Mutagenetix > Incidental Mutation

Incidental Mutation 'R7363:Dnah14'

590967

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

Dnahc14, Gm980, LOC381311, A230079K17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7363 (G1)

Quality Score

72.0074

Status

Validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

splice site (193 bp from exon)

DNA Base Change (assembly)

A to G at 181690524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146843 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000208001

Coding Region Coverage

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

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,770	N190I	probably damaging	Het
Ablim1	G	T	19: 57,215,741	L73I	probably benign	Het
Adamts4	A	T	1: 171,259,039	Q800L	probably benign	Het
Atm	A	T	9: 53,465,298	I2014N	probably damaging	Het
Atp2a1	A	G	7: 126,462,889	C12R	possibly damaging	Het
B3galnt1	A	T	3: 69,575,824	Y35N	probably damaging	Het
Bnc2	A	T	4: 84,292,071	M687K	probably benign	Het
Cacna2d4	A	G	6: 119,343,978	Y917C	probably damaging	Het
Ces2e	A	G	8: 104,933,000		probably null	Het
Cldn23	A	G	8: 35,825,505		probably null	Het
Cntn5	G	T	9: 10,172,016	S54R	probably benign	Het
Dido1	G	T	2: 180,662,517	S1198*	probably null	Het
Dnah12	A	G	14: 26,724,611	M776V	probably benign	Het
Dnttip1	GGGCCGGC	GGGC	2: 164,757,685		probably null	Het
Dusp28	A	T	1: 92,907,139	T29S	probably benign	Het
Erich1	A	T	8: 14,033,688	S127R	probably benign	Het
Fam151a	T	A	4: 106,745,484	L200H	probably damaging	Het
Fam49a	T	A	12: 12,340,664		probably null	Het
Fam71a	A	T	1: 191,163,713	S244R	probably damaging	Het
Fbxw8	A	T	5: 118,124,992	H207Q	probably damaging	Het
Fgf22	A	G	10: 79,756,842	E116G	probably benign	Het
Gapvd1	C	A	2: 34,712,195	V647F	probably benign	Het
Gja4	T	A	4: 127,312,694	Y92F	probably damaging	Het
Gtf3c2	G	A	5: 31,170,256	R288W	probably damaging	Het
Hira	G	T	16: 18,897,782	R99L	possibly damaging	Het
Ighv16-1	C	T	12: 114,069,101	G27D	probably damaging	Het
Igkv1-133	C	T	6: 67,725,411	P38S	probably benign	Het
Igkv4-59	T	C	6: 69,438,412	Y53C	probably damaging	Het
Il23a	T	C	10: 128,297,151	E113G	probably damaging	Het
Kcnip1	A	G	11: 33,634,589	V188A	probably benign	Het
L3mbtl3	T	C	10: 26,340,952	K155E	unknown	Het
Lancl2	T	G	6: 57,722,679	C169G	probably benign	Het
Lrrc26	A	G	2: 25,290,569	D194G	probably benign	Het
Lrrfip1	C	T	1: 91,123,120	A545V	probably benign	Het
Lrtm1	T	C	14: 29,021,893	F106S	probably damaging	Het
Lypd2	A	T	15: 74,732,999	M49K	probably damaging	Het
Mbd1	A	C	18: 74,273,286	D63A	probably damaging	Het
Mdn1	T	C	4: 32,691,729	F990L	probably damaging	Het
Mtfr1l	T	C	4: 134,529,266	E196G	probably benign	Het
Myh10	A	G	11: 68,815,048	T2007A	probably benign	Het
Nckap1	G	A	2: 80,540,168	R393C	probably damaging	Het
Nup205	C	T	6: 35,232,573	T1605M	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr393	T	C	11: 73,847,915	D70G	probably damaging	Het
Pgap2	T	A	7: 102,226,260		probably null	Het
Pitrm1	A	G	13: 6,569,351	S741G	probably benign	Het
Plcd4	A	T	1: 74,551,072	S155C	probably null	Het
Poc5	A	T	13: 96,404,417	T365S	possibly damaging	Het
Ppp2r5c	G	A	12: 110,522,607	A71T	probably benign	Het
Prdm6	T	A	18: 53,465,127	I187N	possibly damaging	Het
Pxk	A	G	14: 8,152,118	Q478R	probably benign	Het
Rgl1	T	C	1: 152,519,163	Y718C	probably damaging	Het
Ring1	G	T	17: 34,024,362	T2K	possibly damaging	Het
Sdk1	A	G	5: 142,188,142	S2022G	probably benign	Het
Sec61a1	C	A	6: 88,515,551	V32F	probably benign	Het
Sv2b	G	A	7: 75,147,654	P331S	probably damaging	Het
Syne1	T	C	10: 5,140,970	S795G	possibly damaging	Het
Tmem2	T	C	19: 21,856,211	F1338L	probably benign	Het
Tmod2	T	C	9: 75,576,741	E309G	probably damaging	Het
Tpp2	T	G	1: 43,985,422	S987A	probably benign	Het
Trim75	G	C	8: 64,982,887	H304D	probably damaging	Het
Trp53bp2	G	T	1: 182,444,666	D447Y	probably damaging	Het
Ube3a	A	G	7: 59,287,003	K697E	probably benign	Het
Vmn2r13	T	A	5: 109,192,043	H22L	probably benign	Het
Vmn2r4	G	A	3: 64,407,011	S183F	probably damaging	Het
Vwa8	T	C	14: 79,018,707	Y721H	probably benign	Het
Wbp1l	C	T	19: 46,654,130	P190L	possibly damaging	Het
Zcchc4	A	T	5: 52,785,168	Q105L	possibly damaging	Het
Zfp236	T	C	18: 82,621,331	R1264G	probably damaging	Het
Zfpm2	T	A	15: 40,753,017	N54K	probably damaging	Het
Zkscan3	C	T	13: 21,387,822	G547S	probably damaging	Het

