Incidental Mutation 'R4715:Dnah14'
ID 353918
Institutional Source Beutler Lab
Gene Symbol Dnah14
Ensembl Gene ENSMUSG00000047369
Gene Name dynein, axonemal, heavy chain 14
Synonyms A230079K17Rik, Dnahc14, Gm980, LOC381311
MMRRC Submission 041982-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4715 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 181404158-181642306 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181584788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 3173 (D3173G)
Ref Sequence ENSEMBL: ENSMUSP00000146843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000208001]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160345
SMART Domains Protein: ENSMUSP00000124817
Gene: ENSMUSG00000047369

DomainStartEndE-ValueType
Pfam:MT 46 381 2.1e-41 PFAM
Pfam:AAA_9 401 524 8.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208001
AA Change: D3173G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.4058 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 92% (86/93)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A C 19: 43,805,321 (GRCm39) E725A possibly damaging Het
Abcc5 G T 16: 20,217,626 (GRCm39) L362I probably damaging Het
Ammecr1l C T 18: 31,907,706 (GRCm39) R179* probably null Het
Arap2 G T 5: 62,906,437 (GRCm39) T194K probably benign Het
Atf2 C A 2: 73,653,644 (GRCm39) V282F probably damaging Het
Atosa T A 9: 74,920,250 (GRCm39) W799R probably damaging Het
Atp1a1 T C 3: 101,499,122 (GRCm39) E159G possibly damaging Het
B4galt2 T C 4: 117,734,376 (GRCm39) S258G possibly damaging Het
Bptf G T 11: 106,938,007 (GRCm39) H2695N probably damaging Het
Casq2 T C 3: 102,017,560 (GRCm39) V80A probably benign Het
Cdc42ep3 G A 17: 79,642,887 (GRCm39) A11V probably benign Het
Cdh4 A T 2: 179,422,260 (GRCm39) H128L probably benign Het
Cdk5rap1 C A 2: 154,203,755 (GRCm39) *191L probably null Het
Cfdp1 G A 8: 112,557,523 (GRCm39) T206I probably benign Het
Cgn C A 3: 94,686,748 (GRCm39) G185W probably damaging Het
Clpx A C 9: 65,219,396 (GRCm39) R231S possibly damaging Het
Copg1 T A 6: 87,889,268 (GRCm39) L870* probably null Het
Cyp4a10 A T 4: 115,382,535 (GRCm39) D275V probably benign Het
Dip2a T C 10: 76,132,240 (GRCm39) T504A probably benign Het
Dmxl2 A C 9: 54,353,689 (GRCm39) probably null Het
Dnaaf5 A T 5: 139,163,755 (GRCm39) I671F probably damaging Het
Dock2 T C 11: 34,244,118 (GRCm39) Y1074C probably damaging Het
Dthd1 A C 5: 63,045,530 (GRCm39) M765L probably benign Het
E2f3 A C 13: 30,095,258 (GRCm39) C220W probably damaging Het
Elf3 C T 1: 135,185,490 (GRCm39) S8N probably damaging Het
F2rl1 A T 13: 95,649,775 (GRCm39) V369E probably damaging Het
Fpr-rs7 C T 17: 20,333,690 (GRCm39) G267R probably benign Het
Ggact A T 14: 123,129,047 (GRCm39) L56Q possibly damaging Het
Gm5546 T C 3: 104,273,824 (GRCm39) noncoding transcript Het
Gm8267 A G 14: 44,955,292 (GRCm39) V243A probably benign Het
Gtf2h1 A G 7: 46,464,836 (GRCm39) T424A possibly damaging Het
Gucy1b2 A G 14: 62,660,466 (GRCm39) V140A possibly damaging Het
Htatip2 T C 7: 49,420,592 (GRCm39) L146P probably damaging Het
Htr1b T C 9: 81,513,563 (GRCm39) D348G possibly damaging Het
Ifi205 T C 1: 173,855,887 (GRCm39) I48V possibly damaging Het
Igkv18-36 C T 6: 69,969,575 (GRCm39) R72K probably damaging Het
