Incidental Mutation 'R4720:Dnajc11'
ID 354363
Institutional Source Beutler Lab
Gene Symbol Dnajc11
Ensembl Gene ENSMUSG00000039768
Gene Name DnaJ heat shock protein family (Hsp40) member C11
Synonyms E030019A03Rik
MMRRC Submission 041958-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4720 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 152018177-152066416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152052996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 102 (D102G)
Ref Sequence ENSEMBL: ENSMUSP00000122140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062904] [ENSMUST00000139069] [ENSMUST00000147625]
AlphaFold Q5U458
Predicted Effect probably damaging
Transcript: ENSMUST00000062904
AA Change: D140G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768
AA Change: D140G

DomainStartEndE-ValueType
DnaJ 13 74 4.41e-24 SMART
low complexity region 102 122 N/A INTRINSIC
Pfam:DUF3395 410 549 2e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138738
Predicted Effect probably damaging
Transcript: ENSMUST00000139069
AA Change: D140G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768
AA Change: D140G

DomainStartEndE-ValueType
DnaJ 13 74 4.41e-24 SMART
low complexity region 102 122 N/A INTRINSIC
coiled coil region 318 349 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142198
Predicted Effect probably damaging
Transcript: ENSMUST00000147625
AA Change: D102G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122140
Gene: ENSMUSG00000039768
AA Change: D102G

DomainStartEndE-ValueType
DnaJ 1 36 2.51e-1 SMART
low complexity region 64 84 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148048
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutation exhibit motor neuron pathology, disorganized cristae and lymphoid abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,018,248 (GRCm39) I1124T probably damaging Het
Acacb A G 5: 114,367,975 (GRCm39) T1658A possibly damaging Het
Acvrl1 C A 15: 101,033,654 (GRCm39) P112Q probably damaging Het
Ankar A T 1: 72,738,170 (GRCm39) I4K possibly damaging Het
Ankfn1 G C 11: 89,332,252 (GRCm39) D431E possibly damaging Het
Apobec4 T C 1: 152,632,425 (GRCm39) V151A possibly damaging Het
Atp10b A G 11: 43,093,949 (GRCm39) S498G probably benign Het
Azin1 A G 15: 38,493,744 (GRCm39) V293A probably benign Het
Ccdc88b T C 19: 6,835,083 (GRCm39) E46G probably damaging Het
Ccdc96 T C 5: 36,642,219 (GRCm39) probably benign Het
Ccnyl1 A G 1: 64,752,290 (GRCm39) D169G probably benign Het
Cdca3 T A 6: 124,809,127 (GRCm39) V89E probably damaging Het
Cdh19 A T 1: 110,823,111 (GRCm39) probably null Het
Chka G A 19: 3,936,375 (GRCm39) V238I probably damaging Het
Cntn3 T C 6: 102,218,983 (GRCm39) K546E possibly damaging Het
Crybg3 A G 16: 59,360,180 (GRCm39) V787A probably damaging Het
Dlgap3 T C 4: 127,089,508 (GRCm39) probably null Het
Dnah8 C T 17: 30,902,608 (GRCm39) L889F probably benign Het
Dnah9 T C 11: 65,967,184 (GRCm39) E1658G probably damaging Het
Dync1i2 T G 2: 71,064,018 (GRCm39) S121A probably damaging Het
Ece1 G A 4: 137,684,486 (GRCm39) E591K probably damaging Het
Enthd1 G A 15: 80,444,510 (GRCm39) S15L probably damaging Het
Epb41l2 T A 10: 25,347,524 (GRCm39) H372Q probably damaging Het
Errfi1 T A 4: 150,951,204 (GRCm39) Y211N probably damaging Het
