Mutagenetix > Incidental Mutation

Incidental Mutation 'R7260:Dnah14'

564513

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: 0.095) question?

Stock #

R7260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181706744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 2320 (R2320W)

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: R2320W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

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

Validation Efficiency

98% (78/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,973,886	S293P	probably benign	Het
Actn2	T	C	13: 12,276,490	N676S	probably benign	Het
Amfr	C	T	8: 93,976,148	M463I	possibly damaging	Het
Ankdd1a	G	T	9: 65,504,552	A325D	probably damaging	Het
Apba2	A	G	7: 64,739,745	D463G	probably damaging	Het
Arid5b	A	G	10: 68,097,807	V755A	probably damaging	Het
Boc	A	T	16: 44,490,170	F796I		Het
Ccnt1	G	A	15: 98,565,124	Q56*	probably null	Het
Cd248	T	A	19: 5,069,355	Y410*	probably null	Het
Chd9	T	A	8: 90,994,543	N986K	unknown	Het
Col6a6	T	C	9: 105,783,969	T314A	probably benign	Het
Cpped1	A	G	16: 11,828,463	F142L	possibly damaging	Het
Csmd1	C	T	8: 16,000,574	A2221T	probably damaging	Het
Cyp2c69	C	A	19: 39,842,900	V490L	probably benign	Het
Dcst2	T	C	3: 89,366,286	F157S	probably damaging	Het
Ddx54	G	T	5: 120,626,920	R788L	probably benign	Het
Dnah1	T	C	14: 31,269,386	Y3145C	probably damaging	Het
E130309D02Rik	A	G	5: 143,311,839	V151A	probably benign	Het
Emilin2	T	C	17: 71,274,790	T314A	probably benign	Het
Eml2	A	G	7: 19,200,590	S405G	probably benign	Het
Ephb2	A	G	4: 136,771,574	F65L	probably damaging	Het
Fam49b	A	T	15: 63,957,589	F23L	possibly damaging	Het
Fbn2	T	C	18: 58,066,116	D1360G	probably benign	Het
Fbxo22	A	G	9: 55,218,470	T206A	probably benign	Het
Filip1l	A	G	16: 57,570,924	E625G	probably damaging	Het
Gen1	A	C	12: 11,256,848	M172R	probably damaging	Het
Gk5	A	G	9: 96,119,610	K54E	probably benign	Het
Glis3	T	C	19: 28,531,402	E394G	probably benign	Het
Gm16486	T	C	8: 70,708,748	Y197H	probably benign	Het
Helq	T	A	5: 100,791,927	E373D	probably damaging	Het
Ighv1-74	A	G	12: 115,802,752	F83L	probably benign	Het
Kdm4d	T	C	9: 14,463,158	D468G	probably benign	Het
Kif20b	A	G	19: 34,950,210	I957M	probably damaging	Het
Ldhal6b	A	G	17: 5,418,260	F133S	possibly damaging	Het
Loxhd1	T	C	18: 77,332,642	Y321H	possibly damaging	Het
Ltbp1	A	T	17: 75,066,144	M261L	probably benign	Het
Mical2	A	T	7: 112,319,794	Q430L	probably benign	Het
Mroh4	A	T	15: 74,608,129	N885K	possibly damaging	Het
Ms4a7	A	G	19: 11,322,346	Y231H	probably damaging	Het
Msh2	G	T	17: 87,717,619	V642F	probably damaging	Het
Muc5b	G	T	7: 141,842,648	A166S	unknown	Het
Myo18b	T	C	5: 112,775,288	I1868V	probably benign	Het
Nfatc3	T	C	8: 106,108,946	S975P	probably benign	Het
Oacyl	T	C	18: 65,698,367	L25P	probably damaging	Het
Olfr1138	T	C	2: 87,738,508		probably null	Het
Olfr1145	A	G	2: 87,810,387	N189S	probably damaging	Het
Olfr1463	T	C	19: 13,235,024	F258S	probably damaging	Het
Olfr151	T	A	9: 37,730,753	I77F	probably damaging	Het
Olfr816	T	A	10: 129,912,287		probably benign	Het
Patj	A	G	4: 98,416,733	I275V	possibly damaging	Het
Pdcd11	G	A	19: 47,129,234	R1674Q	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phkb	T	A	8: 85,878,130	Y55N	probably benign	Het
Pias4	A	G	10: 81,157,468	V207A	possibly damaging	Het
Plxna4	C	A	6: 32,239,520	R540L	possibly damaging	Het
Psapl1	G	A	5: 36,205,212	V383M	probably benign	Het
Rars	C	A	11: 35,834,454	A10S	probably benign	Het
Rhobtb1	A	T	10: 69,270,780	K454*	probably null	Het
Rmnd1	A	T	10: 4,414,803		probably null	Het
Rnf213	A	G	11: 119,452,575	I3589V		Het
Rngtt	T	C	4: 33,356,176	S338P	possibly damaging	Het
Sh3bgr	A	G	16: 96,224,481	E189G	unknown	Het
Slc30a3	G	A	5: 31,088,346	T281I	probably damaging	Het
Smok3c	T	A	5: 138,065,623	D457E	possibly damaging	Het
Stard9	C	A	2: 120,706,938	Q4274K	possibly damaging	Het
Syne2	G	T	12: 75,945,079	L1938F	probably damaging	Het
Tmem70	C	A	1: 16,665,366	T20K	possibly damaging	Het
Tnrc6a	A	G	7: 123,186,590	E1502G	probably benign	Het
Tpp1	A	T	7: 105,747,497	S438T	probably benign	Het
Tubb2a	T	A	13: 34,075,414	Q131L	probably damaging	Het
Ube2v1	A	G	2: 167,629,194	S26P	probably benign	Het
Unc13a	G	T	8: 71,660,585	S207R	possibly damaging	Het
Usp35	T	G	7: 97,320,079	D362A	probably damaging	Het
Utp20	A	G	10: 88,751,472	I2487T	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r117	T	A	17: 23,475,385	H496L	probably benign	Het
Vmn2r92	C	T	17: 18,166,876	A159V	probably damaging	Het
Wdr63	T	A	3: 146,046,540	M794L	probably benign	Het
Wiz	T	C	17: 32,359,111	K467E	probably damaging	Het
Zfp534	T	C	4: 147,675,004	T403A	probably benign	Het
Zswim5	T	C	4: 116,962,646	L416P	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
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
R7363:Dnah14	UTSW	1	181690524	splice site	probably null
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'- GATGTTAGCAGCTAGATTCATTCC -3'
(R):5'- CTTCCCACAGACTGTGTTTGAAAC -3'

Sequencing Primer
(F):5'- ACAGACTTTTACAAGGGGCTTG -3'
(R):5'- GACTGTGTTTGAAACCAACAATTCC -3'

Posted On

2019-06-26