Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00233:Kif26a'

306842

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00233

Quality Score

Status

Chromosome

Chromosomal Location

112112642-112148181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112124066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 224 (S224G)

Ref Sequence

ENSEMBL: ENSMUSP00000119482 (fasta)

Gene Model

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

AlphaFold

Q52KG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000128402
AA Change: S224G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: S224G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aimp1	A	T	3: 132,382,904 (GRCm39)		probably benign	Het
Arpc5	A	G	1: 152,644,658 (GRCm39)	I64V	probably benign	Het
C030048H21Rik	G	A	2: 26,146,632 (GRCm39)	R1227W	probably damaging	Het
Cacnb1	T	C	11: 97,913,190 (GRCm39)	E21G	possibly damaging	Het
Catsper3	A	G	13: 55,946,635 (GRCm39)	K111E	possibly damaging	Het
Cda	T	C	4: 138,095,157 (GRCm39)	Y33C	probably damaging	Het
Celsr3	A	T	9: 108,726,124 (GRCm39)	R3118W	probably damaging	Het
Clvs1	G	A	4: 9,281,939 (GRCm39)	G128R	probably damaging	Het
Col9a1	A	G	1: 24,224,306 (GRCm39)	S163G	unknown	Het
Cyp4v3	T	C	8: 45,760,040 (GRCm39)	D64G	probably benign	Het
Dst	C	A	1: 34,290,920 (GRCm39)	L837M	probably damaging	Het
Eif2ak4	T	A	2: 118,294,536 (GRCm39)	I1349N	probably damaging	Het
Elob	C	A	17: 24,043,954 (GRCm39)		probably null	Het
Glipr1	T	A	10: 111,821,555 (GRCm39)	I216L	probably benign	Het
Gm3238	C	T	10: 77,607,126 (GRCm39)		probably benign	Het
Gm43638	C	T	5: 87,608,258 (GRCm39)	R527H	probably damaging	Het
H2-M11	A	G	17: 36,858,445 (GRCm39)	K80E	probably benign	Het
Htt	A	G	5: 35,053,370 (GRCm39)		probably null	Het
Mgat5b	T	A	11: 116,822,488 (GRCm39)	M74K	probably damaging	Het
Ms4a7	A	T	19: 11,299,724 (GRCm39)	V89D	probably damaging	Het
Nlrx1	G	A	9: 44,175,365 (GRCm39)	T137I	probably benign	Het
Pcdhb12	A	G	18: 37,570,035 (GRCm39)	T394A	probably benign	Het
Pkhd1l1	T	C	15: 44,340,982 (GRCm39)	I151T	probably damaging	Het
Plcl1	T	C	1: 55,445,695 (GRCm39)	V50A	probably benign	Het
Prkd2	T	C	7: 16,599,787 (GRCm39)	F750S	probably damaging	Het
Psmd13	T	C	7: 140,477,534 (GRCm39)	V311A	probably damaging	Het
Rec8	C	T	14: 55,860,972 (GRCm39)	Q334*	probably null	Het
Rfx7	G	A	9: 72,514,972 (GRCm39)	V157I	probably damaging	Het
Sele	G	A	1: 163,879,403 (GRCm39)	C312Y	probably damaging	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tma16	G	T	8: 66,933,097 (GRCm39)	Q95K	probably benign	Het
Vmn1r191	T	C	13: 22,362,890 (GRCm39)	D288G	probably damaging	Het
Vmn1r231	A	T	17: 21,110,828 (GRCm39)	I29N	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,389 (GRCm39)	L750*	probably null	Het

