Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Dnah7c'

342642

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: 0.304) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 46514583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 340 (Y340*)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000189749
AA Change: Y340*

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: Y340*

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,582	S223P	probably damaging	Het
Abcc1	G	T	16: 14,394,031	V157L	probably benign	Het
Actn1	G	A	12: 80,171,799	T737I	possibly damaging	Het
Ada	T	C	2: 163,732,948	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,333,011	L184*	probably null	Het
Arfgef3	T	C	10: 18,646,199	D693G	probably damaging	Het
Arid4a	A	T	12: 71,069,964	I277F	probably damaging	Het
BC003331	C	T	1: 150,384,487	V127I	probably benign	Het
Ccdc171	A	G	4: 83,549,618	S67G	probably benign	Het
Ccr5	T	A	9: 124,124,502	F47L	probably benign	Het
Clip4	T	A	17: 71,810,867	C302*	probably null	Het
Cyth1	C	T	11: 118,184,985	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,439,742		probably null	Het
Def6	G	T	17: 28,228,147	R584L	probably benign	Het
Eif2ak4	T	G	2: 118,417,338	C173W	probably damaging	Het
Gm14403	C	T	2: 177,508,635	H125Y	probably benign	Het
Grk3	T	C	5: 112,941,718	I323V	possibly damaging	Het
Homez	G	T	14: 54,857,030	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,130,628	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,306,484	W305R	unknown	Het
Il27ra	G	T	8: 84,036,409	N296K	probably damaging	Het
Lzic	G	T	4: 149,488,104	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,921,419	V183A	probably damaging	Het
Mme	T	A	3: 63,380,272	D731E	probably benign	Het
Mocos	T	C	18: 24,654,038	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,117,973		probably null	Het
Msh2	T	A	17: 87,680,032	V200D	possibly damaging	Het
Mug1	A	T	6: 121,857,351	I364F	probably benign	Het
Mycbp2	G	T	14: 103,177,313	S2554R	probably benign	Het
Nat10	A	G	2: 103,754,070	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,079,073	D183E	probably damaging	Het
Olfr1162	T	C	2: 88,050,479	I48M	probably benign	Het
Olfr1426	T	C	19: 12,087,941	I284V	possibly damaging	Het
Olfr616	A	T	7: 103,564,432	F282L	probably damaging	Het
Olfr648	C	A	7: 104,179,429		probably null	Het
Pak6	T	A	2: 118,696,540	I672K	probably damaging	Het
Pan3	A	T	5: 147,543,173	I830F	probably damaging	Het
Pcdh9	A	T	14: 93,888,192	L181I	probably damaging	Het
Pigg	G	A	5: 108,332,690	A447T	probably benign	Het
Pitpnb	T	A	5: 111,371,348	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,833,279	Y67C	probably damaging	Het
Plch1	A	G	3: 63,781,507	I80T	probably damaging	Het
Pnma1	A	G	12: 84,147,461	I156T	probably benign	Het
Prss21	G	T	17: 23,872,822	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,262,331	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,705,647	F78L	probably benign	Het
Riok3	T	A	18: 12,136,787	Y92N	probably benign	Het
Rpap2	T	C	5: 107,620,495	S400P	probably benign	Het
Ryr3	C	A	2: 112,875,133	G792V	probably damaging	Het
Sept3	A	G	15: 82,285,891	E206G	probably damaging	Het
Stkld1	T	C	2: 26,950,667	S454P	probably damaging	Het
Tdh	A	T	14: 63,495,877	L140Q	probably damaging	Het
Tex15	T	A	8: 33,557,373	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,064,161	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,754,779	L290*	probably null	Het
Vmn1r31	A	G	6: 58,472,611	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,670,895	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,356,714	I42F	probably damaging	Het
Vps35	G	A	8: 85,287,702	P106L	probably damaging	Het
Xrcc6	T	A	15: 82,022,460	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,388,470	P388S	probably damaging	Het
Zfp541	C	T	7: 16,083,336	A902V	probably benign	Het

