Mutagenetix > Incidental Mutation

Incidental Mutation 'R9578:Dnah14'

722392

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

Dnahc14, Gm980, LOC381311, A230079K17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R9578 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181674442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1770 (F1770L)

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: F1770L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 105,709,873 (GRCm38)	G234S	probably damaging	Het
Aipl1	C	T	11: 72,037,427 (GRCm38)	G11D	probably damaging	Het
Aldh8a1	A	G	10: 21,377,382 (GRCm38)	I14M	probably damaging	Het
Arhgap11a	A	G	2: 113,839,780 (GRCm38)	S333P	possibly damaging	Het
Atp1b3	A	T	9: 96,338,701 (GRCm38)	D180E	probably benign	Het
B3gnt8	T	C	7: 25,628,664 (GRCm38)	L173P	probably damaging	Het
Cabin1	A	G	10: 75,754,351 (GRCm38)	F37S	probably damaging	Het
Carmil3	G	T	14: 55,503,836 (GRCm38)		probably null	Het
Cfi	G	T	3: 129,865,375 (GRCm38)	M327I	probably benign	Het
Cltc	G	A	11: 86,702,411 (GRCm38)	S1542F	probably benign	Het
Col7a1	G	A	9: 108,960,282 (GRCm38)	G854D	unknown	Het
Cux1	A	T	5: 136,254,065 (GRCm38)		probably null	Het
Dcdc2c	G	T	12: 28,552,235 (GRCm38)	N23K	probably damaging	Het
Dclre1a	A	G	19: 56,540,302 (GRCm38)	I807T	probably damaging	Het
Dnajc13	A	G	9: 104,238,527 (GRCm38)	F28L	probably benign	Het
Dtna	A	G	18: 23,595,555 (GRCm38)	D269G	probably damaging	Het
Dusp4	G	T	8: 34,807,668 (GRCm38)		probably benign	Het
Ece1	T	C	4: 137,913,822 (GRCm38)	S19P	probably benign	Het
Gas1	T	C	13: 60,176,091 (GRCm38)	D243G	possibly damaging	Het
Ggnbp2	A	G	11: 84,854,163 (GRCm38)	C178R	probably benign	Het
Gm12185	T	A	11: 48,915,581 (GRCm38)	N261I	probably benign	Het
Grm4	A	T	17: 27,450,209 (GRCm38)	F362I	possibly damaging	Het
Icos	T	A	1: 60,993,712 (GRCm38)	N23K	probably benign	Het
Kcnk2	CAAA	CAA	1: 189,256,694 (GRCm38)		probably null	Het
Krt5	T	C	15: 101,711,718 (GRCm38)	K188R	probably damaging	Het
Mindy3	C	T	2: 12,356,904 (GRCm38)		probably null	Het
Ncdn	C	T	4: 126,752,002 (GRCm38)	R38H	probably damaging	Het
Nol9	A	G	4: 152,041,249 (GRCm38)	K219R	probably benign	Het
Opalin	A	T	19: 41,072,229 (GRCm38)	S2R	probably damaging	Het
Or8g35	A	T	9: 39,469,905 (GRCm38)	S274T	probably damaging	Het
Pask	G	A	1: 93,335,668 (GRCm38)	S122L	probably benign	Het
Pcdha11	T	C	18: 37,007,123 (GRCm38)	S602P	probably damaging	Het
Pclo	A	G	5: 14,766,739 (GRCm38)	K1271R		Het
Piezo1	T	C	8: 122,497,475 (GRCm38)	H763R		Het
Pigr	A	G	1: 130,849,613 (GRCm38)	K719E	probably benign	Het
Piwil4	A	T	9: 14,727,494 (GRCm38)	V245E	probably damaging	Het
Plcb4	A	G	2: 135,987,524 (GRCm38)	M925V	probably benign	Het
Pomt1	G	A	2: 32,243,531 (GRCm38)		probably null	Het
Pou2f2	C	A	7: 25,097,144 (GRCm38)	A302S	probably benign	Het
Rapgef4	A	T	2: 72,195,708 (GRCm38)	H359L	probably damaging	Het
Rfesd	C	T	13: 76,008,180 (GRCm38)	V36I	possibly damaging	Het
Rims1	G	A	1: 22,484,742 (GRCm38)	T421M	probably damaging	Het
Serpinf2	T	A	11: 75,436,789 (GRCm38)	H150L	probably benign	Het
Syt10	A	T	15: 89,790,919 (GRCm38)	M408K	possibly damaging	Het
Tcea1	T	A	1: 4,890,798 (GRCm38)		probably null	Het
Tia1	T	C	6: 86,430,365 (GRCm38)	*387R	probably null	Het
Top3a	A	C	11: 60,756,691 (GRCm38)	V186G	probably damaging	Het
Upk3b	T	A	5: 136,038,882 (GRCm38)	S27R	unknown	Het
Usp18	A	G	6: 121,262,767 (GRCm38)	S274G	probably benign	Het
Vmn1r230	C	A	17: 20,846,901 (GRCm38)	C117*	probably null	Het
Vmn1r72	T	C	7: 11,670,420 (GRCm38)	I34V	probably benign	Het
Vmn2r74	T	C	7: 85,956,893 (GRCm38)	D415G	probably benign	Het
Zfp54	A	G	17: 21,434,924 (GRCm38)	Y560C	probably 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
R6454:Dnah14	UTSW	1	181,783,705 (GRCm38)	missense	probably damaging	1.00
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
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'- GGCACAGCAGTAGACCATTG -3'
(R):5'- ATCTCATGTCATCGCGGCTC -3'

Sequencing Primer
(F):5'- AAGGCCCTGGGTTCTGTC -3'
(R):5'- ATGTCATCGCGGCTCTCTCC -3'

Posted On

2022-08-09