Mutagenetix > Incidental Mutation

Incidental Mutation 'R7115:Dnah14'

551715

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

Dnahc14, Gm980, LOC381311, A230079K17Rik

MMRRC Submission

045206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181720145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 2504 (K2504N)

Ref Sequence

ENSEMBL: ENSMUSP00000146843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000208001]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000208001
AA Change: K2504N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725 (GRCm38)	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696 (GRCm38)	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637 (GRCm38)		probably benign	Het
Ap5m1	T	A	14: 49,086,270 (GRCm38)	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953 (GRCm38)	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876 (GRCm38)	K267R		Het
BC067074	T	G	13: 113,320,776 (GRCm38)	S1119A		Het
Carf	G	T	1: 60,148,150 (GRCm38)	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,883,810 (GRCm38)	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246 (GRCm38)	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,781,805 (GRCm38)	C96R	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803 (GRCm38)		probably benign	Het
Dennd2a	G	A	6: 39,506,711 (GRCm38)	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,894,754 (GRCm38)	Y1248H	probably damaging	Het
Dnajb2	G	A	1: 75,243,662 (GRCm38)	G275D		Het
Elf3	T	G	1: 135,257,118 (GRCm38)	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489 (GRCm38)	N534S	probably benign	Het
Fry	A	T	5: 150,386,067 (GRCm38)	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380 (GRCm38)	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299 (GRCm38)	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052 (GRCm38)	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235 (GRCm38)	N2338Y		Het
Map2k1	A	G	9: 64,212,606 (GRCm38)	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648 (GRCm38)	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707 (GRCm38)	Y79C	probably benign	Het
Pxylp1	G	A	9: 96,825,010 (GRCm38)	T373I	probably benign	Het
Ranbp9	T	C	13: 43,406,671 (GRCm38)	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249 (GRCm38)	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446 (GRCm38)	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618 (GRCm38)	Q666*	probably null	Het
Spice1	G	A	16: 44,379,275 (GRCm38)	G697R	probably benign	Het
Tas2r131	A	G	6: 132,957,604 (GRCm38)	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817 (GRCm38)	S572L	probably damaging	Het
Tfr2	A	G	5: 137,571,715 (GRCm38)	T128A	probably benign	Het
Trim56	T	A	5: 137,113,660 (GRCm38)	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528 (GRCm38)	R840*	probably null	Het