Other mutations in Dnah7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Dnah7c	APN	1	46807289	missense	possibly damaging	0.72
IGL02958:Dnah7c	APN	1	46657111	missense	probably damaging	1.00
IGL03035:Dnah7c	APN	1	46524117	missense	probably benign	0.37
IGL03161:Dnah7c	APN	1	46467296	missense	probably benign	0.20
IGL03178:Dnah7c	APN	1	46467365	missense	probably benign
IGL03052:Dnah7c	UTSW	1	46632149	missense	probably damaging	1.00
R0751:Dnah7c	UTSW	1	46465905	missense	probably benign
R1029:Dnah7c	UTSW	1	46612721	missense	probably damaging	1.00
R3104:Dnah7c	UTSW	1	46798279	missense	probably damaging	0.97
R3977:Dnah7c	UTSW	1	46628911	missense	possibly damaging	0.75
R4003:Dnah7c	UTSW	1	46681817	missense	probably damaging	1.00
R4133:Dnah7c	UTSW	1	46665990	missense	probably benign	0.01
R4303:Dnah7c	UTSW	1	46748578	missense	probably damaging	1.00
R4329:Dnah7c	UTSW	1	46649281	missense	probably benign	0.33
R4434:Dnah7c	UTSW	1	46666282	missense	probably damaging	1.00
R4457:Dnah7c	UTSW	1	46740621	missense	probably damaging	1.00
R4470:Dnah7c	UTSW	1	46748635	missense	possibly damaging	0.56
R4507:Dnah7c	UTSW	1	46766611	missense	probably damaging	1.00
R4527:Dnah7c	UTSW	1	46532931	missense	probably benign	0.34
R4571:Dnah7c	UTSW	1	46533216	missense	probably damaging	0.99
R4731:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4732:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4733:Dnah7c	UTSW	1	46770173	missense	probably damaging	1.00
R4747:Dnah7c	UTSW	1	46533168	missense	probably damaging	1.00
R4845:Dnah7c	UTSW	1	46793532	missense	probably damaging	1.00
R4873:Dnah7c	UTSW	1	46688925	missense	probably benign
R4875:Dnah7c	UTSW	1	46688925	missense	probably benign
R4916:Dnah7c	UTSW	1	46595008	missense	probably damaging	1.00
R5241:Dnah7c	UTSW	1	46530500	missense	probably benign
R5279:Dnah7c	UTSW	1	46519269	missense	probably benign	0.14
R5327:Dnah7c	UTSW	1	46665568	missense	probably benign	0.05
R5546:Dnah7c	UTSW	1	46666317	missense	probably damaging	1.00
R5605:Dnah7c	UTSW	1	46798235	missense	possibly damaging	0.84
R5637:Dnah7c	UTSW	1	46760361	splice site	probably null
R5639:Dnah7c	UTSW	1	46739668	missense	probably benign
R5663:Dnah7c	UTSW	1	46535148	missense	probably damaging	1.00
R5718:Dnah7c	UTSW	1	46748666	missense	possibly damaging	0.47
R5759:Dnah7c	UTSW	1	46615367	missense	probably damaging	1.00
R5771:Dnah7c	UTSW	1	46639665	missense	probably benign	0.00
R5784:Dnah7c	UTSW	1	46524068	missense	possibly damaging	0.80
R5800:Dnah7c	UTSW	1	46647015	missense	probably benign	0.01
R5933:Dnah7c	UTSW	1	46519215	missense	probably damaging	1.00
R5948:Dnah7c	UTSW	1	46672497	missense	probably benign	0.21
R6034:Dnah7c	UTSW	1	46457258	missense	probably benign	0.00
R6034:Dnah7c	UTSW	1	46457258	missense	probably benign	0.00
R6487:Dnah7c	UTSW	1	46769124	missense	probably damaging	1.00
R6536:Dnah7c	UTSW	1	46658290	missense	probably benign	0.00
R6614:Dnah7c	UTSW	1	46649340	missense	probably benign
R6614:Dnah7c	UTSW	1	46649351	missense	probably benign
R6615:Dnah7c	UTSW	1	46515439	missense	probably benign	0.01
R6615:Dnah7c	UTSW	1	46649340	missense	probably benign
R6615:Dnah7c	UTSW	1	46649351	missense	probably benign
R6649:Dnah7c	UTSW	1	46649340	missense	probably benign
R6649:Dnah7c	UTSW	1	46649351	missense	probably benign
R6650:Dnah7c	UTSW	1	46649340	missense	probably benign
R6650:Dnah7c	UTSW	1	46649351	missense	probably benign
R6651:Dnah7c	UTSW	1	46649340	missense	probably benign
