Mutagenetix > Incidental Mutation

Incidental Mutation 'R8441:Dnah7c'

654189

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

067885-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R8441 (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 46533238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 957 (K957R)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000189749
AA Change: K957R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: K957R

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,257,230 (GRCm38)	Y1064H	possibly damaging	Het
Ahrr	T	C	13: 74,214,063 (GRCm38)	D567G	probably benign	Het
Aldh1b1	T	A	4: 45,802,465 (GRCm38)	M1K	probably null	Het
Ankrd12	A	T	17: 66,042,551 (GRCm38)	S96T	probably benign	Het
Arhgef10	A	T	8: 14,991,237 (GRCm38)		probably benign	Het
BB287469	T	G	12: 87,819,614 (GRCm38)	D98E	probably benign	Het
Bsn	G	A	9: 108,111,452 (GRCm38)	A2367V	probably benign	Het
Cmpk2	G	A	12: 26,477,205 (GRCm38)	A398T	probably benign	Het
Cpn2	A	G	16: 30,260,031 (GRCm38)	L284P	probably damaging	Het
Cubn	T	C	2: 13,427,847 (GRCm38)	D1221G	probably damaging	Het
Flnb	T	A	14: 7,896,488 (GRCm38)	V893E	probably benign	Het
Flrt3	C	A	2: 140,660,626 (GRCm38)	V361L	probably benign	Het
Fnta	G	A	8: 26,011,181 (GRCm38)	R104*	probably null	Het
Ggt1	C	T	10: 75,579,351 (GRCm38)	T233I	possibly damaging	Het
Gm15448	C	A	7: 3,823,302 (GRCm38)	E231*	probably null	Het
Gpr37l1	A	T	1: 135,167,137 (GRCm38)	V123E	probably damaging	Het
Grpel1	A	G	5: 36,465,212 (GRCm38)	R7G	probably benign	Het
H2-M10.5	A	T	17: 36,773,307 (GRCm38)	I54L	probably benign	Het
Mapk8ip3	A	T	17: 24,920,500 (GRCm38)		probably benign	Het
Mcm3	T	C	1: 20,814,466 (GRCm38)	D271G	probably benign	Het
Naip6	A	G	13: 100,285,757 (GRCm38)	V1256A	possibly damaging	Het
Nipbl	A	G	15: 8,293,115 (GRCm38)	V2604A	probably benign	Het
Nlrp1b	T	A	11: 71,182,378 (GRCm38)	D213V	probably damaging	Het
Npbwr1	G	A	1: 5,917,178 (GRCm38)	A39V	possibly damaging	Het
Nr6a1	T	C	2: 38,742,876 (GRCm38)	D191G	probably benign	Het
Olfml1	T	G	7: 107,567,770 (GRCm38)	V2G	probably benign	Het
Olfr1282	A	T	2: 111,335,786 (GRCm38)	Y97*	probably null	Het
Olfr1458	T	A	19: 13,102,656 (GRCm38)	Y216F	probably damaging	Het
Otof	T	C	5: 30,380,856 (GRCm38)	K1175E	probably damaging	Het
Plekhg2	C	T	7: 28,360,866 (GRCm38)	V989I	probably benign	Het
Prkcq	A	G	2: 11,248,226 (GRCm38)	D229G	probably benign	Het
Ptprf	A	T	4: 118,218,058 (GRCm38)		probably benign	Het
Rest	G	T	5: 77,281,919 (GRCm38)	Q728H	possibly damaging	Het
Scube1	A	T	15: 83,610,222 (GRCm38)	I868N	probably damaging	Het
Spcs3	A	G	8: 54,528,340 (GRCm38)		probably null	Het
Speg	A	G	1: 75,411,332 (GRCm38)	S1445G	possibly damaging	Het
Theg	C	A	10: 79,576,676 (GRCm38)	R327L	probably damaging	Het
Tmem145	T	C	7: 25,308,775 (GRCm38)	F261S	possibly damaging	Het
Trav9d-4	A	G	14: 52,983,827 (GRCm38)	S93G	probably benign	Het
Trbv5	T	A	6: 41,062,583 (GRCm38)	C41S	probably damaging	Het
Trpm5	A	G	7: 143,072,434 (GRCm38)	S1131P	possibly damaging	Het
Ttc28	C	T	5: 111,177,641 (GRCm38)	R313*	probably null	Het
Ubap2l	T	C	3: 90,012,700 (GRCm38)	T853A	unknown	Het
Xirp2	T	C	2: 67,512,815 (GRCm38)	V1800A	possibly damaging	Het
Zfhx2	A	G	14: 55,066,528 (GRCm38)	L1333P	possibly damaging	Het

