Mutagenetix > Incidental Mutation

Incidental Mutation 'R6649:Dnah7c'

527663

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

044770-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R6649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46464752-46846636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46688511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1894 (S1894G)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000189749]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189339

Predicted Effect

probably benign
Transcript: ENSMUST00000189749
AA Change: S1894G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: S1894G

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191499

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Abra	G	A	15: 41,732,629 (GRCm39)	L146F	probably benign	Het
Adamts7	T	C	9: 90,073,990 (GRCm39)	C857R	probably damaging	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
Asb16	A	T	11: 102,159,863 (GRCm39)	Q72L	possibly damaging	Het
Atosa	T	G	9: 74,917,432 (GRCm39)	L677R	probably damaging	Het
Bbox1	G	T	2: 110,135,914 (GRCm39)	H22N	probably benign	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh18	A	T	15: 23,436,620 (GRCm39)	Y492F	possibly damaging	Het
Cep290	A	C	10: 100,354,393 (GRCm39)	D848A	probably benign	Het
Cip2a	A	T	16: 48,837,829 (GRCm39)	Q843L	probably damaging	Het
Cmya5	G	C	13: 93,234,533 (GRCm39)	S185C	possibly damaging	Het
Cops9	C	T	1: 92,568,136 (GRCm39)		probably benign	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fat3	T	C	9: 16,288,038 (GRCm39)	D495G	probably damaging	Het
Fsip2	T	C	2: 82,798,161 (GRCm39)	V485A	possibly damaging	Het
Gm14496	A	T	2: 181,639,269 (GRCm39)	H453L	possibly damaging	Het
Gm17027	T	C	14: 41,981,236 (GRCm39)	T207A	unknown	Het
Gm6902	T	G	7: 22,973,159 (GRCm39)	T123P	possibly damaging	Het
Gpat2	T	G	2: 127,274,355 (GRCm39)	W366G	possibly damaging	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hsd17b14	T	C	7: 45,205,500 (GRCm39)	V11A	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kmt5b	G	A	19: 3,857,295 (GRCm39)	G351R	probably damaging	Het
Mau2	G	T	8: 70,484,166 (GRCm39)	Q141K	possibly damaging	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Mfsd13a	A	G	19: 46,360,704 (GRCm39)	H394R	probably benign	Het
Mfsd14b	A	T	13: 65,214,599 (GRCm39)	I451N	probably damaging	Het
Milr1	C	T	11: 106,648,537 (GRCm39)	H143Y	probably benign	Het
Mon2	T	G	10: 122,874,385 (GRCm39)	K321T	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Nwd2	A	G	5: 63,882,527 (GRCm39)	R60G	possibly damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or52b2	T	C	7: 104,986,914 (GRCm39)	H3R	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Papola	A	T	12: 105,778,566 (GRCm39)	I315L	possibly damaging	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phyhipl	A	G	10: 70,404,843 (GRCm39)	F77L	probably damaging	Het
Ppp3cb	A	G	14: 20,581,094 (GRCm39)	L110P	probably damaging	Het
Prss53	T	G	7: 127,485,747 (GRCm39)	E531A	probably benign	Het
Raf1	A	T	6: 115,608,302 (GRCm39)	H236Q	probably benign	Het
Ryr2	A	G	13: 11,610,529 (GRCm39)	V4099A	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,365,978 (GRCm39)		probably null	Het
Slco6c1	C	T	1: 97,053,436 (GRCm39)	S155N	probably benign	Het
Speer4f2	A	G	5: 17,580,767 (GRCm39)	T115A	probably benign	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	Het
Zfp938	A	T	10: 82,061,232 (GRCm39)	Y463N	probably damaging	Het

Other mutations in Dnah7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	46,688,500 (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
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'- ATCTGGCTGGTGACTTAAGTC -3'
(R):5'- TCACACCATCTGCTCACGTG -3'

Sequencing Primer
(F):5'- GAAGCATCTGTTTTAATTGCACCC -3'
(R):5'- CTCACGTGAGCCCGGAG -3'

Posted On

2018-07-23