 2e-21 BLAST
Blast:JmjC 103 144 1e-18 BLAST
JmjC 147 294 1.56e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108777
AA Change: F50S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104407
Gene: ENSMUSG00000036819
AA Change: F50S

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Blast:JmjC 34 89 3e-21 BLAST
JmjC 147 306 1.84e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120940
SMART Domains Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126158
Predicted Effect probably damaging
Transcript: ENSMUST00000147163
AA Change: F50S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123531
Gene: ENSMUSG00000036819
AA Change: F50S

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Blast:JmjC 68 152 8e-38 BLAST
Blast:JmjC 152 190 2e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000156146
SMART Domains Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136436
SMART Domains Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145550
Predicted Effect probably benign
Transcript: ENSMUST00000132969
SMART Domains Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150297
Meta Mutation Damage Score 0.6410 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are healthy, fertile and physiologically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Jmjd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Jmjd4 APN 11 59,346,140 (GRCm39) missense probably damaging 1.00
IGL00434:Jmjd4 APN 11 59,341,321 (GRCm39) missense probably damaging 1.00
IGL00863:Jmjd4 APN 11 59,341,569 (GRCm39) missense probably benign
IGL02566:Jmjd4 APN 11 59,345,880 (GRCm39) missense probably damaging 0.99
R0048:Jmjd4 UTSW 11 59,344,778 (GRCm39) missense probably benign
R1678:Jmjd4 UTSW 11 59,344,438 (GRCm39) missense probably damaging 1.00
R2131:Jmjd4 UTSW 11 59,345,781 (GRCm39) missense probably damaging 1.00
R4823:Jmjd4 UTSW 11 59,346,406 (GRCm39) missense probably benign 0.00
R6053:Jmjd4 UTSW 11 59,344,870 (GRCm39) missense probably damaging 1.00
R6664:Jmjd4 UTSW 11 59,341,245 (GRCm39) missense probably benign 0.22
R7816:Jmjd4 UTSW 11 59,341,162 (GRCm39) missense probably benign 0.31
R8080:Jmjd4 UTSW 11 59,341,179 (GRCm39) missense probably benign
R8957:Jmjd4 UTSW 11 59,340,884 (GRCm39) unclassified probably benign
R9356:Jmjd4 UTSW 11 59,345,761 (GRCm39) missense probably benign
R9732:Jmjd4 UTSW 11 59,341,339 (GRCm39) critical splice donor site probably null
X0018:Jmjd4 UTSW 11 59,345,880 (GRCm39) missense probably damaging 0.99
Z1177:Jmjd4 UTSW 11 59,341,100 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTCCGAGCTGATTTTAGGGG -3'
(R):5'- TGGCCGAATTATCCAGACTC -3'

Sequencing Primer
(F):5'- AGCCTCCGGTCCCTATTTGG -3'
(R):5'- GGCCGAATTATCCAGACTCCACTAG -3'
Posted On 2016-11-08