Kcnk7 T C 19: 5,756,281 (GRCm39) L169P probably damaging Het
Klf17 T C 4: 117,617,733 (GRCm39) D208G probably benign Het
Ltn1 A G 16: 87,215,382 (GRCm39) F418L probably damaging Het
Map4k4 G A 1: 40,058,724 (GRCm39) V1040I probably damaging Het
Mark1 A G 1: 184,644,329 (GRCm39) V445A probably benign Het
Med11 T C 11: 70,344,022 (GRCm39) I114T probably benign Het
Moxd2 A G 6: 40,864,181 (GRCm39) V83A probably damaging Het
Mrpl33 A G 5: 31,773,702 (GRCm39) probably benign Het
Mrps27 A G 13: 99,551,323 (GRCm39) probably null Het
Nop58 T C 1: 59,735,185 (GRCm39) V75A probably benign Het
Or13p5 T C 4: 118,591,852 (GRCm39) L42P probably damaging Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or2t46 A G 11: 58,472,255 (GRCm39) D195G probably damaging Het
Or4k42 A C 2: 111,320,089 (GRCm39) M138R probably benign Het
Or7g19 A G 9: 18,856,742 (GRCm39) H266R probably benign Het
Or7g26 C A 9: 19,230,443 (GRCm39) F210L probably benign Het
Pdzd2 G T 15: 12,419,602 (GRCm39) N263K possibly damaging Het
Podnl1 C A 8: 84,852,690 (GRCm39) probably benign Het
Prkd3 G T 17: 79,259,366 (GRCm39) H864N possibly damaging Het
Ptprd T C 4: 76,025,570 (GRCm39) T543A probably benign Het
Pum2 T A 12: 8,797,272 (GRCm39) I788N probably damaging Het
Ralgapa1 T A 12: 55,740,243 (GRCm39) N1328I probably damaging Het
Rhoc T C 3: 104,701,355 (GRCm39) L193P probably damaging Het
Rif1 T C 2: 51,963,151 (GRCm39) probably benign Het
Rspo2 A T 15: 42,939,300 (GRCm39) C163* probably null Het
Sco1 A G 11: 66,947,425 (GRCm39) Y204C probably damaging Het
Shc2 T C 10: 79,458,213 (GRCm39) K490R probably benign Het
Siglec1 T C 2: 130,916,356 (GRCm39) D1198G probably damaging Het
Slc25a18 T C 6: 120,763,051 (GRCm39) V31A probably damaging Het
Smpd5 A T 15: 76,179,893 (GRCm39) I112L probably benign Het
Synpr CT C 14: 13,285,198 (GRCm38) probably null Het
Tdrd9 T G 12: 112,008,123 (GRCm39) S988A probably benign Het
Tiam2 T A 17: 3,504,443 (GRCm39) F982I probably damaging Het
Tmc3 G A 7: 83,271,604 (GRCm39) V919I probably benign Het
Tmed2b A T 9: 33,639,784 (GRCm39) noncoding transcript Het
Tmem200c A T 17: 69,147,465 (GRCm39) D16V probably damaging Het
Tmem37 A T 1: 119,995,935 (GRCm39) D47E probably damaging Het
Top3a T A 11: 60,633,823 (GRCm39) R733* probably null Het
Treh T C 9: 44,594,615 (GRCm39) V8A probably benign Het
Trim17 A C 11: 58,859,276 (GRCm39) probably benign Het
Ubash3b T C 9: 40,927,896 (GRCm39) K471E probably damaging Het
Usp8 T A 2: 126,571,142 (GRCm39) L144Q possibly damaging Het
Wnk2 T A 13: 49,300,708 (GRCm39) M1L unknown Het
Yju2b A G 8: 84,990,503 (GRCm39) I43T probably damaging Het
Other mutations in Dnah14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Dnah14 APN 1 181,579,611 (GRCm39) missense probably benign 0.17
IGL01764:Dnah14 APN 1 181,572,342 (GRCm39) missense probably benign 0.00
IGL03218:Dnah14 APN 1 181,582,834 (GRCm39) missense probably benign 0.02
IGL03290:Dnah14 APN 1 181,591,543 (GRCm39) splice site probably benign
IGL03384:Dnah14 APN 1 181,573,514 (GRCm39) missense probably benign 0.03
R0009:Dnah14 UTSW 1 181,596,972 (GRCm39) splice site probably benign
R0125:Dnah14 UTSW 1 181,579,628 (GRCm39) missense probably damaging 0.99
R0579:Dnah14 UTSW 1 181,572,312 (GRCm39) missense possibly damaging 0.72
