Mutagenetix > Incidental Mutation

Incidental Mutation 'R4470:Dnah7c'

329350

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

041727-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R4470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46464752-46846636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46787795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 3283 (S3283T)

Ref Sequence

ENSEMBL: ENSMUSP00000140430 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189749
AA Change: S3283T

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: S3283T

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

0.1171

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,595,404 (GRCm39)	V258G	possibly damaging	Het
Adcy1	A	G	11: 7,094,804 (GRCm39)	T577A	probably benign	Het
Adgb	T	C	10: 10,274,695 (GRCm39)	N728S	probably benign	Het
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Atp13a1	T	C	8: 70,251,329 (GRCm39)	S495P	probably damaging	Het
Camta2	T	C	11: 70,571,766 (GRCm39)	D510G	probably damaging	Het
Cdh8	T	A	8: 100,143,321 (GRCm39)		probably benign	Het
Cul9	C	T	17: 46,849,262 (GRCm39)	A628T	probably benign	Het
Ddx19a	A	G	8: 111,703,111 (GRCm39)	V442A	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Fmo9	T	A	1: 166,507,799 (GRCm39)	I19F	probably damaging	Het
Gmeb2	A	T	2: 180,906,938 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,219,035 (GRCm39)	R23C	probably benign	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Il16	A	G	7: 83,300,046 (GRCm39)		probably benign	Het
Kcnj3	A	T	2: 55,327,877 (GRCm39)	H222L	probably damaging	Het
Lama4	T	A	10: 38,956,492 (GRCm39)	Y1138*	probably null	Het
Lpin3	A	G	2: 160,737,354 (GRCm39)	T134A	probably benign	Het
Man1b1	C	G	2: 25,222,867 (GRCm39)		probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mylk	A	G	16: 34,732,522 (GRCm39)	K601E	probably benign	Het
Myzap	A	G	9: 71,499,563 (GRCm39)		probably benign	Het
Ncor2	A	T	5: 125,179,705 (GRCm39)		probably null	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or1j16	T	C	2: 36,530,233 (GRCm39)	F61L	probably damaging	Het
Or4c114	T	C	2: 88,905,382 (GRCm39)	N18D	probably benign	Het
Or4d6	T	C	19: 12,086,547 (GRCm39)		probably null	Het
Or51b4	G	A	7: 103,530,956 (GRCm39)	P165S	probably benign	Het
Or6c202	G	A	10: 128,996,383 (GRCm39)	L157F	probably benign	Het
Or8c13	A	G	9: 38,091,666 (GRCm39)	M151T	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Pramel5	T	C	4: 143,997,915 (GRCm39)	K443E	possibly damaging	Het
Rock2	C	T	12: 17,021,276 (GRCm39)	Q1019*	probably null	Het
Rps18-ps3	T	A	8: 107,989,762 (GRCm39)		noncoding transcript	Het
Sis	T	C	3: 72,835,492 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,846,839 (GRCm39)	I345F	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Taf1c	T	C	8: 120,326,361 (GRCm39)	K526R	probably benign	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tbx4	A	G	11: 85,802,948 (GRCm39)	I275V	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trim69	A	G	2: 122,009,080 (GRCm39)	Y380C	probably damaging	Het
Vldlr	G	T	19: 27,212,219 (GRCm39)	V78L	probably damaging	Het
Vmn1r68	A	T	7: 10,261,275 (GRCm39)	N274K	probably benign	Het
Vmn2r104	G	T	17: 20,262,503 (GRCm39)	S209Y	probably damaging	Het
Vmn2r108	T	A	17: 20,682,990 (GRCm39)	N738I	probably damaging	Het
Wnt3	A	G	11: 103,703,450 (GRCm39)	D311G	probably damaging	Het
Yme1l1	T	C	2: 23,076,344 (GRCm39)		probably null	Het
Zcchc14	C	T	8: 122,378,498 (GRCm39)		probably benign	Het
Zfp148	T	C	16: 33,316,602 (GRCm39)	Y383H	probably damaging	Het
Zfp41	A	G	15: 75,490,368 (GRCm39)	R107G	probably damaging	Het