Fam193b G A 13: 55,691,250 (GRCm39) T208M probably benign Het
Flacc1 T C 1: 58,717,507 (GRCm39) I135V possibly damaging Het
Fmnl2 C T 2: 52,997,552 (GRCm39) T501M possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm4841 G T 18: 60,403,135 (GRCm39) D319E probably benign Het
Gucd1 A G 10: 75,345,494 (GRCm39) F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 124,002,752 (GRCm39) probably null Het
Helz2 T C 2: 180,880,210 (GRCm39) D502G probably damaging Het
Hspa2 A G 12: 76,451,639 (GRCm39) E111G possibly damaging Het
Htr2a T A 14: 74,882,499 (GRCm39) S162T probably damaging Het
Ift80 A G 3: 68,869,623 (GRCm39) Y223H possibly damaging Het
Il1rl1 A G 1: 40,485,838 (GRCm39) K330E probably benign Het
Il23r A T 6: 67,400,645 (GRCm39) F562I probably damaging Het
Isx T C 8: 75,600,487 (GRCm39) probably null Het
Jcad G A 18: 4,674,055 (GRCm39) V606I probably benign Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Kcnq5 C T 1: 21,473,274 (GRCm39) A630T probably damaging Het
Kif2c T C 4: 117,028,946 (GRCm39) M188V probably benign Het
Kntc1 T C 5: 123,903,086 (GRCm39) V321A possibly damaging Het
Krtap4-8 A T 11: 99,671,271 (GRCm39) probably benign Het
Lcor G C 19: 41,574,334 (GRCm39) A1030P probably benign Het
Lgals3bp A C 11: 118,289,295 (GRCm39) L52R probably damaging Het
Lipk C A 19: 33,999,099 (GRCm39) H126Q probably damaging Het
Lpgat1 T C 1: 191,495,779 (GRCm39) Y323H probably damaging Het
Lrp2 T G 2: 69,311,517 (GRCm39) N2654H probably damaging Het
Lsm14b C T 2: 179,669,774 (GRCm39) Q6* probably null Het
Lysmd3 C T 13: 81,817,584 (GRCm39) A187V possibly damaging Het
Map2k5 A G 9: 63,201,001 (GRCm39) S211P probably damaging Het
Mlph A T 1: 90,869,419 (GRCm39) I474F probably damaging Het
Mpped2 T C 2: 106,614,091 (GRCm39) S142P probably damaging Het
Nemf A C 12: 69,371,062 (GRCm39) M678R probably benign Het
Nfe2l1 A T 11: 96,718,515 (GRCm39) Y7N probably damaging Het
Nfkbie T G 17: 45,867,232 (GRCm39) D122E probably benign Het
Noc3l C A 19: 38,778,066 (GRCm39) A783S probably benign Het
Nol8 T C 13: 49,816,229 (GRCm39) V761A probably damaging Het
Nvl A G 1: 180,929,152 (GRCm39) L743P probably damaging Het
Or1j1 T A 2: 36,702,484 (GRCm39) I207F probably benign Het
Plcb1 A G 2: 135,093,667 (GRCm39) K160R possibly damaging Het
Plekhg3 G T 12: 76,625,096 (GRCm39) G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Popdc3 G A 10: 45,191,002 (GRCm39) V38I probably benign Het
Prdx3 A T 19: 60,858,551 (GRCm39) V114D possibly damaging Het
Prkdc T A 16: 15,485,579 (GRCm39) S469T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Rims1 A G 1: 22,497,731 (GRCm39) Y808H probably damaging Het
Rsbn1 C A 3: 103,836,336 (GRCm39) T458N possibly damaging Het
Serpina3b A G 12: 104,096,889 (GRCm39) S57G possibly damaging Het
Skor2 G T 18: 76,948,878 (GRCm39) probably null Het
Slc22a4 A T 11: 53,879,719 (GRCm39) Y447N probably damaging Het
Slco1a7 C A 6: 141,668,948 (GRCm39) A495S probably damaging Het
Stx19 G T 16: 62,642,682 (GRCm39) R166L probably damaging Het
Svep1 T C 4: 58,205,869 (GRCm39) T170A possibly damaging Het
Sycp2 T G 2: 178,016,225 (GRCm39) S746R probably benign Het
Tchh G T 3: 93,355,189 (GRCm39) R1543L unknown Het
Tjp2 T C 19: 24,078,169 (GRCm39) D908G probably damaging Het
