Incidental Mutation 'R4962:Dennd4a'
ID 482159
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 042559-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.489) question?
Stock # R4962 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 64718622-64826949 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64813285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1415 (S1415P)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect probably benign
Transcript: ENSMUST00000038890
AA Change: S1415P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: S1415P

DomainStartEndE-ValueType
internal_repeat_1 45 93 3.26e-5 PROSPERO
uDENN 169 276 1.71e-28 SMART
DENN 309 493 2.4e-73 SMART
dDENN 559 633 4.15e-27 SMART
low complexity region 724 735 N/A INTRINSIC
low complexity region 936 950 N/A INTRINSIC
low complexity region 1176 1191 N/A INTRINSIC
low complexity region 1249 1262 N/A INTRINSIC
low complexity region 1402 1417 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214029
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,314,728 (GRCm39) F317L possibly damaging Het
Abcc4 A G 14: 118,905,811 (GRCm39) I85T probably benign Het
Acoxl G T 2: 127,917,810 (GRCm39) C498F probably damaging Het
Akap13 C T 7: 75,399,178 (GRCm39) T2752I probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ap2a2 T G 7: 141,210,061 (GRCm39) F836C probably damaging Het
Atp2c1 A G 9: 105,320,149 (GRCm39) V404A probably benign Het
Atp7b G T 8: 22,510,901 (GRCm39) A415E probably damaging Het
Babam2 A T 5: 31,942,927 (GRCm39) I71L possibly damaging Het
Bean1 A G 8: 104,943,606 (GRCm39) T54A probably damaging Het
Cacna1b T A 2: 24,508,330 (GRCm39) I1816F probably damaging Het
Cacna1b C T 2: 24,547,378 (GRCm39) G1202D probably damaging Het
Casp8ap2 A G 4: 32,640,554 (GRCm39) E536G probably damaging Het
Cfap57 A G 4: 118,470,262 (GRCm39) V206A probably benign Het
Clca3a2 A T 3: 144,783,640 (GRCm39) D658E probably damaging Het
Cwc22 A T 2: 77,726,653 (GRCm39) S809T probably benign Het
Cyp2c54 C T 19: 40,060,585 (GRCm39) R132Q possibly damaging Het
Ddx20 A T 3: 105,587,921 (GRCm39) D386E possibly damaging Het
Ddx50 T C 10: 62,478,632 (GRCm39) T185A probably damaging Het
Decr1 G A 4: 15,930,976 (GRCm39) R119* probably null Het
Dnah12 A T 14: 26,437,855 (GRCm39) I495L probably benign Het
Dnah2 G A 11: 69,346,799 (GRCm39) Q2596* probably null Het
Dnajb13 A G 7: 100,156,707 (GRCm39) L123S probably benign Het
Drgx G T 14: 32,369,101 (GRCm39) probably benign Het
Elavl3 G A 9: 21,948,107 (GRCm39) P19L probably benign Het
Fer1l6 T C 15: 58,443,250 (GRCm39) S518P probably benign Het
Fgd3 T C 13: 49,420,105 (GRCm39) S591G probably benign Het
Galnt18 C A 7: 111,071,271 (GRCm39) R566L probably benign Het
Galnt6 A T 15: 100,594,455 (GRCm39) Y525* probably null Het
