Incidental Mutation 'R7310:Dnah7c'
ID 567469
Institutional Source Beutler Lab
Gene Symbol Dnah7c
Ensembl Gene ENSMUSG00000101337
Gene Name dynein, axonemal, heavy chain 7C
Synonyms Dnahc7c
MMRRC Submission 045409-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R7310 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 46464752-46846636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46636127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1117 (M1117V)
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: M1117V

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: M1117V

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: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,771,094 (GRCm39) Q192L possibly damaging Het
Abat G A 16: 8,423,457 (GRCm39) R250Q probably null Het
Abcg3 A C 5: 105,114,632 (GRCm39) F295C probably benign Het
Abl1 T C 2: 31,690,604 (GRCm39) S708P possibly damaging Het
Acap2 A T 16: 30,926,972 (GRCm39) Y489* probably null Het
Akr1c6 A T 13: 4,486,354 (GRCm39) M54L probably benign Het
Arhgap5 A T 12: 52,589,270 (GRCm39) probably null Het
Asap1 A G 15: 63,971,379 (GRCm39) probably null Het
Atrnl1 A T 19: 57,630,856 (GRCm39) N208Y possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GTTCTGTGGTCACTG GTTCTGTGGTCACTGATTCTGTGGTCACTG 3: 95,795,485 (GRCm39) probably benign Het
BC028528 G GGGGTCACTGGTTCTT 3: 95,795,460 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,451 (GRCm39) probably benign Het
Bmi1 T C 2: 18,689,230 (GRCm39) S305P probably benign Het
Bpifc T A 10: 85,798,891 (GRCm39) I431F probably damaging Het
C130050O18Rik A T 5: 139,400,993 (GRCm39) M349L probably benign Het
Cacna2d1 A T 5: 16,519,914 (GRCm39) D428V probably damaging Het
Card14 A C 11: 119,217,005 (GRCm39) Q363P probably null Het
Cdca2 A T 14: 67,950,673 (GRCm39) L86H probably damaging Het
Cdh22 G T 2: 164,954,214 (GRCm39) S769* probably null Het
Cdhr17 A G 5: 17,075,246 (GRCm39) Y872C possibly damaging Het
Cep164 T C 9: 45,686,664 (GRCm39) E690G probably damaging Het
Cluh A G 11: 74,560,285 (GRCm39) H1304R probably benign Het
Daxx C A 17: 34,129,435 (GRCm39) D5E possibly damaging Het
Entpd3 T A 9: 120,389,821 (GRCm39) probably null Het
Esr1 G A 10: 4,889,259 (GRCm39) A386T probably damaging Het
Etv5 G A 16: 22,220,487 (GRCm39) P300L probably benign Het
Exoc3l A T 8: 106,020,340 (GRCm39) L195Q probably damaging Het
Exog T C 9: 119,274,069 (GRCm39) L18P unknown Het
Fgfr1 T A 8: 26,052,331 (GRCm39) V219D probably benign Het
Gna14 A T 19: 16,511,113 (GRCm39) Q54L Het
Gnb5 T C 9: 75,221,570 (GRCm39) L48P probably benign Het
Gpbp1 A G 13: 111,589,924 (GRCm39) I57T probably benign Het
Hnrnpa1 T A 15: 103,149,884 (GRCm39) D48E probably damaging Het
Hrc T A 7: 44,985,227 (GRCm39) L126* probably null Het
Hspa8 T G 9: 40,714,704 (GRCm39) D333E probably benign Het
Igsf3 T A 3: 101,338,895 (GRCm39) V403D probably benign Het
Itga10 C A 3: 96,555,475 (GRCm39) A143D probably damaging Het
Kdr T A 5: 76,104,985 (GRCm39) I1082F probably damaging Het
Klk1b11 A T 7: 43,428,254 (GRCm39) I242F probably damaging Het