Ttc8 C A 12: 98,946,068 (GRCm39) A452E possibly damaging Het
Unc5a T A 13: 55,151,696 (GRCm39) W709R probably null Het
Unc80 T A 1: 66,549,951 (GRCm39) S736R possibly damaging Het
Vmn2r100 C A 17: 19,742,788 (GRCm39) H387Q probably benign Het
Vmn2r39 C T 7: 9,026,469 (GRCm39) probably null Het
Vmn2r88 T A 14: 51,650,702 (GRCm39) D138E probably benign Het
Vwce T C 19: 10,625,831 (GRCm39) F448L possibly damaging Het
Wdr75 C T 1: 45,861,645 (GRCm39) S695F probably benign Het
Zfand4 T C 6: 116,265,122 (GRCm39) probably null Het
Zfp511 T A 7: 139,617,424 (GRCm39) probably null Het
Zfyve9 T C 4: 108,501,565 (GRCm39) K584E possibly damaging Het
Other mutations in Dnajc11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Dnajc11 APN 4 152,063,759 (GRCm39) missense probably damaging 0.99
IGL02253:Dnajc11 APN 4 152,034,976 (GRCm39) nonsense probably null
IGL02606:Dnajc11 APN 4 152,063,941 (GRCm39) missense probably benign 0.18
IGL02969:Dnajc11 APN 4 152,062,503 (GRCm39) missense probably benign 0.33
IGL03062:Dnajc11 APN 4 152,055,318 (GRCm39) missense possibly damaging 0.92
PIT4812001:Dnajc11 UTSW 4 152,037,346 (GRCm39) missense probably benign 0.04
R0601:Dnajc11 UTSW 4 152,054,393 (GRCm39) missense probably damaging 1.00
R0620:Dnajc11 UTSW 4 152,058,085 (GRCm39) missense possibly damaging 0.54
R0639:Dnajc11 UTSW 4 152,054,393 (GRCm39) missense probably damaging 1.00
R1694:Dnajc11 UTSW 4 152,063,730 (GRCm39) missense probably damaging 1.00
R4091:Dnajc11 UTSW 4 152,062,550 (GRCm39) unclassified probably benign
R4545:Dnajc11 UTSW 4 152,064,398 (GRCm39) missense probably damaging 1.00
R4548:Dnajc11 UTSW 4 152,058,074 (GRCm39) missense possibly damaging 0.93
R4732:Dnajc11 UTSW 4 152,055,424 (GRCm39) unclassified probably benign
R4751:Dnajc11 UTSW 4 152,052,999 (GRCm39) missense probably benign 0.01
R4895:Dnajc11 UTSW 4 152,064,390 (GRCm39) missense probably damaging 1.00
R5122:Dnajc11 UTSW 4 152,061,454 (GRCm39) missense possibly damaging 0.63
R5127:Dnajc11 UTSW 4 152,054,271 (GRCm39) unclassified probably benign
R5174:Dnajc11 UTSW 4 152,064,441 (GRCm39) missense probably damaging 1.00
R5180:Dnajc11 UTSW 4 152,054,396 (GRCm39) missense probably damaging 1.00
R5319:Dnajc11 UTSW 4 152,052,983 (GRCm39) missense probably damaging 1.00
R5624:Dnajc11 UTSW 4 152,063,967 (GRCm39) missense probably benign
R6056:Dnajc11 UTSW 4 152,062,583 (GRCm39) unclassified probably benign
R6434:Dnajc11 UTSW 4 152,063,751 (GRCm39) missense probably damaging 1.00
R7635:Dnajc11 UTSW 4 152,053,068 (GRCm39) missense probably damaging 1.00
R7652:Dnajc11 UTSW 4 152,058,682 (GRCm39) missense probably damaging 0.99
R7937:Dnajc11 UTSW 4 152,034,909 (GRCm39) missense probably damaging 1.00
R7940:Dnajc11 UTSW 4 152,053,045 (GRCm39) missense probably benign 0.00
R8093:Dnajc11 UTSW 4 152,054,357 (GRCm39) missense probably damaging 1.00
R8361:Dnajc11 UTSW 4 152,055,368 (GRCm39) missense probably damaging 0.99
R8684:Dnajc11 UTSW 4 152,065,183 (GRCm39) makesense probably null
R9608:Dnajc11 UTSW 4 152,034,978 (GRCm39) missense possibly damaging 0.94
Z1176:Dnajc11 UTSW 4 152,018,240 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGACCTGTGACATTGATGCTG -3'
(R):5'- CCTCAGTGGCTAATTGCAGG -3'

Sequencing Primer
(F):5'- ACATTGATGCTGTGTGGGC -3'
(R):5'- GCTTTCATAGAGATGAGGCTCACC -3'
Posted On 2015-10-21