Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Dnah7c'

608924

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

045936-MU

Accession Numbers

Essential gene?

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

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46464752-46846636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46830929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 3813 (L3813F)

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: L3813F

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: L3813F

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

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,422,593 (GRCm39)	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,171,810 (GRCm39)	E1530G	possibly damaging	Het
C3	A	G	17: 57,533,264 (GRCm39)	F113S	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Csmd1	T	C	8: 16,011,418 (GRCm39)	N2545S	probably damaging	Het
Ctsh	A	G	9: 89,943,476 (GRCm39)	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697 (GRCm39)	Y172F	probably benign	Het
Ddx52	A	G	11: 83,842,911 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 50,026,474 (GRCm39)	T1861A	possibly damaging	Het
Efl1	A	G	7: 82,307,307 (GRCm39)	I68V	probably damaging	Het
Etnk2	T	C	1: 133,293,438 (GRCm39)	V127A	possibly damaging	Het
Fank1	G	C	7: 133,478,554 (GRCm39)	R206P	probably damaging	Het
Fbxl9	A	G	8: 106,042,165 (GRCm39)	I221T	probably benign	Het
Fbxw27	G	A	9: 109,618,468 (GRCm39)	R73*	probably null	Het
Fndc1	A	T	17: 7,992,029 (GRCm39)	S556T	unknown	Het
Gnb3	T	C	6: 124,814,055 (GRCm39)	T178A	probably benign	Het
H2bc12	T	C	13: 22,220,225 (GRCm39)	S57P	probably damaging	Het
H2-M10.3	A	T	17: 36,677,174 (GRCm39)	L326Q	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,393,344 (GRCm39)		probably benign	Het
Kcnma1	G	A	14: 23,387,057 (GRCm39)	P995L	probably benign	Het
Lama1	G	A	17: 68,076,430 (GRCm39)	G1068D		Het
Lats1	A	T	10: 7,573,290 (GRCm39)	K125*	probably null	Het
Lipg	C	T	18: 75,081,078 (GRCm39)	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,518,909 (GRCm39)	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,612,370 (GRCm39)	G544D		Het
Lyst	A	T	13: 13,882,268 (GRCm39)	N2853I	probably benign	Het
Mars1	A	G	10: 127,136,114 (GRCm39)	I525T	probably damaging	Het
Miga2	T	A	2: 30,261,216 (GRCm39)	D170E	probably benign	Het
Mrpl34	T	C	8: 71,917,911 (GRCm39)	V28A	probably benign	Het
Muc16	A	T	9: 18,553,990 (GRCm39)	V4101E	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo1f	A	G	17: 33,817,270 (GRCm39)	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,337,988 (GRCm39)	T376I	probably benign	Het
Nsd1	A	G	13: 55,461,068 (GRCm39)	T2535A	probably damaging	Het
Nup98	T	A	7: 101,825,556 (GRCm39)	T428S	probably benign	Het
Omd	A	G	13: 49,743,630 (GRCm39)	M227V	probably damaging	Het
Osbpl7	A	C	11: 96,951,283 (GRCm39)	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,205,730 (GRCm39)	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,445,624 (GRCm39)	V537A	probably benign	Het
Pou2f2	T	C	7: 24,815,489 (GRCm39)	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,668,207 (GRCm39)	T640A	probably benign	Het
Ptar1	C	T	19: 23,686,158 (GRCm39)	P157S	probably benign	Het
Rapgef2	T	A	3: 78,973,933 (GRCm39)	D1471V	possibly damaging	Het
Rgs7	A	T	1: 174,977,216 (GRCm39)		probably null	Het
Rhag	A	G	17: 41,142,536 (GRCm39)	Y247C	probably benign	Het
Sardh	A	G	2: 27,129,383 (GRCm39)	I305T	probably damaging	Het
Scn11a	A	G	9: 119,633,617 (GRCm39)	I372T	probably benign	Het
Scn3a	G	T	2: 65,366,859 (GRCm39)	D54E	probably damaging	Het
Senp2	A	G	16: 21,832,981 (GRCm39)	T90A	probably benign	Het
Serpinh1	C	T	7: 98,998,495 (GRCm39)	R45H	probably benign	Het
Siglecg	T	C	7: 43,058,703 (GRCm39)	V152A	probably benign	Het
Sipa1l2	T	A	8: 126,174,337 (GRCm39)	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,759,002 (GRCm39)	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,492,509 (GRCm39)	L133Q	probably damaging	Het
Slc6a16	A	G	7: 44,908,771 (GRCm39)	E117G	probably damaging	Het
Thoc2l	T	C	5: 104,669,212 (GRCm39)	S1245P	possibly damaging	Het
Tmem235	G	A	11: 117,755,033 (GRCm39)	V162M	probably benign	Het
Trank1	A	G	9: 111,221,584 (GRCm39)	T2774A	probably benign	Het
Trav10n	A	T	14: 53,359,587 (GRCm39)	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,270,704 (GRCm39)	W55*	probably null	Het
Zfp654	G	T	16: 64,672,011 (GRCm39)	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
R4470:Dnah7c	UTSW	1	46,787,795 (GRCm39)	missense	possibly damaging	0.56
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	46,688,500 (GRCm39)	missense	probably benign
R6760:Dnah7c	UTSW	1	46,688,511 (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	46,823,608 (GRCm39)	missense	possibly damaging	0.95
R7319:Dnah7c	UTSW	1	46,819,935 (GRCm39)	missense	probably benign	0.31
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
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'- CCAGTAGCTTCTAAGTAGCCATG -3'
(R):5'- TTCTGATGTGGAAAGTGAAGCC -3'

Sequencing Primer
(F):5'- GTAGCTTCTAAGTAGCCATGTATTG -3'
(R):5'- GAAGTTAGTTAGACATCAGTGTGC -3'

Posted On

2019-12-20