Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02393:Kif26a'

293906

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif26a

Ensembl Gene

ENSMUSG00000021294

Gene Name

kinesin family member 26A

Synonyms

N-11 kinesin

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02393

Quality Score

Status

Chromosome

Chromosomal Location

112146208-112181747 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112172664 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 396 (V396M)

Ref Sequence

ENSEMBL: ENSMUSP00000119482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000128402]

Predicted Effect

probably damaging
Transcript: ENSMUST00000128402
AA Change: V396M

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

SMART Domains

Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: V396M

Domain	Start	End	E-Value	Type
low complexity region	238	248	N/A	INTRINSIC
low complexity region	279	297	N/A	INTRINSIC
KISc	362	726	9.57e-35	SMART
low complexity region	727	739	N/A	INTRINSIC
low complexity region	740	754	N/A	INTRINSIC
low complexity region	932	957	N/A	INTRINSIC
low complexity region	1005	1012	N/A	INTRINSIC
low complexity region	1044	1054	N/A	INTRINSIC
low complexity region	1084	1095	N/A	INTRINSIC
low complexity region	1328	1360	N/A	INTRINSIC
low complexity region	1458	1471	N/A	INTRINSIC
low complexity region	1477	1493	N/A	INTRINSIC
low complexity region	1519	1538	N/A	INTRINSIC
low complexity region	1574	1587	N/A	INTRINSIC
low complexity region	1664	1675	N/A	INTRINSIC
low complexity region	1699	1713	N/A	INTRINSIC
coiled coil region	1780	1812	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,687,368	I253M	probably damaging	Het
Adam32	A	T	8: 24,920,053	Y129N	probably damaging	Het
Afap1l2	T	C	19: 56,914,440	K695R	probably damaging	Het
Arhgap18	T	G	10: 26,877,183	S357R	probably benign	Het
Camsap1	T	C	2: 25,938,322	H1130R	probably benign	Het
Cdkl4	A	G	17: 80,560,415	F35L	probably damaging	Het
Crnn	A	G	3: 93,149,368	H487R	probably damaging	Het
Dcaf4	C	T	12: 83,530,031	P95L	probably damaging	Het
Deaf1	A	T	7: 141,313,333	V382E	possibly damaging	Het
Dph7	T	G	2: 24,966,597	V187G	possibly damaging	Het
Fat3	G	T	9: 15,988,412	C3108*	probably null	Het
Ggt5	T	C	10: 75,610,237		probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mterf4	C	T	1: 93,302,879	V182I	possibly damaging	Het
Nsg1	T	C	5: 38,158,911	D32G	probably damaging	Het
Olfr175-ps1	A	G	16: 58,824,046	I221T	probably damaging	Het
Olfr788	T	C	10: 129,473,195	S168P	probably damaging	Het
Olfr808	T	A	10: 129,767,793	V99E	probably benign	Het
P3h2	T	C	16: 25,992,825	Y216C	probably damaging	Het
Pdzd9	A	C	7: 120,662,983	Y85*	probably null	Het
Prkdc	T	A	16: 15,816,758	V3589D	probably benign	Het
Qars	A	G	9: 108,514,329	T26A	probably benign	Het
Rhd	T	C	4: 134,884,095	S189P	probably benign	Het
Rhobtb1	A	T	10: 69,288,987	H555L	probably damaging	Het
Rogdi	G	A	16: 5,009,224	S306F	probably benign	Het
Slc25a25	C	T	2: 32,417,843	V259I	probably benign	Het
Srrm1	A	T	4: 135,321,414		probably benign	Het
Stkld1	T	C	2: 26,950,142	V408A	probably benign	Het
Thbs1	T	C	2: 118,123,099	V999A	possibly damaging	Het
Tmprss11d	T	A	5: 86,303,612	*280L	probably null	Het
Trim54	A	G	5: 31,131,980		probably benign	Het
Tspear	G	A	10: 77,836,573	R202H	probably damaging	Het
Vwa8	G	A	14: 79,182,977	G1706D	probably damaging	Het

