Incidental Mutation 'R5933:Dnah7c'
ID 461970
Institutional Source Beutler Lab
Gene Symbol Dnah7c
Ensembl Gene ENSMUSG00000101337
Gene Name dynein, axonemal, heavy chain 7C
Synonyms Dnahc7c
MMRRC Submission 044127-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R5933 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 46464752-46846636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46558375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 494 (Y494H)
Ref Sequence ENSEMBL: ENSMUSP00000140430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189749]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000189749
AA Change: Y494H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: Y494H

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 37 48 N/A INTRINSIC
coiled coil region 714 746 N/A INTRINSIC
Pfam:DHC_N2 754 1167 2.2e-138 PFAM
AAA 1320 1459 4e-3 SMART
Blast:AAA 1601 1829 4e-87 BLAST
AAA 1968 2116 8.7e-4 SMART
Pfam:AAA_8 2303 2574 6.2e-73 PFAM
Pfam:MT 2586 2935 5.4e-52 PFAM
Pfam:AAA_9 2953 3183 7.4e-63 PFAM
Pfam:Dynein_heavy 3312 4021 1.3e-250 PFAM
Meta Mutation Damage Score 0.2614 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 94% (99/105)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,776,109 (GRCm39) P1766L probably damaging Het
Abca13 A G 11: 9,199,658 (GRCm39) Q119R possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aipl1 A C 11: 71,921,108 (GRCm39) C237G probably benign Het
Ankdd1a C T 9: 65,416,978 (GRCm39) A154T probably benign Het
Arglu1 T C 8: 8,740,047 (GRCm39) S91G probably benign Het
Arhgef33 C A 17: 80,644,709 (GRCm39) H13N probably benign Het
Atp1a4 A G 1: 172,059,841 (GRCm39) I796T possibly damaging Het
Birc6 C G 17: 74,906,232 (GRCm39) S1374R probably damaging Het
Birc6 T A 17: 74,906,233 (GRCm39) S72T probably damaging Het
Bmpr1b T C 3: 141,577,128 (GRCm39) *59W probably null Het
Btbd16 A T 7: 130,386,011 (GRCm39) Q63L probably damaging Het
Cacna1c C T 6: 118,589,541 (GRCm39) R1592H probably damaging Het
Caps2 G A 10: 112,051,351 (GRCm39) E541K probably benign Het
Card9 T C 2: 26,242,509 (GRCm39) E500G probably damaging Het
Carnmt1 T C 19: 18,681,469 (GRCm39) V396A probably benign Het
Ccnl1 T A 3: 65,855,763 (GRCm39) K320M probably damaging Het
Cdh20 A C 1: 104,912,396 (GRCm39) D550A probably damaging Het
Cdhr1 T A 14: 36,811,419 (GRCm39) T231S probably benign Het
Cenpe T C 3: 134,967,389 (GRCm39) V2177A probably benign Het
Cfap69 A G 5: 5,690,183 (GRCm39) C161R probably damaging Het
Ctsd C T 7: 141,930,316 (GRCm39) V403I probably benign Het
Cyth1 C T 11: 118,076,585 (GRCm39) probably null Het
Dazl A T 17: 50,594,781 (GRCm39) probably null Het
Disp3 A T 4: 148,325,770 (GRCm39) C1329* probably null Het
Dld C T 12: 31,383,982 (GRCm39) V374I probably benign Het
Dnttip2 T A 3: 122,069,217 (GRCm39) M144K probably benign Het
Drc1 A T 5: 30,502,873 (GRCm39) D132V probably damaging Het
Enpp6 A G 8: 47,519,039 (GRCm39) D269G probably benign Het
