Mutagenetix > Incidental Mutation

Incidental Mutation 'R6615:Dnah7c'

523909

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

044738-MU

Accession Numbers

Essential gene?

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

Stock #

R6615 (G1)

Quality Score

225.009

Status

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: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Avl9	T	C	6: 56,730,870 (GRCm39)	V598A	probably benign	Het
Bcar3	T	A	3: 122,220,282 (GRCm39)	S60T	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Homo
Calm3	A	G	7: 16,651,508 (GRCm39)		probably null	Het
Ccdc113	A	C	8: 96,272,620 (GRCm39)	E242D	probably benign	Het
Celsr1	C	T	15: 85,786,315 (GRCm39)		probably null	Het
Clhc1	T	A	11: 29,528,149 (GRCm39)	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,396,338 (GRCm39)	I440L	probably benign	Het
Dsc2	T	A	18: 20,165,576 (GRCm39)	H843L	possibly damaging	Het
F11	T	C	8: 45,701,811 (GRCm39)	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,455,505 (GRCm39)	T560A	possibly damaging	Het
Fbxo7	A	T	10: 85,880,398 (GRCm39)	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,779,278 (GRCm39)	D243A	probably benign	Het
Hdac5	C	A	11: 102,087,882 (GRCm39)		probably null	Het
Krt87	A	G	15: 101,334,443 (GRCm39)	V188A	probably benign	Het
Lpxn	G	A	19: 12,802,163 (GRCm39)	V163M	probably benign	Het
Lrrk1	A	T	7: 65,931,396 (GRCm39)	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,860,091 (GRCm39)	C621Y	probably damaging	Het
Marchf8	A	G	6: 116,382,624 (GRCm39)	E147G	probably damaging	Het
Muc16	T	G	9: 18,558,484 (GRCm39)	H2603P	unknown	Het
Nipa1	T	A	7: 55,629,571 (GRCm39)	N181Y	probably damaging	Het
Nt5el	T	A	13: 105,248,993 (GRCm39)	N402K	probably damaging	Het
Or14c45	A	G	7: 86,176,120 (GRCm39)	T52A	probably benign	Het
Or2h2c	G	A	17: 37,422,494 (GRCm39)	P127S	probably damaging	Het
Or4k37	A	G	2: 111,159,457 (GRCm39)	D231G	probably benign	Het
Or51f23c-ps1	T	C	7: 102,430,994 (GRCm39)	F104L	probably damaging	Het
Or7g35	A	G	9: 19,496,285 (GRCm39)	I151V	probably benign	Het
Pcf11	T	A	7: 92,307,090 (GRCm39)	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,687,644 (GRCm39)	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,660,951 (GRCm39)		probably null	Het
Pxmp2	C	A	5: 110,425,573 (GRCm39)	W154L	possibly damaging	Het
Rdh7	T	G	10: 127,720,491 (GRCm39)	S294R	probably damaging	Het
Rexo1	C	T	10: 80,379,848 (GRCm39)	R994Q	possibly damaging	Het
Sacs	A	G	14: 61,446,383 (GRCm39)	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,117,980 (GRCm39)	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 58,031,200 (GRCm39)	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454 (GRCm39)	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,194,174 (GRCm39)	V628I	probably benign	Het
Srsf2	T	C	11: 116,743,905 (GRCm39)		probably null	Het
Sugp2	A	G	8: 70,695,420 (GRCm39)	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,251,340 (GRCm39)	R2525G	probably damaging	Het
Tars3	T	C	7: 65,327,890 (GRCm39)	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249 (GRCm39)	G82W	probably damaging	Het
Unc13c	A	G	9: 73,837,890 (GRCm39)	I987T	possibly damaging	Het
Usp44	T	C	10: 93,682,351 (GRCm39)	V267A	possibly damaging	Het
Wac	C	A	18: 7,868,884 (GRCm39)		probably null	Het
Xkr5	T	C	8: 18,983,569 (GRCm39)	I658V	probably benign	Het
Zbtb38	A	T	9: 96,568,707 (GRCm39)	Y792*	probably null	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	46,688,500 (GRCm39)	missense	probably benign
R6615:Dnah7c	UTSW	1	46,554,599 (GRCm39)	missense	probably benign	0.01
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
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'- TCAGGAGAGACTGAAGCATCTG -3'
(R):5'- TAGTTCACACCATCTGCTCACG -3'

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

Posted On

2018-06-22