Other mutations in Kif26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Kif26a	APN	12	112,143,262 (GRCm39)	missense	probably benign	0.23
IGL01916:Kif26a	APN	12	112,143,328 (GRCm39)	missense	possibly damaging	0.49
IGL02080:Kif26a	APN	12	112,124,000 (GRCm39)	missense	probably damaging	1.00
IGL02138:Kif26a	APN	12	112,141,284 (GRCm39)	missense	probably damaging	1.00
IGL02145:Kif26a	APN	12	112,143,409 (GRCm39)	missense	probably benign	0.00
IGL02285:Kif26a	APN	12	112,123,941 (GRCm39)	missense	probably damaging	1.00
IGL02393:Kif26a	APN	12	112,139,098 (GRCm39)	missense	probably damaging	1.00
IGL02445:Kif26a	APN	12	112,140,177 (GRCm39)	missense	probably damaging	1.00
IGL02865:Kif26a	APN	12	112,144,049 (GRCm39)	nonsense	probably null
IGL03057:Kif26a	APN	12	112,142,208 (GRCm39)	nonsense	probably null
IGL03204:Kif26a	APN	12	112,141,213 (GRCm39)	missense	probably damaging	1.00
R0013:Kif26a	UTSW	12	112,144,314 (GRCm39)	missense	probably benign	0.03
R0034:Kif26a	UTSW	12	112,135,397 (GRCm39)	splice site	probably benign
R0089:Kif26a	UTSW	12	112,143,837 (GRCm39)	missense	probably damaging	0.98
R0111:Kif26a	UTSW	12	112,129,771 (GRCm39)	splice site	probably benign
R0220:Kif26a	UTSW	12	112,123,824 (GRCm39)	missense	probably damaging	0.98
R0346:Kif26a	UTSW	12	112,145,782 (GRCm39)	missense	probably null	0.09
R0383:Kif26a	UTSW	12	112,144,510 (GRCm39)	missense	possibly damaging	0.94
R0478:Kif26a	UTSW	12	112,142,223 (GRCm39)	missense	probably damaging	1.00
R0494:Kif26a	UTSW	12	112,145,905 (GRCm39)	splice site	probably null
R1163:Kif26a	UTSW	12	112,146,379 (GRCm39)	missense	probably benign	0.08
R1450:Kif26a	UTSW	12	112,140,286 (GRCm39)	missense	probably damaging	1.00
R1512:Kif26a	UTSW	12	112,113,389 (GRCm39)	missense	possibly damaging	0.47
R1616:Kif26a	UTSW	12	112,123,680 (GRCm39)	critical splice acceptor site	probably null
R1723:Kif26a	UTSW	12	112,140,292 (GRCm39)	missense	possibly damaging	0.67
R1728:Kif26a	UTSW	12	112,143,219 (GRCm39)	missense	possibly damaging	0.95
R1729:Kif26a	UTSW	12	112,143,219 (GRCm39)	missense	possibly damaging	0.95
R1903:Kif26a	UTSW	12	112,141,974 (GRCm39)	missense	probably damaging	1.00
R2283:Kif26a	UTSW	12	112,143,787 (GRCm39)	missense	possibly damaging	0.66
R3862:Kif26a	UTSW	12	112,146,323 (GRCm39)	missense	probably benign	0.30
R3906:Kif26a	UTSW	12	112,143,324 (GRCm39)	missense	probably benign
R4050:Kif26a	UTSW	12	112,146,350 (GRCm39)	missense	probably benign	0.08
R4270:Kif26a	UTSW	12	112,139,848 (GRCm39)	missense	probably damaging	1.00
R4271:Kif26a	UTSW	12	112,139,848 (GRCm39)	missense	probably damaging	1.00
R4731:Kif26a	UTSW	12	112,142,007 (GRCm39)	missense	probably benign
R4732:Kif26a	UTSW	12	112,142,007 (GRCm39)	missense	probably benign
R4733:Kif26a	UTSW	12	112,142,007 (GRCm39)	missense	probably benign
R4908:Kif26a	UTSW	12	112,123,776 (GRCm39)	missense	probably damaging	1.00
R4946:Kif26a	UTSW	12	112,144,228 (GRCm39)	missense	probably damaging	0.99
R5566:Kif26a	UTSW	12	112,123,788 (GRCm39)	missense	probably damaging	1.00
R6280:Kif26a	UTSW	12	112,141,303 (GRCm39)	missense	probably damaging	0.99
R6422:Kif26a	UTSW	12	112,135,309 (GRCm39)	missense	possibly damaging	0.95
R6513:Kif26a	UTSW	12	112,141,926 (GRCm39)	missense	probably damaging	0.97
R6860:Kif26a	UTSW	12	112,113,263 (GRCm39)	missense	probably damaging	1.00
R6879:Kif26a	UTSW	12	112,144,087 (GRCm39)	missense	probably benign
R7127:Kif26a	UTSW	12	112,144,579 (GRCm39)	missense	probably damaging	1.00
R7366:Kif26a	UTSW	12	112,129,976 (GRCm39)	critical splice donor site	probably null
R7595:Kif26a	UTSW	12	112,145,759 (GRCm39)	missense	probably benign	0.30
R7630:Kif26a	UTSW	12	112,142,131 (GRCm39)	missense	probably damaging	1.00
R7784:Kif26a	UTSW	12	112,144,581 (GRCm39)	missense	possibly damaging	0.66
R7992:Kif26a	UTSW	12	112,142,481 (GRCm39)	missense	probably benign
R8170:Kif26a	UTSW	12	112,141,752 (GRCm39)	splice site	probably null
R9206:Kif26a	UTSW	12	112,144,480 (GRCm39)	missense	possibly damaging	0.92
R9287:Kif26a	UTSW	12	112,145,719 (GRCm39)	nonsense	probably null
R9293:Kif26a	UTSW	12	112,112,835 (GRCm39)	missense	probably damaging	1.00
R9524:Kif26a	UTSW	12	112,140,286 (GRCm39)	missense	probably damaging	1.00
R9559:Kif26a	UTSW	12	112,142,004 (GRCm39)	missense	probably damaging	1.00
R9687:Kif26a	UTSW	12	112,143,625 (GRCm39)	missense	probably damaging	0.99
R9793:Kif26a	UTSW	12	112,142,887 (GRCm39)	missense	probably damaging	1.00
X0027:Kif26a	UTSW	12	112,142,504 (GRCm39)	missense	probably benign	0.26
Z1176:Kif26a	UTSW	12	112,144,052 (GRCm39)	missense	probably damaging	0.97
Z1177:Kif26a	UTSW	12	112,144,045 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16