Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02830:Kif19a'

361395

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif19a

Ensembl Gene

ENSMUSG00000010021

Gene Name

kinesin family member 19A

Synonyms

N-8 kinesin

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL02830

Quality Score

Status

Chromosome

Chromosomal Location

114765388-114790739 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114781208 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 207 (T207M)

Ref Sequence

ENSEMBL: ENSMUSP00000081398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084368] [ENSMUST00000138804]

Predicted Effect

probably damaging
Transcript: ENSMUST00000084368
AA Change: T207M

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

SMART Domains

Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: T207M

Domain	Start	End	E-Value	Type
KISc	9	354	4.53e-150	SMART
coiled coil region	361	388	N/A	INTRINSIC
coiled coil region	431	449	N/A	INTRINSIC
coiled coil region	506	551	N/A	INTRINSIC
low complexity region	628	641	N/A	INTRINSIC
low complexity region	750	766	N/A	INTRINSIC
low complexity region	807	815	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137326

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: T165M

Domain	Start	End	E-Value	Type
KISc	9	312	2.99e-118	SMART
coiled coil region	319	346	N/A	INTRINSIC
coiled coil region	389	407	N/A	INTRINSIC
coiled coil region	464	509	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	683	692	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality, hydroencephaly, female infertility, oviduct obstruction, increased motile cilium length and impaired motile cilium movement. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,037,426	E67D	possibly damaging	Het
9530053A07Rik	C	A	7: 28,162,923	H2471Q	probably damaging	Het
Acad11	T	A	9: 104,075,919	F116I	probably damaging	Het
Acox2	G	A	14: 8,255,298	T160I	probably damaging	Het
Anxa7	A	T	14: 20,456,540	M444K	possibly damaging	Het
Atg2a	A	G	19: 6,247,681	D423G	probably benign	Het
Cela3a	T	C	4: 137,401,635	N282S	probably benign	Het
Cyp2c50	G	A	19: 40,098,056	V296I	probably benign	Het
Fgd3	A	G	13: 49,264,631		probably benign	Het
Gimap8	G	A	6: 48,656,305	A353T	probably benign	Het
Grin3a	T	A	4: 49,702,787	M900L	possibly damaging	Het
H1f0	T	G	15: 79,029,311		probably benign	Het
Heatr1	T	C	13: 12,426,212	V1456A	possibly damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Kbtbd3	T	A	9: 4,330,096	S157T	possibly damaging	Het
Klc1	T	C	12: 111,776,907	Y223H	probably damaging	Het
Klhl33	C	T	14: 50,891,757	V672M	probably damaging	Het
Lrrc49	G	A	9: 60,685,110	L34F	probably damaging	Het
Nalcn	C	T	14: 123,293,469	V1386I	probably damaging	Het
Olfr142	A	T	2: 90,252,781	I69N	probably damaging	Het
Olfr201	A	G	16: 59,269,053	S205P	possibly damaging	Het
Olfr292	T	G	7: 86,695,174	C239W	probably damaging	Het
Olfr65	C	T	7: 103,906,444	P2S	probably benign	Het
Orc5	A	T	5: 22,529,267	L173Q	probably damaging	Het
Otud4	T	G	8: 79,673,301	D880E	probably benign	Het
Pde12	T	C	14: 26,668,585	Y323C	probably damaging	Het
Pde8b	G	T	13: 95,052,901	D198E	probably benign	Het
Prom2	T	A	2: 127,535,069	I542F	possibly damaging	Het
Ptprj	G	A	2: 90,453,144	T952I	probably benign	Het
Ribc2	T	A	15: 85,132,257		probably benign	Het
Sec31b	C	T	19: 44,531,703	R214K	probably damaging	Het
Senp5	G	A	16: 31,983,485		probably benign	Het
Sh3pxd2a	G	A	19: 47,283,078	R249W	probably damaging	Het
Sorcs3	G	A	19: 48,723,002		probably null	Het
Spata31d1c	A	G	13: 65,035,366	T241A	probably benign	Het
Tac1	G	A	6: 7,555,650	V13I	probably benign	Het
Tnnc2	T	A	2: 164,777,510	D138V	probably null	Het
Tspan32	T	A	7: 143,017,592	M159K	possibly damaging	Het
Tsta3	C	T	15: 75,925,588	V275I	probably benign	Het
Ttc28	A	T	5: 111,286,239	T2380S	probably benign	Het
Ubc	T	A	5: 125,387,313	I317F	probably damaging	Het
Usp24	T	C	4: 106,347,387	S268P	possibly damaging	Het
Vmn2r91	C	A	17: 18,136,622	H850Q	probably benign	Het
Xrn1	T	C	9: 96,018,181		probably null	Het
Zfp329	A	C	7: 12,810,116	C494G	probably damaging	Het
Zfp54	T	C	17: 21,433,456	S71P	probably damaging	Het

