Mutagenetix > Incidental Mutation

Incidental Mutation 'R6880:Dnah7c'

536589

Institutional Source

Beutler Lab

Gene Symbol

Dnah7c

Ensembl Gene

ENSMUSG00000101337

Gene Name

dynein, axonemal, heavy chain 7C

Synonyms

Dnahc7c

MMRRC Submission

044976-MU

Accession Numbers

Essential gene?

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

Stock #

R6880 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46464752-46846636 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46566831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 681 (Y681H)

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: Y681H

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140430
Gene: ENSMUSG00000101337
AA Change: Y681H

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: 99.4%
20x: 98.1%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,123,854 (GRCm39)		probably null	Het
Aff3	T	C	1: 38,574,243 (GRCm39)	H206R	probably damaging	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Alg5	A	G	3: 54,646,264 (GRCm39)	E43G	probably damaging	Het
Ankrd36	T	C	11: 5,578,748 (GRCm39)	L4P	probably damaging	Het
Ano1	T	C	7: 144,198,479 (GRCm39)	Y345C	probably benign	Het
Atf7ip	A	G	6: 136,538,038 (GRCm39)	I432V	probably damaging	Het
B230307C23Rik	T	C	16: 97,798,627 (GRCm39)		probably benign	Het
Baz2b	T	A	2: 59,743,283 (GRCm39)	N1563Y	probably damaging	Het
Bhlha15	A	T	5: 144,128,451 (GRCm39)	T188S	probably damaging	Het
Cbr3	T	C	16: 93,487,426 (GRCm39)	V203A	probably benign	Het
Cpsf1	T	C	15: 76,486,739 (GRCm39)	T266A	probably benign	Het
Dock2	C	T	11: 34,579,279 (GRCm39)		probably null	Het
Dsc1	T	A	18: 20,221,429 (GRCm39)	D682V	probably damaging	Het
Fkbp15	A	T	4: 62,254,732 (GRCm39)	I256N	possibly damaging	Het
Foxd1	A	C	13: 98,491,225 (GRCm39)	D33A	unknown	Het
Gid4	T	A	11: 60,327,261 (GRCm39)	F149I	probably damaging	Het
Hmcn2	G	T	2: 31,233,068 (GRCm39)	V206L	probably damaging	Het
Ighg2b	T	C	12: 113,270,726 (GRCm39)	I135V		Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Impg1	T	A	9: 80,312,082 (GRCm39)	D167V	probably damaging	Het
Jakmip1	T	C	5: 37,262,967 (GRCm39)	S372P	possibly damaging	Het
Kcnb1	T	C	2: 166,947,727 (GRCm39)	T374A	probably damaging	Het
Lrrn4	A	G	2: 132,714,032 (GRCm39)	S305P	probably damaging	Het
Ltbp1	C	T	17: 75,628,044 (GRCm39)	T1179I	possibly damaging	Het
Mab21l2	A	G	3: 86,454,463 (GRCm39)	I179T	possibly damaging	Het
Myo5b	A	T	18: 74,855,501 (GRCm39)	H1230L	probably benign	Het
Myocos	T	C	1: 162,484,602 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,999 (GRCm39)	T249A	probably damaging	Het
Oas1a	C	A	5: 121,040,003 (GRCm39)	R196L	probably damaging	Het
Or2ag18	A	T	7: 106,405,019 (GRCm39)	S217T	probably damaging	Het
Or5an11	A	G	19: 12,245,974 (GRCm39)	I127V	probably benign	Het
Or8k41	A	G	2: 86,314,069 (GRCm39)	F6L	probably benign	Het
Phxr2	G	A	10: 98,961,946 (GRCm39)		probably benign	Het
Pigq	A	G	17: 26,153,802 (GRCm39)	L85P	probably damaging	Het
Pla2g4a	T	A	1: 149,727,202 (GRCm39)	D518V	possibly damaging	Het
Pm20d1	A	G	1: 131,731,839 (GRCm39)	K294E	probably benign	Het
Polr3d	C	A	14: 70,677,455 (GRCm39)	R307L	probably benign	Het
Pou5f2	T	C	13: 78,173,613 (GRCm39)	L185P	possibly damaging	Het
Prex2	A	T	1: 11,202,608 (GRCm39)	N506Y	probably damaging	Het
Proser1	T	A	3: 53,385,260 (GRCm39)	S381T	probably benign	Het
Prpf4b	T	C	13: 35,078,436 (GRCm39)	V682A	possibly damaging	Het
Prr14l	A	T	5: 32,988,211 (GRCm39)	L428Q	probably benign	Het
Prss23	A	G	7: 89,160,033 (GRCm39)	V12A	probably benign	Het
Qki	T	C	17: 10,434,376 (GRCm39)	D321G	probably benign	Het
Rab11fip5	A	G	6: 85,325,827 (GRCm39)	L193P	probably damaging	Het
Retreg1	T	G	15: 25,971,825 (GRCm39)	L245R	probably damaging	Het
Rfc1	T	C	5: 65,434,729 (GRCm39)	N679S	probably benign	Het
Rpl4	C	T	9: 64,084,335 (GRCm39)	A220V	probably damaging	Het
Rxra	G	A	2: 27,638,668 (GRCm39)	E224K	possibly damaging	Het
Slc26a7	A	G	4: 14,516,159 (GRCm39)	C557R	possibly damaging	Het
Sncaip	A	G	18: 53,002,136 (GRCm39)	K219R	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sphkap	A	G	1: 83,234,978 (GRCm39)	V1616A	probably damaging	Het
Sulf1	T	C	1: 12,912,979 (GRCm39)	C738R	probably damaging	Het
Suz12	T	A	11: 79,892,998 (GRCm39)	C38*	probably null	Het
Ttn	T	C	2: 76,550,842 (GRCm39)	T23190A	probably damaging	Het
Twnk	A	G	19: 44,995,855 (GRCm39)	D96G	probably benign	Het
Vcan	T	A	13: 89,860,500 (GRCm39)	N289I	probably damaging	Het
Vmn2r120	A	T	17: 57,816,187 (GRCm39)	S723T	probably damaging	Het
Vmn2r97	A	T	17: 19,134,770 (GRCm39)	I63F	probably benign	Het
Washc5	T	C	15: 59,222,021 (GRCm39)	N125S	probably benign	Het
Zfp865	A	G	7: 5,033,548 (GRCm39)	Y511C	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
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'- CTGACATGTTGGAGCTGAGAC -3'
(R):5'- CCACATCAATCAGGGCACTTG -3'

Sequencing Primer
(F):5'- CTGAGACAGAGACTTGTGGATTC -3'
(R):5'- AGGGCACTTGAATCACTCCTTAG -3'

Posted On

2018-10-18