Ephx4 T A 5: 107,551,631 (GRCm39) probably null Het
Evl T C 12: 108,649,516 (GRCm39) S345P possibly damaging Het
Fam193a A T 5: 34,623,024 (GRCm39) D1204V probably damaging Het
Fat2 A T 11: 55,174,877 (GRCm39) D1945E probably damaging Het
Fat4 T C 3: 39,005,524 (GRCm39) probably null Het
Fbln7 A T 2: 128,719,418 (GRCm39) M72L probably benign Het
Flnc T C 6: 29,441,105 (GRCm39) V353A probably damaging Het
Fry T C 5: 150,314,265 (GRCm39) probably benign Het
Galnt14 A T 17: 73,833,300 (GRCm39) C225S probably benign Het
Gapvd1 T C 2: 34,574,303 (GRCm39) S1265G probably benign Het
Gm13030 A G 4: 138,598,515 (GRCm39) F136S unknown Het
Gucy1a1 T C 3: 82,002,114 (GRCm39) H655R probably damaging Het
Hk1 A G 10: 62,105,773 (GRCm39) L890P probably damaging Het
Igfn1 T A 1: 135,898,341 (GRCm39) R742* probably null Het
Igkv12-49 T C 6: 69,693,553 (GRCm39) noncoding transcript Het
Igkv2-109 T A 6: 68,279,965 (GRCm39) L62Q possibly damaging Het
Itgb3 A G 11: 104,528,805 (GRCm39) T311A possibly damaging Het
Kl A G 5: 150,912,948 (GRCm39) E899G probably damaging Het
Kyat3 A T 3: 142,429,021 (GRCm39) D151V probably damaging Het
Morc2b A T 17: 33,357,583 (GRCm39) M63K possibly damaging Het
Mtbp T A 15: 55,434,723 (GRCm39) F298L possibly damaging Het
Mtmr3 C T 11: 4,448,951 (GRCm39) V272I probably benign Het
Muc4 A G 16: 32,574,480 (GRCm39) T977A probably benign Het
Nebl G A 2: 17,408,998 (GRCm39) H367Y probably benign Het
Nop58 T A 1: 59,743,824 (GRCm39) Y274* probably null Het
Nuak1 T A 10: 84,210,666 (GRCm39) Q474L probably damaging Het
Obscn A G 11: 58,889,331 (GRCm39) S7523P unknown Het
Oosp3 T A 19: 11,682,753 (GRCm39) D140E probably benign Het
Or52z15 T A 7: 103,332,680 (GRCm39) C242S probably damaging Het
Padi2 G A 4: 140,644,952 (GRCm39) R62H probably benign Het
Patl1 A G 19: 11,917,136 (GRCm39) N661S probably benign Het
Pcyox1l G T 18: 61,831,544 (GRCm39) N238K probably benign Het
Pmch A G 10: 87,927,011 (GRCm39) T5A probably benign Het
Polr3h A G 15: 81,800,835 (GRCm39) L169P probably damaging Het
Ptpn4 A G 1: 119,615,453 (GRCm39) V567A probably damaging Het
Rasgrp2 T G 19: 6,452,543 (GRCm39) F39V probably damaging Het
Setd1b G A 5: 123,296,815 (GRCm39) probably benign Het
Sh3glb2 A T 2: 30,240,401 (GRCm39) probably null Het
Slc46a3 A T 5: 147,830,700 (GRCm39) N44K probably benign Het
Slc9b1 T A 3: 135,099,756 (GRCm39) N425K probably benign Het
Slfn14 A T 11: 83,170,288 (GRCm39) V452E probably damaging Het
Slfn8 A T 11: 82,894,161 (GRCm39) M826K probably benign Het
Slit3 G A 11: 35,520,578 (GRCm39) V572M probably benign Het
Smr3a C A 5: 88,155,873 (GRCm39) probably null Het
Snap29 T C 16: 17,224,194 (GRCm39) S70P probably damaging Het
Svopl T A 6: 37,993,949 (GRCm39) probably benign Het
Tbc1d17 A T 7: 44,494,761 (GRCm39) F186I probably damaging Het
Tgm6 T C 2: 129,983,176 (GRCm39) V255A probably damaging Het
Tjp1 G T 7: 64,952,600 (GRCm39) T1498K probably benign Het
Tkfc C A 19: 10,574,711 (GRCm39) E176D probably benign Het
