Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Dnah14'

655092

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

A230079K17Rik, Dnahc14, Gm980, LOC381311

MMRRC Submission

067835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181404158-181642306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 181633577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 4 (H4P)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000192602

Predicted Effect

probably benign
Transcript: ENSMUST00000208001
AA Change: H4290P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,251,521 (GRCm39)	H422L	probably benign	Het
Adgra3	G	T	5: 50,145,013 (GRCm39)	P527T	probably damaging	Het
Afg1l	A	G	10: 42,302,517 (GRCm39)	V161A	probably damaging	Het
Als2cl	A	C	9: 110,714,025 (GRCm39)	E65A	probably damaging	Het
Arl3	A	C	19: 46,546,709 (GRCm39)	S39A	probably benign	Het
Cacna1a	T	C	8: 85,276,087 (GRCm39)	V560A	probably damaging	Het
Ccr10	C	T	11: 101,064,982 (GRCm39)	G183R	probably damaging	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Chkb	A	T	15: 89,312,376 (GRCm39)	V213E	possibly damaging	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
Crx	C	A	7: 15,602,031 (GRCm39)	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,444,287 (GRCm39)	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,353,129 (GRCm39)	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,739,550 (GRCm39)	F157L	probably damaging	Het
Dnah12	A	T	14: 26,548,849 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,657,142 (GRCm39)	D878G	probably benign	Het
Epb41l1	C	T	2: 156,363,684 (GRCm39)	T731I	probably benign	Het
Epg5	G	C	18: 77,991,946 (GRCm39)	E214D	probably benign	Het
Fam171b	A	G	2: 83,690,864 (GRCm39)	T276A	probably benign	Het
Fat4	G	A	3: 39,035,702 (GRCm39)	R3118H	probably benign	Het
Fbrs	C	T	7: 127,082,329 (GRCm39)	R327W	probably damaging	Het
Fmo3	A	G	1: 162,794,509 (GRCm39)	V187A	possibly damaging	Het
Gins1	T	C	2: 150,772,807 (GRCm39)	V190A	probably benign	Het
Gm17067	T	C	7: 42,358,155 (GRCm39)	S116G	probably damaging	Het
Gm5478	A	G	15: 101,553,862 (GRCm39)	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,848 (GRCm39)	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358 (GRCm39)	N217S	probably damaging	Het
Igf1r	T	C	7: 67,845,377 (GRCm39)	Y889H	probably benign	Het
Itpr2	T	G	6: 146,135,464 (GRCm39)	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,754,407 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,874,933 (GRCm39)	S11P	probably damaging	Het
Klra7	C	T	6: 130,201,109 (GRCm39)	G216R	probably damaging	Het
Krt34	T	C	11: 99,930,901 (GRCm39)	D167G	probably damaging	Het
Larp1b	A	C	3: 40,930,995 (GRCm39)	E291D	probably benign	Het
Lats1	T	A	10: 7,586,688 (GRCm39)	L950*	probably null	Het
Lrrc2	A	C	9: 110,799,218 (GRCm39)	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,505,456 (GRCm39)	M605K	probably benign	Het
Mocos	A	G	18: 24,799,314 (GRCm39)	K183E	probably benign	Het
Mpl	C	A	4: 118,301,213 (GRCm39)		probably null	Het
Mroh9	T	A	1: 162,883,250 (GRCm39)	T410S	probably damaging	Het
Notch3	T	C	17: 32,375,024 (GRCm39)	E430G	probably damaging	Het
Nsun6	T	C	2: 15,034,863 (GRCm39)	T252A	probably benign	Het
Ntrk1	C	A	3: 87,698,976 (GRCm39)		probably null	Het
Nts	G	T	10: 102,320,921 (GRCm39)	T56N	probably damaging	Het
Nup210l	A	G	3: 90,092,874 (GRCm39)	D1276G	probably null	Het
Or4c12b	G	T	2: 89,647,494 (GRCm39)	V269F	probably damaging	Het
Or51a10	C	A	7: 103,698,875 (GRCm39)	A229S	possibly damaging	Het
Or5b105	T	C	19: 13,079,840 (GRCm39)	Y276C	probably damaging	Het
Osbpl8	A	G	10: 111,113,177 (GRCm39)	S535G	possibly damaging	Het
Pax9	A	G	12: 56,743,550 (GRCm39)	I66V	possibly damaging	Het
Pja2	A	G	17: 64,599,843 (GRCm39)	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,465,590 (GRCm39)	L185S	probably benign	Het
Prkdc	T	A	16: 15,608,540 (GRCm39)		probably null	Het
Ptgdr2	A	T	19: 10,917,785 (GRCm39)	T101S	possibly damaging	Het
Ptprd	T	C	4: 75,984,496 (GRCm39)	D550G	probably benign	Het
Ptx3	G	T	3: 66,128,419 (GRCm39)	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,624,714 (GRCm39)	E184A	probably damaging	Het
Rfx3	C	T	19: 27,771,072 (GRCm39)	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,436,779 (GRCm39)	Q111R	probably benign	Het
Spart	A	G	3: 55,032,315 (GRCm39)	D383G	probably damaging	Het
Stpg3	C	A	2: 25,103,333 (GRCm39)	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,449,396 (GRCm39)	Q454*	probably null	Het
Trav10d	A	G	14: 53,048,780 (GRCm39)	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,306,321 (GRCm39)	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,302,332 (GRCm39)	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,692,045 (GRCm39)	E329G	probably benign	Het
Wnk4	C	A	11: 101,166,147 (GRCm39)	C891*	probably null	Het
Zdhhc16	G	T	19: 41,928,093 (GRCm39)	C204F	probably damaging	Het
Zfp868	T	C	8: 70,064,559 (GRCm39)	I259V	possibly damaging	Het
Zranb3	G	T	1: 127,920,647 (GRCm39)	Q426K	probably damaging	Het