Other mutations in Dnah14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Dnah14	APN	1	181752046	missense	probably benign	0.17
IGL01764:Dnah14	APN	1	181744777	missense	probably benign	0.00
IGL03218:Dnah14	APN	1	181755269	missense	probably benign	0.02
IGL03290:Dnah14	APN	1	181763978	splice site	probably benign
IGL03384:Dnah14	APN	1	181745949	missense	probably benign	0.03
R0009:Dnah14	UTSW	1	181769407	splice site	probably benign
R0125:Dnah14	UTSW	1	181752063	missense	probably damaging	0.99
R0579:Dnah14	UTSW	1	181744747	missense	possibly damaging	0.72
R0973:Dnah14	UTSW	1	181752145	missense	probably damaging	1.00
R0973:Dnah14	UTSW	1	181752145	missense	probably damaging	1.00
R0974:Dnah14	UTSW	1	181752145	missense	probably damaging	1.00
R1609:Dnah14	UTSW	1	181750177	missense	probably damaging	0.97
R1860:Dnah14	UTSW	1	181763960	missense	probably damaging	1.00
R2050:Dnah14	UTSW	1	181752562	missense	probably damaging	1.00
R2974:Dnah14	UTSW	1	181755241	critical splice acceptor site	probably null
R4715:Dnah14	UTSW	1	181757223	missense	probably damaging	1.00
R5076:Dnah14	UTSW	1	181757234	missense	probably benign	0.01
R5424:Dnah14	UTSW	1	181763310	missense	possibly damaging	0.95
R5808:Dnah14	UTSW	1	181741159	missense	possibly damaging	0.72
R5997:Dnah14	UTSW	1	181770105	missense	probably benign	0.00
R6052:Dnah14	UTSW	1	181666487	missense	possibly damaging	0.50
R6061:Dnah14	UTSW	1	181709051	missense	probably damaging	1.00
R6089:Dnah14	UTSW	1	181750154	missense	probably damaging	1.00
R6092:Dnah14	UTSW	1	181621833	missense	probably benign	0.13
R6145:Dnah14	UTSW	1	181666417	missense	probably benign	0.00
R6163:Dnah14	UTSW	1	181666361	missense	probably benign	0.33
R6246:Dnah14	UTSW	1	181680888	missense	probably benign	0.00
R6302:Dnah14	UTSW	1	181601206	missense	possibly damaging	0.96
R6306:Dnah14	UTSW	1	181585024	frame shift	probably null
R6326:Dnah14	UTSW	1	181783556	missense	probably damaging	1.00
R6348:Dnah14	UTSW	1	181626720	missense	possibly damaging	0.83
R6367:Dnah14	UTSW	1	181755386	splice site	probably null
R6376:Dnah14	UTSW	1	181605894	missense	possibly damaging	0.79
R6389:Dnah14	UTSW	1	181651202	critical splice donor site	probably null
R6433:Dnah14	UTSW	1	181651657	missense	probably damaging	0.99
R6454:Dnah14	UTSW	1	181783705	missense	probably damaging	1.00
R6476:Dnah14	UTSW	1	181744768	missense	probably benign	0.26
R6523:Dnah14	UTSW	1	181643621	missense	probably benign	0.00
R6529:Dnah14	UTSW	1	181666469	missense	probably damaging	0.98
R6538:Dnah14	UTSW	1	181584985	missense	unknown
R6546:Dnah14	UTSW	1	181738987	missense	probably damaging	1.00
R6752:Dnah14	UTSW	1	181593452	missense	probably benign	0.07
R6762:Dnah14	UTSW	1	181757259	missense	probably damaging	1.00
R6786:Dnah14	UTSW	1	181641405	missense	probably benign	0.21
R6849:Dnah14	UTSW	1	181808945	missense	probably benign	0.00
R6877:Dnah14	UTSW	1	181628432	missense	possibly damaging	0.82
R6912:Dnah14	UTSW	1	181750183	missense	possibly damaging	0.83