Other mutations in Dnah14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Dnah14	APN	1	181,752,046 (GRCm38)	missense	probably benign	0.17
IGL01764:Dnah14	APN	1	181,744,777 (GRCm38)	missense	probably benign	0.00
IGL03218:Dnah14	APN	1	181,755,269 (GRCm38)	missense	probably benign	0.02
IGL03290:Dnah14	APN	1	181,763,978 (GRCm38)	splice site	probably benign
IGL03384:Dnah14	APN	1	181,745,949 (GRCm38)	missense	probably benign	0.03
R0009:Dnah14	UTSW	1	181,769,407 (GRCm38)	splice site	probably benign
R0125:Dnah14	UTSW	1	181,752,063 (GRCm38)	missense	probably damaging	0.99
R0579:Dnah14	UTSW	1	181,744,747 (GRCm38)	missense	possibly damaging	0.72
R0973:Dnah14	UTSW	1	181,752,145 (GRCm38)	missense	probably damaging	1.00
R0973:Dnah14	UTSW	1	181,752,145 (GRCm38)	missense	probably damaging	1.00
R0974:Dnah14	UTSW	1	181,752,145 (GRCm38)	missense	probably damaging	1.00
R1609:Dnah14	UTSW	1	181,750,177 (GRCm38)	missense	probably damaging	0.97
R1860:Dnah14	UTSW	1	181,763,960 (GRCm38)	missense	probably damaging	1.00
R2050:Dnah14	UTSW	1	181,752,562 (GRCm38)	missense	probably damaging	1.00
R2974:Dnah14	UTSW	1	181,755,241 (GRCm38)	critical splice acceptor site	probably null
R4715:Dnah14	UTSW	1	181,757,223 (GRCm38)	missense	probably damaging	1.00
R5076:Dnah14	UTSW	1	181,757,234 (GRCm38)	missense	probably benign	0.01
R5424:Dnah14	UTSW	1	181,763,310 (GRCm38)	missense	possibly damaging	0.95
R5808:Dnah14	UTSW	1	181,741,159 (GRCm38)	missense	possibly damaging	0.72
R5997:Dnah14	UTSW	1	181,770,105 (GRCm38)	missense	probably benign	0.00
R6052:Dnah14	UTSW	1	181,666,487 (GRCm38)	missense	possibly damaging	0.50
R6061:Dnah14	UTSW	1	181,709,051 (GRCm38)	missense	probably damaging	1.00
R6089:Dnah14	UTSW	1	181,750,154 (GRCm38)	missense	probably damaging	1.00
R6092:Dnah14	UTSW	1	181,621,833 (GRCm38)	missense	probably benign	0.13
R6145:Dnah14	UTSW	1	181,666,417 (GRCm38)	missense	probably benign	0.00
R6163:Dnah14	UTSW	1	181,666,361 (GRCm38)	missense	probably benign	0.33
R6246:Dnah14	UTSW	1	181,680,888 (GRCm38)	missense	probably benign	0.00
R6302:Dnah14	UTSW	1	181,601,206 (GRCm38)	missense	possibly damaging	0.96
R6306:Dnah14	UTSW	1	181,585,024 (GRCm38)	frame shift	probably null
R6326:Dnah14	UTSW	1	181,783,556 (GRCm38)	missense	probably damaging	1.00
R6348:Dnah14	UTSW	1	181,626,720 (GRCm38)	missense	possibly damaging	0.83
R6367:Dnah14	UTSW	1	181,755,386 (GRCm38)	splice site	probably null
R6376:Dnah14	UTSW	1	181,605,894 (GRCm38)	missense	possibly damaging	0.79
R6389:Dnah14	UTSW	1	181,651,202 (GRCm38)	critical splice donor site	probably null
R6433:Dnah14	UTSW	1	181,651,657 (GRCm38)	missense	probably damaging	0.99
R6454:Dnah14	UTSW	1	181,783,705 (GRCm38)	missense	probably damaging	1.00
R6476:Dnah14	UTSW	1	181,744,768 (GRCm38)	missense	probably benign	0.26
R6523:Dnah14	UTSW	1	181,643,621 (GRCm38)	missense	probably benign	0.00
R6529:Dnah14	UTSW	1	181,666,469 (GRCm38)	missense	probably damaging	0.98
R6538:Dnah14	UTSW	1	181,584,985 (GRCm38)	missense	unknown
R6546:Dnah14	UTSW	1	181,738,987 (GRCm38)	missense	probably damaging	1.00
R6752:Dnah14	UTSW	1	181,593,452 (GRCm38)	missense	probably benign	0.07
R6762:Dnah14	UTSW	1	181,757,259 (GRCm38)	missense	probably damaging	1.00
R6786:Dnah14	UTSW	1	181,641,405 (GRCm38)	missense	probably benign	0.21
R6849:Dnah14	UTSW	1	181,808,945 (GRCm38)	missense	probably benign	0.00
R6877:Dnah14	UTSW	1	181,628,432 (GRCm38)	missense	possibly damaging	0.82
R6912:Dnah14	UTSW	1	181,750,183 (GRCm38)	missense	possibly damaging	0.83