Tmem102 C T 11: 69,694,506 (GRCm39) V489I probably damaging Het
Ttn A G 2: 76,551,781 (GRCm39) V22930A probably damaging Het
Tyms A T 5: 30,278,357 (GRCm39) probably null Het
Uaca T A 9: 60,748,238 (GRCm39) D67E probably damaging Het
Unc119b G A 5: 115,265,508 (GRCm39) probably benign Het
Usp29 A T 7: 6,964,744 (GRCm39) T196S probably benign Het
Usp37 A G 1: 74,525,141 (GRCm39) S228P probably damaging Het
Usp42 C A 5: 143,701,270 (GRCm39) A918S probably benign Het
Vmn2r72 T A 7: 85,387,058 (GRCm39) L835F probably benign Het
Vps13a T C 19: 16,637,894 (GRCm39) T2396A probably benign Het
Whrn A T 4: 63,412,945 (GRCm39) S176T probably damaging Het
Zbtb42 T C 12: 112,647,055 (GRCm39) F410S probably damaging Het
Zfp616 T C 11: 73,973,952 (GRCm39) S74P probably damaging Het
Zswim6 A G 13: 107,880,642 (GRCm39) noncoding transcript Het
Other mutations in Dnah7c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00559:Dnah7c APN 1 46,846,449 (GRCm39) missense possibly damaging 0.72
IGL02958:Dnah7c APN 1 46,696,271 (GRCm39) missense probably damaging 1.00
IGL03035:Dnah7c APN 1 46,563,277 (GRCm39) missense probably benign 0.37
IGL03161:Dnah7c APN 1 46,506,456 (GRCm39) missense probably benign 0.20
IGL03178:Dnah7c APN 1 46,506,525 (GRCm39) missense probably benign
IGL03052:Dnah7c UTSW 1 46,671,309 (GRCm39) missense probably damaging 1.00
R0751:Dnah7c UTSW 1 46,505,065 (GRCm39) missense probably benign
R1029:Dnah7c UTSW 1 46,651,881 (GRCm39) missense probably damaging 1.00
R3104:Dnah7c UTSW 1 46,837,439 (GRCm39) missense probably damaging 0.97
R3977:Dnah7c UTSW 1 46,668,071 (GRCm39) missense possibly damaging 0.75
R4003:Dnah7c UTSW 1 46,720,977 (GRCm39) missense probably damaging 1.00
R4133:Dnah7c UTSW 1 46,705,150 (GRCm39) missense probably benign 0.01
R4303:Dnah7c UTSW 1 46,787,738 (GRCm39) missense probably damaging 1.00
R4329:Dnah7c UTSW 1 46,688,441 (GRCm39) missense probably benign 0.33
R4434:Dnah7c UTSW 1 46,705,442 (GRCm39) missense probably damaging 1.00
R4457:Dnah7c UTSW 1 46,779,781 (GRCm39) missense probably damaging 1.00
R4470:Dnah7c UTSW 1 46,787,795 (GRCm39) missense possibly damaging 0.56
R4507:Dnah7c UTSW 1 46,805,771 (GRCm39) missense probably damaging 1.00
R4527:Dnah7c UTSW 1 46,572,091 (GRCm39) missense probably benign 0.34
R4571:Dnah7c UTSW 1 46,572,376 (GRCm39) missense probably damaging 0.99
R4589:Dnah7c UTSW 1 46,553,743 (GRCm39) nonsense probably null
R4731:Dnah7c UTSW 1 46,809,333 (GRCm39) missense probably damaging 1.00
R4732:Dnah7c UTSW 1 46,809,333 (GRCm39) missense probably damaging 1.00
R4733:Dnah7c UTSW 1 46,809,333 (GRCm39) missense probably damaging 1.00
R4747:Dnah7c UTSW 1 46,572,328 (GRCm39) missense probably damaging 1.00
R4845:Dnah7c UTSW 1 46,832,692 (GRCm39) missense probably damaging 1.00
R4873:Dnah7c UTSW 1 46,728,085 (GRCm39) missense probably benign
R4875:Dnah7c UTSW 1 46,728,085 (GRCm39) missense probably benign
R4916:Dnah7c UTSW 1 46,634,168 (GRCm39) missense probably damaging 1.00