Other mutations in Dnah14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01086:Dnah14	APN	1	181,579,611 (GRCm39)	missense	probably benign	0.17
IGL01764:Dnah14	APN	1	181,572,342 (GRCm39)	missense	probably benign	0.00
IGL03218:Dnah14	APN	1	181,582,834 (GRCm39)	missense	probably benign	0.02
IGL03290:Dnah14	APN	1	181,591,543 (GRCm39)	splice site	probably benign
IGL03384:Dnah14	APN	1	181,573,514 (GRCm39)	missense	probably benign	0.03
R0009:Dnah14	UTSW	1	181,596,972 (GRCm39)	splice site	probably benign
R0125:Dnah14	UTSW	1	181,579,628 (GRCm39)	missense	probably damaging	0.99
R0579:Dnah14	UTSW	1	181,572,312 (GRCm39)	missense	possibly damaging	0.72
R0973:Dnah14	UTSW	1	181,579,710 (GRCm39)	missense	probably damaging	1.00
R0973:Dnah14	UTSW	1	181,579,710 (GRCm39)	missense	probably damaging	1.00
R0974:Dnah14	UTSW	1	181,579,710 (GRCm39)	missense	probably damaging	1.00
R1609:Dnah14	UTSW	1	181,577,742 (GRCm39)	missense	probably damaging	0.97
R1860:Dnah14	UTSW	1	181,591,525 (GRCm39)	missense	probably damaging	1.00
R2050:Dnah14	UTSW	1	181,580,127 (GRCm39)	missense	probably damaging	1.00
R2974:Dnah14	UTSW	1	181,582,806 (GRCm39)	critical splice acceptor site	probably null
R4715:Dnah14	UTSW	1	181,584,788 (GRCm39)	missense	probably damaging	1.00
R5076:Dnah14	UTSW	1	181,584,799 (GRCm39)	missense	probably benign	0.01
R5424:Dnah14	UTSW	1	181,590,875 (GRCm39)	missense	possibly damaging	0.95
R5808:Dnah14	UTSW	1	181,568,724 (GRCm39)	missense	possibly damaging	0.72
R5997:Dnah14	UTSW	1	181,597,670 (GRCm39)	missense	probably benign	0.00
R6052:Dnah14	UTSW	1	181,494,052 (GRCm39)	missense	possibly damaging	0.50
R6061:Dnah14	UTSW	1	181,536,616 (GRCm39)	missense	probably damaging	1.00
R6089:Dnah14	UTSW	1	181,577,719 (GRCm39)	missense	probably damaging	1.00
R6092:Dnah14	UTSW	1	181,449,398 (GRCm39)	missense	probably benign	0.13
R6145:Dnah14	UTSW	1	181,493,982 (GRCm39)	missense	probably benign	0.00
R6163:Dnah14	UTSW	1	181,493,926 (GRCm39)	missense	probably benign	0.33
R6246:Dnah14	UTSW	1	181,508,453 (GRCm39)	missense	probably benign	0.00
R6302:Dnah14	UTSW	1	181,428,771 (GRCm39)	missense	possibly damaging	0.96
R6306:Dnah14	UTSW	1	181,412,589 (GRCm39)	frame shift	probably null
R6326:Dnah14	UTSW	1	181,611,121 (GRCm39)	missense	probably damaging	1.00
R6348:Dnah14	UTSW	1	181,454,285 (GRCm39)	missense	possibly damaging	0.83
R6367:Dnah14	UTSW	1	181,582,951 (GRCm39)	splice site	probably null
R6376:Dnah14	UTSW	1	181,433,459 (GRCm39)	missense	possibly damaging	0.79
R6389:Dnah14	UTSW	1	181,478,767 (GRCm39)	critical splice donor site	probably null
R6433:Dnah14	UTSW	1	181,479,222 (GRCm39)	missense	probably damaging	0.99