Other mutations in Kif26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Kif26a	APN	12	112157632	missense	probably damaging	0.97
IGL01734:Kif26a	APN	12	112176828	missense	probably benign	0.23
IGL01916:Kif26a	APN	12	112176894	missense	possibly damaging	0.49
IGL02080:Kif26a	APN	12	112157566	missense	probably damaging	1.00
IGL02138:Kif26a	APN	12	112174850	missense	probably damaging	1.00
IGL02145:Kif26a	APN	12	112176975	missense	probably benign	0.00
IGL02285:Kif26a	APN	12	112157507	missense	probably damaging	1.00
IGL02445:Kif26a	APN	12	112173743	missense	probably damaging	1.00
IGL02865:Kif26a	APN	12	112177615	nonsense	probably null
IGL03057:Kif26a	APN	12	112175774	nonsense	probably null
IGL03204:Kif26a	APN	12	112174779	missense	probably damaging	1.00
R0013:Kif26a	UTSW	12	112177880	missense	probably benign	0.03
R0034:Kif26a	UTSW	12	112168963	splice site	probably benign
R0089:Kif26a	UTSW	12	112177403	missense	probably damaging	0.98
R0111:Kif26a	UTSW	12	112163337	splice site	probably benign
R0220:Kif26a	UTSW	12	112157390	missense	probably damaging	0.98
R0346:Kif26a	UTSW	12	112179348	missense	probably null	0.09
R0383:Kif26a	UTSW	12	112178076	missense	possibly damaging	0.94
R0478:Kif26a	UTSW	12	112175789	missense	probably damaging	1.00
R0494:Kif26a	UTSW	12	112179471	splice site	probably null
R1163:Kif26a	UTSW	12	112179945	missense	probably benign	0.08
R1450:Kif26a	UTSW	12	112173852	missense	probably damaging	1.00
R1512:Kif26a	UTSW	12	112146955	missense	possibly damaging	0.47
R1616:Kif26a	UTSW	12	112157246	critical splice acceptor site	probably null
R1723:Kif26a	UTSW	12	112173858	missense	possibly damaging	0.67
R1728:Kif26a	UTSW	12	112176785	missense	possibly damaging	0.95
R1729:Kif26a	UTSW	12	112176785	missense	possibly damaging	0.95
R1903:Kif26a	UTSW	12	112175540	missense	probably damaging	1.00
R2283:Kif26a	UTSW	12	112177353	missense	possibly damaging	0.66
R3862:Kif26a	UTSW	12	112179889	missense	probably benign	0.30
R3906:Kif26a	UTSW	12	112176890	missense	probably benign
R4050:Kif26a	UTSW	12	112179916	missense	probably benign	0.08
R4270:Kif26a	UTSW	12	112173414	missense	probably damaging	1.00
R4271:Kif26a	UTSW	12	112173414	missense	probably damaging	1.00
R4731:Kif26a	UTSW	12	112175573	missense	probably benign
R4732:Kif26a	UTSW	12	112175573	missense	probably benign
R4733:Kif26a	UTSW	12	112175573	missense	probably benign
R4908:Kif26a	UTSW	12	112157342	missense	probably damaging	1.00
R4946:Kif26a	UTSW	12	112177794	missense	probably damaging	0.99
R5566:Kif26a	UTSW	12	112157354	missense	probably damaging	1.00
R6280:Kif26a	UTSW	12	112174869	missense	probably damaging	0.99
R6422:Kif26a	UTSW	12	112168875	missense	possibly damaging	0.95
R6513:Kif26a	UTSW	12	112175492	missense	probably damaging	0.97
R6860:Kif26a	UTSW	12	112146829	missense	probably damaging	1.00
R6879:Kif26a	UTSW	12	112177653	missense	probably benign
R7127:Kif26a	UTSW	12	112178145	missense	probably damaging	1.00
R7366:Kif26a	UTSW	12	112163542	critical splice donor site	probably null
R7595:Kif26a	UTSW	12	112179325	missense	probably benign	0.30
R7630:Kif26a	UTSW	12	112175697	missense	probably damaging	1.00
R7784:Kif26a	UTSW	12	112178147	missense	possibly damaging	0.66
R7992:Kif26a	UTSW	12	112176047	missense	probably benign
R8170:Kif26a	UTSW	12	112175318	splice site	probably null
X0027:Kif26a	UTSW	12	112176070	missense	probably benign	0.26
Z1176:Kif26a	UTSW	12	112177618	missense	probably damaging	0.97
Z1177:Kif26a	UTSW	12	112177611	missense	probably damaging	0.98

Posted On

2015-04-16