Incidental Mutation 'R7404:Dnah7c'
ID 574387
Institutional Source Beutler Lab
Gene Symbol Dnah7c
Ensembl Gene ENSMUSG00000101337
Gene Name dynein, axonemal, heavy chain 7C
Synonyms Dnahc7c
MMRRC Submission 045486-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R7404 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 46464752-46846636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46705223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2412 (V2412A)
Ref Sequence ENSEMBL: ENSMUSP00000140430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189749]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000189749
AA Change: V2412A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: V2412A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (92/93)
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,955,099 (GRCm39) A297T probably damaging Het
Adprhl1 T A 8: 13,275,118 (GRCm39) S547C probably damaging Het
Ankrd63 G C 2: 118,533,793 (GRCm39) R43G unknown Het
Asah2 T C 19: 32,035,254 (GRCm39) T24A probably benign Het
Asb17 G A 3: 153,550,447 (GRCm39) probably null Het
Atp8b5 C T 4: 43,342,640 (GRCm39) T437I probably benign Het
Bbs2 T C 8: 94,808,992 (GRCm39) D311G probably damaging Het
Birc6 C T 17: 74,946,789 (GRCm39) T2851I possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Cchcr1 T C 17: 35,835,693 (GRCm39) W266R probably benign Het
Col14a1 C A 15: 55,252,024 (GRCm39) S560* probably null Het
Crocc G A 4: 140,753,497 (GRCm39) T1317M possibly damaging Het
Cxxc1 T A 18: 74,352,278 (GRCm39) V334E possibly damaging Het
Cyp3a25 T A 5: 145,923,635 (GRCm39) D336V probably damaging Het
Dapk1 A G 13: 60,867,455 (GRCm39) T221A probably benign Het
Dnah11 G T 12: 118,068,543 (GRCm39) T1605K probably benign Het
Ect2l T A 10: 18,035,529 (GRCm39) D524V probably damaging Het
Ehbp1l1 T C 19: 5,770,872 (GRCm39) E223G possibly damaging Het
Ephb2 A T 4: 136,498,524 (GRCm39) M185K probably damaging Het
Fcer1a T C 1: 173,049,083 (GRCm39) K243E probably damaging Het
Fcgbp T A 7: 27,800,932 (GRCm39) I1326N probably damaging Het
Fgfr1 T C 8: 26,045,566 (GRCm39) V45A probably benign Het
Filip1 T A 9: 79,727,380 (GRCm39) E413V possibly damaging Het
Frs3 T C 17: 48,013,651 (GRCm39) probably null Het
Fstl4 A G 11: 53,024,898 (GRCm39) T257A probably benign Het
Golga5 A T 12: 102,450,778 (GRCm39) K477M probably damaging Het
Gpr171 A T 3: 59,005,622 (GRCm39) I51K probably damaging Het
H1f0 T A 15: 78,913,080 (GRCm39) Y53* probably null Het
Hephl1 A G 9: 14,981,047 (GRCm39) V795A possibly damaging Het
Hmcn1 A T 1: 150,596,510 (GRCm39) D1775E probably benign Het
Hs3st2 A G 7: 121,100,168 (GRCm39) D338G possibly damaging Het
Hsd3b6 T A 3: 98,713,534 (GRCm39) Y255F probably benign Het
Hspa9 T C 18: 35,076,329 (GRCm39) N328D possibly damaging Het
Hvcn1 T A 5: 122,375,748 (GRCm39) I100N probably damaging Het
Ifi207 C T 1: 173,556,494 (GRCm39) S748N possibly damaging Het
Katnip A T 7: 125,464,434 (GRCm39) N1267I probably damaging Het
Kcnma1 G T 14: 24,052,902 (GRCm39) T180K unknown Het
Kctd16 A G 18: 40,391,826 (GRCm39) D138G probably damaging Het
Kifc3 A G 8: 95,830,092 (GRCm39) Y605H probably benign Het
Kmt2d T A 15: 98,743,376 (GRCm39) Q3928L unknown Het
Lamb2 C T 9: 108,364,782 (GRCm39) R1179C probably damaging Het
Layn T A 9: 50,968,670 (GRCm39) I358F possibly damaging Het
Lrig1 G A 6: 94,603,452 (GRCm39) T232M probably damaging Het
Lrp1 T C 10: 127,418,577 (GRCm39) T38A Het
Map3k14 A G 11: 103,129,918 (GRCm39) V333A probably benign Het
