Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Dnah14'

514950

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 #

R6376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 181605894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 379 (P379S)

Ref Sequence

ENSEMBL: ENSMUSP00000146843 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208001
AA Change: P379S

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,428,156	E106D	probably damaging	Het
4933425L06Rik	T	C	13: 105,119,965	I514T	possibly damaging	Het
A830018L16Rik	A	T	1: 11,798,494	N333Y	probably damaging	Het
Abca4	T	A	3: 122,123,660	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,856,998	I495F	probably damaging	Het
Acsl3	T	C	1: 78,696,465	S373P	possibly damaging	Het
Adam7	A	G	14: 68,505,097	I689T	possibly damaging	Het
Akap11	G	A	14: 78,514,896	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,888,465	K309R	possibly damaging	Het
Apaf1	A	T	10: 91,023,811	I824N	probably damaging	Het
Apc2	T	A	10: 80,312,654	C1152S	probably damaging	Het
Arhgap17	C	A	7: 123,300,504	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,954,970	I19V	unknown	Het
Arnt	C	A	3: 95,490,625	P573H	probably damaging	Het
Arvcf	G	A	16: 18,405,132	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,645,728	W99*	probably null	Het
Atp13a5	T	A	16: 29,237,252	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,715,059	T1103A	probably damaging	Het
B4galnt4	C	A	7: 141,067,422	Q362K	possibly damaging	Het
Cd163l1	G	A	7: 140,228,729	G851D	probably damaging	Het
Cd320	T	A	17: 33,847,517	N90K	probably benign	Het
Cep170b	A	T	12: 112,732,068	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,045	Q62L	probably benign	Het
Ctsg	A	T	14: 56,101,653	C49*	probably null	Het
Cul9	T	C	17: 46,508,563	T2000A	probably damaging	Het
Dedd	C	T	1: 171,340,222	P155S	probably benign	Het
Dnah1	A	G	14: 31,275,608	S2598P	probably damaging	Het
Dync2h1	A	T	9: 7,165,703	S519R	probably benign	Het
Eea1	A	G	10: 96,038,798	S1192G	probably benign	Het
Eif5b	T	C	1: 38,045,679	I869T	probably damaging	Het
Elavl4	C	A	4: 110,255,454		probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ets2	G	A	16: 95,718,993	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,469,710	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,728,729	Y144C	probably damaging	Het
Greb1	T	C	12: 16,699,579	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,953,988		probably null	Het
Hoxc12	C	A	15: 102,937,089	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,409,432	L164I	probably damaging	Het
Ina	C	T	19: 47,015,125	A124V	probably benign	Het
Inhbb	T	A	1: 119,417,681	I293F	probably damaging	Het
Itpr3	A	G	17: 27,095,475	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,909,329	V1102I	probably benign	Het
Kalrn	A	T	16: 33,975,991	F1138Y	probably benign	Het
Large2	T	A	2: 92,370,508		probably benign	Het
Lats2	A	G	14: 57,722,509	S177P	probably benign	Het
Lims2	G	A	18: 31,954,462	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,483,443	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,629,046	T6P	probably benign	Het
Lrrk2	T	C	15: 91,742,266	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,821,034	M302K	probably damaging	Het
Mocos	G	A	18: 24,701,485	G860R	possibly damaging	Het
Mylk3	T	A	8: 85,358,942	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,599,511	D6N	probably damaging	Het
Nrp2	A	G	1: 62,719,017	N54S	possibly damaging	Het
Olfr715	A	G	7: 107,128,641	F251L	probably benign	Het
Pacsin1	A	T	17: 27,707,905	T195S	probably benign	Het
Pank4	T	C	4: 154,972,236		probably null	Het
Pdgfra	A	T	5: 75,166,519	M126L	probably benign	Het
Podxl	T	A	6: 31,528,497	T204S	probably benign	Het
Pole	G	A	5: 110,336,374	D2175N	probably damaging	Het
Pramef25	C	T	4: 143,950,697	G104E	probably benign	Het
Prkdc	A	G	16: 15,769,885	K2545E	probably benign	Het
Prodh	T	C	16: 18,079,985	I183V	probably benign	Het
Ptch1	T	C	13: 63,543,608	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,721,253	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,032,394	N164S	probably benign	Het
Samd4	A	T	14: 47,052,962	L175F	probably damaging	Het
Scimp	C	A	11: 70,798,067	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,461,499	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,203,322	R957G	probably benign	Het
Sptlc3	T	A	2: 139,636,772	N550K	probably benign	Het
Srebf1	T	C	11: 60,203,535	N609D	probably null	Het
Styxl1	A	T	5: 135,747,810	L164H	probably benign	Het
Synpo2l	A	T	14: 20,660,634	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,745,030	M19V	probably damaging	Het
Trappc8	G	C	18: 20,837,075	R953G	probably benign	Het
Trav13-1	A	G	14: 53,545,343	N50S	probably benign	Het
Trim12a	T	C	7: 104,306,034	K161E	probably benign	Het
Vipr1	C	A	9: 121,664,574	N230K	probably damaging	Het
Xirp1	A	T	9: 120,018,491	V3E	probably damaging	Het
Zfp768	A	G	7: 127,344,720	F82L	probably benign	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
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
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'- TGAGTCAAAACCGTCTGAAATCAAC -3'
(R):5'- CAGGAACAAAATCTGCTCAGG -3'

Sequencing Primer
(F):5'- TCAACACAACACATTTTAAGCTGC -3'
(R):5'- CTTCACTTCATGGACATCTTAAAGG -3'

Posted On

2018-05-04