Mutagenetix > Incidental Mutation

Incidental Mutation 'R8834:Dnah14'

674015

Institutional Source

Beutler Lab

Gene Symbol

Dnah14

Ensembl Gene

ENSMUSG00000047369

Gene Name

dynein, axonemal, heavy chain 14

Synonyms

Dnahc14, Gm980, LOC381311, A230079K17Rik

MMRRC Submission

068662-MU

Accession Numbers

Essential gene?

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

Stock #

R8834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181576559-181815774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 181616750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 542 (F542V)

Ref Sequence

ENSEMBL: ENSMUSP00000146843 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208001
AA Change: F542V

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 120,278,149 (GRCm38)	T1007A	probably benign	Het
Adcy6	A	G	15: 98,601,041 (GRCm38)	L293P	possibly damaging	Het
Cacna2d1	T	A	5: 16,266,737 (GRCm38)	V260E	possibly damaging	Het
Capn3	T	A	2: 120,464,053 (GRCm38)	F61I	probably damaging	Het
Cdh9	A	G	15: 16,850,878 (GRCm38)	S578G	probably damaging	Het
Cog4	A	G	8: 110,881,417 (GRCm38)	Y714C	probably damaging	Het
Dock8	T	C	19: 25,163,470 (GRCm38)	V1350A	probably benign	Het
Eps8	A	G	6: 137,527,308 (GRCm38)		probably benign	Het
Fat3	C	T	9: 16,031,197 (GRCm38)	G1293E	probably damaging	Het
Fnip1	T	C	11: 54,504,755 (GRCm38)	V985A	possibly damaging	Het
Frem1	T	C	4: 83,004,373 (GRCm38)	D397G	probably damaging	Het
Gan	C	G	8: 117,158,292 (GRCm38)	P53R		Het
Gcc2	T	C	10: 58,286,045 (GRCm38)		probably null	Het
Glb1l2	C	T	9: 26,778,018 (GRCm38)		probably null	Het
Gm973	T	C	1: 59,524,661 (GRCm38)	F2L		Het
Heatr5a	A	G	12: 51,909,956 (GRCm38)		probably null	Het
Kifc2	T	A	15: 76,667,050 (GRCm38)	H681Q	probably damaging	Het
Krt16	T	A	11: 100,248,410 (GRCm38)	S161C	probably damaging	Het
Lrrc3b	A	G	14: 15,358,562 (GRCm38)	C15R	possibly damaging	Het
Lrrc66	C	G	5: 73,608,585 (GRCm38)	A372P	possibly damaging	Het
Ly75	C	T	2: 60,331,089 (GRCm38)	R884H	probably benign	Het
Map2k6	T	A	11: 110,492,593 (GRCm38)	C109*	probably null	Het
Mapk9	C	T	11: 49,883,183 (GRCm38)	S389L	probably damaging	Het
Mier2	C	T	10: 79,550,459 (GRCm38)	G57D	unknown	Het
Mis18bp1	A	T	12: 65,161,645 (GRCm38)	M98K	probably benign	Het
Mrtfa	A	G	15: 81,020,310 (GRCm38)	L196P	probably benign	Het
Or1e17	T	C	11: 73,940,338 (GRCm38)	F31L	possibly damaging	Het
Pcsk7	A	G	9: 45,919,291 (GRCm38)	S456G	possibly damaging	Het
Phf12	T	A	11: 78,006,782 (GRCm38)	C102S	probably damaging	Het
Ppm1k	A	G	6: 57,525,038 (GRCm38)	C47R	probably benign	Het
Rgs10	A	G	7: 128,389,085 (GRCm38)	I93T	probably damaging	Het
Ror2	CCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTC	13: 53,110,302 (GRCm38)		probably benign	Het
Rusc2	T	A	4: 43,416,431 (GRCm38)	F579Y	possibly damaging	Het
Selplg	G	A	5: 113,819,630 (GRCm38)	S205L	possibly damaging	Het
Sh3gl3	T	C	7: 82,306,791 (GRCm38)	V109A	possibly damaging	Het
Tanc2	T	C	11: 105,917,019 (GRCm38)	S336P		Het
Tlr2	C	A	3: 83,838,713 (GRCm38)	R21L	probably benign	Het
Trpa1	C	T	1: 14,893,304 (GRCm38)	V565I	possibly damaging	Het
Ubqln1	A	T	13: 58,183,244 (GRCm38)	S390T	probably damaging	Het
Ubr3	T	C	2: 70,003,441 (GRCm38)	V1514A	probably benign	Het
Uchl5	A	T	1: 143,786,230 (GRCm38)	K81*	probably null	Het
Unc13b	T	C	4: 43,175,954 (GRCm38)	F2261L	unknown	Het
Usp12	T	A	5: 146,754,517 (GRCm38)	E142D	probably benign	Het
V1ra8	A	T	6: 90,203,640 (GRCm38)	D275V	unknown	Het
Zfp804a	A	G	2: 82,259,097 (GRCm38)	H1090R	possibly 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
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
R9578:Dnah14	UTSW	1	181,674,442 (GRCm38)	missense	probably benign	0.16
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'- AGGCTCAGCGATTGATTCTCAG -3'
(R):5'- AGCACTGGGACTCATGATCTC -3'

Sequencing Primer
(F):5'- CAGCGATTGATTCTCAGGTTATTTAG -3'
(R):5'- GAAGGCACCAAGCCTTTT -3'

Posted On

2021-07-15