R6454:Dnah14	UTSW	1	181,611,270 (GRCm39)	missense	probably damaging	1.00
R6476:Dnah14	UTSW	1	181,572,333 (GRCm39)	missense	probably benign	0.26
R6523:Dnah14	UTSW	1	181,471,186 (GRCm39)	missense	probably benign	0.00
R6529:Dnah14	UTSW	1	181,494,034 (GRCm39)	missense	probably damaging	0.98
R6538:Dnah14	UTSW	1	181,412,550 (GRCm39)	missense	unknown
R6546:Dnah14	UTSW	1	181,566,552 (GRCm39)	missense	probably damaging	1.00
R6752:Dnah14	UTSW	1	181,421,017 (GRCm39)	missense	probably benign	0.07
R6762:Dnah14	UTSW	1	181,584,824 (GRCm39)	missense	probably damaging	1.00
R6786:Dnah14	UTSW	1	181,468,970 (GRCm39)	missense	probably benign	0.21
R6849:Dnah14	UTSW	1	181,636,510 (GRCm39)	missense	probably benign	0.00
R6877:Dnah14	UTSW	1	181,455,997 (GRCm39)	missense	possibly damaging	0.82
R6912:Dnah14	UTSW	1	181,577,748 (GRCm39)	missense	possibly damaging	0.83
R6919:Dnah14	UTSW	1	181,412,631 (GRCm39)	missense	probably benign	0.04
R6924:Dnah14	UTSW	1	181,455,517 (GRCm39)	missense	probably benign	0.04
R6957:Dnah14	UTSW	1	181,612,740 (GRCm39)	missense	possibly damaging	0.92
R6980:Dnah14	UTSW	1	181,475,795 (GRCm39)	missense	probably benign	0.00
R7018:Dnah14	UTSW	1	181,454,509 (GRCm39)	missense	possibly damaging	0.55
R7046:Dnah14	UTSW	1	181,450,568 (GRCm39)	missense	probably benign	0.01
R7058:Dnah14	UTSW	1	181,525,614 (GRCm39)	missense	probably benign	0.00
R7068:Dnah14	UTSW	1	181,597,355 (GRCm39)	missense	probably benign	0.35
R7115:Dnah14	UTSW	1	181,547,710 (GRCm39)	missense	probably damaging	1.00
R7130:Dnah14	UTSW	1	181,573,523 (GRCm39)	nonsense	probably null
R7165:Dnah14	UTSW	1	181,532,100 (GRCm39)	missense	probably benign	0.00
R7169:Dnah14	UTSW	1	181,529,930 (GRCm39)	missense	probably benign	0.00
R7184:Dnah14	UTSW	1	181,532,094 (GRCm39)	nonsense	probably null
R7232:Dnah14	UTSW	1	181,584,928 (GRCm39)	missense	probably damaging	1.00
R7260:Dnah14	UTSW	1	181,534,309 (GRCm39)	missense	probably damaging	0.99
R7276:Dnah14	UTSW	1	181,513,372 (GRCm39)	missense	probably benign	0.41
R7290:Dnah14	UTSW	1	181,455,739 (GRCm39)	missense	probably benign	0.20
R7314:Dnah14	UTSW	1	181,612,819 (GRCm39)	splice site	probably null
R7326:Dnah14	UTSW	1	181,425,968 (GRCm39)	missense	probably benign	0.02
R7336:Dnah14	UTSW	1	181,625,299 (GRCm39)	missense	probably damaging	0.96
R7363:Dnah14	UTSW	1	181,518,089 (GRCm39)	splice site	probably null
R7371:Dnah14	UTSW	1	181,454,450 (GRCm39)	missense	probably benign	0.05
R7376:Dnah14	UTSW	1	181,590,967 (GRCm39)	missense	probably benign	0.03
R7418:Dnah14	UTSW	1	181,444,307 (GRCm39)	missense	possibly damaging	0.92
R7473:Dnah14	UTSW	1	181,579,704 (GRCm39)	missense	probably damaging	0.99
