Incidental Mutation 'R7128:Dnah7c'
ID 552427
Institutional Source Beutler Lab
Gene Symbol Dnah7c
Ensembl Gene ENSMUSG00000101337
Gene Name dynein, axonemal, heavy chain 7C
Synonyms Dnahc7c
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R7128 (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 46566645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 619 (T619A)
Ref Sequence ENSEMBL: ENSMUSP00000140430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189749]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000189749
AA Change: T619A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: T619A

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,347,985 (GRCm39) D25G probably benign Het
Ak9 T C 10: 41,300,713 (GRCm39) V1641A unknown Het
Akirin2 T C 4: 34,562,435 (GRCm39) I118T probably benign Het
Aldh1l1 G T 6: 90,540,361 (GRCm39) Q215H probably benign Het
Arhgef26 T C 3: 62,326,971 (GRCm39) F495L possibly damaging Het
Atg4a-ps T A 3: 103,553,063 (GRCm39) R93* probably null Het
Brd10 T C 19: 29,693,881 (GRCm39) T1871A possibly damaging Het
Catsper3 A G 13: 55,946,662 (GRCm39) I120V probably benign Het
Cavin2 A G 1: 51,328,579 (GRCm39) Q12R possibly damaging Het
Cenpf A T 1: 189,417,188 (GRCm39) F39Y probably damaging Het
Chfr T C 5: 110,291,502 (GRCm39) Y107H probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Defb4 T A 8: 19,251,220 (GRCm39) I29K possibly damaging Het
Duxf1 T C 10: 58,059,479 (GRCm39) Q425R unknown Het
Emc3 A G 6: 113,494,881 (GRCm39) L179P probably damaging Het
Eno3 G C 11: 70,549,430 (GRCm39) V84L possibly damaging Het
Fam110a C T 2: 151,812,642 (GRCm39) V43M probably damaging Het
Fbxo30 T A 10: 11,165,860 (GRCm39) L194* probably null Het
Galnt14 T C 17: 73,852,096 (GRCm39) T108A probably benign Het
Glipr2 T C 4: 43,968,601 (GRCm39) I51T probably benign Het
Gm1527 C T 3: 28,969,460 (GRCm39) S270F possibly damaging Het
Gm3336 A G 8: 71,171,203 (GRCm39) M1V probably null Het
Gm4744 T C 6: 40,927,310 (GRCm39) D15G Het
Gm4924 G A 10: 82,214,533 (GRCm39) C777Y unknown Het
Gm5901 G A 7: 105,027,408 (GRCm39) G306S probably damaging Het
Gon4l T A 3: 88,802,999 (GRCm39) N1203K possibly damaging Het
Gpr161 A T 1: 165,138,026 (GRCm39) Y204F possibly damaging Het
Igsf10 T C 3: 59,236,326 (GRCm39) E1285G probably benign Het
Irx6 T C 8: 93,403,994 (GRCm39) L187P probably damaging Het
Itgb1bp1 A G 12: 21,322,089 (GRCm39) Y117H probably benign Het
Itln1 C A 1: 171,358,143 (GRCm39) D202Y possibly damaging Het
Kctd9 T C 14: 67,975,972 (GRCm39) S242P probably benign Het
Lrrk2 A G 15: 91,686,088 (GRCm39) H2143R probably benign Het
Lynx1 G A 15: 74,623,398 (GRCm39) R50* probably null Het
Lypd11 C T 7: 24,425,424 (GRCm39) probably null Het
Map10 A G 8: 126,398,592 (GRCm39) I662V probably benign Het
Mlxipl T C 5: 135,162,705 (GRCm39) L691P probably damaging Het
Muc16 A G 9: 18,554,300 (GRCm39) S3998P unknown Het
Nalcn A T 14: 123,831,914 (GRCm39) V120E probably damaging Het
Nfat5 T C 8: 108,085,323 (GRCm39) S539P probably benign Het
Olfml3 T C 3: 103,644,484 (GRCm39) M62V probably benign Het
Orm3 T C 4: 63,276,062 (GRCm39) V158A probably benign Het
Pakap T C 4: 57,855,816 (GRCm39) S382P probably benign Het
Pced1b A T 15: 97,282,479 (GRCm39) K173* probably null Het
Pdzd7 T C 19: 45,016,388 (GRCm39) D911G probably damaging Het
Pkn3 A G 2: 29,973,327 (GRCm39) D383G probably damaging Het
Pm20d1 A G 1: 131,725,292 (GRCm39) E46G probably benign Het
Pyroxd2 A T 19: 42,719,842 (GRCm39) S455T probably benign Het
Rmnd5b T A 11: 51,515,364 (GRCm39) I301F possibly damaging Het
Rnf225 A G 7: 12,661,911 (GRCm39) N30S probably benign Het
Shisal2a G T 4: 108,225,100 (GRCm39) T154K probably benign Het
Slfn3 T A 11: 83,105,721 (GRCm39) C573S probably benign Het
Smc6 A G 12: 11,351,632 (GRCm39) E887G probably damaging Het
Sp140 A T 1: 85,547,846 (GRCm39) D191V possibly damaging Het
Srf C T 17: 46,866,372 (GRCm39) S128N possibly damaging Het
Sult6b1 T C 17: 79,202,070 (GRCm39) D144G probably damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Syt10 A T 15: 89,698,314 (GRCm39) D343E probably damaging Het
Tgtp2 G A 11: 48,950,135 (GRCm39) R146C possibly damaging Het
Tmcc3 A T 10: 94,266,496 (GRCm39) probably benign Het
Tnfrsf1a A T 6: 125,338,499 (GRCm39) T337S probably benign Het
Tns1 A T 1: 74,034,463 (GRCm39) I144N Het
Trim11 A G 11: 58,869,103 (GRCm39) E13G probably damaging Het
Trpm6 A T 19: 18,789,137 (GRCm39) H569L possibly damaging Het
Ttbk2 T A 2: 120,576,569 (GRCm39) I803L probably benign Het
Vmn1r21 G T 6: 57,820,936 (GRCm39) N169K probably damaging Het
Vmn2r60 C T 7: 41,844,536 (GRCm39) T633I probably damaging Het
Wt1 T C 2: 104,957,670 (GRCm39) Y177H 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
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'- CTTCCTCTTATTTTAGTGAAGTGGG -3'
(R):5'- GCCAACCTTAAGGGCTTCTTG -3'

Sequencing Primer
(F):5'- GTGGGGTAATTGAGAAGTAAATTGTG -3'
(R):5'- CCAACCTTAAGGGCTTCTTGATATTG -3'
Posted On 2019-05-15