Other mutations in Dnah7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Dnah7c	APN	1	46,807,289 (GRCm38)	missense	possibly damaging	0.72
IGL02958:Dnah7c	APN	1	46,657,111 (GRCm38)	missense	probably damaging	1.00
IGL03035:Dnah7c	APN	1	46,524,117 (GRCm38)	missense	probably benign	0.37
IGL03161:Dnah7c	APN	1	46,467,296 (GRCm38)	missense	probably benign	0.20
IGL03178:Dnah7c	APN	1	46,467,365 (GRCm38)	missense	probably benign
IGL03052:Dnah7c	UTSW	1	46,632,149 (GRCm38)	missense	probably damaging	1.00
R0751:Dnah7c	UTSW	1	46,465,905 (GRCm38)	missense	probably benign
R1029:Dnah7c	UTSW	1	46,612,721 (GRCm38)	missense	probably damaging	1.00
R3104:Dnah7c	UTSW	1	46,798,279 (GRCm38)	missense	probably damaging	0.97
R3977:Dnah7c	UTSW	1	46,628,911 (GRCm38)	missense	possibly damaging	0.75
R4003:Dnah7c	UTSW	1	46,681,817 (GRCm38)	missense	probably damaging	1.00
R4133:Dnah7c	UTSW	1	46,665,990 (GRCm38)	missense	probably benign	0.01
R4303:Dnah7c	UTSW	1	46,748,578 (GRCm38)	missense	probably damaging	1.00
R4329:Dnah7c	UTSW	1	46,649,281 (GRCm38)	missense	probably benign	0.33
R4434:Dnah7c	UTSW	1	46,666,282 (GRCm38)	missense	probably damaging	1.00
R4457:Dnah7c	UTSW	1	46,740,621 (GRCm38)	missense	probably damaging	1.00
R4470:Dnah7c	UTSW	1	46,748,635 (GRCm38)	missense	possibly damaging	0.56
R4507:Dnah7c	UTSW	1	46,766,611 (GRCm38)	missense	probably damaging	1.00
R4527:Dnah7c	UTSW	1	46,532,931 (GRCm38)	missense	probably benign	0.34
R4571:Dnah7c	UTSW	1	46,533,216 (GRCm38)	missense	probably damaging	0.99
R4589:Dnah7c	UTSW	1	46,514,583 (GRCm38)	nonsense	probably null
R4731:Dnah7c	UTSW	1	46,770,173 (GRCm38)	missense	probably damaging	1.00
R4732:Dnah7c	UTSW	1	46,770,173 (GRCm38)	missense	probably damaging	1.00
R4733:Dnah7c	UTSW	1	46,770,173 (GRCm38)	missense	probably damaging	1.00
R4747:Dnah7c	UTSW	1	46,533,168 (GRCm38)	missense	probably damaging	1.00
R4845:Dnah7c	UTSW	1	46,793,532 (GRCm38)	missense	probably damaging	1.00
R4873:Dnah7c	UTSW	1	46,688,925 (GRCm38)	missense	probably benign
R4875:Dnah7c	UTSW	1	46,688,925 (GRCm38)	missense	probably benign
R4916:Dnah7c	UTSW	1	46,595,008 (GRCm38)	missense	probably damaging	1.00
R5241:Dnah7c	UTSW	1	46,530,500 (GRCm38)	missense	probably benign
R5279:Dnah7c	UTSW	1	46,519,269 (GRCm38)	missense	probably benign	0.14
R5327:Dnah7c	UTSW	1	46,665,568 (GRCm38)	missense	probably benign	0.05
R5546:Dnah7c	UTSW	1	46,666,317 (GRCm38)	missense	probably damaging	1.00
R5605:Dnah7c	UTSW	1	46,798,235 (GRCm38)	missense	possibly damaging	0.84
R5637:Dnah7c	UTSW	1	46,760,361 (GRCm38)	splice site	probably null
R5639:Dnah7c	UTSW	1	46,739,668 (GRCm38)	missense	probably benign
R5663:Dnah7c	UTSW	1	46,535,148 (GRCm38)	missense	probably damaging	1.00