R7514:Dnah14	UTSW	1	181,455,632 (GRCm39)	missense	probably damaging	0.96
R7555:Dnah14	UTSW	1	181,597,619 (GRCm39)	missense	probably benign	0.26
R7641:Dnah14	UTSW	1	181,535,098 (GRCm39)	missense	probably benign	0.01
R7663:Dnah14	UTSW	1	181,579,720 (GRCm39)	splice site	probably null
R7674:Dnah14	UTSW	1	181,535,098 (GRCm39)	missense	probably benign	0.01
R7680:Dnah14	UTSW	1	181,513,365 (GRCm39)	missense	probably benign	0.15
R7709:Dnah14	UTSW	1	181,530,049 (GRCm39)	critical splice donor site	probably null
R7842:Dnah14	UTSW	1	181,455,463 (GRCm39)	missense	probably damaging	0.99
R7861:Dnah14	UTSW	1	181,444,324 (GRCm39)	missense	probably damaging	1.00
R7988:Dnah14	UTSW	1	181,611,139 (GRCm39)	missense	probably damaging	0.97
R8016:Dnah14	UTSW	1	181,475,876 (GRCm39)	missense	probably benign	0.05
R8042:Dnah14	UTSW	1	181,471,196 (GRCm39)	critical splice donor site	probably null
R8071:Dnah14	UTSW	1	181,443,459 (GRCm39)	missense	possibly damaging	0.84
R8086:Dnah14	UTSW	1	181,593,797 (GRCm39)	missense	probably damaging	1.00
R8095:Dnah14	UTSW	1	181,633,597 (GRCm39)	nonsense	probably null
R8139:Dnah14	UTSW	1	181,582,853 (GRCm39)	missense	probably damaging	1.00
R8176:Dnah14	UTSW	1	181,484,598 (GRCm39)	missense	probably damaging	0.96
R8193:Dnah14	UTSW	1	181,515,770 (GRCm39)	missense	probably damaging	1.00
R8197:Dnah14	UTSW	1	181,517,666 (GRCm39)	missense	possibly damaging	0.94
R8209:Dnah14	UTSW	1	181,623,110 (GRCm39)	missense	possibly damaging	0.69
R8226:Dnah14	UTSW	1	181,623,110 (GRCm39)	missense	possibly damaging	0.69
R8251:Dnah14	UTSW	1	181,492,430 (GRCm39)	missense	probably damaging	1.00
R8264:Dnah14	UTSW	1	181,572,357 (GRCm39)	missense	probably damaging	0.99
R8284:Dnah14	UTSW	1	181,601,376 (GRCm39)	missense	probably benign	0.03
R8289:Dnah14	UTSW	1	181,543,780 (GRCm39)	nonsense	probably null
R8323:Dnah14	UTSW	1	181,532,109 (GRCm39)	missense	probably benign	0.01
R8442:Dnah14	UTSW	1	181,568,849 (GRCm39)	missense	probably damaging	0.97
R8507:Dnah14	UTSW	1	181,468,979 (GRCm39)	missense	probably benign	0.02
R8509:Dnah14	UTSW	1	181,642,220 (GRCm39)	missense
R8520:Dnah14	UTSW	1	181,481,203 (GRCm39)	missense	probably damaging	1.00
R8530:Dnah14	UTSW	1	181,492,511 (GRCm39)	missense	probably damaging	1.00
R8703:Dnah14	UTSW	1	181,493,576 (GRCm39)	nonsense	probably null
R8710:Dnah14	UTSW	1	181,517,876 (GRCm39)	missense	probably benign	0.04
R8752:Dnah14	UTSW	1	181,455,581 (GRCm39)	missense	probably benign	0.00
R8792:Dnah14	UTSW	1	181,642,189 (GRCm39)	missense
R8797:Dnah14	UTSW	1	181,465,412 (GRCm39)	missense	probably benign	0.19
R8821:Dnah14	UTSW	1	181,619,569 (GRCm39)	nonsense	probably null