R0973:Dnah14 UTSW 1 181,579,710 (GRCm39) missense probably damaging 1.00
R0973:Dnah14 UTSW 1 181,579,710 (GRCm39) missense probably damaging 1.00
R0974:Dnah14 UTSW 1 181,579,710 (GRCm39) missense probably damaging 1.00
R1609:Dnah14 UTSW 1 181,577,742 (GRCm39) missense probably damaging 0.97
R1860:Dnah14 UTSW 1 181,591,525 (GRCm39) missense probably damaging 1.00
R2050:Dnah14 UTSW 1 181,580,127 (GRCm39) missense probably damaging 1.00
R2974:Dnah14 UTSW 1 181,582,806 (GRCm39) critical splice acceptor site probably null
R5076:Dnah14 UTSW 1 181,584,799 (GRCm39) missense probably benign 0.01
R5424:Dnah14 UTSW 1 181,590,875 (GRCm39) missense possibly damaging 0.95
R5808:Dnah14 UTSW 1 181,568,724 (GRCm39) missense possibly damaging 0.72
R5997:Dnah14 UTSW 1 181,597,670 (GRCm39) missense probably benign 0.00
R6052:Dnah14 UTSW 1 181,494,052 (GRCm39) missense possibly damaging 0.50
R6061:Dnah14 UTSW 1 181,536,616 (GRCm39) missense probably damaging 1.00
R6089:Dnah14 UTSW 1 181,577,719 (GRCm39) missense probably damaging 1.00
R6092:Dnah14 UTSW 1 181,449,398 (GRCm39) missense probably benign 0.13
R6145:Dnah14 UTSW 1 181,493,982 (GRCm39) missense probably benign 0.00
R6163:Dnah14 UTSW 1 181,493,926 (GRCm39) missense probably benign 0.33
R6246:Dnah14 UTSW 1 181,508,453 (GRCm39) missense probably benign 0.00
R6302:Dnah14 UTSW 1 181,428,771 (GRCm39) missense possibly damaging 0.96
R6306:Dnah14 UTSW 1 181,412,589 (GRCm39) frame shift probably null
R6326:Dnah14 UTSW 1 181,611,121 (GRCm39) missense probably damaging 1.00
R6348:Dnah14 UTSW 1 181,454,285 (GRCm39) missense possibly damaging 0.83
R6367:Dnah14 UTSW 1 181,582,951 (GRCm39) splice site probably null
R6376:Dnah14 UTSW 1 181,433,459 (GRCm39) missense possibly damaging 0.79
R6389:Dnah14 UTSW 1 181,478,767 (GRCm39) critical splice donor site probably null
R6433:Dnah14 UTSW 1 181,479,222 (GRCm39) missense probably damaging 0.99
R6454:Dnah14 UTSW 1 181,611,270 (GRCm39) missense probably damaging 1.00
R6476:Dnah14 UTSW 1 181,572,333 (GRCm39) missense probably benign 0.26
R6523:Dnah14 UTSW 1 181,471,186 (GRCm39) missense probably benign 0.00
R6529:Dnah14 UTSW 1 181,494,034 (GRCm39) missense probably damaging 0.98
R6538:Dnah14 UTSW 1 181,412,550 (GRCm39) missense unknown
R6546:Dnah14 UTSW 1 181,566,552 (GRCm39) missense probably damaging 1.00
R6752:Dnah14 UTSW 1 181,421,017 (GRCm39) missense probably benign 0.07
R6762:Dnah14 UTSW 1 181,584,824 (GRCm39) missense probably damaging 1.00
R6786:Dnah14 UTSW 1 181,468,970 (GRCm39) missense probably benign 0.21
R6849:Dnah14 UTSW 1 181,636,510 (GRCm39) missense probably benign 0.00
R6877:Dnah14 UTSW 1 181,455,997 (GRCm39) missense possibly damaging 0.82
R6912:Dnah14 UTSW 1 181,577,748 (GRCm39) missense possibly damaging 0.83
R6919:Dnah14 UTSW 1 181,412,631 (GRCm39) missense probably benign 0.04
R6924:Dnah14 UTSW 1 181,455,517 (GRCm39) missense probably benign 0.04
R6957:Dnah14 UTSW 1 181,612,740 (GRCm39) missense possibly damaging 0.92
R6980:Dnah14 UTSW 1 181,475,795 (GRCm39) missense probably benign 0.00
R7018:Dnah14 UTSW 1 181,454,509 (GRCm39) missense possibly damaging 0.55
R7046:Dnah14 UTSW 1 181,450,568 (GRCm39) missense probably benign 0.01
R7058:Dnah14 UTSW 1 181,525,614 (GRCm39) missense probably benign 0.00
