Incidental Mutation 'R2020:Dennd6a'
ID 223875
Institutional Source Beutler Lab
Gene Symbol Dennd6a
Ensembl Gene ENSMUSG00000040818
Gene Name DENN/MADD domain containing 6A
Synonyms A630054L15Rik, Fam116a
MMRRC Submission 040029-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R2020 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 26573856-26634322 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26612003 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 131 (F131L)
Ref Sequence ENSEMBL: ENSMUSP00000152966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037585] [ENSMUST00000203874] [ENSMUST00000224111] [ENSMUST00000224248] [ENSMUST00000224378]
AlphaFold Q8BH65
Predicted Effect probably damaging
Transcript: ENSMUST00000037585
AA Change: F355L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: F355L

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 damaging
Transcript: ENSMUST00000203874
AA Change: F355L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: F355L

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 damaging
Transcript: ENSMUST00000224111
AA Change: F131L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000224248
AA Change: F131L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000224378
AA Change: F131L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225206
Meta Mutation Damage Score 0.6685 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 99% (87/88)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik C A 1: 158,968,912 (GRCm38) noncoding transcript Het
9530053A07Rik T C 7: 28,155,594 (GRCm38) S1882P probably benign Het
Adam17 G A 12: 21,349,875 (GRCm38) R177C probably damaging Het
Ak7 G A 12: 105,745,332 (GRCm38) probably null Het
Akap9 T C 5: 3,961,967 (GRCm38) V890A probably damaging Het
Alg6 A G 4: 99,738,132 (GRCm38) N59S probably damaging Het
Alkbh5 G T 11: 60,538,549 (GRCm38) A43S probably benign Het
Anxa2 C A 9: 69,483,817 (GRCm38) D162E probably damaging Het
Arap1 A G 7: 101,401,518 (GRCm38) H1136R probably benign Het
Arhgap18 A G 10: 26,854,904 (GRCm38) R121G probably benign Het
Arhgef4 A T 1: 34,723,810 (GRCm38) T716S unknown Het
Atg2a T C 19: 6,250,269 (GRCm38) probably null Het
Ccdc27 T C 4: 154,033,313 (GRCm38) I480V probably null Het
Cdipt T C 7: 126,976,933 (GRCm38) V20A possibly damaging Het
Cgrrf1 C T 14: 46,830,445 (GRCm38) probably benign Het
Chd7 G A 4: 8,855,226 (GRCm38) V2152I probably benign Het
Chd8 T A 14: 52,215,241 (GRCm38) S1274C probably damaging Het
Chuk A T 19: 44,107,343 (GRCm38) M17K possibly damaging Het
Col14a1 C T 15: 55,446,181 (GRCm38) probably benign Het
Col20a1 G A 2: 181,013,163 (GRCm38) probably null Het
Cped1 A G 6: 22,143,964 (GRCm38) I570V probably benign Het
Cul9 C G 17: 46,522,175 (GRCm38) A1326P probably damaging Het
Ddx27 A C 2: 167,033,771 (GRCm38) Q674P probably damaging Het
Dhx38 G A 8: 109,556,869 (GRCm38) probably benign Het
Dido1 G T 2: 180,659,585 (GRCm38) N2175K unknown Het
Dmxl1 T A 18: 49,889,558 (GRCm38) Y1654* probably null Het
Dock7 T A 4: 98,959,101 (GRCm38) H1658L probably damaging Het
