Mutagenetix > Incidental Mutation

Incidental Mutation 'R8016:Dnah14'

617155

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

A230079K17Rik, Dnahc14, Gm980, LOC381311

MMRRC Submission

067456-MU

Accession Numbers

Essential gene?

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

Stock #

R8016 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181404158-181642306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 181475876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1376 (R1376H)

Ref Sequence

ENSEMBL: ENSMUSP00000146843 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000208001
AA Change: R1376H

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (41/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,583,926 (GRCm39)	M105K	probably benign	Het
Acer2	T	C	4: 86,804,443 (GRCm39)	F53L	probably damaging	Het
Adam15	A	G	3: 89,252,668 (GRCm39)	V307A	probably benign	Het
Afmid	A	G	11: 117,726,370 (GRCm39)	I193V	probably benign	Het
Ahdc1	C	T	4: 132,790,226 (GRCm39)	T489M	possibly damaging	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Bag6	T	A	17: 35,357,733 (GRCm39)	V133D	unknown	Het
Btla	T	C	16: 45,070,950 (GRCm39)	V304A	probably damaging	Het
Cacna1g	A	T	11: 94,334,007 (GRCm39)	I878N	probably benign	Het
Ccnf	A	T	17: 24,450,784 (GRCm39)	I398N	possibly damaging	Het
Clcnka	A	T	4: 141,117,463 (GRCm39)	S445T	possibly damaging	Het
Col6a6	A	G	9: 105,644,727 (GRCm39)	V1187A	possibly damaging	Het
Col7a1	T	C	9: 108,787,712 (GRCm39)	V664A	unknown	Het
Crb2	C	A	2: 37,676,568 (GRCm39)	A183E	possibly damaging	Het
Cyp2j5	C	T	4: 96,546,951 (GRCm39)	V188I	probably damaging	Het
D430041D05Rik	A	T	2: 104,022,864 (GRCm39)	N1043K	probably damaging	Het
Foxj1	A	G	11: 116,222,675 (GRCm39)	F376S	probably damaging	Het
Hsd17b11	A	T	5: 104,169,526 (GRCm39)	I27N	probably damaging	Het
Itih1	A	G	14: 30,657,251 (GRCm39)	V528A	probably damaging	Het
Ndor1	A	G	2: 25,139,329 (GRCm39)	V283A	probably benign	Het
Nup54	G	A	5: 92,582,176 (GRCm39)	T45I	unknown	Het
Or4c100	G	A	2: 88,356,517 (GRCm39)	V197I	probably damaging	Het
Or7g16	T	C	9: 18,727,588 (GRCm39)	M1V	probably null	Het
Pbld2	T	C	10: 62,883,744 (GRCm39)	F70L	probably damaging	Het
Pdzph1	A	G	17: 59,239,476 (GRCm39)	S951P	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Rasgrp1	A	T	2: 117,118,314 (GRCm39)	C558*	probably null	Het
Slc12a6	A	T	2: 112,186,899 (GRCm39)	H966L	probably benign	Het
Snx14	A	T	9: 88,297,740 (GRCm39)	V176D	probably damaging	Het
St6galnac3	G	T	3: 152,911,129 (GRCm39)	H277Q	probably damaging	Het
Syde2	T	A	3: 145,707,727 (GRCm39)	D822E	possibly damaging	Het
Syne2	A	T	12: 75,989,681 (GRCm39)	E1853D	probably benign	Het
Tigd4	T	C	3: 84,501,971 (GRCm39)	V296A	possibly damaging	Het
Tmed4	A	T	11: 6,224,242 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,651,826 (GRCm39)	I198N	probably damaging	Het
Ubap2	A	G	4: 41,195,201 (GRCm39)	S1117P	possibly damaging	Het
Wasl	A	T	6: 24,634,594 (GRCm39)	Y103N	probably damaging	Het
Zfp628	A	G	7: 4,922,228 (GRCm39)	D150G	probably damaging	Het
Zfp936	T	A	7: 42,838,848 (GRCm39)	V105D	possibly 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
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
R8458:Dnah14	UTSW	1	181,633,577 (GRCm39)	missense
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'- TGCAGTCTTCAGCTTTCAAATG -3'
(R):5'- TCCACTCAAAGTCCTGGATGC -3'

Sequencing Primer
(F):5'- GCTTTCAAATGTATATGTGCTTTCC -3'
(R):5'- CTCAAAGTCCTGGATGCTGAAGATC -3'

Posted On

2020-01-23