Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Dnah14'

519450

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

Dnahc14, Gm980, LOC381311, A230079K17Rik

MMRRC Submission

044590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181783705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3799 (S3799P)

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: S3799P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,628 (GRCm38)	H145P	possibly damaging	Het
Arid2	C	T	15: 96,372,413 (GRCm38)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,370,833 (GRCm38)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,008,499 (GRCm38)		probably null	Het
Casz1	A	T	4: 148,951,495 (GRCm38)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,393,375 (GRCm38)	S100P	probably damaging	Het
Creld2	T	A	15: 88,823,071 (GRCm38)	C197*	probably null	Het
Csmd1	A	T	8: 15,921,150 (GRCm38)	F3055Y	probably damaging	Het
Ddx58	T	A	4: 40,220,456 (GRCm38)	I476F	probably damaging	Het
Dnah11	T	A	12: 117,916,855 (GRCm38)	E3843D	probably benign	Het
Dpp9	A	T	17: 56,206,808 (GRCm38)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,864,762 (GRCm38)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Faf1	G	T	4: 109,842,334 (GRCm38)	A359S	probably benign	Het
Fam13b	A	G	18: 34,457,662 (GRCm38)		probably null	Het
Fam46b	A	G	4: 133,480,409 (GRCm38)	D37G	probably damaging	Het
Gm14496	A	T	2: 181,996,222 (GRCm38)	N363I	probably damaging	Het
Gm15922	C	G	7: 3,737,320 (GRCm38)	A301P	probably damaging	Het
Gm5346	G	T	8: 43,626,808 (GRCm38)	N126K	probably damaging	Het
Grm8	T	G	6: 27,363,776 (GRCm38)	H580P	possibly damaging	Het
Itih5	T	C	2: 10,240,668 (GRCm38)	F523L	probably benign	Het
Klhl1	A	T	14: 96,280,091 (GRCm38)	M383K	possibly damaging	Het
Lgi4	A	T	7: 31,060,132 (GRCm38)	T38S	probably benign	Het
Myh13	T	A	11: 67,350,365 (GRCm38)	M856K	probably benign	Het
Myo7a	C	T	7: 98,073,167 (GRCm38)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,385,774 (GRCm38)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,137,406 (GRCm38)	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,318,767 (GRCm38)	H179Q	probably damaging	Het
Nup153	T	C	13: 46,709,660 (GRCm38)		probably null	Het
Odf2l	C	A	3: 145,153,420 (GRCm38)	Q517K	possibly damaging	Het
Olfr1013	A	G	2: 85,770,373 (GRCm38)	K191E	probably benign	Het
Olfr1254	T	C	2: 89,789,178 (GRCm38)	Y58C	probably damaging	Het
Olfr1448	T	A	19: 12,920,031 (GRCm38)	N93Y	probably benign	Het
Olfr149	A	G	9: 39,701,834 (GRCm38)	*312Q	probably null	Het
Omd	A	T	13: 49,589,869 (GRCm38)	I132F	probably damaging	Het
Otog	A	G	7: 46,305,817 (GRCm38)	N544D	probably damaging	Het
Ovol3	A	G	7: 30,235,375 (GRCm38)	Y29H	probably damaging	Het
Papolb	T	C	5: 142,529,598 (GRCm38)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,499,269 (GRCm38)	V706L	probably benign	Het
Plekhm1	G	A	11: 103,377,382 (GRCm38)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,537,986 (GRCm38)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm38)	F127L	probably damaging	Het
Rnf5	A	C	17: 34,602,309 (GRCm38)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,400,847 (GRCm38)	M517K	probably damaging	Het
Slc44a5	C	T	3: 154,243,159 (GRCm38)	T188M	probably benign	Het
Smco1	A	G	16: 32,273,223 (GRCm38)	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,374,433 (GRCm38)	I77F	probably damaging	Het
Spem2	A	G	11: 69,817,428 (GRCm38)	L237P	probably damaging	Het
Spg7	A	G	8: 123,079,423 (GRCm38)	K291E	possibly damaging	Het
Tiam2	A	T	17: 3,438,663 (GRCm38)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm38)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,876,053 (GRCm38)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,129,018 (GRCm38)	*138R	probably null	Het
Tpst1	A	G	5: 130,102,051 (GRCm38)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,415,840 (GRCm38)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,538,549 (GRCm38)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,838,822 (GRCm38)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,634,746 (GRCm38)		probably benign	Het
Ugt2b37	T	G	5: 87,240,977 (GRCm38)	D459A	probably damaging	Het
Usp35	A	T	7: 97,311,560 (GRCm38)	N886K	probably damaging	Het
Usp35	A	T	7: 97,311,644 (GRCm38)	Y858*	probably null	Het
Wdr33	T	C	18: 31,829,975 (GRCm38)	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,997,879 (GRCm38)	T506I	possibly damaging	Het

