Mutagenetix > Incidental Mutation

Incidental Mutation 'R7007:Dnah7c'

544746

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: 0.429) question?

Stock #

R7007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46532750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 794 (D794E)

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: D794E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: D794E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 36,095,164	T57I	probably benign	Het
Adcy8	T	C	15: 64,704,716	N999S	possibly damaging	Het
Adgrv1	T	A	13: 81,536,364	I1073F	possibly damaging	Het
Akap3	A	G	6: 126,866,476	D686G	probably damaging	Het
Alg2	A	T	4: 47,471,881	I309N	probably benign	Het
Ankrd36	A	G	11: 5,689,168	E1360G	probably benign	Het
Aox2	C	A	1: 58,330,892	Q788K	probably damaging	Het
Apoc2	A	T	7: 19,673,357	D26E	possibly damaging	Het
Bbx	G	A	16: 50,202,488	T703I	possibly damaging	Het
C2cd4d	T	C	3: 94,364,071	Y215H	probably benign	Het
C3	C	T	17: 57,218,809	E858K	probably benign	Het
Ciita	T	C	16: 10,511,307	L482P	probably damaging	Het
Cldn9	T	C	17: 23,683,078	E191G	probably benign	Het
Cnst	T	A	1: 179,610,568	S566T	probably damaging	Het
Col5a2	A	G	1: 45,378,449	I1322T	possibly damaging	Het
Cp	G	A	3: 19,969,973	V326M	probably damaging	Het
Cyp7b1	G	A	3: 18,097,618	Q144*	probably null	Het
Dnah10	T	C	5: 124,787,426	S2232P	probably damaging	Het
Dnah17	T	C	11: 118,118,871	E625G	possibly damaging	Het
Dusp10	G	A	1: 184,037,217	V127M	probably benign	Het
Dysf	G	C	6: 84,113,980	W1015C	probably damaging	Het
Fbxw17	T	C	13: 50,423,772	Y104H	probably damaging	Het
Gm6408	G	A	5: 146,483,837	E176K	probably damaging	Het
Gp1bb	T	A	16: 18,620,939	D135V	possibly damaging	Het
Gprin1	C	T	13: 54,738,256	C735Y	probably damaging	Het
Heatr9	T	A	11: 83,520,620	M30L	possibly damaging	Het
Hhat	G	A	1: 192,693,826	T333I	possibly damaging	Het
Htr5b	A	G	1: 121,510,494	F336S	probably damaging	Het
Ippk	T	G	13: 49,436,705		probably null	Het
Jph1	T	A	1: 17,004,186	H11L	possibly damaging	Het
Kif12	T	A	4: 63,166,480	I534L	probably benign	Het
Lemd3	A	T	10: 120,952,232	F523I	probably benign	Het
Lgsn	C	A	1: 31,190,427	H76Q	probably benign	Het
Lipm	T	A	19: 34,112,097	W152R	probably damaging	Het
Mei1	A	T	15: 82,093,999	R216W	probably damaging	Het
Mybpc1	C	T	10: 88,553,412	G379S	probably damaging	Het
Myh8	A	G	11: 67,288,316	T512A	probably benign	Het
Nf1	A	G	11: 79,447,023		probably null	Het
Npc1	T	C	18: 12,210,548	T463A	probably benign	Het
Olfr1145	A	G	2: 87,809,886	N22S	probably damaging	Het
Olfr1383	G	A	11: 49,524,184	V154M	probably benign	Het
Olfr789	A	T	10: 129,487,408	I133F	probably damaging	Het
Osbpl11	T	G	16: 33,226,939	I424R	possibly damaging	Het
Pnmal2	A	T	7: 16,946,256	K388N	possibly damaging	Het
Ppp1r26	A	T	2: 28,451,159	K267I	probably damaging	Het
Psmb5	A	T	14: 54,616,709	M104K	probably damaging	Het
Ptges2	T	C	2: 32,402,306	V378A	probably benign	Het
Rcan2	C	T	17: 43,836,325	S18F	probably benign	Het
Sf3b2	C	T	19: 5,274,517	R859Q	probably benign	Het
Slc7a1	G	A	5: 148,352,446			Het
Spata31d1a	T	A	13: 59,703,634	T227S	probably benign	Het
Sptbn2	T	A	19: 4,744,145	V1459E	possibly damaging	Het
Srgap2	T	C	1: 131,319,537	I586V	probably benign	Het
St6galnac1	G	A	11: 116,767,007	R356*	probably null	Het
Taf5	T	A	19: 47,071,211	F265I	probably damaging	Het
Tex45	A	T	8: 3,476,309	D154V	probably damaging	Het
Tkfc	T	A	19: 10,596,363	I229L	probably benign	Het
Tmem132c	T	A	5: 127,359,615	L56Q	probably damaging	Het
Togaram2	C	T	17: 71,709,643	A665V	probably damaging	Het
Ttn	G	A	2: 76,707,046	T34846I	probably benign	Het
Tyr	G	A	7: 87,493,340	A4V	probably benign	Het
Ubap2	A	C	4: 41,206,221	F549L	probably damaging	Het
Usp2	T	C	9: 44,090,042	S294P	probably damaging	Het
Vrk3	A	G	7: 44,757,763	N53D	probably damaging	Het
Zfp324	T	C	7: 12,971,215	S444P	probably damaging	Het
Zfp597	T	C	16: 3,865,927	I322V	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
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
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'- CAACACCCATCTTTTCAGATTGATC -3'
(R):5'- CTTCAGAGGGTAGCCAACGATG -3'

Sequencing Primer
(F):5'- TTGATCAGTTCAATGCAGAAGAG -3'
(R):5'- AACGATGGTGGACATGGCCTC -3'

Posted On

2019-05-13