Med13 T C 11: 86,177,272 (GRCm39) D1608G possibly damaging Het
Mrps31 T G 8: 22,911,429 (GRCm39) S224A probably benign Het
Msh6 G T 17: 88,282,548 (GRCm39) Het
Ncapd3 A G 9: 26,978,315 (GRCm39) D838G probably benign Het
Nlrp1a C A 11: 70,987,919 (GRCm39) E1184* probably null Het
Npat T A 9: 53,466,233 (GRCm39) probably null Het
Nup210 A T 6: 91,050,227 (GRCm39) I414N probably benign Het
Or1e19 A T 11: 73,316,419 (GRCm39) L130H probably damaging Het
Or52n2 A T 7: 104,542,181 (GRCm39) V218E possibly damaging Het
Or5b122 T A 19: 13,562,752 (GRCm39) I28N possibly damaging Het
Or5h19 T C 16: 58,856,603 (GRCm39) T166A possibly damaging Het
Or6z5 T C 7: 6,477,163 (GRCm39) L18P probably damaging Het
Or8b12c A T 9: 37,715,257 (GRCm39) T17S possibly damaging Het
Or8h7 A C 2: 86,721,217 (GRCm39) L101V probably benign Het
Otud7b G C 3: 96,043,936 (GRCm39) probably null Het
Phf11d A C 14: 59,596,942 (GRCm39) W86G probably benign Het
Pik3c2b T A 1: 133,018,444 (GRCm39) S964T probably damaging Het
Pira1 T C 7: 3,742,344 (GRCm39) Y61C probably damaging Het
Plod3 G A 5: 137,023,901 (GRCm39) V687I probably benign Het
Poglut1 T G 16: 38,358,284 (GRCm39) Y208S possibly damaging Het
Pou1f1 T A 16: 65,330,749 (GRCm39) L253H probably damaging Het
Pou2f1 C T 1: 165,738,955 (GRCm39) A166T unknown Het
Rhbdl3 C T 11: 80,237,659 (GRCm39) S297L probably damaging Het
Rxra A T 2: 27,631,866 (GRCm39) N179I probably damaging Het
Ryr2 C T 13: 11,750,506 (GRCm39) E1922K probably damaging Het
Scube1 T C 15: 83,499,211 (GRCm39) Y668C probably damaging Het
Sec16b A G 1: 157,358,927 (GRCm39) Y120C probably damaging Het
Sec61b G T 4: 47,483,047 (GRCm39) K92N probably damaging Het
Skic3 T A 13: 76,296,866 (GRCm39) Y1074* probably null Het
Slc13a3 T C 2: 165,275,984 (GRCm39) N254S possibly damaging Het
Slc17a7 T A 7: 44,822,354 (GRCm39) Y397N probably benign Het
Slc25a3 A G 10: 90,952,902 (GRCm39) V333A possibly damaging Het
Slc7a8 A T 14: 54,964,283 (GRCm39) V390E probably damaging Het
Sorbs2 G A 8: 46,212,233 (GRCm39) probably null Het
Srgap1 T C 10: 121,621,650 (GRCm39) N948D probably benign Het
Tacc2 A T 7: 130,225,066 (GRCm39) T584S probably benign Het
Tec A T 5: 72,920,961 (GRCm39) D471E probably damaging Het
Tecpr2 C T 12: 110,898,038 (GRCm39) A430V probably benign Het
Tmcc2 A T 1: 132,288,759 (GRCm39) D309E probably damaging Het
Tmem82 G A 4: 141,344,742 (GRCm39) A67V possibly damaging Het
Ttc23l T C 15: 10,551,663 (GRCm39) Q21R probably damaging Het
Ubl3 A G 5: 148,448,764 (GRCm39) F26L probably damaging Het
Upf2 A G 2: 6,045,014 (GRCm39) E1088G unknown Het
Usp9y T A Y: 1,341,780 (GRCm39) I1362F probably benign Het
Wnk4 T A 11: 101,159,318 (GRCm39) probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Zfc3h1 T A 10: 115,251,153 (GRCm39) V1248D probably damaging Het
Zfp12 T A 5: 143,226,099 (GRCm39) V56D probably damaging 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
R5933:Dnah7c UTSW 1 46,558,375 (GRCm39) missense probably damaging 1.00
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 46,688,500 (GRCm39) missense probably benign
R6760:Dnah7c UTSW 1 46,688,511 (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 46,823,608 (GRCm39) missense possibly damaging 0.95
R7319:Dnah7c UTSW 1 46,819,935 (GRCm39) missense probably benign 0.31
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'- CAGACTTGCTGCACACATGG -3'
(R):5'- AATCCGAAATGCGTCTCCAATGG -3'

Sequencing Primer
(F):5'- GCACACATGGCTGATTATTCAC -3'
(R):5'- GAAATGCGTCTCCAATGGGACTC -3'
Posted On 2019-09-13