Other mutations in Dnah14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Dnah14	APN	1	181,752,046 (GRCm38)	missense	probably benign	0.17
IGL01764:Dnah14	APN	1	181,744,777 (GRCm38)	missense	probably benign	0.00
IGL03218:Dnah14	APN	1	181,755,269 (GRCm38)	missense	probably benign	0.02
IGL03290:Dnah14	APN	1	181,763,978 (GRCm38)	splice site	probably benign
IGL03384:Dnah14	APN	1	181,745,949 (GRCm38)	missense	probably benign	0.03
R0009:Dnah14	UTSW	1	181,769,407 (GRCm38)	splice site	probably benign
R0125:Dnah14	UTSW	1	181,752,063 (GRCm38)	missense	probably damaging	0.99
R0579:Dnah14	UTSW	1	181,744,747 (GRCm38)	missense	possibly damaging	0.72
R0973:Dnah14	UTSW	1	181,752,145 (GRCm38)	missense	probably damaging	1.00
R0973:Dnah14	UTSW	1	181,752,145 (GRCm38)	missense	probably damaging	1.00
R0974:Dnah14	UTSW	1	181,752,145 (GRCm38)	missense	probably damaging	1.00
R1609:Dnah14	UTSW	1	181,750,177 (GRCm38)	missense	probably damaging	0.97
R1860:Dnah14	UTSW	1	181,763,960 (GRCm38)	missense	probably damaging	1.00
R2050:Dnah14	UTSW	1	181,752,562 (GRCm38)	missense	probably damaging	1.00
R2974:Dnah14	UTSW	1	181,755,241 (GRCm38)	critical splice acceptor site	probably null
R4715:Dnah14	UTSW	1	181,757,223 (GRCm38)	missense	probably damaging	1.00
R5076:Dnah14	UTSW	1	181,757,234 (GRCm38)	missense	probably benign	0.01
R5424:Dnah14	UTSW	1	181,763,310 (GRCm38)	missense	possibly damaging	0.95
R5808:Dnah14	UTSW	1	181,741,159 (GRCm38)	missense	possibly damaging	0.72
R5997:Dnah14	UTSW	1	181,770,105 (GRCm38)	missense	probably benign	0.00
R6052:Dnah14	UTSW	1	181,666,487 (GRCm38)	missense	possibly damaging	0.50
R6061:Dnah14	UTSW	1	181,709,051 (GRCm38)	missense	probably damaging	1.00
R6089:Dnah14	UTSW	1	181,750,154 (GRCm38)	missense	probably damaging	1.00
R6092:Dnah14	UTSW	1	181,621,833 (GRCm38)	missense	probably benign	0.13
R6145:Dnah14	UTSW	1	181,666,417 (GRCm38)	missense	probably benign	0.00
R6163:Dnah14	UTSW	1	181,666,361 (GRCm38)	missense	probably benign	0.33
R6246:Dnah14	UTSW	1	181,680,888 (GRCm38)	missense	probably benign	0.00
R6302:Dnah14	UTSW	1	181,601,206 (GRCm38)	missense	possibly damaging	0.96
R6306:Dnah14	UTSW	1	181,585,024 (GRCm38)	frame shift	probably null
R6326:Dnah14	UTSW	1	181,783,556 (GRCm38)	missense	probably damaging	1.00
R6348:Dnah14	UTSW	1	181,626,720 (GRCm38)	missense	possibly damaging	0.83
R6367:Dnah14	UTSW	1	181,755,386 (GRCm38)	splice site	probably null
R6376:Dnah14	UTSW	1	181,605,894 (GRCm38)	missense	possibly damaging	0.79
R6389:Dnah14	UTSW	1	181,651,202 (GRCm38)	critical splice donor site	probably null
R6433:Dnah14	UTSW	1	181,651,657 (GRCm38)	missense	probably damaging	0.99