Gm10036 A T 18: 15,966,359 (GRCm39) Y170F probably benign Het
Hacd2 A G 16: 34,842,921 (GRCm39) D24G unknown Het
Idh3a T C 9: 54,503,325 (GRCm39) M128T possibly damaging Het
Ido1 C T 8: 25,074,565 (GRCm39) M359I probably benign Het
Ikbkb T C 8: 23,171,693 (GRCm39) T185A probably damaging Het
Insl6 C T 19: 29,299,019 (GRCm39) G131D probably damaging Het
Irgm1 A C 11: 48,757,159 (GRCm39) S217R possibly damaging Het
Itga11 T A 9: 62,668,850 (GRCm39) Y702* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kansl2 T C 15: 98,429,724 (GRCm39) M103V probably benign Het
Kcnq2 T C 2: 180,753,836 (GRCm39) N258S possibly damaging Het
Kdm5d A T Y: 940,624 (GRCm39) D1045V probably damaging Het
Lats2 A G 14: 57,937,049 (GRCm39) L480P probably damaging Het
Lin28b T A 10: 45,296,736 (GRCm39) K87N possibly damaging Het
Lpgat1 T A 1: 191,451,682 (GRCm39) W103R probably damaging Het
Lpl G T 8: 69,347,345 (GRCm39) G166C probably damaging Het
Ly75 A T 2: 60,182,469 (GRCm39) Y569N probably damaging Het
Mcm8 A T 2: 132,680,689 (GRCm39) E564D probably damaging Het
Me2 G T 18: 73,918,847 (GRCm39) N411K probably damaging Het
Mn1 A G 5: 111,602,652 (GRCm39) T1297A possibly damaging Het
Mphosph8 T A 14: 56,916,046 (GRCm39) F447L probably benign Het
Nacad T A 11: 6,549,169 (GRCm39) D1294V probably damaging Het
Neu3 A T 7: 99,472,615 (GRCm39) F41I probably damaging Het
Nlrp6 G T 7: 140,503,497 (GRCm39) L534F probably damaging Het
Nrap A G 19: 56,366,575 (GRCm39) M338T probably damaging Het
Nuak1 T C 10: 84,210,979 (GRCm39) K370E probably damaging Het
Or10ab4 T A 7: 107,654,647 (GRCm39) C153S probably benign Het
Or4d10 T A 19: 12,051,639 (GRCm39) D119V probably damaging Het
Or5w8 A G 2: 87,687,632 (GRCm39) T38A probably benign Het
Or6c212 C T 10: 129,558,592 (GRCm39) V274M probably damaging Het
P3h3 T C 6: 124,818,736 (GRCm39) S701G probably benign Het
Pdss2 T C 10: 43,174,908 (GRCm39) M138T possibly damaging Het
Piezo1 C T 8: 123,213,220 (GRCm39) E1848K probably benign Het
Prmt3 T G 7: 49,476,557 (GRCm39) S389A probably benign Het
Prune2 T A 19: 17,099,637 (GRCm39) F1714I probably benign Het
Ptgis A G 2: 167,067,194 (GRCm39) probably null Het
Ptpn20 T C 14: 33,336,416 (GRCm39) V85A probably benign Het
Rabepk A T 2: 34,670,669 (GRCm39) Y264N probably damaging Het
Ralgapa2 A T 2: 146,276,754 (GRCm39) C495* probably null Het
Satb2 A G 1: 56,930,327 (GRCm39) I232T probably benign Het
Selenbp2 A T 3: 94,610,856 (GRCm39) L307F probably damaging Het
Sgpl1 T G 10: 60,949,863 (GRCm39) Y112S probably damaging Het
Slitrk5 T C 14: 111,918,679 (GRCm39) S768P probably benign Het
Smc3 T A 19: 53,619,948 (GRCm39) Y615N probably damaging Het
Spag17 A G 3: 99,934,939 (GRCm39) N715S probably benign Het
Spats2 A G 15: 99,110,157 (GRCm39) E518G probably benign Het
Spats2l A G 1: 57,924,983 (GRCm39) H127R possibly damaging Het