R5241:Dnah7c UTSW 1 46,569,660 (GRCm39) missense probably benign
R5279:Dnah7c UTSW 1 46,558,429 (GRCm39) missense probably benign 0.14
R5327:Dnah7c UTSW 1 46,704,728 (GRCm39) missense probably benign 0.05
R5546:Dnah7c UTSW 1 46,705,477 (GRCm39) missense probably damaging 1.00
R5605:Dnah7c UTSW 1 46,837,395 (GRCm39) missense possibly damaging 0.84
R5637:Dnah7c UTSW 1 46,799,521 (GRCm39) splice site probably null
R5639:Dnah7c UTSW 1 46,778,828 (GRCm39) missense probably benign
R5663:Dnah7c UTSW 1 46,574,308 (GRCm39) missense probably damaging 1.00
R5718:Dnah7c UTSW 1 46,787,826 (GRCm39) missense possibly damaging 0.47
R5759:Dnah7c UTSW 1 46,654,527 (GRCm39) missense probably damaging 1.00
R5771:Dnah7c UTSW 1 46,678,825 (GRCm39) missense probably benign 0.00
R5784:Dnah7c UTSW 1 46,563,228 (GRCm39) missense possibly damaging 0.80
R5800:Dnah7c UTSW 1 46,686,175 (GRCm39) missense probably benign 0.01
R5948:Dnah7c UTSW 1 46,711,657 (GRCm39) missense probably benign 0.21
R6034:Dnah7c UTSW 1 46,496,418 (GRCm39) missense probably benign 0.00
R6034:Dnah7c UTSW 1 46,496,418 (GRCm39) missense probably benign 0.00
R6487:Dnah7c UTSW 1 46,808,284 (GRCm39) missense probably damaging 1.00
R6536:Dnah7c UTSW 1 46,697,450 (GRCm39) missense probably benign 0.00
R6614:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6614:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6615:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6615:Dnah7c UTSW 1 46,554,599 (GRCm39) missense probably benign 0.01
R6615:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6649:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6649:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6650:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6650:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6651:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6651:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6653:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6653:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6714:Dnah7c UTSW 1 46,779,966 (GRCm39) missense probably damaging 0.99
R6729:Dnah7c UTSW 1 46,711,681 (GRCm39) missense possibly damaging 0.46
R6760:Dnah7c UTSW 1 46,688,511 (GRCm39) missense probably benign
R6760:Dnah7c UTSW 1 46,688,500 (GRCm39) missense probably benign
R6763:Dnah7c UTSW 1 46,668,050 (GRCm39) missense possibly damaging 0.60
R6866:Dnah7c UTSW 1 46,696,403 (GRCm39) missense probably damaging 1.00
R6880:Dnah7c UTSW 1 46,566,831 (GRCm39) missense probably damaging 0.97
R6988:Dnah7c UTSW 1 46,705,373 (GRCm39) missense possibly damaging 0.68
R6995:Dnah7c UTSW 1 46,494,973 (GRCm39) missense probably benign 0.07
R7007:Dnah7c UTSW 1 46,571,910 (GRCm39) missense probably benign 0.04
R7086:Dnah7c UTSW 1 46,789,285 (GRCm39) missense probably benign 0.00
R7128:Dnah7c UTSW 1 46,566,645 (GRCm39) missense probably benign
R7131:Dnah7c UTSW 1 46,720,932 (GRCm39) missense probably benign 0.00
