Mutagenetix > Incidental Mutations

Incidental Mutation 'R7086:Dnah7c'

549874

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R7086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46750125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 3303 (R3303G)

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: R3303G

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

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: R3303G

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: 99.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,161,319	H28R	probably damaging	Het
Adgre4	T	C	17: 55,820,649	I563T	probably benign	Het
Ankub1	A	T	3: 57,690,325	C75S	probably damaging	Het
Antxrl	G	A	14: 34,065,916	V299I	probably benign	Het
Arfgef2	T	A	2: 166,876,616	C1442S	probably damaging	Het
Atp13a3	T	C	16: 30,351,063	D399G	possibly damaging	Het
Cacna2d1	T	A	5: 16,349,416	Y666N	probably damaging	Het
Cenpo	C	T	12: 4,215,307	E238K	probably benign	Het
Chrng	C	A	1: 87,211,013	R455S	probably benign	Het
Cluh	T	A	11: 74,667,340	H1155Q	possibly damaging	Het
Col16a1	G	A	4: 130,052,980		probably null	Het
Cpne5	G	A	17: 29,159,077	P576L	unknown	Het
Crocc	C	A	4: 141,047,057	V144L	possibly damaging	Het
Cubn	A	G	2: 13,319,858	V2781A	probably damaging	Het
Cyp8b1	A	G	9: 121,915,289	F326L	probably benign	Het
Dclk1	G	A	3: 55,487,912		probably null	Het
Dnhd1	G	T	7: 105,708,532	R3191S	probably benign	Het
Fgfbp3	T	G	19: 36,918,703	S172R	possibly damaging	Het
Gpr158	G	A	2: 21,826,575	V829I	probably benign	Het
Gtse1	A	G	15: 85,875,549	D647G	probably damaging	Het
H2-Q7	T	A	17: 35,439,485	V33E	probably damaging	Het
Hydin	A	G	8: 110,600,245	T4739A	possibly damaging	Het
Kcnip1	G	T	11: 33,634,629	P175T	probably damaging	Het
Klhl10	T	C	11: 100,456,942	V608A	probably benign	Het
Klhl2	A	G	8: 64,823,012	Y80H	probably damaging	Het
Lnx2	A	T	5: 147,020,178		probably null	Het
Lst1	G	A	17: 35,185,286	H59Y	probably damaging	Het
Maats1	A	T	16: 38,306,857	F512L	possibly damaging	Het
Mphosph8	G	C	14: 56,668,523	V58L	possibly damaging	Het
Mpnd	C	A	17: 56,009,457	S45R	possibly damaging	Het
Myh8	A	G	11: 67,292,627		probably null	Het
Odf3	A	G	7: 140,849,489	H151R	probably benign	Het
Olfr1263	A	G	2: 90,015,250	I107V	probably benign	Het
Olfr533	A	G	7: 140,466,428	T76A	possibly damaging	Het
Phox2a	A	G	7: 101,818,511	Y5C	probably damaging	Het
Pkdrej	A	G	15: 85,820,116	S540P	probably damaging	Het
Plcb4	A	G	2: 136,007,847	M1133V	probably benign	Het
Plxnc1	T	C	10: 94,831,435	M1126V	probably benign	Het
Ppm1l	A	G	3: 69,317,853	Y96C	probably damaging	Het
Prpsap1	T	C	11: 116,477,283	T234A	probably benign	Het
R3hcc1l	T	C	19: 42,581,970	V668A	probably damaging	Het
Rapgef2	A	G	3: 79,086,046	S712P	probably benign	Het
Rcc2	T	C	4: 140,707,969	C100R	probably benign	Het
Recql4	C	A	15: 76,705,553	G764V	unknown	Het
Rlbp1	A	G	7: 79,380,065	I140T	possibly damaging	Het
Samsn1	T	C	16: 75,870,906	T261A	probably benign	Het
Sgtb	T	C	13: 104,118,416	S65P	possibly damaging	Het
Spag9	T	C	11: 94,097,864	V920A	probably benign	Het
Spata31	T	A	13: 64,922,229	S730R	probably benign	Het
Spta1	C	T	1: 174,199,484	A841V	probably damaging	Het
St5	A	G	7: 109,525,574	I1083T	probably damaging	Het
Tnfaip1	T	C	11: 78,525,439	S273G	probably benign	Het
Vezf1	T	C	11: 88,078,538	V371A	probably benign	Het
Vmn1r67	G	A	7: 10,447,117	V103I	possibly damaging	Het
Vmn2r87	G	T	10: 130,497,309	T24K	probably benign	Het
Wdr43	G	A	17: 71,616,439	G60D	probably benign	Het
Xkr4	G	A	1: 3,216,962	T335I	probably damaging	Het
Zdhhc23	A	T	16: 43,971,510	I300N	probably damaging	Het
Zfp729b	T	C	13: 67,592,937	K403R	probably damaging	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
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'- GGCCTCATGTTTAAGCTAGTAATTC -3'
(R):5'- AAGGGTGAAGACATACCATACTATC -3'

Sequencing Primer
(F):5'- CAAAAGTAGCTATTCATGGACCTC -3'
(R):5'- TTCCCTGCGAATGGTCTT -3'

Posted On

2019-05-15