R6476:Dnah14	UTSW	1	181,744,768 (GRCm38)	missense	probably benign	0.26
R6523:Dnah14	UTSW	1	181,643,621 (GRCm38)	missense	probably benign	0.00
R6529:Dnah14	UTSW	1	181,666,469 (GRCm38)	missense	probably damaging	0.98
R6538:Dnah14	UTSW	1	181,584,985 (GRCm38)	missense	unknown
R6546:Dnah14	UTSW	1	181,738,987 (GRCm38)	missense	probably damaging	1.00
R6752:Dnah14	UTSW	1	181,593,452 (GRCm38)	missense	probably benign	0.07
R6762:Dnah14	UTSW	1	181,757,259 (GRCm38)	missense	probably damaging	1.00
R6786:Dnah14	UTSW	1	181,641,405 (GRCm38)	missense	probably benign	0.21
R6849:Dnah14	UTSW	1	181,808,945 (GRCm38)	missense	probably benign	0.00
R6877:Dnah14	UTSW	1	181,628,432 (GRCm38)	missense	possibly damaging	0.82
R6912:Dnah14	UTSW	1	181,750,183 (GRCm38)	missense	possibly damaging	0.83
R6919:Dnah14	UTSW	1	181,585,066 (GRCm38)	missense	probably benign	0.04
R6924:Dnah14	UTSW	1	181,627,952 (GRCm38)	missense	probably benign	0.04
R6957:Dnah14	UTSW	1	181,785,175 (GRCm38)	missense	possibly damaging	0.92
R6980:Dnah14	UTSW	1	181,648,230 (GRCm38)	missense	probably benign	0.00
R7018:Dnah14	UTSW	1	181,626,944 (GRCm38)	missense	possibly damaging	0.55
R7046:Dnah14	UTSW	1	181,623,003 (GRCm38)	missense	probably benign	0.01
R7058:Dnah14	UTSW	1	181,698,049 (GRCm38)	missense	probably benign	0.00
R7068:Dnah14	UTSW	1	181,769,790 (GRCm38)	missense	probably benign	0.35
R7115:Dnah14	UTSW	1	181,720,145 (GRCm38)	missense	probably damaging	1.00
R7130:Dnah14	UTSW	1	181,745,958 (GRCm38)	nonsense	probably null
R7165:Dnah14	UTSW	1	181,704,535 (GRCm38)	missense	probably benign	0.00
R7169:Dnah14	UTSW	1	181,702,365 (GRCm38)	missense	probably benign	0.00
R7184:Dnah14	UTSW	1	181,704,529 (GRCm38)	nonsense	probably null
R7232:Dnah14	UTSW	1	181,757,363 (GRCm38)	missense	probably damaging	1.00
R7260:Dnah14	UTSW	1	181,706,744 (GRCm38)	missense	probably damaging	0.99
R7276:Dnah14	UTSW	1	181,685,807 (GRCm38)	missense	probably benign	0.41
R7290:Dnah14	UTSW	1	181,628,174 (GRCm38)	missense	probably benign	0.20
R7314:Dnah14	UTSW	1	181,785,254 (GRCm38)	splice site	probably null
R7326:Dnah14	UTSW	1	181,598,403 (GRCm38)	missense	probably benign	0.02
R7336:Dnah14	UTSW	1	181,797,734 (GRCm38)	missense	probably damaging	0.96
R7363:Dnah14	UTSW	1	181,690,524 (GRCm38)	splice site	probably null
R7371:Dnah14	UTSW	1	181,626,885 (GRCm38)	missense	probably benign	0.05
R7376:Dnah14	UTSW	1	181,763,402 (GRCm38)	missense	probably benign	0.03
R7418:Dnah14	UTSW	1	181,616,742 (GRCm38)	missense	possibly damaging	0.92
R7473:Dnah14	UTSW	1	181,752,139 (GRCm38)	missense	probably damaging	0.99
R7514:Dnah14	UTSW	1	181,628,067 (GRCm38)	missense	probably damaging	0.96