R7135:Dnah7c UTSW 1 46,572,368 (GRCm39) missense probably damaging 1.00
R7171:Dnah7c UTSW 1 46,719,898 (GRCm39) missense probably damaging 0.99
R7176:Dnah7c UTSW 1 46,469,969 (GRCm39) missense probably benign 0.00
R7221:Dnah7c UTSW 1 46,494,937 (GRCm39) missense possibly damaging 0.87
R7310:Dnah7c UTSW 1 46,636,127 (GRCm39) missense possibly damaging 0.94
R7319:Dnah7c UTSW 1 46,819,935 (GRCm39) missense probably benign 0.31
R7319:Dnah7c UTSW 1 46,823,608 (GRCm39) missense possibly damaging 0.95
R7404:Dnah7c UTSW 1 46,705,223 (GRCm39) missense possibly damaging 0.52
R7452:Dnah7c UTSW 1 46,686,196 (GRCm39) missense possibly damaging 0.91
R7515:Dnah7c UTSW 1 46,496,450 (GRCm39) missense probably benign
R7534:Dnah7c UTSW 1 46,809,227 (GRCm39) missense probably damaging 0.98
R7542:Dnah7c UTSW 1 46,823,658 (GRCm39) missense probably benign 0.00
R7605:Dnah7c UTSW 1 46,671,470 (GRCm39) missense probably damaging 1.00
R7643:Dnah7c UTSW 1 46,641,973 (GRCm39) missense probably benign
R7770:Dnah7c UTSW 1 46,665,460 (GRCm39) splice site probably null
R7884:Dnah7c UTSW 1 46,830,929 (GRCm39) missense probably benign 0.23
R7899:Dnah7c UTSW 1 46,553,861 (GRCm39) missense probably benign 0.00
R8025:Dnah7c UTSW 1 46,496,456 (GRCm39) missense probably benign 0.01
R8057:Dnah7c UTSW 1 46,728,112 (GRCm39) missense possibly damaging 0.52
R8191:Dnah7c UTSW 1 46,646,618 (GRCm39) missense possibly damaging 0.56
R8255:Dnah7c UTSW 1 46,698,589 (GRCm39) missense probably damaging 1.00
R8428:Dnah7c UTSW 1 46,711,536 (GRCm39) missense probably damaging 1.00
R8441:Dnah7c UTSW 1 46,572,398 (GRCm39) missense probably damaging 1.00
R8485:Dnah7c UTSW 1 46,719,952 (GRCm39) missense probably benign 0.05
R8559:Dnah7c UTSW 1 46,764,299 (GRCm39) missense probably damaging 1.00
R8752:Dnah7c UTSW 1 46,711,701 (GRCm39) missense probably benign 0.00
R8869:Dnah7c UTSW 1 46,671,504 (GRCm39) missense probably damaging 0.97
R9058:Dnah7c UTSW 1 46,805,816 (GRCm39) missense probably damaging 0.97
R9121:Dnah7c UTSW 1 46,816,896 (GRCm39) missense probably benign 0.00
R9121:Dnah7c UTSW 1 46,704,650 (GRCm39) missense probably damaging 0.97
R9246:Dnah7c UTSW 1 46,571,934 (GRCm39) missense possibly damaging 0.51
R9319:Dnah7c UTSW 1 46,521,168 (GRCm39) missense possibly damaging 0.94
R9388:Dnah7c UTSW 1 46,779,886 (GRCm39) missense probably damaging 1.00
Z1176:Dnah7c UTSW 1 46,654,441 (GRCm39) missense probably damaging 1.00
Z1176:Dnah7c UTSW 1 46,506,462 (GRCm39) missense probably benign 0.00
Z1176:Dnah7c UTSW 1 46,799,476 (GRCm39) missense possibly damaging 0.95
Z1176:Dnah7c UTSW 1 46,686,152 (GRCm39) critical splice acceptor site probably null
Z1176:Dnah7c UTSW 1 46,678,825 (GRCm39) missense probably benign
Z1177:Dnah7c UTSW 1 46,693,263 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GTAAGATTGACACTTTCCGGGAG -3'
(R):5'- AGACAGACCATTCTCTTCCATCAAG -3'

Sequencing Primer
(F):5'- CACTTTCCGGGAGATAATATAGTAGG -3'
(R):5'- CTTCCATCAAGAGTCATAGAGAAAGG -3'
Posted On 2017-02-28