Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:Kif19a'

74353

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: 0.173) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

114765388-114790739 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 114781799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115663 (fasta)

Gene Model

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

AlphaFold

Q99PT9

Predicted Effect

probably benign
Transcript: ENSMUST00000084368

SMART Domains

Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021

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

probably benign
Transcript: ENSMUST00000138804

SMART Domains

Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,945,064	V497E	probably damaging	Het
4930563D23Rik	T	C	16: 92,320,773	Y209C	probably benign	Het
Adcy7	T	G	8: 88,318,790		probably benign	Het
Aldh1a2	T	A	9: 71,285,966	F486I	possibly damaging	Het
Alox12	T	A	11: 70,254,549	H66L	probably benign	Het
Apoh	T	G	11: 108,397,361	Y102D	probably damaging	Het
Arl9	T	C	5: 77,006,554	V43A	possibly damaging	Het
Atf6	A	G	1: 170,788,606		probably null	Het
Atp4a	T	A	7: 30,713,250	I127N	possibly damaging	Het
AY358078	T	A	14: 51,805,709		probably benign	Het
Baat	T	G	4: 49,490,338	K249Q	probably damaging	Het
Brat1	C	T	5: 140,718,208	Q739*	probably null	Het
C8g	A	G	2: 25,499,077	F165L	probably damaging	Het
Cel	T	G	2: 28,557,955	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,710,979	T803K	unknown	Het
Cpxm1	A	G	2: 130,396,357	L95P	probably benign	Het
Ctsr	A	G	13: 61,162,675		probably benign	Het
Cyth1	A	G	11: 118,193,613		probably null	Het
Dync1h1	A	T	12: 110,616,692		probably benign	Het
Ezh1	C	T	11: 101,203,436	C407Y	probably damaging	Het
Gm3696	A	T	14: 7,090,701	W38R	probably benign	Het
Gm9611	T	C	14: 42,294,665	T39A	possibly damaging	Het
Gnpat	T	A	8: 124,878,633	L287H	probably damaging	Het
Golm1	G	T	13: 59,645,144	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,931,774	M899V	probably benign	Het
Hsf3	T	A	X: 96,314,972	M272L	probably benign	Het
Lcn2	T	G	2: 32,386,018	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,812,265	S180R	probably damaging	Het
Ly6h	A	G	15: 75,565,099		probably benign	Het
Macf1	T	C	4: 123,509,912	N705D	probably benign	Het
Mst1r	C	T	9: 107,907,844	P234S	probably benign	Het
Msto1	T	A	3: 88,910,632		probably null	Het
Myo5a	T	A	9: 75,187,538		probably benign	Het
Nipa1	T	C	7: 55,979,661	I235V	probably benign	Het
Nlgn3	T	C	X: 101,318,622	V399A	probably benign	Het
Olfr1367	A	G	13: 21,347,207	N93S	probably benign	Het
Olfr412	T	A	11: 74,364,912	M81K	possibly damaging	Het
Pih1d1	T	C	7: 45,159,975	S289P	probably benign	Het
Ppl	T	C	16: 5,087,644	N1596D	probably benign	Het
Psmb6	T	A	11: 70,526,586	S114R	possibly damaging	Het
Pum1	C	A	4: 130,730,543	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,355,251	I75V	probably benign	Het
Slc24a3	T	A	2: 145,602,558	I284N	probably benign	Het
Slc44a3	C	T	3: 121,527,193	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,629,405	D736A	probably benign	Het
Stra6	A	G	9: 58,152,571	D605G	probably benign	Het
Tas2r126	T	A	6: 42,434,750	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,653,112	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,720,702	G14R	probably benign	Het
Ticrr	C	T	7: 79,694,461	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,348,479	N518K	probably benign	Het
Trpm4	C	A	7: 45,315,073	W533C	probably damaging	Het
Tsen54	T	C	11: 115,821,712	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,327,634	T219M	probably damaging	Het
Usp19	T	C	9: 108,498,961	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,437,696	Y43F	probably benign	Het
Vsig1	T	A	X: 140,937,680	V283E	possibly 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
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
IGL02830:Kif19a	APN	11	114781208	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
R7782:Kif19a	UTSW	11	114781922	missense	probably damaging	1.00
R8473:Kif19a	UTSW	11	114787551	missense	probably damaging	1.00
R8712:Kif19a	UTSW	11	114784773	missense	probably damaging	1.00
R9332:Kif19a	UTSW	11	114789207	missense	possibly damaging	0.49
Z1176:Kif19a	UTSW	11	114786590	missense	probably damaging	1.00
Z1176:Kif19a	UTSW	11	114789829	missense	probably benign	0.12
Z1177:Kif19a	UTSW	11	114781315	missense	probably benign	0.33
Z1177:Kif19a	UTSW	11	114784904	missense	probably benign	0.33

Posted On

2013-10-07