Mutagenetix > Incidental Mutations

Incidental Mutation 'R7542:Dnah7c'

583919

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 #

R7542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46425592-46807476 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46784498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 3766 (I3766V)

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: I3766V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: I3766V

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,458,227		probably benign	Het
Adam24	A	T	8: 40,680,809	T439S	possibly damaging	Het
AF529169	T	A	9: 89,601,911	T478S	probably damaging	Het
Akap11	A	T	14: 78,510,292	S1552T		Het
Akap6	A	G	12: 53,069,234	E1040G	probably damaging	Het
Alms1	A	T	6: 85,629,362	T2196S	possibly damaging	Het
Alox12e	T	C	11: 70,321,756	Q89R	possibly damaging	Het
AW551984	T	A	9: 39,594,631	E423D	possibly damaging	Het
Ccpg1	T	A	9: 73,012,459	V452D	probably damaging	Het
Cdk5r1	T	C	11: 80,478,364	F286L	probably damaging	Het
Cgref1	A	T	5: 30,933,593	N292K	probably damaging	Het
Clgn	A	T	8: 83,395,545	S32C	possibly damaging	Het
Csk	C	A	9: 57,629,000		probably null	Het
Dchs2	A	G	3: 83,269,284	T850A	probably benign	Het
Defb2	T	C	8: 21,843,344	V45A	probably benign	Het
Disp2	A	G	2: 118,791,118	Q777R	probably damaging	Het
Dll1	C	T	17: 15,370,347	C369Y	probably damaging	Het
Fam53a	A	G	5: 33,607,471	M297T	probably damaging	Het
Fat4	A	G	3: 38,981,355	D3052G	possibly damaging	Het
Fat4	A	T	3: 38,981,621	I3141F	possibly damaging	Het
Fbxw10	T	C	11: 62,850,596	V180A	probably benign	Het
Frem2	A	T	3: 53,652,579	D1502E	probably damaging	Het
Fsip2	A	T	2: 82,984,852	N3643I	possibly damaging	Het
Furin	A	G	7: 80,393,459	S335P	probably damaging	Het
Glb1l3	C	A	9: 26,818,195	A659S	possibly damaging	Het
Gm16486	A	G	8: 70,708,766	T203A	possibly damaging	Het
Gm8011	A	T	14: 42,466,784	R175*	probably null	Het
Gna15	A	G	10: 81,514,302	S89P	probably damaging	Het
Grm2	A	T	9: 106,651,169	L172Q	probably damaging	Het
Kcnc3	A	G	7: 44,595,714	D476G	possibly damaging	Het
Kcnh6	A	G	11: 106,014,561	T216A	possibly damaging	Het
Kdm2a	G	A	19: 4,333,830		probably benign	Het
Lrrc9	T	C	12: 72,506,320	I1332T	probably damaging	Het
Maea	T	C	5: 33,371,663	C317R	probably damaging	Het
Manba	T	C	3: 135,566,593	V707A	probably benign	Het
Mcph1	C	T	8: 18,631,689	R281C	probably benign	Het
Med25	A	T	7: 44,891,791	D99E	probably damaging	Het
Megf10	C	A	18: 57,189,570	D62E	probably benign	Het
Myod1	A	T	7: 46,376,673	M1L	probably benign	Het
Nav3	A	T	10: 109,823,533	M741K	possibly damaging	Het
Odf2l	A	C	3: 145,153,436	K618T	probably damaging	Het
Olfr1212	A	T	2: 88,958,775	E103V	probably benign	Het
Pcdha2	G	A	18: 36,940,089	G258R	probably damaging	Het
Pcdha3	G	A	18: 36,947,731	A509T	possibly damaging	Het
Pde4dip	A	G	3: 97,766,655	V315A	possibly damaging	Het
Prim1	T	C	10: 128,018,034	V107A	probably damaging	Het
Pxdc1	A	G	13: 34,638,163		probably null	Het
Rab7b	C	T	1: 131,711,641	H182Y	probably benign	Het
Reln	C	A	5: 21,955,181	G2130V	probably damaging	Het
Retreg1	T	A	15: 25,941,210	M1K	probably null	Het
Rras	G	A	7: 45,020,342	R94Q	probably damaging	Het
Rundc3a	T	A	11: 102,400,045	L318Q	probably benign	Het
Scgb2b18	A	T	7: 33,173,322		probably null	Het
Setd1b	A	T	5: 123,148,447	M519L	unknown	Het
Tep1	G	A	14: 50,862,491	Q426*	probably null	Het
Tesk1	G	T	4: 43,445,941	M291I	probably benign	Het
Tgs1	A	G	4: 3,595,439	D536G	probably benign	Het
Thbs1	C	T	2: 118,121,174	T825M	probably damaging	Het
Tmem59l	T	C	8: 70,485,164	N189D	possibly damaging	Het
Trim30c	A	T	7: 104,382,218	D463E	possibly damaging	Het
Trpc4	A	G	3: 54,315,654	Y706C	probably damaging	Het
Ttc13	A	T	8: 124,675,103		probably null	Het
Tulp1	T	C	17: 28,363,755	K140E	probably benign	Het
Urb2	A	G	8: 124,028,588	I345V	probably benign	Het
Vmn2r43	T	C	7: 8,255,489	M242V	probably benign	Het
Zcwpw1	T	C	5: 137,819,523	V509A	probably benign	Het
Zfp202	T	C	9: 40,211,147	C402R	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
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
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'- TCCCCGAGGCTCTTACAATC -3'
(R):5'- TCCTGTAAGCTAATAAAGTTCAGGGAC -3'

Sequencing Primer
(F):5'- CGAGGCTCTTACAATCCTTTTG -3'
(R):5'- TGGACAAGGACAGTGTTC -3'

Posted On

2019-10-17