Other mutations in Dnah7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:Dnah7c	APN	1	46,846,449 (GRCm39)	missense	possibly damaging	0.72
IGL02958:Dnah7c	APN	1	46,696,271 (GRCm39)	missense	probably damaging	1.00
IGL03035:Dnah7c	APN	1	46,563,277 (GRCm39)	missense	probably benign	0.37
IGL03161:Dnah7c	APN	1	46,506,456 (GRCm39)	missense	probably benign	0.20
IGL03178:Dnah7c	APN	1	46,506,525 (GRCm39)	missense	probably benign
IGL03052:Dnah7c	UTSW	1	46,671,309 (GRCm39)	missense	probably damaging	1.00
R0751:Dnah7c	UTSW	1	46,505,065 (GRCm39)	missense	probably benign
R1029:Dnah7c	UTSW	1	46,651,881 (GRCm39)	missense	probably damaging	1.00
R3104:Dnah7c	UTSW	1	46,837,439 (GRCm39)	missense	probably damaging	0.97
R3977:Dnah7c	UTSW	1	46,668,071 (GRCm39)	missense	possibly damaging	0.75
R4003:Dnah7c	UTSW	1	46,720,977 (GRCm39)	missense	probably damaging	1.00
R4133:Dnah7c	UTSW	1	46,705,150 (GRCm39)	missense	probably benign	0.01
R4303:Dnah7c	UTSW	1	46,787,738 (GRCm39)	missense	probably damaging	1.00
R4329:Dnah7c	UTSW	1	46,688,441 (GRCm39)	missense	probably benign	0.33
R4434:Dnah7c	UTSW	1	46,705,442 (GRCm39)	missense	probably damaging	1.00
R4457:Dnah7c	UTSW	1	46,779,781 (GRCm39)	missense	probably damaging	1.00
R4507:Dnah7c	UTSW	1	46,805,771 (GRCm39)	missense	probably damaging	1.00
R4527:Dnah7c	UTSW	1	46,572,091 (GRCm39)	missense	probably benign	0.34
R4571:Dnah7c	UTSW	1	46,572,376 (GRCm39)	missense	probably damaging	0.99
R4589:Dnah7c	UTSW	1	46,553,743 (GRCm39)	nonsense	probably null
R4731:Dnah7c	UTSW	1	46,809,333 (GRCm39)	missense	probably damaging	1.00
R4732:Dnah7c	UTSW	1	46,809,333 (GRCm39)	missense	probably damaging	1.00
R4733:Dnah7c	UTSW	1	46,809,333 (GRCm39)	missense	probably damaging	1.00
R4747:Dnah7c	UTSW	1	46,572,328 (GRCm39)	missense	probably damaging	1.00
R4845:Dnah7c	UTSW	1	46,832,692 (GRCm39)	missense	probably damaging	1.00
R4873:Dnah7c	UTSW	1	46,728,085 (GRCm39)	missense	probably benign
R4875:Dnah7c	UTSW	1	46,728,085 (GRCm39)	missense	probably benign
R4916:Dnah7c	UTSW	1	46,634,168 (GRCm39)	missense	probably damaging	1.00
R5241:Dnah7c	UTSW	1	46,569,660 (GRCm39)	missense	probably benign
R5279:Dnah7c	UTSW	1	46,558,429 (GRCm39)	missense	probably benign	0.14
R5327:Dnah7c	UTSW	1	46,704,728 (GRCm39)	missense	probably benign	0.05
R5546:Dnah7c	UTSW	1	46,705,477 (GRCm39)	missense	probably damaging	1.00
R5605:Dnah7c	UTSW	1	46,837,395 (GRCm39)	missense	possibly damaging	0.84
R5637:Dnah7c	UTSW	1	46,799,521 (GRCm39)	splice site	probably null
R5639:Dnah7c	UTSW	1	46,778,828 (GRCm39)	missense	probably benign
R5663:Dnah7c	UTSW	1	46,574,308 (GRCm39)	missense	probably damaging	1.00
R5718:Dnah7c	UTSW	1	46,787,826 (GRCm39)	missense	possibly damaging	0.47
