Mutagenetix > Incidental Mutation

Incidental Mutation 'R8264:Dnah14'

639711

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

A230079K17Rik, Dnahc14, Gm980, LOC381311

MMRRC Submission

067689-MU

Accession Numbers

Essential gene?

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

Stock #

R8264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181404158-181642306 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 181572357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 2896 (M2896K)

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: M2896K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,543 (GRCm39)	C911S	probably damaging	Het
Abcc4	T	A	14: 118,832,254 (GRCm39)	N792I	possibly damaging	Het
Acacb	A	T	5: 114,345,427 (GRCm39)	H960L	probably benign	Het
Aox1	A	G	1: 58,092,873 (GRCm39)	T162A	possibly damaging	Het
Cacna1g	T	C	11: 94,364,392 (GRCm39)	S18G	probably benign	Het
Chfr	T	A	5: 110,300,300 (GRCm39)	I348N	possibly damaging	Het
Cntln	G	A	4: 85,016,648 (GRCm39)	R12Q	probably damaging	Het
Cyp2c40	A	G	19: 39,795,971 (GRCm39)	S136P	possibly damaging	Het
Elp6	A	G	9: 110,148,755 (GRCm39)	T215A	probably damaging	Het
Esyt2	A	C	12: 116,329,540 (GRCm39)	Q699H	probably benign	Het
Fbxo25	A	G	8: 13,979,393 (GRCm39)	T204A	possibly damaging	Het
Fhdc1	A	G	3: 84,362,339 (GRCm39)	S294P	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Galnt10	A	G	11: 57,673,032 (GRCm39)	I463V	probably benign	Het
Glce	A	G	9: 61,967,712 (GRCm39)	F480L	probably benign	Het
H2-Aa	A	G	17: 34,506,709 (GRCm39)	V11A	probably benign	Het
Hsd17b4	A	G	18: 50,279,593 (GRCm39)	T191A	possibly damaging	Het
Itpr3	G	T	17: 27,323,086 (GRCm39)		silent	Het
Izumo4	G	T	10: 80,538,572 (GRCm39)	G8V		Het
Klk1b5	T	A	7: 43,869,454 (GRCm39)	L178H	probably damaging	Het
Lama2	T	C	10: 27,343,218 (GRCm39)	N85D	probably benign	Het
Liph	A	C	16: 21,802,721 (GRCm39)	I116R	possibly damaging	Het
Lpar5	T	A	6: 125,058,465 (GRCm39)	V62D	probably damaging	Het
Map3k19	T	A	1: 127,751,528 (GRCm39)	I303F		Het
Mymk	A	G	2: 26,957,868 (GRCm39)		probably benign	Het
Myo10	G	A	15: 25,800,195 (GRCm39)	V1424M	probably damaging	Het
Myof	T	G	19: 37,909,881 (GRCm39)	Q1528P	probably damaging	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Nup214	T	A	2: 31,884,738 (GRCm39)	Y500N	possibly damaging	Het
Or5al6	T	C	2: 85,976,538 (GRCm39)	D180G	probably damaging	Het
Pappa2	T	C	1: 158,682,543 (GRCm39)	Y835C	probably damaging	Het
Pcdh18	T	C	3: 49,711,030 (GRCm39)	E95G	probably damaging	Het
Phf3	A	T	1: 30,870,138 (GRCm39)	N303K	possibly damaging	Het
Pnn	C	T	12: 59,119,363 (GRCm39)	H649Y	unknown	Het
Rab11fip1	G	A	8: 27,642,508 (GRCm39)	Q764*	probably null	Het
Ralgapa2	A	T	2: 146,175,370 (GRCm39)	M1762K	possibly damaging	Het
Rif1	G	A	2: 51,980,290 (GRCm39)	A496T	noncoding transcript	Het
Rnase13	A	T	14: 52,159,914 (GRCm39)	V75D	probably damaging	Het
Sema3c	G	A	5: 17,881,537 (GRCm39)		probably benign	Het
Sema4c	C	G	1: 36,591,966 (GRCm39)	G266R	probably damaging	Het
Slfn5	A	T	11: 82,847,376 (GRCm39)	D87V	probably damaging	Het
Smpd3	T	C	8: 106,991,290 (GRCm39)	Y421C	probably damaging	Het
Snrnp40	T	C	4: 130,271,867 (GRCm39)	V188A	probably benign	Het
Srms	A	G	2: 180,854,343 (GRCm39)	Y75H	probably benign	Het
Tent2	C	T	13: 93,312,077 (GRCm39)	G208S	probably damaging	Het
Tex15	T	C	8: 34,072,390 (GRCm39)	S2646P	probably benign	Het
Togaram1	A	G	12: 65,042,330 (GRCm39)	I1130V	probably benign	Het
Ttf1	A	G	2: 28,954,689 (GRCm39)	K18E	possibly damaging	Het
Unc5b	G	T	10: 60,604,113 (GRCm39)	T827K	probably benign	Het
Zfhx2	T	A	14: 55,302,969 (GRCm39)	T1672S	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
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
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'- TGAGAGTTTAGAGATTTCAGATTAGGG -3'
(R):5'- GGTATAACTGGGATCCCACAAG -3'

Sequencing Primer
(F):5'- GGATTTGCTAAGCCAGGGTACC -3'
(R):5'- AAAGCAGTGTTCCTCCATGG -3'

Posted On

2020-07-28