Mutagenetix > Incidental Mutation

Incidental Mutation 'R0383:Kif26a'

31107

Institutional Source

Beutler Lab

Gene Symbol

Kif26a

Ensembl Gene

ENSMUSG00000021294

Gene Name

kinesin family member 26A

Synonyms

N-11 kinesin

MMRRC Submission

038589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112112642-112148181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112144510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1588 (V1588A)

Ref Sequence

ENSEMBL: ENSMUSP00000119482 (fasta)

Gene Model

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

AlphaFold

Q52KG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128402
AA Change: V1588A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: V1588A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183816

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	T	11: 80,254,767 (GRCm39)	Y351*	probably null	Het
Aadac	G	T	3: 59,943,368 (GRCm39)	R91L	possibly damaging	Het
Adgrg1	T	A	8: 95,738,370 (GRCm39)	F621Y	probably damaging	Het
Ankmy1	G	T	1: 92,812,775 (GRCm39)	D511E	probably benign	Het
Anks4b	A	T	7: 119,782,097 (GRCm39)	D376V	probably damaging	Het
Aox1	G	T	1: 58,100,400 (GRCm39)	C399F	probably benign	Het
Arfgef1	C	T	1: 10,269,067 (GRCm39)		probably null	Het
Arhgef4	G	A	1: 34,849,614 (GRCm39)	V546M	probably damaging	Het
Cab39	T	A	1: 85,765,020 (GRCm39)	V98E	probably damaging	Het
Cacna1b	T	C	2: 24,651,856 (GRCm39)	N108D	probably damaging	Het
Car15	C	A	16: 17,654,617 (GRCm39)	E134*	probably null	Het
Ccdc80	T	G	16: 44,915,732 (GRCm39)	Y163D	probably damaging	Het
Cdcp3	A	G	7: 130,841,268 (GRCm39)	M537V	probably benign	Het
Col22a1	C	T	15: 71,740,853 (GRCm39)	G513D	unknown	Het
Col8a1	T	C	16: 57,452,805 (GRCm39)	D66G	probably damaging	Het
Crot	C	A	5: 9,018,734 (GRCm39)	S544I	probably damaging	Het
Cubn	G	T	2: 13,435,770 (GRCm39)	P1062Q	probably damaging	Het
Dcc	A	T	18: 71,553,334 (GRCm39)	V774E	probably damaging	Het
Dlgap5	T	A	14: 47,647,818 (GRCm39)	M240L	probably benign	Het
Dlx4	A	G	11: 95,036,261 (GRCm39)	V16A	probably benign	Het
Dnah17	G	T	11: 117,958,373 (GRCm39)	H2703Q	probably benign	Het
Duox2	A	G	2: 122,122,291 (GRCm39)		probably null	Het
Fn1	C	T	1: 71,636,844 (GRCm39)	V168I	probably damaging	Het
Fpr-rs4	A	T	17: 18,242,359 (GRCm39)	D122V	probably damaging	Het
Gas2l2	A	T	11: 83,313,923 (GRCm39)	I463N	probably benign	Het
Ggta1	G	T	2: 35,292,416 (GRCm39)	P297Q	probably damaging	Het
Gpatch3	C	A	4: 133,305,457 (GRCm39)	R231S	probably damaging	Het
Gpc1	T	C	1: 92,782,705 (GRCm39)	Y151H	probably damaging	Het
Gpr141b	A	G	13: 19,913,317 (GRCm39)		noncoding transcript	Het
Gtf2e2	T	C	8: 34,245,973 (GRCm39)	W119R	probably damaging	Het
H2-M10.2	T	C	17: 36,595,253 (GRCm39)	I304V	probably benign	Het