R5759:Dnah7c	UTSW	1	46,654,527 (GRCm39)	missense	probably damaging	1.00
R5771:Dnah7c	UTSW	1	46,678,825 (GRCm39)	missense	probably benign	0.00
R5784:Dnah7c	UTSW	1	46,563,228 (GRCm39)	missense	possibly damaging	0.80
R5800:Dnah7c	UTSW	1	46,686,175 (GRCm39)	missense	probably benign	0.01
R5933:Dnah7c	UTSW	1	46,558,375 (GRCm39)	missense	probably damaging	1.00
R5948:Dnah7c	UTSW	1	46,711,657 (GRCm39)	missense	probably benign	0.21
R6034:Dnah7c	UTSW	1	46,496,418 (GRCm39)	missense	probably benign	0.00
R6034:Dnah7c	UTSW	1	46,496,418 (GRCm39)	missense	probably benign	0.00
R6487:Dnah7c	UTSW	1	46,808,284 (GRCm39)	missense	probably damaging	1.00
R6536:Dnah7c	UTSW	1	46,697,450 (GRCm39)	missense	probably benign	0.00
R6614:Dnah7c	UTSW	1	46,688,511 (GRCm39)	missense	probably benign
R6614:Dnah7c	UTSW	1	46,688,500 (GRCm39)	missense	probably benign
R6615:Dnah7c	UTSW	1	46,688,511 (GRCm39)	missense	probably benign
R6615:Dnah7c	UTSW	1	46,554,599 (GRCm39)	missense	probably benign	0.01
R6615:Dnah7c	UTSW	1	46,688,500 (GRCm39)	missense	probably benign
R6649:Dnah7c	UTSW	1	46,688,511 (GRCm39)	missense	probably benign
R6649:Dnah7c	UTSW	1	46,688,500 (GRCm39)	missense	probably benign
R6650:Dnah7c	UTSW	1	46,688,511 (GRCm39)	missense	probably benign
R6650:Dnah7c	UTSW	1	46,688,500 (GRCm39)	missense	probably benign
R6651:Dnah7c	UTSW	1	46,688,511 (GRCm39)	missense	probably benign
R6651:Dnah7c	UTSW	1	46,688,500 (GRCm39)	missense	probably benign
R6653:Dnah7c	UTSW	1	46,688,511 (GRCm39)	missense	probably benign
R6653:Dnah7c	UTSW	1	46,688,500 (GRCm39)	missense	probably benign
R6714:Dnah7c	UTSW	1	46,779,966 (GRCm39)	missense	probably damaging	0.99
R6729:Dnah7c	UTSW	1	46,711,681 (GRCm39)	missense	possibly damaging	0.46
R6760:Dnah7c	UTSW	1	46,688,511 (GRCm39)	missense	probably benign
R6760:Dnah7c	UTSW	1	46,688,500 (GRCm39)	missense	probably benign
R6763:Dnah7c	UTSW	1	46,668,050 (GRCm39)	missense	possibly damaging	0.60
R6866:Dnah7c	UTSW	1	46,696,403 (GRCm39)	missense	probably damaging	1.00
R6880:Dnah7c	UTSW	1	46,566,831 (GRCm39)	missense	probably damaging	0.97
R6988:Dnah7c	UTSW	1	46,705,373 (GRCm39)	missense	possibly damaging	0.68
R6995:Dnah7c	UTSW	1	46,494,973 (GRCm39)	missense	probably benign	0.07
R7007:Dnah7c	UTSW	1	46,571,910 (GRCm39)	missense	probably benign	0.04
R7086:Dnah7c	UTSW	1	46,789,285 (GRCm39)	missense	probably benign	0.00
R7128:Dnah7c	UTSW	1	46,566,645 (GRCm39)	missense	probably benign
R7131:Dnah7c	UTSW	1	46,720,932 (GRCm39)	missense	probably benign	0.00
R7135:Dnah7c	UTSW	1	46,572,368 (GRCm39)	missense	probably damaging	1.00
R7171:Dnah7c	UTSW	1	46,719,898 (GRCm39)	missense	probably damaging	0.99
R7176:Dnah7c	UTSW	1	46,469,969 (GRCm39)	missense	probably benign	0.00
R7221:Dnah7c	UTSW	1	46,494,937 (GRCm39)	missense	possibly damaging	0.87
