Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:Dnah14'

658574

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

Dnahc14, Gm980, LOC381311, A230079K17Rik

MMRRC Submission

067947-MU

Accession Numbers

Essential gene?

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

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 181653638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1564 (I1564N)

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: I1564N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,690,609 (GRCm38)	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,646,706 (GRCm38)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,685,346 (GRCm38)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,642,083 (GRCm38)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,604,160 (GRCm38)	V191A	probably benign	Het
Ankrd52	T	C	10: 128,389,490 (GRCm38)	L911P	probably damaging	Het
C5ar1	A	G	7: 16,248,151 (GRCm38)	S315P	probably damaging	Het
Cubn	A	G	2: 13,308,520 (GRCm38)		probably null	Het
Dlec1	T	C	9: 119,112,209 (GRCm38)	S276P	probably benign	Het
Dsg2	G	A	18: 20,579,451 (GRCm38)	G171R	probably damaging	Het
Dusp13	C	A	14: 21,743,470 (GRCm38)	G208*	probably null	Het
Ebf3	A	C	7: 137,201,124 (GRCm38)		probably null	Het
Fbn2	A	T	18: 58,038,198 (GRCm38)		probably null	Het
Fbxo27	A	G	7: 28,693,342 (GRCm38)	D16G	probably benign	Het
G6pc3	A	G	11: 102,193,108 (GRCm38)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,472,306 (GRCm38)	V995I	probably null	Het
Hmcn2	C	A	2: 31,354,714 (GRCm38)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,105,339 (GRCm38)	L62P	probably damaging	Het
Ints7	T	C	1: 191,582,491 (GRCm38)	S63P	probably damaging	Het
Mcf2l	C	A	8: 12,880,089 (GRCm38)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,991,363 (GRCm38)	I109S	probably benign	Het
Mier2	G	A	10: 79,542,429 (GRCm38)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,183,734 (GRCm38)		probably null	Het
Nanog	A	T	6: 122,713,516 (GRCm38)	L268F	possibly damaging	Het
Olfr305	A	T	7: 86,364,263 (GRCm38)	C25S	probably benign	Het
Olfr536	T	A	7: 140,504,402 (GRCm38)	D19V	probably benign	Het
Otud4	T	A	8: 79,659,267 (GRCm38)	N256K	probably damaging	Het
P2rx1	A	T	11: 73,008,953 (GRCm38)	D128V	probably benign	Het
Pappa	G	A	4: 65,335,764 (GRCm38)	V1552I	probably benign	Het
Pax8	A	T	2: 24,443,022 (GRCm38)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,174,755 (GRCm38)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,170 (GRCm38)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,814,840 (GRCm38)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,523,180 (GRCm38)	N217K	probably benign	Het
Slc2a13	T	A	15: 91,572,902 (GRCm38)	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,549,862 (GRCm38)	M9T	probably benign	Het
Sord	G	A	2: 122,256,942 (GRCm38)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,754,284 (GRCm38)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,921,420 (GRCm38)	D956E	probably benign	Het
Tmem251	T	A	12: 102,744,172 (GRCm38)		probably null	Het
Topbp1	T	A	9: 103,308,977 (GRCm38)		probably null	Het
Tst	T	C	15: 78,405,253 (GRCm38)	E194G	probably damaging	Het
Ttk	T	A	9: 83,857,327 (GRCm38)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,502,554 (GRCm38)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,240,855 (GRCm38)	A500T	probably benign	Het
Utrn	A	T	10: 12,670,186 (GRCm38)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,741,656 (GRCm38)	Q656L	probably damaging	Het
Wdr7	A	G	18: 63,987,160 (GRCm38)	N1424S	probably benign	Het
Xkr9	A	G	1: 13,701,379 (GRCm38)	D373G	probably benign	Het
Zfp984	T	A	4: 147,756,211 (GRCm38)	Y61F	probably benign	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
R7115:Dnah14	UTSW	1	181,720,145 (GRCm38)	missense	probably damaging	1.00
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
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	181,763,334 (GRCm38)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCCAGAGTCAAGCACCTACG -3'
(R):5'- GAGGAAACATATATTTTCCTCCCTCC -3'

Sequencing Primer
(F):5'- GCACCTACGAAACTTTCTATGGAG -3'
(R):5'- CTCCCTCCTTCTAGTGGAAAC -3'

Posted On

2021-01-18