R5718:Dnah7c	UTSW	1	46,748,666 (GRCm38)	missense	possibly damaging	0.47
R5759:Dnah7c	UTSW	1	46,615,367 (GRCm38)	missense	probably damaging	1.00
R5771:Dnah7c	UTSW	1	46,639,665 (GRCm38)	missense	probably benign	0.00
R5784:Dnah7c	UTSW	1	46,524,068 (GRCm38)	missense	possibly damaging	0.80
R5800:Dnah7c	UTSW	1	46,647,015 (GRCm38)	missense	probably benign	0.01
R5933:Dnah7c	UTSW	1	46,519,215 (GRCm38)	missense	probably damaging	1.00
R5948:Dnah7c	UTSW	1	46,672,497 (GRCm38)	missense	probably benign	0.21
R6034:Dnah7c	UTSW	1	46,457,258 (GRCm38)	missense	probably benign	0.00
R6034:Dnah7c	UTSW	1	46,457,258 (GRCm38)	missense	probably benign	0.00
R6487:Dnah7c	UTSW	1	46,769,124 (GRCm38)	missense	probably damaging	1.00
R6536:Dnah7c	UTSW	1	46,658,290 (GRCm38)	missense	probably benign	0.00
R6614:Dnah7c	UTSW	1	46,649,351 (GRCm38)	missense	probably benign
R6614:Dnah7c	UTSW	1	46,649,340 (GRCm38)	missense	probably benign
R6615:Dnah7c	UTSW	1	46,649,351 (GRCm38)	missense	probably benign
R6615:Dnah7c	UTSW	1	46,515,439 (GRCm38)	missense	probably benign	0.01
R6615:Dnah7c	UTSW	1	46,649,340 (GRCm38)	missense	probably benign
R6649:Dnah7c	UTSW	1	46,649,351 (GRCm38)	missense	probably benign
R6649:Dnah7c	UTSW	1	46,649,340 (GRCm38)	missense	probably benign
R6650:Dnah7c	UTSW	1	46,649,351 (GRCm38)	missense	probably benign
R6650:Dnah7c	UTSW	1	46,649,340 (GRCm38)	missense	probably benign
R6651:Dnah7c	UTSW	1	46,649,351 (GRCm38)	missense	probably benign
R6651:Dnah7c	UTSW	1	46,649,340 (GRCm38)	missense	probably benign
R6653:Dnah7c	UTSW	1	46,649,351 (GRCm38)	missense	probably benign
R6653:Dnah7c	UTSW	1	46,649,340 (GRCm38)	missense	probably benign
R6714:Dnah7c	UTSW	1	46,740,806 (GRCm38)	missense	probably damaging	0.99
R6729:Dnah7c	UTSW	1	46,672,521 (GRCm38)	missense	possibly damaging	0.46
R6760:Dnah7c	UTSW	1	46,649,340 (GRCm38)	missense	probably benign
R6760:Dnah7c	UTSW	1	46,649,351 (GRCm38)	missense	probably benign
R6763:Dnah7c	UTSW	1	46,628,890 (GRCm38)	missense	possibly damaging	0.60
R6866:Dnah7c	UTSW	1	46,657,243 (GRCm38)	missense	probably damaging	1.00
R6880:Dnah7c	UTSW	1	46,527,671 (GRCm38)	missense	probably damaging	0.97
R6988:Dnah7c	UTSW	1	46,666,213 (GRCm38)	missense	possibly damaging	0.68
R6995:Dnah7c	UTSW	1	46,455,813 (GRCm38)	missense	probably benign	0.07
R7007:Dnah7c	UTSW	1	46,532,750 (GRCm38)	missense	probably benign	0.04
R7086:Dnah7c	UTSW	1	46,750,125 (GRCm38)	missense	probably benign	0.00
R7128:Dnah7c	UTSW	1	46,527,485 (GRCm38)	missense	probably benign
R7131:Dnah7c	UTSW	1	46,681,772 (GRCm38)	missense	probably benign	0.00
R7135:Dnah7c	UTSW	1	46,533,208 (GRCm38)	missense	probably damaging	1.00
R7171:Dnah7c	UTSW	1	46,680,738 (GRCm38)	missense	probably damaging	0.99
R7176:Dnah7c	UTSW	1	46,430,809 (GRCm38)	missense	probably benign	0.00
