Mutagenetix > Incidental Mutation

Incidental Mutation 'R7515:Dnah7c'

582367

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

045588-MU

Accession Numbers

Essential gene?

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

Stock #

R7515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46464752-46846636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46496450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 112 (S112P)

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: S112P

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

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: S112P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,578,905 (GRCm39)	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,805,514 (GRCm39)	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,986,179 (GRCm39)	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,730,015 (GRCm39)	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,993,882 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,279,240 (GRCm39)	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,273,108 (GRCm39)	D23G	probably damaging	Het
Ccr2	T	C	9: 123,906,197 (GRCm39)	V159A	probably damaging	Het
Cfap61	T	A	2: 145,884,645 (GRCm39)	D614E	unknown	Het
Crb2	G	A	2: 37,673,412 (GRCm39)	G103R	probably damaging	Het
Cyp2b9	A	G	7: 25,898,596 (GRCm39)	Y317C	probably damaging	Het
Dhx36	A	G	3: 62,379,508 (GRCm39)	V860A	probably benign	Het
Dnah3	T	C	7: 119,672,815 (GRCm39)	D553G	probably benign	Het
Dnah9	A	G	11: 65,732,240 (GRCm39)	F4222S	probably benign	Het
Ei24	T	C	9: 36,701,211 (GRCm39)	D36G	probably damaging	Het
Etv3	G	T	3: 87,435,363 (GRCm39)	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,767,798 (GRCm39)	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,045,660 (GRCm39)	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,373,092 (GRCm39)	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,677,435 (GRCm39)	T281I	probably damaging	Het
Il18r1	T	C	1: 40,537,830 (GRCm39)	S532P	not run	Het
Itpr2	T	C	6: 146,228,608 (GRCm39)	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,704,191 (GRCm39)	N384K	probably benign	Het
Kdsr	A	G	1: 106,662,290 (GRCm39)	V255A	possibly damaging	Het
Kifc1	A	G	17: 34,103,777 (GRCm39)	L182P	probably damaging	Het
Lgals8	G	A	13: 12,463,343 (GRCm39)	R198*	probably null	Het
Lrrk1	A	T	7: 65,912,310 (GRCm39)	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,830,251 (GRCm39)		probably null	Het
Lztr1	C	T	16: 17,327,525 (GRCm39)	A76V	possibly damaging	Het
Mcc	G	T	18: 44,626,499 (GRCm39)	H366N	probably benign	Het
Mif4gd	A	G	11: 115,499,222 (GRCm39)	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,270,037 (GRCm39)	F708L	probably damaging	Het
Muc16	A	T	9: 18,550,958 (GRCm39)	W5112R	probably benign	Het
Ndrg2	A	G	14: 52,146,380 (GRCm39)	I140T	probably benign	Het
Nid2	C	A	14: 19,841,635 (GRCm39)	Q887K	probably benign	Het
Nop16	A	T	13: 54,737,550 (GRCm39)	S48T	possibly damaging	Het
Nrap	G	A	19: 56,354,859 (GRCm39)	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,929,951 (GRCm39)	G189D	probably damaging	Het
Or4a39	A	G	2: 89,237,250 (GRCm39)	Y58H	possibly damaging	Het
Or7g34	A	T	9: 19,477,949 (GRCm39)	C244S	probably damaging	Het
Pcdha5	A	T	18: 37,095,171 (GRCm39)	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb2	C	T	16: 45,594,603 (GRCm39)	D901N	possibly damaging	Het
Piezo1	T	C	8: 123,212,035 (GRCm39)	H2058R		Het
Ptgis	T	A	2: 167,048,758 (GRCm39)	K419N	possibly damaging	Het
Ptprz1	T	C	6: 23,022,266 (GRCm39)	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,434,353 (GRCm39)		probably null	Het
Recql	C	T	6: 142,320,611 (GRCm39)	D146N	probably damaging	Het
Rnf6	T	G	5: 146,148,602 (GRCm39)	S139R	probably damaging	Het
Rock1	A	G	18: 10,067,631 (GRCm39)	S1301P	probably damaging	Het
Safb2	A	G	17: 56,889,982 (GRCm39)		probably null	Het
Setd5	T	A	6: 113,087,850 (GRCm39)	I137N	probably damaging	Het
Sf3b6	G	A	12: 4,870,619 (GRCm39)	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,020,496 (GRCm39)	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,681,711 (GRCm39)	T175A	probably damaging	Het
Sspo	A	T	6: 48,470,820 (GRCm39)	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,268,090 (GRCm39)	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,632,507 (GRCm39)	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,315,846 (GRCm39)	M658L	probably benign	Het
Zc3h13	A	G	14: 75,546,349 (GRCm39)	D150G	unknown	Het
Zfp607b	T	C	7: 27,402,921 (GRCm39)	V459A	probably benign	Het
Zfp653	T	C	9: 21,982,427 (GRCm39)	R71G	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	46,688,511 (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
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'- TTTCTAGATGGTGCGGCAGC -3'
(R):5'- ACATACTTAACCGGGGTAGACTC -3'

Sequencing Primer
(F):5'- AGCATCTTTCCTAAGGGCG -3'
(R):5'- CGGGGTAGACTCAAACTCTC -3'

Posted On

2019-10-17