Mutagenetix > Incidental Mutation

Incidental Mutation 'R7176:Dnah7c'

558588

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R7176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46430809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 18 (A18E)

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: A18E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: A18E

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,324,277	H267N	probably benign	Het
Abtb2	A	G	2: 103,709,375	D695G	probably benign	Het
Adam21	C	T	12: 81,560,248	D247N	possibly damaging	Het
Adnp	T	C	2: 168,182,658	N906D	probably benign	Het
Ankrd17	A	T	5: 90,268,735	H1079Q	probably damaging	Het
Aqp3	T	A	4: 41,095,202	N60Y	probably damaging	Het
Art4	T	G	6: 136,857,168	T26P	probably benign	Het
Arvcf	T	C	16: 18,399,727	L553P	probably damaging	Het
Asxl1	T	A	2: 153,401,988	I1487N	probably damaging	Het
Capn3	A	T	2: 120,504,492	Y820F	possibly damaging	Het
Catip	A	G	1: 74,362,782	T39A	probably damaging	Het
Ccdc18	T	A	5: 108,168,106	C481S	probably benign	Het
Ccnf	A	G	17: 24,249,402	I7T	possibly damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cdkl4	A	T	17: 80,543,792	Y160*	probably null	Het
Celsr3	C	T	9: 108,845,762	P2783S	probably benign	Het
Cisd3	A	T	11: 97,686,133	D11V	probably benign	Het
Daxx	A	T	17: 33,913,318	H512L	unknown	Het
Dip2b	A	G	15: 100,169,318	H567R	probably damaging	Het
Eif3d	A	T	15: 77,963,234	V268D	probably damaging	Het
Eif4g3	T	A	4: 138,171,186	H1089Q	probably damaging	Het
Fmnl2	A	G	2: 53,114,150	M625V	unknown	Het
Foxn1	T	C	11: 78,360,867	R513G	possibly damaging	Het
Gemin5	C	T	11: 58,166,002	V134I	probably benign	Het
Gm8251	A	T	1: 44,060,346	S531T	probably benign	Het
Gtf2h3	A	G	5: 124,590,370	R161G	probably damaging	Het
Ice1	A	G	13: 70,624,406		probably null	Het
Il1rl1	T	C	1: 40,446,606	Y306H	probably damaging	Het
Kbtbd7	A	T	14: 79,427,754	E342V	possibly damaging	Het
Kyat3	A	T	3: 142,737,839	K404N	possibly damaging	Het
Lins1	T	C	7: 66,713,805	W483R	probably benign	Het
Lipo2	A	G	19: 33,745,807	I194T	possibly damaging	Het
Mcm8	G	T	2: 132,820,072	A137S	probably benign	Het
Mdm1	C	A	10: 118,142,865	Q12K	probably damaging	Het
Mrgprb5	C	A	7: 48,168,311	L225F	possibly damaging	Het
Myh11	T	A	16: 14,215,826	H1068L		Het
Ngef	A	T	1: 87,480,695	V550E	possibly damaging	Het
Nrg1	G	A	8: 31,968,036	Q84*	probably null	Het
Obp2b	G	T	2: 25,737,748	V59L	possibly damaging	Het
Ocln	C	A	13: 100,515,082	G327C	probably damaging	Het
Ocln	A	C	13: 100,515,083	N326K	probably benign	Het
Olfr1117-ps1	C	T	2: 87,285,034	A248V	probably damaging	Het
Otogl	T	C	10: 107,778,911	D1960G	probably damaging	Het
Pik3c2a	T	C	7: 116,388,096	D530G	possibly damaging	Het
Plod1	A	T	4: 147,913,287	M655K	probably benign	Het
Ppp4r3b	A	G	11: 29,198,904	N449D	probably damaging	Het
Ppp6r3	G	T	19: 3,471,989	T563K	probably damaging	Het
Prepl	T	A	17: 85,069,026	L533F	probably benign	Het
Rbl1	G	A	2: 157,188,325	R421W	probably damaging	Het
Rrp15	G	A	1: 186,721,533	S239L	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sbno1	A	G	5: 124,392,881	S815P	probably benign	Het
Scn7a	G	A	2: 66,676,288	T1419I	probably damaging	Het
Setdb1	A	G	3: 95,337,147		probably null	Het
Shpk	A	G	11: 73,222,988	H409R	probably benign	Het
Slamf6	A	C	1: 171,934,291	N93T	probably benign	Het
Slc27a4	A	G	2: 29,811,226	N343S	probably benign	Het
Slc35g1	T	A	19: 38,403,323	V351E	probably damaging	Het
Smcr8	A	T	11: 60,778,946	I307F	probably damaging	Het
Spats2l	T	C	1: 57,937,918	I305T	possibly damaging	Het
Speer4c	T	C	5: 15,711,538	T144A	probably benign	Het
Tbl3	G	A	17: 24,700,758	T774I	probably benign	Het
Ush2a	A	G	1: 188,537,728	H1724R	probably benign	Het
Vcan	A	G	13: 89,688,936	S2830P	probably benign	Het
Vmn2r27	T	A	6: 124,192,036	I712F	probably benign	Het
Wdr59	T	G	8: 111,492,756	Q223P		Het
Zfp28	T	A	7: 6,383,457	C22S	possibly damaging	Het
Zfp536	T	G	7: 37,480,851		probably null	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
R4589:Dnah7c	UTSW	1	46514583	nonsense	probably null
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
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'- AGTACTAGTCTCTTCCTGCAGC -3'
(R):5'- CCATCCATCCATGCTAGGAATTAC -3'

Sequencing Primer
(F):5'- ACCCCACTCTGTGTGTGTATATGTG -3'
(R):5'- CCATGCTAGGAATTACTAATGTGGTG -3'

Posted On

2019-06-26