R7068:Dnah14 UTSW 1 181,597,355 (GRCm39) missense probably benign 0.35
R7115:Dnah14 UTSW 1 181,547,710 (GRCm39) missense probably damaging 1.00
R7130:Dnah14 UTSW 1 181,573,523 (GRCm39) nonsense probably null
R7165:Dnah14 UTSW 1 181,532,100 (GRCm39) missense probably benign 0.00
R7169:Dnah14 UTSW 1 181,529,930 (GRCm39) missense probably benign 0.00
R7184:Dnah14 UTSW 1 181,532,094 (GRCm39) nonsense probably null
R7232:Dnah14 UTSW 1 181,584,928 (GRCm39) missense probably damaging 1.00
R7260:Dnah14 UTSW 1 181,534,309 (GRCm39) missense probably damaging 0.99
R7276:Dnah14 UTSW 1 181,513,372 (GRCm39) missense probably benign 0.41
R7290:Dnah14 UTSW 1 181,455,739 (GRCm39) missense probably benign 0.20
R7314:Dnah14 UTSW 1 181,612,819 (GRCm39) splice site probably null
R7326:Dnah14 UTSW 1 181,425,968 (GRCm39) missense probably benign 0.02
R7336:Dnah14 UTSW 1 181,625,299 (GRCm39) missense probably damaging 0.96
R7363:Dnah14 UTSW 1 181,518,089 (GRCm39) splice site probably null
R7371:Dnah14 UTSW 1 181,454,450 (GRCm39) missense probably benign 0.05
R7376:Dnah14 UTSW 1 181,590,967 (GRCm39) missense probably benign 0.03
R7418:Dnah14 UTSW 1 181,444,307 (GRCm39) missense possibly damaging 0.92
R7473:Dnah14 UTSW 1 181,579,704 (GRCm39) missense probably damaging 0.99
R7514:Dnah14 UTSW 1 181,455,632 (GRCm39) missense probably damaging 0.96
R7555:Dnah14 UTSW 1 181,597,619 (GRCm39) missense probably benign 0.26
R7641:Dnah14 UTSW 1 181,535,098 (GRCm39) missense probably benign 0.01
R7663:Dnah14 UTSW 1 181,579,720 (GRCm39) splice site probably null
R7674:Dnah14 UTSW 1 181,535,098 (GRCm39) missense probably benign 0.01
R7680:Dnah14 UTSW 1 181,513,365 (GRCm39) missense probably benign 0.15
R7709:Dnah14 UTSW 1 181,530,049 (GRCm39) critical splice donor site probably null
R7842:Dnah14 UTSW 1 181,455,463 (GRCm39) missense probably damaging 0.99
R7861:Dnah14 UTSW 1 181,444,324 (GRCm39) missense probably damaging 1.00
R7988:Dnah14 UTSW 1 181,611,139 (GRCm39) missense probably damaging 0.97
R8016:Dnah14 UTSW 1 181,475,876 (GRCm39) missense probably benign 0.05
R8042:Dnah14 UTSW 1 181,471,196 (GRCm39) critical splice donor site probably null
R8071:Dnah14 UTSW 1 181,443,459 (GRCm39) missense possibly damaging 0.84
R8086:Dnah14 UTSW 1 181,593,797 (GRCm39) missense probably damaging 1.00
R8095:Dnah14 UTSW 1 181,633,597 (GRCm39) nonsense probably null
R8139:Dnah14 UTSW 1 181,582,853 (GRCm39) missense probably damaging 1.00
R8176:Dnah14 UTSW 1 181,484,598 (GRCm39) missense probably damaging 0.96
R8193:Dnah14 UTSW 1 181,515,770 (GRCm39) missense probably damaging 1.00
R8197:Dnah14 UTSW 1 181,517,666 (GRCm39) missense possibly damaging 0.94
R8209:Dnah14 UTSW 1 181,623,110 (GRCm39) missense possibly damaging 0.69
R8226:Dnah14 UTSW 1 181,623,110 (GRCm39) missense possibly damaging 0.69
R8251:Dnah14 UTSW 1 181,492,430 (GRCm39) missense probably damaging 1.00
R8264:Dnah14 UTSW 1 181,572,357 (GRCm39) missense probably damaging 0.99
R8284:Dnah14 UTSW 1 181,601,376 (GRCm39) missense probably benign 0.03
R8289:Dnah14 UTSW 1 181,543,780 (GRCm39) nonsense probably null
R8323:Dnah14 UTSW 1 181,532,109 (GRCm39) missense probably benign 0.01
R8442:Dnah14 UTSW 1 181,568,849 (GRCm39) missense probably damaging 0.97
R8458:Dnah14 UTSW 1 181,633,577 (GRCm39) missense