R8834:Dnah14	UTSW	1	181,444,315 (GRCm39)	missense	possibly damaging	0.83
R8913:Dnah14	UTSW	1	181,553,063 (GRCm39)	missense	probably benign	0.01
R8925:Dnah14	UTSW	1	181,508,321 (GRCm39)	missense	probably damaging	1.00
R8927:Dnah14	UTSW	1	181,508,321 (GRCm39)	missense	probably damaging	1.00
R8934:Dnah14	UTSW	1	181,450,288 (GRCm39)	missense	possibly damaging	0.84
R9090:Dnah14	UTSW	1	181,597,325 (GRCm39)	missense	probably benign	0.33
R9169:Dnah14	UTSW	1	181,433,381 (GRCm39)	missense	probably benign	0.06
R9199:Dnah14	UTSW	1	181,478,566 (GRCm39)	missense	possibly damaging	0.50
R9212:Dnah14	UTSW	1	181,628,852 (GRCm39)	missense	possibly damaging	0.95
R9213:Dnah14	UTSW	1	181,444,205 (GRCm39)	critical splice donor site	probably null
R9271:Dnah14	UTSW	1	181,597,325 (GRCm39)	missense	probably benign	0.33
R9282:Dnah14	UTSW	1	181,642,077 (GRCm39)	missense
R9350:Dnah14	UTSW	1	181,562,369 (GRCm39)	missense	possibly damaging	0.79
R9358:Dnah14	UTSW	1	181,536,598 (GRCm39)	missense	probably benign	0.01
R9436:Dnah14	UTSW	1	181,508,348 (GRCm39)	missense	probably damaging	1.00
R9484:Dnah14	UTSW	1	181,625,311 (GRCm39)	missense	probably benign	0.01
R9484:Dnah14	UTSW	1	181,517,773 (GRCm39)	missense	probably benign	0.45
R9486:Dnah14	UTSW	1	181,508,494 (GRCm39)	missense	possibly damaging	0.68
R9546:Dnah14	UTSW	1	181,420,992 (GRCm39)	critical splice acceptor site	probably null
R9547:Dnah14	UTSW	1	181,420,992 (GRCm39)	critical splice acceptor site	probably null
R9578:Dnah14	UTSW	1	181,502,007 (GRCm39)	missense	probably benign	0.16
R9654:Dnah14	UTSW	1	181,593,904 (GRCm39)	missense	probably benign	0.01
R9681:Dnah14	UTSW	1	181,562,414 (GRCm39)	missense	possibly damaging	0.91
R9683:Dnah14	UTSW	1	181,426,509 (GRCm39)	missense	probably benign	0.01
R9687:Dnah14	UTSW	1	181,425,978 (GRCm39)	missense	probably benign	0.01
R9718:Dnah14	UTSW	1	181,450,544 (GRCm39)	missense	probably benign	0.08
R9751:Dnah14	UTSW	1	181,619,610 (GRCm39)	missense	probably damaging	1.00
R9757:Dnah14	UTSW	1	181,513,349 (GRCm39)	missense	probably benign	0.03
RF007:Dnah14	UTSW	1	181,513,374 (GRCm39)	missense	probably benign	0.00
RF012:Dnah14	UTSW	1	181,455,463 (GRCm39)	missense	probably damaging	0.99
Z1176:Dnah14	UTSW	1	181,584,916 (GRCm39)	missense	possibly damaging	0.83
Z1177:Dnah14	UTSW	1	181,517,885 (GRCm39)	missense	probably benign	0.03
Z1177:Dnah14	UTSW	1	181,593,869 (GRCm39)	missense	probably damaging	1.00
Z1177:Dnah14	UTSW	1	181,590,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTGAGGCTGAGGTAGACC -3'
(R):5'- GGGTATCTCAAGTTATCCTGGAG -3'

Sequencing Primer
(F):5'- ACCGGGGTGAGTGGTCAG -3'
(R):5'- TCAAGTTATCCTGGAGATAGGGAG -3'

Posted On

2020-10-20