Tenm3 T A 8: 48,731,996 (GRCm39) K1287* probably null Het
Thoc1 T A 18: 9,962,387 (GRCm39) S91T probably benign Het
Thoc6 C T 17: 23,888,911 (GRCm39) G166S probably damaging Het
Tmem107 C A 11: 68,962,087 (GRCm39) T42N possibly damaging Het
Tmprss11c A G 5: 86,385,569 (GRCm39) I288T probably damaging Het
Tnrc18 A G 5: 142,725,248 (GRCm39) F1827S unknown Het
Trmt112 C A 19: 6,887,566 (GRCm39) T5N probably damaging Het
Trp53bp1 A T 2: 121,101,027 (GRCm39) M57K probably benign Het
Ttbk2 C A 2: 120,575,631 (GRCm39) Q1115H probably damaging Het
Ttn C A 2: 76,559,989 (GRCm39) E27725* probably null Het
Ttn A G 2: 76,774,453 (GRCm39) M2151T probably damaging Het
Usp9y A T Y: 1,384,336 (GRCm39) D727E probably damaging Het
Vps13c A G 9: 67,781,173 (GRCm39) T221A probably damaging Het
Zbtb20 A G 16: 43,439,055 (GRCm39) D725G probably damaging Het
Zfp341 A T 2: 154,468,734 (GRCm39) I126F possibly damaging Het
Zfyve16 C T 13: 92,650,402 (GRCm39) A861T probably damaging Het
Other mutations in Dennd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Dennd4a APN 9 64,819,044 (GRCm39) missense probably damaging 1.00
IGL01610:Dennd4a APN 9 64,814,166 (GRCm39) missense probably damaging 0.99
IGL01788:Dennd4a APN 9 64,749,903 (GRCm39) missense probably benign 0.00
IGL01827:Dennd4a APN 9 64,749,843 (GRCm39) nonsense probably null
IGL01828:Dennd4a APN 9 64,749,843 (GRCm39) nonsense probably null
IGL01829:Dennd4a APN 9 64,749,843 (GRCm39) nonsense probably null
IGL01979:Dennd4a APN 9 64,801,691 (GRCm39) missense probably benign 0.00
IGL02100:Dennd4a APN 9 64,816,988 (GRCm39) splice site probably benign
IGL02339:Dennd4a APN 9 64,749,843 (GRCm39) nonsense probably null
IGL02341:Dennd4a APN 9 64,749,843 (GRCm39) nonsense probably null
IGL02584:Dennd4a APN 9 64,758,580 (GRCm39) missense probably damaging 1.00
IGL02607:Dennd4a APN 9 64,769,609 (GRCm39) missense probably damaging 0.99
IGL02654:Dennd4a APN 9 64,817,473 (GRCm39) splice site probably benign
IGL02701:Dennd4a APN 9 64,804,635 (GRCm39) missense possibly damaging 0.50
IGL03051:Dennd4a APN 9 64,769,696 (GRCm39) missense probably damaging 1.00
IGL03257:Dennd4a APN 9 64,779,156 (GRCm39) missense possibly damaging 0.93
IGL03346:Dennd4a APN 9 64,795,808 (GRCm39) missense possibly damaging 0.47
IGL03349:Dennd4a APN 9 64,796,256 (GRCm39) missense probably damaging 1.00
IGL03398:Dennd4a APN 9 64,779,164 (GRCm39) missense probably benign 0.32
R0010:Dennd4a UTSW 9 64,803,997 (GRCm39) missense probably benign 0.00
R0010:Dennd4a UTSW 9 64,803,997 (GRCm39) missense probably benign 0.00
R0129:Dennd4a UTSW 9 64,800,576 (GRCm39) missense probably damaging 1.00
R0220:Dennd4a UTSW 9 64,759,727 (GRCm39) missense probably damaging 1.00
R0396:Dennd4a UTSW 9 64,769,673 (GRCm39) missense probably damaging 1.00