Kng2 G A 16: 22,806,522 (GRCm39) T559I probably benign Het
Map1b G A 13: 99,570,163 (GRCm39) P853S unknown Het
Mmp13 T C 9: 7,280,880 (GRCm39) I421T possibly damaging Het
Mpeg1 A T 19: 12,439,615 (GRCm39) T358S probably damaging Het
Msantd5l A C 11: 51,145,474 (GRCm39) W38G probably damaging Het
Mttp T C 3: 137,800,783 (GRCm39) D759G probably damaging Het
Mup17 T A 4: 61,511,929 (GRCm39) Y115F possibly damaging Het
Myo1a G T 10: 127,541,697 (GRCm39) A79S probably damaging Het
Myo9a T A 9: 59,778,436 (GRCm39) N1397K probably benign Het
Nadk2 T C 15: 9,103,469 (GRCm39) probably null Het
Ncf1 A T 5: 134,250,615 (GRCm39) S402T probably benign Het
Ndufb10 T C 17: 24,941,188 (GRCm39) D145G probably damaging Het
Nlgn2 G A 11: 69,721,409 (GRCm39) T163M possibly damaging Het
Nol4 A T 18: 22,903,801 (GRCm39) H172Q Het
Nup205 T A 6: 35,202,904 (GRCm39) D1370E possibly damaging Het
Or1e32 A C 11: 73,705,112 (GRCm39) N265K probably damaging Het
Or51ab3 T A 7: 103,201,892 (GRCm39) I300N probably damaging Het
Or5b97 A G 19: 12,878,637 (GRCm39) F169S probably damaging Het
Pkd1l2 A G 8: 117,750,773 (GRCm39) V1746A probably benign Het
Plin2 T A 4: 86,586,628 (GRCm39) I68F probably benign Het
Proc A T 18: 32,268,952 (GRCm39) M11K probably benign Het
Rif1 T C 2: 51,995,631 (GRCm39) V950A probably benign Het
Rmc1 A G 18: 12,317,972 (GRCm39) K362E probably benign Het
Rnf208 C A 2: 25,133,587 (GRCm39) P94T probably damaging Het
Rundc3b A T 5: 8,571,011 (GRCm39) Y269* probably null Het
Senp7 T C 16: 56,006,445 (GRCm39) V950A probably benign Het
Sipa1l1 T C 12: 82,419,269 (GRCm39) V649A probably damaging Het
Sipa1l3 G T 7: 29,099,121 (GRCm39) H383N probably benign Het
Slc12a5 G A 2: 164,834,360 (GRCm39) V794M probably damaging Het
Slc7a7 A G 14: 54,616,482 (GRCm39) I200T probably damaging Het
Spdye4b A C 5: 143,188,103 (GRCm39) I199L probably damaging Het
Styxl2 G A 1: 165,926,300 (GRCm39) T1104I possibly damaging Het
Tle4 A T 19: 14,495,155 (GRCm39) H191Q probably benign Het
Tnfsf13b C A 8: 10,081,651 (GRCm39) S271* probably null Het
Tnks2 G A 19: 36,856,839 (GRCm39) V855I probably benign Het
Trank1 T C 9: 111,196,194 (GRCm39) L1406S probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Trim25 A T 11: 88,906,608 (GRCm39) N448I probably benign Het
Trim31 T A 17: 37,218,194 (GRCm39) M308K probably benign Het
Ugt2b36 A T 5: 87,214,138 (GRCm39) V502E possibly damaging Het
Usp10 A C 8: 120,668,344 (GRCm39) D215A possibly damaging Het
Usp33 T G 3: 152,066,026 (GRCm39) L102* probably null Het
Wdr12 A T 1: 60,121,734 (GRCm39) C272* probably null Het
Xndc1 A C 7: 101,727,938 (GRCm39) probably null Het
Zkscan2 T C 7: 123,089,276 (GRCm39) I332V possibly damaging Het
Zswim5 A T 4: 116,841,885 (GRCm39) T822S probably benign 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
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'- GCTGCTTTGTACCCATTTAAATGT -3'
(R):5'- CCATTTCAGATTAAATCACTCATTTCC -3'

Sequencing Primer
(F):5'- CCTGACATGTGAGGAACT -3'
(R):5'- GGCTCCCATGTATTGACAGACTG -3'
Posted On 2019-06-26