R6919:Dnah14	UTSW	1	181585066	missense	probably benign	0.04
R6924:Dnah14	UTSW	1	181627952	missense	probably benign	0.04
R6957:Dnah14	UTSW	1	181785175	missense	possibly damaging	0.92
R6980:Dnah14	UTSW	1	181648230	missense	probably benign	0.00
R7018:Dnah14	UTSW	1	181626944	missense	possibly damaging	0.55
R7046:Dnah14	UTSW	1	181623003	missense	probably benign	0.01
R7058:Dnah14	UTSW	1	181698049	missense	probably benign	0.00
R7068:Dnah14	UTSW	1	181769790	missense	probably benign	0.35
R7115:Dnah14	UTSW	1	181720145	missense	probably damaging	1.00
R7130:Dnah14	UTSW	1	181745958	nonsense	probably null
R7165:Dnah14	UTSW	1	181704535	missense	probably benign	0.00
R7169:Dnah14	UTSW	1	181702365	missense	probably benign	0.00
R7184:Dnah14	UTSW	1	181704529	nonsense	probably null
R7232:Dnah14	UTSW	1	181757363	missense	probably damaging	1.00
R7260:Dnah14	UTSW	1	181706744	missense	probably damaging	0.99
R7276:Dnah14	UTSW	1	181685807	missense	probably benign	0.41
R7290:Dnah14	UTSW	1	181628174	missense	probably benign	0.20
R7314:Dnah14	UTSW	1	181785254	splice site	probably null
R7326:Dnah14	UTSW	1	181598403	missense	probably benign	0.02
R7336:Dnah14	UTSW	1	181797734	missense	probably damaging	0.96
R7371:Dnah14	UTSW	1	181626885	missense	probably benign	0.05
R7376:Dnah14	UTSW	1	181763402	missense	probably benign	0.03
R7418:Dnah14	UTSW	1	181616742	missense	possibly damaging	0.92
R7473:Dnah14	UTSW	1	181752139	missense	probably damaging	0.99
R7514:Dnah14	UTSW	1	181628067	missense	probably damaging	0.96
R7555:Dnah14	UTSW	1	181770054	missense	probably benign	0.26
R7641:Dnah14	UTSW	1	181707533	missense	probably benign	0.01
R7663:Dnah14	UTSW	1	181752155	splice site	probably null
R7674:Dnah14	UTSW	1	181707533	missense	probably benign	0.01
R7680:Dnah14	UTSW	1	181685800	missense	probably benign	0.15
R7709:Dnah14	UTSW	1	181702484	critical splice donor site	probably null
R7842:Dnah14	UTSW	1	181627898	missense	probably damaging	0.99
R7861:Dnah14	UTSW	1	181616759	missense	probably damaging	1.00
R7988:Dnah14	UTSW	1	181783574	missense	probably damaging	0.97
R8016:Dnah14	UTSW	1	181648311	missense	probably benign	0.05
R8042:Dnah14	UTSW	1	181643631	critical splice donor site	probably null
R8071:Dnah14	UTSW	1	181615894	missense	possibly damaging	0.84
R8086:Dnah14	UTSW	1	181766232	missense	probably damaging	1.00
R8095:Dnah14	UTSW	1	181806032	nonsense	probably null
R8139:Dnah14	UTSW	1	181755288	missense	probably damaging	1.00
R8176:Dnah14	UTSW	1	181657033	missense	probably damaging	0.96
R8193:Dnah14	UTSW	1	181688205	missense	probably damaging	1.00
R8197:Dnah14	UTSW	1	181690101	missense	possibly damaging	0.94
R8209:Dnah14	UTSW	1	181795545	missense	possibly damaging	0.69
R8226:Dnah14	UTSW	1	181795545	missense	possibly damaging	0.69
R8251:Dnah14	UTSW	1	181664865	missense	probably damaging	1.00
R8264:Dnah14	UTSW	1	181744792	missense	probably damaging	0.99
R8284:Dnah14	UTSW	1	181773811	missense	probably benign	0.03
R8289:Dnah14	UTSW	1	181716215	nonsense	probably null