R7555:Dnah14	UTSW	1	181,770,054 (GRCm38)	missense	probably benign	0.26
R7641:Dnah14	UTSW	1	181,707,533 (GRCm38)	missense	probably benign	0.01
R7663:Dnah14	UTSW	1	181,752,155 (GRCm38)	splice site	probably null
R7674:Dnah14	UTSW	1	181,707,533 (GRCm38)	missense	probably benign	0.01
R7680:Dnah14	UTSW	1	181,685,800 (GRCm38)	missense	probably benign	0.15
R7709:Dnah14	UTSW	1	181,702,484 (GRCm38)	critical splice donor site	probably null
R7842:Dnah14	UTSW	1	181,627,898 (GRCm38)	missense	probably damaging	0.99
R7861:Dnah14	UTSW	1	181,616,759 (GRCm38)	missense	probably damaging	1.00
R7988:Dnah14	UTSW	1	181,783,574 (GRCm38)	missense	probably damaging	0.97
R8016:Dnah14	UTSW	1	181,648,311 (GRCm38)	missense	probably benign	0.05
R8042:Dnah14	UTSW	1	181,643,631 (GRCm38)	critical splice donor site	probably null
R8071:Dnah14	UTSW	1	181,615,894 (GRCm38)	missense	possibly damaging	0.84
R8086:Dnah14	UTSW	1	181,766,232 (GRCm38)	missense	probably damaging	1.00
R8095:Dnah14	UTSW	1	181,806,032 (GRCm38)	nonsense	probably null
R8139:Dnah14	UTSW	1	181,755,288 (GRCm38)	missense	probably damaging	1.00
R8176:Dnah14	UTSW	1	181,657,033 (GRCm38)	missense	probably damaging	0.96
R8193:Dnah14	UTSW	1	181,688,205 (GRCm38)	missense	probably damaging	1.00
R8197:Dnah14	UTSW	1	181,690,101 (GRCm38)	missense	possibly damaging	0.94
R8209:Dnah14	UTSW	1	181,795,545 (GRCm38)	missense	possibly damaging	0.69
R8226:Dnah14	UTSW	1	181,795,545 (GRCm38)	missense	possibly damaging	0.69
R8251:Dnah14	UTSW	1	181,664,865 (GRCm38)	missense	probably damaging	1.00
R8264:Dnah14	UTSW	1	181,744,792 (GRCm38)	missense	probably damaging	0.99
R8284:Dnah14	UTSW	1	181,773,811 (GRCm38)	missense	probably benign	0.03
R8289:Dnah14	UTSW	1	181,716,215 (GRCm38)	nonsense	probably null
R8323:Dnah14	UTSW	1	181,704,544 (GRCm38)	missense	probably benign	0.01
R8442:Dnah14	UTSW	1	181,741,284 (GRCm38)	missense	probably damaging	0.97
R8458:Dnah14	UTSW	1	181,806,012 (GRCm38)	missense
R8507:Dnah14	UTSW	1	181,641,414 (GRCm38)	missense	probably benign	0.02
R8509:Dnah14	UTSW	1	181,814,655 (GRCm38)	missense
R8520:Dnah14	UTSW	1	181,653,638 (GRCm38)	missense	probably damaging	1.00
R8530:Dnah14	UTSW	1	181,664,946 (GRCm38)	missense	probably damaging	1.00
R8703:Dnah14	UTSW	1	181,666,011 (GRCm38)	nonsense	probably null
R8710:Dnah14	UTSW	1	181,690,311 (GRCm38)	missense	probably benign	0.04
R8752:Dnah14	UTSW	1	181,628,016 (GRCm38)	missense	probably benign	0.00
R8792:Dnah14	UTSW	1	181,814,624 (GRCm38)	missense
R8797:Dnah14	UTSW	1	181,637,847 (GRCm38)	missense	probably benign	0.19
R8821:Dnah14	UTSW	1	181,792,004 (GRCm38)	nonsense	probably null
