Incidental Mutation 'IGL01395:Dennd6a'
ID 79414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd6a
Ensembl Gene ENSMUSG00000040818
Gene Name DENN domain containing 6A
Synonyms A630054L15Rik, Fam116a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # IGL01395
Quality Score
Status
Chromosome 14
Chromosomal Location 26295013-26355477 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 26338056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 175 (Y175*)
Ref Sequence ENSEMBL: ENSMUSP00000153200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037585] [ENSMUST00000203874] [ENSMUST00000224111] [ENSMUST00000224248] [ENSMUST00000224378]
AlphaFold Q8BH65
Predicted Effect probably null
Transcript: ENSMUST00000037585
AA Change: Y399*
SMART Domains Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: Y399*

DomainStartEndE-ValueType
low complexity region 17 51 N/A INTRINSIC
Pfam:Avl9 59 200 2.9e-11 PFAM
Pfam:DENN 165 371 1.1e-7 PFAM
Pfam:SPA 265 373 4.2e-18 PFAM
low complexity region 379 390 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
low complexity region 526 541 N/A INTRINSIC
low complexity region 554 563 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000203874
AA Change: Y399*
SMART Domains Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: Y399*

DomainStartEndE-ValueType
low complexity region 17 51 N/A INTRINSIC
Pfam:Avl9 59 200 2.6e-11 PFAM
Pfam:DENN 165 371 9.7e-8 PFAM
Pfam:SPA 265 373 3.7e-18 PFAM
low complexity region 379 390 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
low complexity region 526 537 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000224111
AA Change: Y175*
Predicted Effect probably null
Transcript: ENSMUST00000224248
AA Change: Y175*
Predicted Effect probably null
Transcript: ENSMUST00000224378
AA Change: Y175*
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Dennd6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Dennd6a APN 14 26,329,768 (GRCm39) missense probably damaging 1.00
IGL01011:Dennd6a APN 14 26,324,209 (GRCm39) missense probably damaging 0.99
IGL01559:Dennd6a APN 14 26,329,720 (GRCm39) missense probably damaging 1.00
IGL01590:Dennd6a APN 14 26,340,507 (GRCm39) missense probably benign 0.40
IGL02187:Dennd6a APN 14 26,328,081 (GRCm39) missense probably benign
IGL03296:Dennd6a APN 14 26,338,115 (GRCm39) critical splice donor site probably null
R1831:Dennd6a UTSW 14 26,328,109 (GRCm39) missense probably damaging 1.00
R1833:Dennd6a UTSW 14 26,328,109 (GRCm39) missense probably damaging 1.00
R2020:Dennd6a UTSW 14 26,333,158 (GRCm39) missense probably damaging 0.99
R2032:Dennd6a UTSW 14 26,325,904 (GRCm39) missense probably benign 0.42
R2036:Dennd6a UTSW 14 26,329,274 (GRCm39) missense probably damaging 0.99
R3707:Dennd6a UTSW 14 26,313,546 (GRCm39) splice site probably benign
R4112:Dennd6a UTSW 14 26,349,673 (GRCm39) intron probably benign
R4728:Dennd6a UTSW 14 26,348,575 (GRCm39) missense probably null 1.00
R5053:Dennd6a UTSW 14 26,329,738 (GRCm39) missense probably damaging 1.00
R5760:Dennd6a UTSW 14 26,333,195 (GRCm39) missense probably damaging 0.99
R5774:Dennd6a UTSW 14 26,300,974 (GRCm39) missense probably benign
R5775:Dennd6a UTSW 14 26,340,528 (GRCm39) nonsense probably null
R6238:Dennd6a UTSW 14 26,337,813 (GRCm39) critical splice donor site probably null
R6446:Dennd6a UTSW 14 26,350,689 (GRCm39) missense probably damaging 1.00
R6734:Dennd6a UTSW 14 26,329,774 (GRCm39) missense possibly damaging 0.84
R7289:Dennd6a UTSW 14 26,333,193 (GRCm39) missense probably damaging 1.00
R7436:Dennd6a UTSW 14 26,300,865 (GRCm39) nonsense probably null
R7887:Dennd6a UTSW 14 26,320,812 (GRCm39) missense possibly damaging 0.50
R8348:Dennd6a UTSW 14 26,328,098 (GRCm39) missense possibly damaging 0.87
R8448:Dennd6a UTSW 14 26,328,098 (GRCm39) missense possibly damaging 0.87
R8847:Dennd6a UTSW 14 26,327,086 (GRCm39) missense probably benign 0.19
R9102:Dennd6a UTSW 14 26,350,689 (GRCm39) missense probably damaging 0.99
R9536:Dennd6a UTSW 14 26,329,758 (GRCm39) nonsense probably null
R9745:Dennd6a UTSW 14 26,320,818 (GRCm39) missense possibly damaging 0.94
RF003:Dennd6a UTSW 14 26,350,689 (GRCm39) missense probably damaging 0.99
Posted On 2013-11-05