Dync2h1 T A 9: 7,122,772 (GRCm38) E2061D probably damaging Het
Dync2h1 T C 9: 7,162,925 (GRCm38) I555V probably benign Het
Eif2ak2 T C 17: 78,863,963 (GRCm38) E337G possibly damaging Het
Fabp12 T A 3: 10,250,149 (GRCm38) D46V probably benign Het
Fech C T 18: 64,478,727 (GRCm38) E79K probably damaging Het
Flnc A T 6: 29,444,363 (GRCm38) I693F probably damaging Het
Foxp2 G A 6: 15,324,644 (GRCm38) C97Y possibly damaging Het
Grin2b A G 6: 135,733,896 (GRCm38) M884T probably benign Het
Gtf2ird1 T C 5: 134,417,093 (GRCm38) D28G probably damaging Het
Gtf3c4 C A 2: 28,833,894 (GRCm38) G468W possibly damaging Het
Ift172 A T 5: 31,267,241 (GRCm38) L201* probably null Het
Il1rl2 C A 1: 40,365,214 (GRCm38) S498R probably damaging Het
Ildr1 C T 16: 36,725,541 (GRCm38) R489W probably damaging Het
Itga10 G A 3: 96,652,490 (GRCm38) G487D probably damaging Het
Klk8 A G 7: 43,799,216 (GRCm38) N128D probably benign Het
Lgr6 G A 1: 135,075,275 (GRCm38) T79M probably damaging Het
Med6 T C 12: 81,573,877 (GRCm38) T232A probably benign Het
Mgat4e A G 1: 134,541,322 (GRCm38) L328P probably damaging Het
Mttp A G 3: 138,118,402 (GRCm38) Y138H probably damaging Het
Ngef T C 1: 87,545,968 (GRCm38) R31G probably benign Het
Nipsnap2 C A 5: 129,753,223 (GRCm38) probably null Het
Nlgn2 G T 11: 69,828,441 (GRCm38) N194K probably damaging Het
Olfr1026 A G 2: 85,923,743 (GRCm38) I158M probably benign Het
Olfr1245 A T 2: 89,574,961 (GRCm38) M255K possibly damaging Het
Olfr1450 G A 19: 12,954,332 (GRCm38) V248I possibly damaging Het
Olfr357 G A 2: 36,997,652 (GRCm38) V281M possibly damaging Het
Olfr894 A G 9: 38,219,432 (GRCm38) Y203C possibly damaging Het
Pcca T A 14: 122,813,222 (GRCm38) M101K possibly damaging Het
Plekha6 A G 1: 133,284,970 (GRCm38) T671A possibly damaging Het
Prex2 G A 1: 11,162,312 (GRCm38) V868M probably damaging Het
Prkcq G A 2: 11,279,521 (GRCm38) V501I probably benign Het
Prom1 T A 5: 44,011,253 (GRCm38) probably benign Het
Ptprd A G 4: 76,133,161 (GRCm38) V41A probably damaging Het
Rab39 C T 9: 53,686,398 (GRCm38) G189E possibly damaging Het
Ret T C 6: 118,180,382 (GRCm38) K236E possibly damaging Het
Rfx6 G A 10: 51,720,057 (GRCm38) probably null Het
Rnf213 A G 11: 119,461,918 (GRCm38) T3916A probably damaging Het
Rpn1 A G 6: 88,095,683 (GRCm38) N336S probably damaging Het
Sag G A 1: 87,805,315 (GRCm38) A2T probably damaging Het
Sco2 T C 15: 89,371,860 (GRCm38) Y197C probably damaging Het
Sec23b T C 2: 144,566,944 (GRCm38) I183T possibly damaging Het
Sec24b C T 3: 129,987,728 (GRCm38) V1166M probably damaging Het
Slc27a5 A T 7: 12,993,412 (GRCm38) F361Y probably damaging Het
Spaca9 A G 2: 28,696,001 (GRCm38) L17P probably damaging Het
Sqor T C 2: 122,804,107 (GRCm38) probably null Het
Stx18 A G 5: 38,135,244 (GRCm38) H230R probably damaging Het
Tas2r130 A T 6: 131,630,769 (GRCm38) I21N probably damaging Het
Tcaf3 A G 6: 42,593,724 (GRCm38) S365P possibly damaging Het
Tinagl1 G A 4: 130,166,972 (GRCm38) H351Y probably damaging Het
Tmc2 T C 2: 130,232,385 (GRCm38) Y333H probably damaging Het
