Mutagenetix > Incidental Mutation

Incidental Mutation 'R7473:Dnah14'

579240

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: 0.066) question?

Stock #

R7473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181752139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 3079 (H3079R)

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: H3079R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.1723

Coding Region Coverage

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

Validation Efficiency

96% (80/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,267,115	S368P	possibly damaging	Het
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
4933434E20Rik	T	C	3: 90,058,653		probably null	Het
A630095N17Rik	G	A	1: 75,232,031	T15I	unknown	Het
Actr1b	A	G	1: 36,709,819	V12A	probably benign	Het
Add1	A	G	5: 34,619,353	T473A	possibly damaging	Het
Akap11	A	T	14: 78,513,888	V353E		Het
Alcam	G	A	16: 52,452,519		probably benign	Het
Alpi	A	G	1: 87,099,647		probably null	Het
Ap3s2	A	G	7: 79,916,031	F49S	probably damaging	Het
Arpc1a	A	G	5: 145,101,076	K174E	probably benign	Het
Bbox1	A	T	2: 110,265,498	S374T	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Bmp2k	A	G	5: 97,057,012	N402S	probably benign	Het
Bmper	C	A	9: 23,375,630	A284D	probably benign	Het
Bpifb2	A	T	2: 153,881,196	H124L	possibly damaging	Het
Bsn	C	T	9: 108,112,250	R2101Q	probably damaging	Het
Cacng1	T	A	11: 107,716,192	D67V	probably damaging	Het
Catsperg1	A	G	7: 29,195,478	S565P	probably damaging	Het
Cep126	C	T	9: 8,101,778	E252K	probably damaging	Het
Cep55	G	A	19: 38,069,936	E326K	probably damaging	Het
Cfap58	T	A	19: 47,974,625	Y491*	probably null	Het
Cpeb2	T	C	5: 43,277,505	S747P		Het
Cryz	T	A	3: 154,606,520	S85T	probably benign	Het
D2hgdh	T	C	1: 93,838,078	V367A	probably damaging	Het
Dgkh	T	C	14: 78,599,043	N703S	probably benign	Het
Dnah11	T	C	12: 117,903,176	S4077G	probably benign	Het
Dnah2	T	A	11: 69,491,658	T1209S	probably damaging	Het
Dnmt3b	A	G	2: 153,684,450	D804G	probably damaging	Het
Ell2	A	G	13: 75,750,035	E143G	probably damaging	Het
Exoc2	A	G	13: 30,822,630		probably null	Het
Fahd2a	A	T	2: 127,440,456	I131N	probably damaging	Het
Fer1l5	A	G	1: 36,421,608	N1976D	possibly damaging	Het
Flt1	A	G	5: 147,594,595	S853P	probably damaging	Het
Frg2f1	C	T	4: 119,530,793	V170I	probably benign	Het
Gcn1l1	G	A	5: 115,581,804	V373M	probably benign	Het
Gm10696	T	A	3: 94,176,202	K101*	probably null	Het
Gm19965	A	G	1: 116,821,872	T428A	unknown	Het
Gm4792	A	G	10: 94,293,868	I124T	unknown	Het
Grik2	A	T	10: 49,113,522	C804S	probably benign	Het
Heatr6	T	A	11: 83,781,391	I1075N	probably damaging	Het
Hunk	G	A	16: 90,453,700	A211T	probably damaging	Het
Ighe	T	C	12: 113,271,356	I395V	probably damaging	Het
Ino80e	A	T	7: 126,857,312	S104T	probably damaging	Het
Inpp4a	A	G	1: 37,369,453	Y305C	probably benign	Het
Insrr	T	A	3: 87,804,531		probably null	Het
Itgae	T	G	11: 73,140,678	D1073E	possibly damaging	Het
Klf11	G	T	12: 24,655,142		probably null	Het
Lrguk	A	T	6: 34,029,695	K80M	probably benign	Het
Map2	A	T	1: 66,415,458	D1169V	probably damaging	Het
Mpst	G	T	15: 78,413,526	C248F	probably damaging	Het
Myo9a	C	A	9: 59,895,244	Q2005K	probably benign	Het
Nfatc4	C	T	14: 55,831,964	T649I	probably benign	Het
Nmt1	A	G	11: 103,046,400	R88G	probably benign	Het
Nqo1	G	A	8: 107,403,097		probably benign	Het
Nudt2	T	G	4: 41,477,576	M19R	probably benign	Het
Olfr102	T	A	17: 37,313,631	Y251F	probably benign	Het
Olfr1497	C	T	19: 13,795,162	V150M	probably benign	Het
Olfr517	T	A	7: 108,868,269	K295M	probably damaging	Het
P2ry1	T	A	3: 61,004,088	I216N	probably damaging	Het
Pcx	T	A	19: 4,619,561	L823*	probably null	Het
Pkhd1	A	G	1: 20,549,756	V880A	probably damaging	Het
Plcb1	A	T	2: 135,344,276	N721I	probably damaging	Het
Prdm15	T	C	16: 97,821,846	K269E	possibly damaging	Het
Prl7b1	A	G	13: 27,602,013	V224A	possibly damaging	Het
Reln	A	G	5: 21,929,127	V2601A	probably benign	Het
Rspo4	G	A	2: 151,873,073	R210Q	unknown	Het
Slc7a5	A	T	8: 121,888,423	D228E	probably benign	Het
Tas2r115	A	G	6: 132,737,251	S246P	probably damaging	Het
Tenm4	A	G	7: 96,774,146	Y716C	probably damaging	Het
Tgfb3	T	C	12: 86,062,149	K269E	possibly damaging	Het
Thoc6	A	G	17: 23,670,867	I27T	probably benign	Het
Tigd5	G	A	15: 75,909,899	G37S	probably benign	Het
Tmem259	C	T	10: 79,979,672	D102N	possibly damaging	Het
Tpo	T	G	12: 30,092,590	I712L	probably benign	Het
Ttn	G	A	2: 76,870,548	T21M	possibly damaging	Het
Utp20	A	T	10: 88,820,710		probably null	Het
Xrcc5	A	G	1: 72,312,589	D106G	probably damaging	Het
Xrn1	T	A	9: 95,979,141	F451L	probably benign	Het
Zar1l	T	A	5: 150,517,738	D141V	probably damaging	Het
Zfp27	A	T	7: 29,895,899	C214S	possibly damaging	Het
Znfx1	A	T	2: 167,038,824	C1211S	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
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
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'- TCATGTGACACATTCTCCCTAACG -3'
(R):5'- AGCATTGAGTCTAGGCGAATG -3'

Sequencing Primer
(F):5'- ACGTGCATCTCATGTGACATG -3'
(R):5'- CATTGAGTCTAGGCGAATGAGCATG -3'

Posted On

2019-10-07