Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Dnah14'

226301

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

A230079K17Rik, Dnahc14, Gm980, LOC381311

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

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

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181404158-181642306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181580127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 3099 (L3099P)

Ref Sequence

ENSEMBL: ENSMUSP00000146843 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160345

SMART Domains

Protein: ENSMUSP00000124817
Gene: ENSMUSG00000047369

Domain	Start	End	E-Value	Type
Pfam:MT	46	381	2.1e-41	PFAM
Pfam:AAA_9	401	524	8.3e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208001
AA Change: L3099P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Apc2	C	A	10: 80,143,443 (GRCm39)		probably null	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Ccdc121	T	C	5: 31,643,402 (GRCm39)	I44T	possibly damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	T	C	8: 72,070,330 (GRCm39)		probably null	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
D7Ertd443e	T	A	7: 133,868,527 (GRCm39)	E659D	probably damaging	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,735,985 (GRCm39)	S649L	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Myo9b	T	A	8: 71,743,194 (GRCm39)	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,975,452 (GRCm39)	N98K	probably damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	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
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
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'- AATACACTGCATCCCTTCAGTGC -3'
(R):5'- TGAGGCCCATGTGCTACTAG -3'

Sequencing Primer
(F):5'- TCCCTTCAGTGCATATATAAAATTCC -3'
(R):5'- TGCTACTAGACAAGTGTGCC -3'

Posted On

2014-09-17