Trp53bp2 A T 1: 182,442,819 (GRCm38) T395S probably damaging Het
Tsc22d1 T C 14: 76,418,333 (GRCm38) S751P probably damaging Het
Ttc30a1 A G 2: 75,980,935 (GRCm38) V268A probably benign Het
Ttn A G 2: 76,827,024 (GRCm38) probably benign Het
Ugdh T C 5: 65,416,925 (GRCm38) Y425C probably damaging Het
Vmn1r115 G A 7: 20,844,169 (GRCm38) L273F probably null Het
Vmn2r109 A T 17: 20,541,186 (GRCm38) C636* probably null Het
Vmn2r59 A C 7: 42,043,779 (GRCm38) Y466D probably damaging Het
Zic5 C T 14: 122,464,830 (GRCm38) G163D unknown Het
Other mutations in Dennd6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Dennd6a APN 14 26,608,613 (GRCm38) missense probably damaging 1.00
IGL01011:Dennd6a APN 14 26,603,054 (GRCm38) missense probably damaging 0.99
IGL01395:Dennd6a APN 14 26,616,901 (GRCm38) nonsense probably null
IGL01559:Dennd6a APN 14 26,608,565 (GRCm38) missense probably damaging 1.00
IGL01590:Dennd6a APN 14 26,619,352 (GRCm38) missense probably benign 0.40
IGL02187:Dennd6a APN 14 26,606,926 (GRCm38) missense probably benign
IGL03296:Dennd6a APN 14 26,616,960 (GRCm38) critical splice donor site probably null
R1831:Dennd6a UTSW 14 26,606,954 (GRCm38) missense probably damaging 1.00
R1833:Dennd6a UTSW 14 26,606,954 (GRCm38) missense probably damaging 1.00
R2032:Dennd6a UTSW 14 26,604,749 (GRCm38) missense probably benign 0.42
R2036:Dennd6a UTSW 14 26,608,119 (GRCm38) missense probably damaging 0.99
R3707:Dennd6a UTSW 14 26,592,391 (GRCm38) splice site probably benign
R4112:Dennd6a UTSW 14 26,628,518 (GRCm38) intron probably benign
R4728:Dennd6a UTSW 14 26,627,420 (GRCm38) missense probably null 1.00
R5053:Dennd6a UTSW 14 26,608,583 (GRCm38) missense probably damaging 1.00
R5760:Dennd6a UTSW 14 26,612,040 (GRCm38) missense probably damaging 0.99
R5774:Dennd6a UTSW 14 26,579,819 (GRCm38) missense probably benign
R5775:Dennd6a UTSW 14 26,619,373 (GRCm38) nonsense probably null
R6238:Dennd6a UTSW 14 26,616,658 (GRCm38) critical splice donor site probably null
R6446:Dennd6a UTSW 14 26,629,534 (GRCm38) missense probably damaging 1.00
R6734:Dennd6a UTSW 14 26,608,619 (GRCm38) missense possibly damaging 0.84
R7289:Dennd6a UTSW 14 26,612,038 (GRCm38) missense probably damaging 1.00
R7436:Dennd6a UTSW 14 26,579,710 (GRCm38) nonsense probably null
R7887:Dennd6a UTSW 14 26,599,657 (GRCm38) missense possibly damaging 0.50
R8348:Dennd6a UTSW 14 26,606,943 (GRCm38) missense possibly damaging 0.87
R8448:Dennd6a UTSW 14 26,606,943 (GRCm38) missense possibly damaging 0.87
R8847:Dennd6a UTSW 14 26,605,931 (GRCm38) missense probably benign 0.19
R9102:Dennd6a UTSW 14 26,629,534 (GRCm38) missense probably damaging 0.99
R9536:Dennd6a UTSW 14 26,608,603 (GRCm38) nonsense probably null
R9745:Dennd6a UTSW 14 26,599,663 (GRCm38) missense possibly damaging 0.94
RF003:Dennd6a UTSW 14 26,629,534 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGGAGTTTGTATGCCTTGATACC -3'
(R):5'- CCTTATCCAGGCTGTCTCCAAG -3'

Sequencing Primer
(F):5'- ACTCCAGTTCCAGGGGATCTAATG -3'
(R):5'- AGGCTGTCTCCAAGAATGTTACC -3'
Posted On 2014-08-25