Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Dnah14'

670972

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

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8792 (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 181814624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 102 (T102S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005003] [ENSMUST00000208001]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000005003

SMART Domains

Protein: ENSMUSP00000005003
Gene: ENSMUSG00000004880

Domain	Start	End	E-Value	Type
TUDOR	4	62	6.7e-9	SMART
low complexity region	63	101	N/A	INTRINSIC
low complexity region	111	121	N/A	INTRINSIC
Pfam:ERG4_ERG24	194	626	4.6e-161	PFAM
Pfam:DUF1295	452	617	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195458

Predicted Effect

probably benign
Transcript: ENSMUST00000208001
AA Change: T4459S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0666

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,909,496	I382T	probably damaging	Het
Adam39	G	T	8: 40,826,576	R668L	probably benign	Het
Adam6b	T	C	12: 113,491,690	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,688,675	E692G	probably damaging	Het
Asxl2	T	C	12: 3,496,536	L440P	probably benign	Het
Bmf	A	G	2: 118,546,905	F121L	probably damaging	Het
Cdk9	A	T	2: 32,708,257	F262L	probably benign	Het
Clock	T	A	5: 76,262,727	D99V	probably damaging	Het
Eps15	T	C	4: 109,305,711	V67A	probably benign	Het
Fam171b	T	A	2: 83,812,759	L4H	probably damaging	Het
Fam214b	G	A	4: 43,033,546	P536S	probably damaging	Het
Fam71d	C	T	12: 78,715,150	T196M	probably damaging	Het
Fcho2	T	A	13: 98,815,261		probably benign	Het
Gal3st4	C	T	5: 138,270,989	V70M	probably damaging	Het
Gif	C	A	19: 11,750,235	A141E	probably damaging	Het
Got1l1	C	A	8: 27,200,721		probably null	Het
Gpr146	A	G	5: 139,392,794	Y117C	probably damaging	Het
Gpr158	G	A	2: 21,553,326	V346M	probably damaging	Het
Herc1	C	A	9: 66,465,486	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,981,794	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,927,788		probably benign	Het
Lama4	T	G	10: 39,048,052	I485M	probably benign	Het
Lrp4	C	T	2: 91,494,955	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,486,586	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,095,144	Q692*	probably null	Het
Mark2	G	T	19: 7,281,215	H570N	probably benign	Het
Mlph	T	C	1: 90,942,960		probably benign	Het
Mnx1	G	A	5: 29,478,374		probably benign	Het
Nkx2-2	A	T	2: 147,177,893	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,160,093	I1058V	probably benign	Het
Nwd2	T	C	5: 63,805,704	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,681,100	N509I	possibly damaging	Het
Olfr1226	T	C	2: 89,193,887	Y49C	probably benign	Het
Olfr1307	G	C	2: 111,944,728	H243D	probably damaging	Het
Olfr387-ps1	T	C	11: 73,664,645	L12P	probably damaging	Het
Pabpc6	T	C	17: 9,669,403	N73S	probably damaging	Het
Parp12	A	G	6: 39,089,050	F580L	probably benign	Het
Parvg	C	A	15: 84,328,959	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,449,488	V549A	probably damaging	Het
Pde8b	T	A	13: 95,043,026	H374L	probably benign	Het
Phf2	C	T	13: 48,817,505		probably benign	Het
Pld4	T	C	12: 112,763,490	F69L	probably benign	Het
Qrich2	T	C	11: 116,456,630	I1123V	unknown	Het
Rida	C	T	15: 34,495,096	V8M	possibly damaging	Het
Rnf19b	T	A	4: 129,058,685	C139S	probably damaging	Het
Rp1	T	C	1: 4,024,868	I1254M	unknown	Het
Rpl3l	A	G	17: 24,728,473	T2A	possibly damaging	Het
Serpinb6e	A	T	13: 33,838,959	I147N	possibly damaging	Het
Slc12a4	G	A	8: 105,946,758	T727I	probably damaging	Het
Slc25a16	C	T	10: 62,928,340	R59*	probably null	Het
Strc	T	A	2: 121,377,805	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 50,799,934		probably benign	Het
Tll1	T	A	8: 64,085,465	T382S	probably damaging	Het
Tmem246	T	C	4: 49,587,067	T34A	possibly damaging	Het
Tmprss6	T	A	15: 78,444,128	D556V	probably damaging	Het
Ttc13	A	G	8: 124,674,360		probably null	Het
Ttc30a1	C	A	2: 75,981,554	E62*	probably null	Het
Usp43	T	A	11: 67,876,418	K709*	probably null	Het
Vcan	A	T	13: 89,692,111	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,523,161	I81V	probably benign	Het
Zxdc	A	G	6: 90,370,004	T116A	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
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
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
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'- GTTAGATACGTTCCATGCACAAAC -3'
(R):5'- GTTTGGCTAGGCACATGCTG -3'

Sequencing Primer
(F):5'- GTTCCATGCACAAACGTAAATACCG -3'
(R):5'- TAGGCACATGCTGTTCCAG -3'

Posted On

2021-04-30