Other mutations in Kif19a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Kif19a	APN	11	114779585	missense	probably damaging	1.00
IGL00743:Kif19a	APN	11	114784773	missense	probably damaging	1.00
IGL00763:Kif19a	APN	11	114767168	missense	probably benign	0.00
IGL01327:Kif19a	APN	11	114781799	splice site	probably benign
IGL02422:Kif19a	APN	11	114789361	missense	probably damaging	1.00
IGL02481:Kif19a	APN	11	114789153	missense	probably benign	0.28
IGL02496:Kif19a	APN	11	114779644	missense	probably damaging	0.99
IGL02735:Kif19a	APN	11	114785567	missense	probably damaging	1.00
IGL02902:Kif19a	APN	11	114785570	missense	possibly damaging	0.46
IGL03372:Kif19a	APN	11	114779218	missense	probably damaging	0.99
PIT4520001:Kif19a	UTSW	11	114781208	missense	probably damaging	1.00
R0212:Kif19a	UTSW	11	114784910	missense	possibly damaging	0.48
R0383:Kif19a	UTSW	11	114765514	start codon destroyed	possibly damaging	0.63
R0850:Kif19a	UTSW	11	114780787	missense	probably damaging	0.99
R1343:Kif19a	UTSW	11	114785827	missense	probably benign	0.08
R1422:Kif19a	UTSW	11	114785809	missense	probably benign	0.01
R1547:Kif19a	UTSW	11	114786572	missense	probably benign	0.41
R1591:Kif19a	UTSW	11	114789231	missense	probably benign
R2148:Kif19a	UTSW	11	114780768	missense	probably damaging	1.00
R2291:Kif19a	UTSW	11	114790193	missense	probably damaging	1.00
R3814:Kif19a	UTSW	11	114781919	missense	probably damaging	1.00
R3944:Kif19a	UTSW	11	114786735	missense	probably benign	0.34
R4631:Kif19a	UTSW	11	114784847	missense	possibly damaging	0.95
R4866:Kif19a	UTSW	11	114767227	missense	probably benign	0.00
R4867:Kif19a	UTSW	11	114767227	missense	probably benign	0.00
R5022:Kif19a	UTSW	11	114767227	missense	probably benign	0.00
R5071:Kif19a	UTSW	11	114767227	missense	probably benign	0.00
R5072:Kif19a	UTSW	11	114767227	missense	probably benign	0.00
R5073:Kif19a	UTSW	11	114767227	missense	probably benign	0.00
R5074:Kif19a	UTSW	11	114767227	missense	probably benign	0.00
R5091:Kif19a	UTSW	11	114783097	missense	probably damaging	1.00
R5640:Kif19a	UTSW	11	114779215	missense	probably benign	0.25
R5646:Kif19a	UTSW	11	114779654	missense	probably damaging	1.00
R5786:Kif19a	UTSW	11	114779223	nonsense	probably null
R5890:Kif19a	UTSW	11	114789438	missense	possibly damaging	0.92
R6344:Kif19a	UTSW	11	114781951	critical splice donor site	probably null
R6522:Kif19a	UTSW	11	114785779	missense	probably damaging	1.00
R6570:Kif19a	UTSW	11	114784905	missense	possibly damaging	0.63
R6879:Kif19a	UTSW	11	114781333	missense	probably benign	0.03
R7028:Kif19a	UTSW	11	114781208	missense	probably damaging	1.00
R7274:Kif19a	UTSW	11	114765455	start gained	probably benign
R7492:Kif19a	UTSW	11	114790239	missense	probably benign	0.36

Posted On

2015-12-18