R8323:Dnah14	UTSW	1	181704544	missense	probably benign	0.01
R8442:Dnah14	UTSW	1	181741284	missense	probably damaging	0.97
R8458:Dnah14	UTSW	1	181806012	missense
R8507:Dnah14	UTSW	1	181641414	missense	probably benign	0.02
R8509:Dnah14	UTSW	1	181814655	missense
R8520:Dnah14	UTSW	1	181653638	missense	probably damaging	1.00
R8530:Dnah14	UTSW	1	181664946	missense	probably damaging	1.00
R8703:Dnah14	UTSW	1	181666011	nonsense	probably null
R8710:Dnah14	UTSW	1	181690311	missense	probably benign	0.04
R8752:Dnah14	UTSW	1	181628016	missense	probably benign	0.00
R8792:Dnah14	UTSW	1	181814624	missense
R8797:Dnah14	UTSW	1	181637847	missense	probably benign	0.19
R8821:Dnah14	UTSW	1	181792004	nonsense	probably null
R8834:Dnah14	UTSW	1	181616750	missense	possibly damaging	0.83
R8913:Dnah14	UTSW	1	181725498	missense	probably benign	0.01
R8925:Dnah14	UTSW	1	181680756	missense	probably damaging	1.00
R8927:Dnah14	UTSW	1	181680756	missense	probably damaging	1.00
R8934:Dnah14	UTSW	1	181622723	missense	possibly damaging	0.84
R9090:Dnah14	UTSW	1	181769760	missense	probably benign	0.33
R9169:Dnah14	UTSW	1	181605816	missense	probably benign	0.06
R9199:Dnah14	UTSW	1	181651001	missense	possibly damaging	0.50
R9212:Dnah14	UTSW	1	181801287	missense	possibly damaging	0.95
R9213:Dnah14	UTSW	1	181616640	critical splice donor site	probably null
R9271:Dnah14	UTSW	1	181769760	missense	probably benign	0.33
R9282:Dnah14	UTSW	1	181814512	missense
R9350:Dnah14	UTSW	1	181734804	missense	possibly damaging	0.79
R9358:Dnah14	UTSW	1	181709033	missense	probably benign	0.01
R9436:Dnah14	UTSW	1	181680783	missense	probably damaging	1.00
R9484:Dnah14	UTSW	1	181690208	missense	probably benign	0.45
R9484:Dnah14	UTSW	1	181797746	missense	probably benign	0.01
R9486:Dnah14	UTSW	1	181680929	missense	possibly damaging	0.68
R9546:Dnah14	UTSW	1	181593427	critical splice acceptor site	probably null
R9547:Dnah14	UTSW	1	181593427	critical splice acceptor site	probably null
R9578:Dnah14	UTSW	1	181674442	missense	probably benign	0.16
R9654:Dnah14	UTSW	1	181766339	missense	probably benign	0.01
R9681:Dnah14	UTSW	1	181734849	missense	possibly damaging	0.91
R9683:Dnah14	UTSW	1	181598944	missense	probably benign	0.01
R9687:Dnah14	UTSW	1	181598413	missense	probably benign	0.01
R9718:Dnah14	UTSW	1	181622979	missense	probably benign	0.08
R9751:Dnah14	UTSW	1	181792045	missense	probably damaging	1.00
R9757:Dnah14	UTSW	1	181685784	missense	probably benign	0.03
RF007:Dnah14	UTSW	1	181685809	missense	probably benign	0.00
RF012:Dnah14	UTSW	1	181627898	missense	probably damaging	0.99
Z1176:Dnah14	UTSW	1	181757351	missense	possibly damaging	0.83
Z1177:Dnah14	UTSW	1	181690320	missense	probably benign	0.03
Z1177:Dnah14	UTSW	1	181763334	missense	probably damaging	1.00
Z1177:Dnah14	UTSW	1	181766304	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGTCTCACTGATGAAATATGTC -3'
(R):5'- TGGGAAATCATGACCCACAGG -3'

Sequencing Primer
(F):5'- GAAATATGTCTTCACTCTTCGGTGGC -3'
(R):5'- AACAGAACTGCCACAGGATCTGG -3'

Posted On

2019-10-25