R7310:Dnah7c	UTSW	1	46,636,127 (GRCm39)	missense	possibly damaging	0.94
R7319:Dnah7c	UTSW	1	46,819,935 (GRCm39)	missense	probably benign	0.31
R7319:Dnah7c	UTSW	1	46,823,608 (GRCm39)	missense	possibly damaging	0.95
R7404:Dnah7c	UTSW	1	46,705,223 (GRCm39)	missense	possibly damaging	0.52
R7452:Dnah7c	UTSW	1	46,686,196 (GRCm39)	missense	possibly damaging	0.91
R7515:Dnah7c	UTSW	1	46,496,450 (GRCm39)	missense	probably benign
R7534:Dnah7c	UTSW	1	46,809,227 (GRCm39)	missense	probably damaging	0.98
R7542:Dnah7c	UTSW	1	46,823,658 (GRCm39)	missense	probably benign	0.00
R7605:Dnah7c	UTSW	1	46,671,470 (GRCm39)	missense	probably damaging	1.00
R7643:Dnah7c	UTSW	1	46,641,973 (GRCm39)	missense	probably benign
R7770:Dnah7c	UTSW	1	46,665,460 (GRCm39)	splice site	probably null
R7884:Dnah7c	UTSW	1	46,830,929 (GRCm39)	missense	probably benign	0.23
R7899:Dnah7c	UTSW	1	46,553,861 (GRCm39)	missense	probably benign	0.00
R8025:Dnah7c	UTSW	1	46,496,456 (GRCm39)	missense	probably benign	0.01
R8057:Dnah7c	UTSW	1	46,728,112 (GRCm39)	missense	possibly damaging	0.52
R8191:Dnah7c	UTSW	1	46,646,618 (GRCm39)	missense	possibly damaging	0.56
R8255:Dnah7c	UTSW	1	46,698,589 (GRCm39)	missense	probably damaging	1.00
R8428:Dnah7c	UTSW	1	46,711,536 (GRCm39)	missense	probably damaging	1.00
R8441:Dnah7c	UTSW	1	46,572,398 (GRCm39)	missense	probably damaging	1.00
R8485:Dnah7c	UTSW	1	46,719,952 (GRCm39)	missense	probably benign	0.05
R8559:Dnah7c	UTSW	1	46,764,299 (GRCm39)	missense	probably damaging	1.00
R8752:Dnah7c	UTSW	1	46,711,701 (GRCm39)	missense	probably benign	0.00
R8869:Dnah7c	UTSW	1	46,671,504 (GRCm39)	missense	probably damaging	0.97
R9058:Dnah7c	UTSW	1	46,805,816 (GRCm39)	missense	probably damaging	0.97
R9121:Dnah7c	UTSW	1	46,816,896 (GRCm39)	missense	probably benign	0.00
R9121:Dnah7c	UTSW	1	46,704,650 (GRCm39)	missense	probably damaging	0.97
R9246:Dnah7c	UTSW	1	46,571,934 (GRCm39)	missense	possibly damaging	0.51
R9319:Dnah7c	UTSW	1	46,521,168 (GRCm39)	missense	possibly damaging	0.94
R9388:Dnah7c	UTSW	1	46,779,886 (GRCm39)	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46,654,441 (GRCm39)	missense	probably damaging	1.00
Z1176:Dnah7c	UTSW	1	46,506,462 (GRCm39)	missense	probably benign	0.00
Z1176:Dnah7c	UTSW	1	46,799,476 (GRCm39)	missense	possibly damaging	0.95
Z1176:Dnah7c	UTSW	1	46,686,152 (GRCm39)	critical splice acceptor site	probably null
Z1176:Dnah7c	UTSW	1	46,678,825 (GRCm39)	missense	probably benign
Z1177:Dnah7c	UTSW	1	46,693,263 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TAGCAGTCTGTGGGGCAATC -3'
(R):5'- TCTTCCGCAAAGACTAGAAAATGAC -3'

Sequencing Primer
(F):5'- GTGGGGCAATCTTAGCATTCCC -3'
(R):5'- TCTACAGGTAATACAACTGGGCCTAG -3'

Posted On

2015-07-21