Incidental Mutation 'R4571:Dnah7c'
ID 342115
Institutional Source Beutler Lab
Gene Symbol Dnah7c
Ensembl Gene ENSMUSG00000101337
Gene Name dynein, axonemal, heavy chain 7C
Synonyms Dnahc7c
MMRRC Submission 041795-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R4571 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 46464752-46846636 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46572376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 950 (M950L)
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: M950L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: M950L

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 0.2418 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,920,884 (GRCm39) C1497S probably damaging Het
Acoxl G T 2: 127,719,727 (GRCm39) G163W probably damaging Het
Apbb1 T A 7: 105,222,969 (GRCm39) N214I probably damaging Het
Apol7b T C 15: 77,307,734 (GRCm39) K254E probably benign Het
Arl4d T A 11: 101,557,969 (GRCm39) V165E possibly damaging Het
Brca1 C A 11: 101,408,192 (GRCm39) R1377L probably benign Het
Btf3 A G 13: 98,449,792 (GRCm39) F65L probably benign Het
C2 T C 17: 35,082,635 (GRCm39) N495D probably benign Het
Cacna1c T C 6: 118,607,341 (GRCm39) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm39) D796E probably benign Het
Clasp2 G T 9: 113,676,789 (GRCm39) L173F probably damaging Het
Clec4g A T 8: 3,768,766 (GRCm39) probably null Het
Col9a3 T C 2: 180,258,159 (GRCm39) probably benign Het
Csmd2 T A 4: 128,373,888 (GRCm39) probably null Het
Ddx11 T C 17: 66,437,768 (GRCm39) C165R probably benign Het
Dusp23 A C 1: 172,460,181 (GRCm39) probably null Het
Ebag9 A T 15: 44,500,158 (GRCm39) probably null Het
Edn3 G A 2: 174,623,697 (GRCm39) A211T probably benign Het
Eif3e G A 15: 43,129,558 (GRCm39) T190I possibly damaging Het
Fam76a T C 4: 132,648,208 (GRCm39) H3R possibly damaging Het
Gabbr1 G T 17: 37,365,128 (GRCm39) E138* probably null Het
Galc T C 12: 98,188,876 (GRCm39) T412A probably benign Het
Gimap3 T C 6: 48,742,654 (GRCm39) D92G possibly damaging Het
Gin1 T C 1: 97,712,801 (GRCm39) Y285H probably damaging Het
Gm4868 A G 5: 125,925,782 (GRCm39) noncoding transcript Het
Gm7052 T A 17: 22,259,405 (GRCm39) probably benign Het
Gpcpd1 T A 2: 132,392,270 (GRCm39) E226D probably benign Het
Hoxb4 T C 11: 96,209,992 (GRCm39) S133P possibly damaging Het
Hrg C T 16: 22,779,972 (GRCm39) probably benign Het
Insrr A G 3: 87,708,194 (GRCm39) K212R probably benign Het
Ipp A G 4: 116,387,655 (GRCm39) D411G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 A G 15: 65,902,461 (GRCm39) F172L probably damaging Het
Kdm5d T C Y: 927,110 (GRCm39) F616S probably damaging Het
Lars1 T C 18: 42,361,295 (GRCm39) probably null Het
Lmo7 G T 14: 102,125,030 (GRCm39) Q496H probably damaging Het
Map3k9 C A 12: 81,780,865 (GRCm39) A432S probably benign Het
Nop2 T G 6: 125,117,844 (GRCm39) probably null Het
Nup50l T A 6: 96,141,862 (GRCm39) N394I probably damaging Het
Or10ag53 C A 2: 87,082,802 (GRCm39) Q174K possibly damaging Het
Or2h2 T C 17: 37,396,471 (GRCm39) I195M probably damaging Het
Or5m11b A T 2: 85,806,175 (GRCm39) E196V probably damaging Het
Or6k2 A T 1: 173,986,494 (GRCm39) N52Y possibly damaging Het
Pan2 A G 10: 128,144,512 (GRCm39) T187A probably benign Het
Pcmtd2 A G 2: 181,484,217 (GRCm39) E9G possibly damaging Het
Pik3cb T A 9: 98,972,310 (GRCm39) I283F possibly damaging Het
Pkhd1 G A 1: 20,683,633 (GRCm39) T40I probably damaging Het
Plxna2 T C 1: 194,493,296 (GRCm39) V1857A possibly damaging Het
Polg T C 7: 79,110,127 (GRCm39) S334G probably damaging Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Slc6a18 A T 13: 73,814,489 (GRCm39) N468K possibly damaging Het
Slco4a1 A T 2: 180,106,171 (GRCm39) T118S probably benign Het
Smg1 A T 7: 117,738,688 (GRCm39) N3520K possibly damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Topaz1 A G 9: 122,576,501 (GRCm39) T31A probably benign Het
Trpv6 C T 6: 41,598,678 (GRCm39) R649H probably damaging Het
Vmn1r188 A G 13: 22,272,688 (GRCm39) Y214C probably benign Het
Vps8 T A 16: 21,254,525 (GRCm39) I59N probably damaging Het
Wnt9a T C 11: 59,222,163 (GRCm39) C354R probably damaging Het
Zcchc2 A G 1: 105,958,987 (GRCm39) T1153A possibly damaging Het
Zfp30 A G 7: 29,492,627 (GRCm39) R294G probably damaging Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp62 A C 11: 49,106,568 (GRCm39) S220R probably damaging Het
Zfp62 G T 11: 49,106,569 (GRCm39) S220I probably damaging Het
Zp3r A G 1: 130,505,757 (GRCm39) S423P 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
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 46,688,511 (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'- AGGCATTAGTGAAGCAGCTAGC -3'
(R):5'- TAAAGGCTACCCATTCCTCATAATG -3'

Sequencing Primer
(F):5'- GCAGCTAGCAAAGAATATTCTCTTG -3'
(R):5'- GTCTCTACAGGTACCTAGACATATGC -3'
Posted On 2015-09-24