R6919:Dnah14	UTSW	1	181,585,066 (GRCm38)	missense	probably benign	0.04
R6924:Dnah14	UTSW	1	181,627,952 (GRCm38)	missense	probably benign	0.04
R6957:Dnah14	UTSW	1	181,785,175 (GRCm38)	missense	possibly damaging	0.92
R6980:Dnah14	UTSW	1	181,648,230 (GRCm38)	missense	probably benign	0.00
R7018:Dnah14	UTSW	1	181,626,944 (GRCm38)	missense	possibly damaging	0.55
R7046:Dnah14	UTSW	1	181,623,003 (GRCm38)	missense	probably benign	0.01
R7058:Dnah14	UTSW	1	181,698,049 (GRCm38)	missense	probably benign	0.00
R7068:Dnah14	UTSW	1	181,769,790 (GRCm38)	missense	probably benign	0.35
R7130:Dnah14	UTSW	1	181,745,958 (GRCm38)	nonsense	probably null
R7165:Dnah14	UTSW	1	181,704,535 (GRCm38)	missense	probably benign	0.00
R7169:Dnah14	UTSW	1	181,702,365 (GRCm38)	missense	probably benign	0.00
R7184:Dnah14	UTSW	1	181,704,529 (GRCm38)	nonsense	probably null
R7232:Dnah14	UTSW	1	181,757,363 (GRCm38)	missense	probably damaging	1.00
R7260:Dnah14	UTSW	1	181,706,744 (GRCm38)	missense	probably damaging	0.99
R7276:Dnah14	UTSW	1	181,685,807 (GRCm38)	missense	probably benign	0.41
R7290:Dnah14	UTSW	1	181,628,174 (GRCm38)	missense	probably benign	0.20
R7314:Dnah14	UTSW	1	181,785,254 (GRCm38)	splice site	probably null
R7326:Dnah14	UTSW	1	181,598,403 (GRCm38)	missense	probably benign	0.02
R7336:Dnah14	UTSW	1	181,797,734 (GRCm38)	missense	probably damaging	0.96
R7363:Dnah14	UTSW	1	181,690,524 (GRCm38)	splice site	probably null
R7371:Dnah14	UTSW	1	181,626,885 (GRCm38)	missense	probably benign	0.05
R7376:Dnah14	UTSW	1	181,763,402 (GRCm38)	missense	probably benign	0.03
R7418:Dnah14	UTSW	1	181,616,742 (GRCm38)	missense	possibly damaging	0.92
R7473:Dnah14	UTSW	1	181,752,139 (GRCm38)	missense	probably damaging	0.99
R7514:Dnah14	UTSW	1	181,628,067 (GRCm38)	missense	probably damaging	0.96
R7555:Dnah14	UTSW	1	181,770,054 (GRCm38)	missense	probably benign	0.26
R7641:Dnah14	UTSW	1	181,707,533 (GRCm38)	missense	probably benign	0.01
R7663:Dnah14	UTSW	1	181,752,155 (GRCm38)	splice site	probably null
R7674:Dnah14	UTSW	1	181,707,533 (GRCm38)	missense	probably benign	0.01
R7680:Dnah14	UTSW	1	181,685,800 (GRCm38)	missense	probably benign	0.15
R7709:Dnah14	UTSW	1	181,702,484 (GRCm38)	critical splice donor site	probably null
R7842:Dnah14	UTSW	1	181,627,898 (GRCm38)	missense	probably damaging	0.99
R7861:Dnah14	UTSW	1	181,616,759 (GRCm38)	missense	probably damaging	1.00
R7988:Dnah14	UTSW	1	181,783,574 (GRCm38)	missense	probably damaging	0.97
R8016:Dnah14	UTSW	1	181,648,311 (GRCm38)	missense	probably benign	0.05
R8042:Dnah14	UTSW	1	181,643,631 (GRCm38)	critical splice donor site	probably null
R8071:Dnah14	UTSW	1	181,615,894 (GRCm38)	missense	possibly damaging	0.84
R8086:Dnah14	UTSW	1	181,766,232 (GRCm38)	missense	probably damaging	1.00
R8095:Dnah14	UTSW	1	181,806,032 (GRCm38)	nonsense	probably null
R8139:Dnah14	UTSW	1	181,755,288 (GRCm38)	missense	probably damaging	1.00
R8176:Dnah14	UTSW	1	181,657,033 (GRCm38)	missense	probably damaging	0.96
R8193:Dnah14	UTSW	1	181,688,205 (GRCm38)	missense	probably damaging	1.00
R8197:Dnah14	UTSW	1	181,690,101 (GRCm38)	missense	possibly damaging	0.94
R8209:Dnah14	UTSW	1	181,795,545 (GRCm38)	missense	possibly damaging	0.69
R8226:Dnah14	UTSW	1	181,795,545 (GRCm38)	missense	possibly damaging	0.69
R8251:Dnah14	UTSW	1	181,664,865 (GRCm38)	missense	probably damaging	1.00
R8264:Dnah14	UTSW	1	181,744,792 (GRCm38)	missense	probably damaging	0.99
R8284:Dnah14	UTSW	1	181,773,811 (GRCm38)	missense	probably benign	0.03
R8289:Dnah14	UTSW	1	181,716,215 (GRCm38)	nonsense	probably null