R0881:Dennd4a UTSW 9 64,758,665 (GRCm39) critical splice donor site probably null
R1225:Dennd4a UTSW 9 64,818,957 (GRCm39) missense probably benign 0.03
R1311:Dennd4a UTSW 9 64,817,286 (GRCm39) missense probably benign 0.34
R1448:Dennd4a UTSW 9 64,813,327 (GRCm39) missense possibly damaging 0.95
R1450:Dennd4a UTSW 9 64,818,947 (GRCm39) missense probably benign 0.03
R1630:Dennd4a UTSW 9 64,779,164 (GRCm39) missense probably benign 0.32
R1709:Dennd4a UTSW 9 64,796,887 (GRCm39) missense possibly damaging 0.92
R1824:Dennd4a UTSW 9 64,766,640 (GRCm39) critical splice donor site probably null
R1851:Dennd4a UTSW 9 64,769,312 (GRCm39) missense probably damaging 1.00
R1870:Dennd4a UTSW 9 64,804,516 (GRCm39) missense probably benign 0.00
R1900:Dennd4a UTSW 9 64,804,618 (GRCm39) missense probably damaging 0.99
R1911:Dennd4a UTSW 9 64,796,368 (GRCm39) missense probably damaging 1.00
R1938:Dennd4a UTSW 9 64,749,772 (GRCm39) missense probably damaging 1.00
R1954:Dennd4a UTSW 9 64,759,749 (GRCm39) missense probably benign 0.02
R1955:Dennd4a UTSW 9 64,759,749 (GRCm39) missense probably benign 0.02
R2049:Dennd4a UTSW 9 64,796,887 (GRCm39) missense possibly damaging 0.92
R2129:Dennd4a UTSW 9 64,813,256 (GRCm39) splice site probably null
R2138:Dennd4a UTSW 9 64,796,619 (GRCm39) missense probably damaging 1.00
R2929:Dennd4a UTSW 9 64,759,699 (GRCm39) missense possibly damaging 0.85
R3083:Dennd4a UTSW 9 64,813,363 (GRCm39) missense probably benign 0.03
R3108:Dennd4a UTSW 9 64,819,669 (GRCm39) missense probably benign 0.23
R3176:Dennd4a UTSW 9 64,796,275 (GRCm39) missense probably damaging 1.00
R3177:Dennd4a UTSW 9 64,796,275 (GRCm39) missense probably damaging 1.00
R3276:Dennd4a UTSW 9 64,796,275 (GRCm39) missense probably damaging 1.00
R3277:Dennd4a UTSW 9 64,796,275 (GRCm39) missense probably damaging 1.00
R3890:Dennd4a UTSW 9 64,779,310 (GRCm39) missense probably damaging 1.00
R3953:Dennd4a UTSW 9 64,759,857 (GRCm39) missense probably damaging 1.00
R3963:Dennd4a UTSW 9 64,769,613 (GRCm39) missense probably damaging 1.00
R4059:Dennd4a UTSW 9 64,819,174 (GRCm39) missense possibly damaging 0.92
R4499:Dennd4a UTSW 9 64,817,405 (GRCm39) missense possibly damaging 0.78
R4500:Dennd4a UTSW 9 64,817,405 (GRCm39) missense possibly damaging 0.78
R4501:Dennd4a UTSW 9 64,817,405 (GRCm39) missense possibly damaging 0.78
R4671:Dennd4a UTSW 9 64,801,689 (GRCm39) missense probably benign
R4701:Dennd4a UTSW 9 64,804,639 (GRCm39) missense possibly damaging 0.91
R4821:Dennd4a UTSW 9 64,804,531 (GRCm39) missense possibly damaging 0.92
R4829:Dennd4a UTSW 9 64,796,338 (GRCm39) missense probably damaging 1.00
R4876:Dennd4a UTSW 9 64,803,872 (GRCm39) missense probably benign
R4881:Dennd4a UTSW 9 64,746,126 (GRCm39) missense possibly damaging 0.77
R5225:Dennd4a UTSW 9 64,796,210 (GRCm39) missense possibly damaging 0.94
