Mutagenetix > Incidental Mutation

Incidental Mutation 'R6957:Dnah14'

541487

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 #

R6957 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 181785175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 3846 (A3846P)

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: A3846P

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	A	13: 58,381,961	C279F	probably damaging	Het
2310009B15Rik	A	G	1: 138,852,119	S132P	probably damaging	Het
4932415D10Rik	A	T	10: 82,293,786	I1130K	probably benign	Het
Abcb5	A	G	12: 118,907,535	F710L	probably damaging	Het
Acsm4	T	G	7: 119,711,399	V503G	probably damaging	Het
Adam26a	T	A	8: 43,568,903	M517L	probably benign	Het
Adcy10	C	A	1: 165,564,285	L1345I	probably damaging	Het
Adgrv1	T	C	13: 81,567,490	I860V	probably benign	Het
Alcam	T	C	16: 52,276,894	D333G	probably damaging	Het
Amt	C	A	9: 108,299,833	F213L	possibly damaging	Het
Ascc3	A	G	10: 50,728,182	T1333A	probably damaging	Het
Asxl3	C	A	18: 22,522,091	L1053I	probably damaging	Het
Atxn10	T	C	15: 85,336,498	S12P	probably damaging	Het
AU021092	T	C	16: 5,212,153	I333V	probably benign	Het
Birc6	A	G	17: 74,579,491	I577V	probably benign	Het
Cadm2	A	T	16: 66,812,838	F132I	probably benign	Het
Casp3	T	A	8: 46,634,273	V85D	probably damaging	Het
Ccdc85a	A	T	11: 28,392,944		probably benign	Het
Cd22	T	C	7: 30,867,574	R760G	possibly damaging	Het
Cela3a	A	T	4: 137,408,130	W41R	probably damaging	Het
Cep164	A	G	9: 45,772,280		probably null	Het
Cntnap5b	A	G	1: 100,274,472	E348G	probably benign	Het
Ddx20	C	A	3: 105,684,310	K181N	probably benign	Het
Ern1	A	C	11: 106,403,539	I813S	probably damaging	Het
Fam181a	G	A	12: 103,316,514	G226D	probably damaging	Het
Fam186a	T	A	15: 99,946,476	D629V	unknown	Het
Fam84b	T	C	15: 60,823,085	T271A	probably benign	Het
Gipr	T	A	7: 19,164,604	T26S	probably benign	Het
Gm3159	A	G	14: 4,398,530	R74G	possibly damaging	Het
Gm8251	C	T	1: 44,057,207	C1577Y	probably benign	Het
Greb1l	G	A	18: 10,558,786	V1814I	probably benign	Het
Hacd1	A	T	2: 14,044,853	V98E	probably damaging	Het
Iars	T	G	13: 49,722,161	F775V	probably damaging	Het
Il12rb2	G	A	6: 67,292,652	L726F	possibly damaging	Het
Itih4	T	C	14: 30,892,603	V474A	probably damaging	Het
Kmt2a	A	C	9: 44,820,022		probably benign	Het
Ktn1	T	A	14: 47,667,353	L196*	probably null	Het
Lipo4	A	G	19: 33,499,367	V327A	probably benign	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrp4	C	A	2: 91,487,042	T837K	probably damaging	Het
Mad1l1	G	T	5: 140,065,817	F664L	probably damaging	Het
Mecr	A	G	4: 131,861,861	T247A	probably benign	Het
Msi1	G	A	5: 115,445,424	A228T	probably benign	Het
Mup5	T	A	4: 61,833,036	N125I	probably damaging	Het
Mybl2	C	T	2: 163,072,808	S282F	possibly damaging	Het
Myom2	G	A	8: 15,117,741	A1109T	probably null	Het
Nalcn	T	C	14: 123,507,554	D354G	probably damaging	Het
Nckap1l	T	C	15: 103,491,511	V1040A	possibly damaging	Het
Nlrp12	T	A	7: 3,222,486	D1051V	probably damaging	Het
Nudt7	A	G	8: 114,133,645	K16R	probably benign	Het
Olfr1270	G	T	2: 90,149,150	Y285*	probably null	Het
Olfr947-ps1	A	G	9: 39,289,281	V203A	unknown	Het
Paqr3	A	T	5: 97,108,251	I88K	possibly damaging	Het
Parp9	A	G	16: 35,948,346	M299V	probably benign	Het
Pde4dip	A	T	3: 97,824,333		probably null	Het
Pex13	T	G	11: 23,655,628	M201L	probably benign	Het
Pfas	C	A	11: 68,993,883	V498L	probably benign	Het
Phka2	G	A	X: 160,533,048	V230I	probably damaging	Het
Plec	T	A	15: 76,186,214	D932V	probably damaging	Het
Qsox2	C	T	2: 26,217,642	A445T	probably benign	Het
Rapgef1	C	A	2: 29,733,698	Q820K	possibly damaging	Het
Samd13	A	G	3: 146,662,669		probably null	Het
Samm50	G	T	15: 84,198,649	D104Y	probably damaging	Het
Sbk3	A	T	7: 4,967,523	F282L	probably benign	Het
Sfmbt1	C	T	14: 30,787,589	H342Y	probably benign	Het
Sgo2b	CCATCATCATCATCATCATCAT	CCATCATCATCATCATCAT	8: 63,931,455		probably benign	Het
Slc12a2	T	A	18: 57,910,272	L596*	probably null	Het
St8sia3	T	C	18: 64,271,782	S377P	probably benign	Het
Stmnd1	T	G	13: 46,273,899	S28A	probably benign	Het
Syne3	A	T	12: 104,954,302	L458Q	probably damaging	Het
Synm	C	T	7: 67,736,100	V163I	probably benign	Het
Tbc1d23	A	G	16: 57,208,323	C161R	probably damaging	Het
Tnfrsf4	G	A	4: 156,016,168	V215I	probably benign	Het
Vars2	T	G	17: 35,667,075	K67Q	probably benign	Het
Vmn2r13	A	T	5: 109,156,887	Y559*	probably null	Het
Wdpcp	T	C	11: 21,721,154	I465T	possibly damaging	Het
Zwilch	A	C	9: 64,162,562		probably null	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
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'- TTAAGTGCGCTTCATGTCGC -3'
(R):5'- CCTGAGCAGGCATTTAAAAGG -3'

Sequencing Primer
(F):5'- CGCTCTCCATATTGTTGTGCAGG -3'
(R):5'- CTCTAGTGGCTCAGTACATGGC -3'

Posted On

2018-11-28