R7221:Dnah7c	UTSW	1	46,455,777 (GRCm38)	missense	possibly damaging	0.87
R7310:Dnah7c	UTSW	1	46,596,967 (GRCm38)	missense	possibly damaging	0.94
R7319:Dnah7c	UTSW	1	46,784,448 (GRCm38)	missense	possibly damaging	0.95
R7319:Dnah7c	UTSW	1	46,780,775 (GRCm38)	missense	probably benign	0.31
R7404:Dnah7c	UTSW	1	46,666,063 (GRCm38)	missense	possibly damaging	0.52
R7452:Dnah7c	UTSW	1	46,647,036 (GRCm38)	missense	possibly damaging	0.91
R7515:Dnah7c	UTSW	1	46,457,290 (GRCm38)	missense	probably benign
R7534:Dnah7c	UTSW	1	46,770,067 (GRCm38)	missense	probably damaging	0.98
R7542:Dnah7c	UTSW	1	46,784,498 (GRCm38)	missense	probably benign	0.00
R7605:Dnah7c	UTSW	1	46,632,310 (GRCm38)	missense	probably damaging	1.00
R7643:Dnah7c	UTSW	1	46,602,813 (GRCm38)	missense	probably benign
R7770:Dnah7c	UTSW	1	46,626,300 (GRCm38)	splice site	probably null
R7884:Dnah7c	UTSW	1	46,791,769 (GRCm38)	missense	probably benign	0.23
R7899:Dnah7c	UTSW	1	46,514,701 (GRCm38)	missense	probably benign	0.00
R8025:Dnah7c	UTSW	1	46,457,296 (GRCm38)	missense	probably benign	0.01
R8057:Dnah7c	UTSW	1	46,688,952 (GRCm38)	missense	possibly damaging	0.52
R8191:Dnah7c	UTSW	1	46,607,458 (GRCm38)	missense	possibly damaging	0.56
R8255:Dnah7c	UTSW	1	46,659,429 (GRCm38)	missense	probably damaging	1.00
R8428:Dnah7c	UTSW	1	46,672,376 (GRCm38)	missense	probably damaging	1.00
R8485:Dnah7c	UTSW	1	46,680,792 (GRCm38)	missense	probably benign	0.05
R8559:Dnah7c	UTSW	1	46,725,139 (GRCm38)	missense	probably damaging	1.00
R8752:Dnah7c	UTSW	1	46,672,541 (GRCm38)	missense	probably benign	0.00
R8869:Dnah7c	UTSW	1	46,632,344 (GRCm38)	missense	probably damaging	0.97
R9058:Dnah7c	UTSW	1	46,766,656 (GRCm38)	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46,777,736 (GRCm38)	missense	probably benign	0.00
R9121:Dnah7c	UTSW	1	46,665,490 (GRCm38)	missense	probably damaging	0.97
R9246:Dnah7c	UTSW	1	46,532,774 (GRCm38)	missense	possibly damaging	0.51
R9319:Dnah7c	UTSW	1	46,482,008 (GRCm38)	missense	possibly damaging	0.94
R9388:Dnah7c	UTSW	1	46,740,726 (GRCm38)	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46,615,281 (GRCm38)	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46,467,302 (GRCm38)	missense	probably benign	0.00
Z1176:Dnah7c	UTSW	1	46,760,316 (GRCm38)	missense	possibly damaging	0.95
Z1176:Dnah7c	UTSW	1	46,646,992 (GRCm38)	critical splice acceptor site	probably null
Z1176:Dnah7c	UTSW	1	46,639,665 (GRCm38)	missense	probably benign
Z1177:Dnah7c	UTSW	1	46,654,103 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CTCTTGAAAAGGCCATGGATAAG -3'
(R):5'- CCTCATAATGAATTTGACAGGATGG -3'

Sequencing Primer
(F):5'- TAAGATGATGACTGAATGGAACTCC -3'
(R):5'- GTCTCTACAGGTACCTAGACATATGC -3'

Posted On

2020-10-20