Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00743:Kif19a'

11616

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: 0.140) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

114765388-114790739 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114784773 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 357 (V357A)

Ref Sequence

ENSEMBL: ENSMUSP00000081398 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000084368
AA Change: V357A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: V357A

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: ENSMUST00000134165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137326

Predicted Effect

probably benign
Transcript: ENSMUST00000138340

SMART Domains

Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138804
AA Change: V315A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: V315A

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,619,686	E659G	probably benign	Het
Adgrg6	A	C	10: 14,535,959		probably benign	Het
Als2cl	A	G	9: 110,889,159	K323E	possibly damaging	Het
Atm	A	C	9: 53,513,116	S628R	probably benign	Het
Baz2a	T	C	10: 128,114,526	V443A	probably benign	Het
Bclaf3	T	A	X: 159,558,361	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,145,444		probably benign	Het
Cdh20	A	G	1: 104,947,428	T312A	probably benign	Het
Chrnd	G	A	1: 87,192,927	W91*	probably null	Het
Cntln	T	C	4: 84,979,415	F413S	probably benign	Het
Ctsq	A	T	13: 61,036,184	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,617,535	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,162,780	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hps6	A	T	19: 46,003,660	D12V	probably damaging	Het
Hpse	T	C	5: 100,698,999	D188G	probably benign	Het
Id2	C	A	12: 25,095,356	E123*	probably null	Het
Ints10	C	T	8: 68,819,333	P562L	probably damaging	Het
Kctd10	G	A	5: 114,367,349	R195C	probably damaging	Het
Kel	A	C	6: 41,688,575	L537R	probably damaging	Het
Lrrtm3	A	T	10: 64,089,209	S60T	probably damaging	Het
Myof	C	A	19: 37,960,934	R608L	probably benign	Het
Naa35	A	T	13: 59,630,671	I669F	probably benign	Het
Olfr968	A	G	9: 39,772,111	S230P	possibly damaging	Het
Olfr971	A	T	9: 39,839,706	I91F	probably benign	Het
Pclo	G	T	5: 14,678,021		probably benign	Het
Pik3c3	C	T	18: 30,274,364	S55F	probably damaging	Het
Prdm6	T	G	18: 53,540,228	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,428,373	T63A	probably benign	Het
Samd4b	A	C	7: 28,401,877	I108S	probably damaging	Het
Slc9a7	T	C	X: 20,106,021	D708G	possibly damaging	Het
Stim2	A	G	5: 54,053,493	D90G	probably benign	Het
Tmem52b	A	G	6: 129,516,715	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,734,281	R98G	probably benign	Het
Uxs1	C	T	1: 43,757,013	V310I	probably benign	Het
Vcan	A	C	13: 89,725,306	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,326,242	F792S	probably damaging	Het
Zfp455	T	C	13: 67,207,898	I345T	probably benign	Het
Zfp938	A	T	10: 82,226,483	M101K	probably benign	Het
Zkscan2	A	G	7: 123,479,972	S921P	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
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
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
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

2012-12-06