R6651:Dnah7c	UTSW	1	46649351	missense	probably benign
R6653:Dnah7c	UTSW	1	46649340	missense	probably benign
R6653:Dnah7c	UTSW	1	46649351	missense	probably benign
R6714:Dnah7c	UTSW	1	46740806	missense	probably damaging	0.99
R6729:Dnah7c	UTSW	1	46672521	missense	possibly damaging	0.46
R6760:Dnah7c	UTSW	1	46649340	missense	probably benign
R6760:Dnah7c	UTSW	1	46649351	missense	probably benign
R6763:Dnah7c	UTSW	1	46628890	missense	possibly damaging	0.60
R6866:Dnah7c	UTSW	1	46657243	missense	probably damaging	1.00
R6880:Dnah7c	UTSW	1	46527671	missense	probably damaging	0.97
R6988:Dnah7c	UTSW	1	46666213	missense	possibly damaging	0.68
R6995:Dnah7c	UTSW	1	46455813	missense	probably benign	0.07
R7007:Dnah7c	UTSW	1	46532750	missense	probably benign	0.04
R7086:Dnah7c	UTSW	1	46750125	missense	probably benign	0.00
R7128:Dnah7c	UTSW	1	46527485	missense	probably benign
R7131:Dnah7c	UTSW	1	46681772	missense	probably benign	0.00
R7135:Dnah7c	UTSW	1	46533208	missense	probably damaging	1.00
R7171:Dnah7c	UTSW	1	46680738	missense	probably damaging	0.99
R7176:Dnah7c	UTSW	1	46430809	missense	probably benign	0.00
R7221:Dnah7c	UTSW	1	46455777	missense	possibly damaging	0.87
R7310:Dnah7c	UTSW	1	46596967	missense	possibly damaging	0.94
R7319:Dnah7c	UTSW	1	46780775	missense	probably benign	0.31
R7319:Dnah7c	UTSW	1	46784448	missense	possibly damaging	0.95
R7404:Dnah7c	UTSW	1	46666063	missense	possibly damaging	0.52
R7452:Dnah7c	UTSW	1	46647036	missense	possibly damaging	0.91
R7515:Dnah7c	UTSW	1	46457290	missense	probably benign
R7534:Dnah7c	UTSW	1	46770067	missense	probably damaging	0.98
R7542:Dnah7c	UTSW	1	46784498	missense	probably benign	0.00
R7605:Dnah7c	UTSW	1	46632310	missense	probably damaging	1.00
R7643:Dnah7c	UTSW	1	46602813	missense	probably benign
R7770:Dnah7c	UTSW	1	46626300	splice site	probably null
R7884:Dnah7c	UTSW	1	46791769	missense	probably benign	0.23
R7899:Dnah7c	UTSW	1	46514701	missense	probably benign	0.00
R8025:Dnah7c	UTSW	1	46457296	missense	probably benign	0.01
R8057:Dnah7c	UTSW	1	46688952	missense	possibly damaging	0.52
R8191:Dnah7c	UTSW	1	46607458	missense	possibly damaging	0.56
R8255:Dnah7c	UTSW	1	46659429	missense	probably damaging	1.00
R8428:Dnah7c	UTSW	1	46672376	missense	probably damaging	1.00
R8441:Dnah7c	UTSW	1	46533238	missense	probably damaging	1.00
R8485:Dnah7c	UTSW	1	46680792	missense	probably benign	0.05
R8559:Dnah7c	UTSW	1	46725139	missense	probably damaging	1.00
R8752:Dnah7c	UTSW	1	46672541	missense	probably benign	0.00
R8869:Dnah7c	UTSW	1	46632344	missense	probably damaging	0.97
R9058:Dnah7c	UTSW	1	46766656	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46665490	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46777736	missense	probably benign	0.00
R9246:Dnah7c	UTSW	1	46532774	missense	possibly damaging	0.51
R9319:Dnah7c	UTSW	1	46482008	missense	possibly damaging	0.94
R9388:Dnah7c	UTSW	1	46740726	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46467302	missense	probably benign	0.00
Z1176:Dnah7c	UTSW	1	46615281	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46639665	missense	probably benign
Z1176:Dnah7c	UTSW	1	46646992	critical splice acceptor site	probably null
Z1176:Dnah7c	UTSW	1	46760316	missense	possibly damaging	0.95
Z1177:Dnah7c	UTSW	1	46654103	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCAGAGAGGGGATCATGTCAC -3'
(R):5'- CAGAAAAGCTACCATGCCAGTTTC -3'

Sequencing Primer
(F):5'- GAGGGGATCATGTCACTTAGC -3'
(R):5'- GCACACCTGCTAGCTGAG -3'

Posted On

2015-09-24