R8507:Dnah14 UTSW 1 181,468,979 (GRCm39) missense probably benign 0.02
R8509:Dnah14 UTSW 1 181,642,220 (GRCm39) missense
R8520:Dnah14 UTSW 1 181,481,203 (GRCm39) missense probably damaging 1.00
R8530:Dnah14 UTSW 1 181,492,511 (GRCm39) missense probably damaging 1.00
R8703:Dnah14 UTSW 1 181,493,576 (GRCm39) nonsense probably null
R8710:Dnah14 UTSW 1 181,517,876 (GRCm39) missense probably benign 0.04
R8752:Dnah14 UTSW 1 181,455,581 (GRCm39) missense probably benign 0.00
R8792:Dnah14 UTSW 1 181,642,189 (GRCm39) missense
R8797:Dnah14 UTSW 1 181,465,412 (GRCm39) missense probably benign 0.19
R8821:Dnah14 UTSW 1 181,619,569 (GRCm39) nonsense probably null
R8834:Dnah14 UTSW 1 181,444,315 (GRCm39) missense possibly damaging 0.83
R8913:Dnah14 UTSW 1 181,553,063 (GRCm39) missense probably benign 0.01
R8925:Dnah14 UTSW 1 181,508,321 (GRCm39) missense probably damaging 1.00
R8927:Dnah14 UTSW 1 181,508,321 (GRCm39) missense probably damaging 1.00
R8934:Dnah14 UTSW 1 181,450,288 (GRCm39) missense possibly damaging 0.84
R9090:Dnah14 UTSW 1 181,597,325 (GRCm39) missense probably benign 0.33
R9169:Dnah14 UTSW 1 181,433,381 (GRCm39) missense probably benign 0.06
R9199:Dnah14 UTSW 1 181,478,566 (GRCm39) missense possibly damaging 0.50
R9212:Dnah14 UTSW 1 181,628,852 (GRCm39) missense possibly damaging 0.95
R9213:Dnah14 UTSW 1 181,444,205 (GRCm39) critical splice donor site probably null
R9271:Dnah14 UTSW 1 181,597,325 (GRCm39) missense probably benign 0.33
R9282:Dnah14 UTSW 1 181,642,077 (GRCm39) missense
R9350:Dnah14 UTSW 1 181,562,369 (GRCm39) missense possibly damaging 0.79
R9358:Dnah14 UTSW 1 181,536,598 (GRCm39) missense probably benign 0.01
R9436:Dnah14 UTSW 1 181,508,348 (GRCm39) missense probably damaging 1.00
R9484:Dnah14 UTSW 1 181,625,311 (GRCm39) missense probably benign 0.01
R9484:Dnah14 UTSW 1 181,517,773 (GRCm39) missense probably benign 0.45
R9486:Dnah14 UTSW 1 181,508,494 (GRCm39) missense possibly damaging 0.68
R9546:Dnah14 UTSW 1 181,420,992 (GRCm39) critical splice acceptor site probably null
R9547:Dnah14 UTSW 1 181,420,992 (GRCm39) critical splice acceptor site probably null
R9578:Dnah14 UTSW 1 181,502,007 (GRCm39) missense probably benign 0.16
R9654:Dnah14 UTSW 1 181,593,904 (GRCm39) missense probably benign 0.01
R9681:Dnah14 UTSW 1 181,562,414 (GRCm39) missense possibly damaging 0.91
R9683:Dnah14 UTSW 1 181,426,509 (GRCm39) missense probably benign 0.01
R9687:Dnah14 UTSW 1 181,425,978 (GRCm39) missense probably benign 0.01
R9718:Dnah14 UTSW 1 181,450,544 (GRCm39) missense probably benign 0.08
R9751:Dnah14 UTSW 1 181,619,610 (GRCm39) missense probably damaging 1.00
R9757:Dnah14 UTSW 1 181,513,349 (GRCm39) missense probably benign 0.03
RF007:Dnah14 UTSW 1 181,513,374 (GRCm39) missense probably benign 0.00
RF012:Dnah14 UTSW 1 181,455,463 (GRCm39) missense probably damaging 0.99
Z1176:Dnah14 UTSW 1 181,584,916 (GRCm39) missense possibly damaging 0.83
Z1177:Dnah14 UTSW 1 181,517,885 (GRCm39) missense probably benign 0.03
Z1177:Dnah14 UTSW 1 181,593,869 (GRCm39) missense probably damaging 1.00
Z1177:Dnah14 UTSW 1 181,590,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATAGCTCCAATGTAGAGACCATTC -3'
(R):5'- CTGCCATCACGTCAATTAAGG -3'

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