R8834:Dnah14	UTSW	1	181,616,750 (GRCm38)	missense	possibly damaging	0.83
R8913:Dnah14	UTSW	1	181,725,498 (GRCm38)	missense	probably benign	0.01
R8925:Dnah14	UTSW	1	181,680,756 (GRCm38)	missense	probably damaging	1.00
R8927:Dnah14	UTSW	1	181,680,756 (GRCm38)	missense	probably damaging	1.00
R8934:Dnah14	UTSW	1	181,622,723 (GRCm38)	missense	possibly damaging	0.84
R9090:Dnah14	UTSW	1	181,769,760 (GRCm38)	missense	probably benign	0.33
R9169:Dnah14	UTSW	1	181,605,816 (GRCm38)	missense	probably benign	0.06
R9199:Dnah14	UTSW	1	181,651,001 (GRCm38)	missense	possibly damaging	0.50
R9212:Dnah14	UTSW	1	181,801,287 (GRCm38)	missense	possibly damaging	0.95
R9213:Dnah14	UTSW	1	181,616,640 (GRCm38)	critical splice donor site	probably null
R9271:Dnah14	UTSW	1	181,769,760 (GRCm38)	missense	probably benign	0.33
R9282:Dnah14	UTSW	1	181,814,512 (GRCm38)	missense
R9350:Dnah14	UTSW	1	181,734,804 (GRCm38)	missense	possibly damaging	0.79
R9358:Dnah14	UTSW	1	181,709,033 (GRCm38)	missense	probably benign	0.01
R9436:Dnah14	UTSW	1	181,680,783 (GRCm38)	missense	probably damaging	1.00
R9484:Dnah14	UTSW	1	181,797,746 (GRCm38)	missense	probably benign	0.01
R9484:Dnah14	UTSW	1	181,690,208 (GRCm38)	missense	probably benign	0.45
R9486:Dnah14	UTSW	1	181,680,929 (GRCm38)	missense	possibly damaging	0.68
R9546:Dnah14	UTSW	1	181,593,427 (GRCm38)	critical splice acceptor site	probably null
R9547:Dnah14	UTSW	1	181,593,427 (GRCm38)	critical splice acceptor site	probably null
R9578:Dnah14	UTSW	1	181,674,442 (GRCm38)	missense	probably benign	0.16
R9654:Dnah14	UTSW	1	181,766,339 (GRCm38)	missense	probably benign	0.01
R9681:Dnah14	UTSW	1	181,734,849 (GRCm38)	missense	possibly damaging	0.91
R9683:Dnah14	UTSW	1	181,598,944 (GRCm38)	missense	probably benign	0.01
R9687:Dnah14	UTSW	1	181,598,413 (GRCm38)	missense	probably benign	0.01
R9718:Dnah14	UTSW	1	181,622,979 (GRCm38)	missense	probably benign	0.08
R9751:Dnah14	UTSW	1	181,792,045 (GRCm38)	missense	probably damaging	1.00
R9757:Dnah14	UTSW	1	181,685,784 (GRCm38)	missense	probably benign	0.03
RF007:Dnah14	UTSW	1	181,685,809 (GRCm38)	missense	probably benign	0.00
RF012:Dnah14	UTSW	1	181,627,898 (GRCm38)	missense	probably damaging	0.99
Z1176:Dnah14	UTSW	1	181,757,351 (GRCm38)	missense	possibly damaging	0.83
Z1177:Dnah14	UTSW	1	181,690,320 (GRCm38)	missense	probably benign	0.03
Z1177:Dnah14	UTSW	1	181,766,304 (GRCm38)	missense	probably damaging	1.00
Z1177:Dnah14	UTSW	1	181,763,334 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTTTAAACTAACCTTGGCTTCCC -3'
(R):5'- ACCGGGCACAGAGTTTACTC -3'

Sequencing Primer
(F):5'- AAACTAACCTTGGCTTCCCTTTTC -3'
(R):5'- GGGCACAGAGTTTACTCCTCCAC -3'

Posted On

2018-05-24