R8323:Dnah14	UTSW	1	181,704,544 (GRCm38)	missense	probably benign	0.01
R8442:Dnah14	UTSW	1	181,741,284 (GRCm38)	missense	probably damaging	0.97
R8458:Dnah14	UTSW	1	181,806,012 (GRCm38)	missense
R8507:Dnah14	UTSW	1	181,641,414 (GRCm38)	missense	probably benign	0.02
R8509:Dnah14	UTSW	1	181,814,655 (GRCm38)	missense
R8520:Dnah14	UTSW	1	181,653,638 (GRCm38)	missense	probably damaging	1.00
R8530:Dnah14	UTSW	1	181,664,946 (GRCm38)	missense	probably damaging	1.00
R8703:Dnah14	UTSW	1	181,666,011 (GRCm38)	nonsense	probably null
R8710:Dnah14	UTSW	1	181,690,311 (GRCm38)	missense	probably benign	0.04
R8752:Dnah14	UTSW	1	181,628,016 (GRCm38)	missense	probably benign	0.00
R8792:Dnah14	UTSW	1	181,814,624 (GRCm38)	missense
R8797:Dnah14	UTSW	1	181,637,847 (GRCm38)	missense	probably benign	0.19
R8821:Dnah14	UTSW	1	181,792,004 (GRCm38)	nonsense	probably null
R8834:Dnah14	UTSW	1	181,616,750 (GRCm38)	missense	possibly damaging	0.83
R8913:Dnah14	UTSW	1	181,725,498 (GRCm38)	missense	probably benign	0.01
R8925:Dnah14	UTSW	1	181,680,756 (GRCm38)	missense	probably damaging	1.00
R8927:Dnah14	UTSW	1	181,680,756 (GRCm38)	missense	probably damaging	1.00
R8934:Dnah14	UTSW	1	181,622,723 (GRCm38)	missense	possibly damaging	0.84
R9090:Dnah14	UTSW	1	181,769,760 (GRCm38)	missense	probably benign	0.33
R9169:Dnah14	UTSW	1	181,605,816 (GRCm38)	missense	probably benign	0.06
R9199:Dnah14	UTSW	1	181,651,001 (GRCm38)	missense	possibly damaging	0.50
R9212:Dnah14	UTSW	1	181,801,287 (GRCm38)	missense	possibly damaging	0.95
R9213:Dnah14	UTSW	1	181,616,640 (GRCm38)	critical splice donor site	probably null
R9271:Dnah14	UTSW	1	181,769,760 (GRCm38)	missense	probably benign	0.33
R9282:Dnah14	UTSW	1	181,814,512 (GRCm38)	missense
R9350:Dnah14	UTSW	1	181,734,804 (GRCm38)	missense	possibly damaging	0.79
R9358:Dnah14	UTSW	1	181,709,033 (GRCm38)	missense	probably benign	0.01
R9436:Dnah14	UTSW	1	181,680,783 (GRCm38)	missense	probably damaging	1.00
R9484:Dnah14	UTSW	1	181,797,746 (GRCm38)	missense	probably benign	0.01
R9484:Dnah14	UTSW	1	181,690,208 (GRCm38)	missense	probably benign	0.45
R9486:Dnah14	UTSW	1	181,680,929 (GRCm38)	missense	possibly damaging	0.68
R9546:Dnah14	UTSW	1	181,593,427 (GRCm38)	critical splice acceptor site	probably null
R9547:Dnah14	UTSW	1	181,593,427 (GRCm38)	critical splice acceptor site	probably null
R9578:Dnah14	UTSW	1	181,674,442 (GRCm38)	missense	probably benign	0.16
R9654:Dnah14	UTSW	1	181,766,339 (GRCm38)	missense	probably benign	0.01
R9681:Dnah14	UTSW	1	181,734,849 (GRCm38)	missense	possibly damaging	0.91
R9683:Dnah14	UTSW	1	181,598,944 (GRCm38)	missense	probably benign	0.01
R9687:Dnah14	UTSW	1	181,598,413 (GRCm38)	missense	probably benign	0.01
R9718:Dnah14	UTSW	1	181,622,979 (GRCm38)	missense	probably benign	0.08
R9751:Dnah14	UTSW	1	181,792,045 (GRCm38)	missense	probably damaging	1.00
R9757:Dnah14	UTSW	1	181,685,784 (GRCm38)	missense	probably benign	0.03
RF007:Dnah14	UTSW	1	181,685,809 (GRCm38)	missense	probably benign	0.00
RF012:Dnah14	UTSW	1	181,627,898 (GRCm38)	missense	probably damaging	0.99
Z1176:Dnah14	UTSW	1	181,757,351 (GRCm38)	missense	possibly damaging	0.83
Z1177:Dnah14	UTSW	1	181,690,320 (GRCm38)	missense	probably benign	0.03
Z1177:Dnah14	UTSW	1	181,766,304 (GRCm38)	missense	probably damaging	1.00
Z1177:Dnah14	UTSW	1	181,763,334 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTTCTGATCCTGGTAAGC -3'
(R):5'- AGTTCAAGCTTTGCTCTCAGAC -3'

Sequencing Primer
(F):5'- TCAGAGGTTCCTGAGACACTATC -3'
(R):5'- TTAGAGACATACCTGAGGACATTC -3'

Posted On

2019-05-15