R5557:Dennd4a UTSW 9 64,811,509 (GRCm39) missense probably benign 0.07
R5649:Dennd4a UTSW 9 64,758,491 (GRCm39) splice site probably null
R5868:Dennd4a UTSW 9 64,804,011 (GRCm39) missense probably benign 0.02
R5876:Dennd4a UTSW 9 64,819,037 (GRCm39) missense probably damaging 1.00
R6052:Dennd4a UTSW 9 64,794,227 (GRCm39) missense probably damaging 1.00
R6411:Dennd4a UTSW 9 64,779,181 (GRCm39) missense probably benign 0.04
R6596:Dennd4a UTSW 9 64,759,702 (GRCm39) missense probably damaging 1.00
R6668:Dennd4a UTSW 9 64,794,247 (GRCm39) missense probably damaging 1.00
R6915:Dennd4a UTSW 9 64,759,771 (GRCm39) nonsense probably null
R7056:Dennd4a UTSW 9 64,814,205 (GRCm39) missense possibly damaging 0.89
R7107:Dennd4a UTSW 9 64,801,681 (GRCm39) missense possibly damaging 0.79
R7203:Dennd4a UTSW 9 64,803,756 (GRCm39) missense probably benign 0.05
R7238:Dennd4a UTSW 9 64,769,238 (GRCm39) missense probably damaging 1.00
R7373:Dennd4a UTSW 9 64,804,551 (GRCm39) missense probably benign 0.01
R7454:Dennd4a UTSW 9 64,759,852 (GRCm39) missense probably damaging 1.00
R7546:Dennd4a UTSW 9 64,780,326 (GRCm39) missense probably damaging 1.00
R7590:Dennd4a UTSW 9 64,795,869 (GRCm39) missense probably benign 0.01
R7662:Dennd4a UTSW 9 64,759,713 (GRCm39) missense probably damaging 1.00
R7782:Dennd4a UTSW 9 64,814,202 (GRCm39) missense probably damaging 0.98
R7909:Dennd4a UTSW 9 64,780,275 (GRCm39) critical splice acceptor site probably null
R7976:Dennd4a UTSW 9 64,759,794 (GRCm39) missense possibly damaging 0.95
R8026:Dennd4a UTSW 9 64,780,312 (GRCm39) missense probably damaging 1.00
R8034:Dennd4a UTSW 9 64,795,850 (GRCm39) missense probably benign 0.01
R8089:Dennd4a UTSW 9 64,756,457 (GRCm39) missense probably damaging 1.00
R8298:Dennd4a UTSW 9 64,814,157 (GRCm39) missense probably benign 0.00
R8397:Dennd4a UTSW 9 64,796,391 (GRCm39) missense probably benign
R8425:Dennd4a UTSW 9 64,746,256 (GRCm39) missense probably damaging 1.00
R8495:Dennd4a UTSW 9 64,794,161 (GRCm39) missense probably damaging 1.00
R8855:Dennd4a UTSW 9 64,819,672 (GRCm39) missense probably benign
R9219:Dennd4a UTSW 9 64,796,376 (GRCm39) missense probably damaging 0.96
R9275:Dennd4a UTSW 9 64,749,906 (GRCm39) missense probably damaging 1.00
R9376:Dennd4a UTSW 9 64,819,974 (GRCm39) missense probably benign 0.00
R9485:Dennd4a UTSW 9 64,814,388 (GRCm39) nonsense probably null
R9672:Dennd4a UTSW 9 64,800,640 (GRCm39) missense probably benign
R9746:Dennd4a UTSW 9 64,801,793 (GRCm39) missense probably benign
X0026:Dennd4a UTSW 9 64,804,602 (GRCm39) missense possibly damaging 0.67
Z1088:Dennd4a UTSW 9 64,779,304 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATCCCCTGTAGCTGGGTG -3'
(R):5'- CAGTATCAGTCACTCCACCG -3'

Sequencing Primer
(F):5'- GTTCTAGAACAAGTAGGCCTGCTAC -3'
(R):5'- GTATCAGTCACTCCACCGACAAC -3'
Posted On 2017-06-29