Helq	T	C	5: 100,927,031 (GRCm39)	K685R	probably benign	Het
Hps5	C	T	7: 46,418,712 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,885,818 (GRCm39)	C1186R	probably damaging	Het
Ift43	T	C	12: 86,208,795 (GRCm39)	V158A	possibly damaging	Het
Ift70b	A	G	2: 75,768,586 (GRCm39)	Y56H	probably damaging	Het
Iqca1	A	T	1: 90,070,429 (GRCm39)	I141N	probably damaging	Het
Kat6b	A	G	14: 21,719,149 (GRCm39)	N1276S	probably benign	Het
Kif19a	A	T	11: 114,656,340 (GRCm39)	M1L	possibly damaging	Het
Kif1b	T	G	4: 149,286,969 (GRCm39)	H1241P	probably damaging	Het
Klb	T	A	5: 65,529,842 (GRCm39)		probably null	Het
Krtap26-1	A	T	16: 88,444,131 (GRCm39)	Y163*	probably null	Het
Lefty1	G	T	1: 180,765,199 (GRCm39)	E256*	probably null	Het
Lox	T	C	18: 52,662,271 (GRCm39)	N44S	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mctp1	A	G	13: 76,949,663 (GRCm39)	Y565C	probably damaging	Het
Megf6	C	T	4: 154,349,783 (GRCm39)	A961V	probably benign	Het
Mindy4	A	G	6: 55,253,619 (GRCm39)	K496R	probably benign	Het
Nalcn	A	T	14: 123,744,971 (GRCm39)	H352Q	probably benign	Het
Ncoa5	T	C	2: 164,851,310 (GRCm39)	I188V	possibly damaging	Het
Notum	G	T	11: 120,545,282 (GRCm39)	H426N	probably benign	Het
Or52r1	T	A	7: 102,536,458 (GRCm39)	I301F	possibly damaging	Het
Orm2	A	T	4: 63,282,233 (GRCm39)	D137V	probably damaging	Het
Pabpc2	G	A	18: 39,908,448 (GRCm39)	G571D	probably damaging	Het
Pabpc4	A	G	4: 123,191,735 (GRCm39)	N599S	probably damaging	Het
Pak1ip1	T	C	13: 41,166,080 (GRCm39)	V335A	probably benign	Het
Pcdhb11	A	C	18: 37,556,446 (GRCm39)	D592A	probably damaging	Het
Pmch	C	A	10: 87,927,120 (GRCm39)	T41K	possibly damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Pter	G	T	2: 13,005,753 (GRCm39)	G309*	probably null	Het
Ptprg	T	C	14: 12,219,024 (GRCm38)	V406A	possibly damaging	Het
Ranbp3l	A	T	15: 9,063,184 (GRCm39)	E467V	possibly damaging	Het
Rif1	T	A	2: 51,975,153 (GRCm39)	M354K	probably damaging	Het
Ripk4	C	T	16: 97,549,312 (GRCm39)	C248Y	probably damaging	Het
Slc6a15	T	C	10: 103,253,914 (GRCm39)	W617R	probably damaging	Het
Smyd5	C	T	6: 85,417,155 (GRCm39)	Q178*	probably null	Het
St18	T	A	1: 6,873,248 (GRCm39)	F328I	probably damaging	Het
Supt20	T	A	3: 54,610,570 (GRCm39)	L124*	probably null	Het
Tarbp1	T	A	8: 127,174,223 (GRCm39)	H861L	probably benign	Het
Tars1	A	G	15: 11,390,411 (GRCm39)	M356T	probably benign	Het
Tbc1d10a	A	G	11: 4,162,819 (GRCm39)	T221A	probably damaging	Het
Tead3	A	G	17: 28,553,672 (GRCm39)		probably null	Het
Tprg1	A	G	16: 25,240,985 (GRCm39)	T254A	probably damaging	Het
Trank1	C	A	9: 111,220,545 (GRCm39)	N2427K	probably benign	Het
Tufm	T	C	7: 126,089,036 (GRCm39)	S380P	probably damaging	Het
Tyrobp	C	T	7: 30,114,042 (GRCm39)	R68C	probably damaging	Het
Ubl4b	T	C	3: 107,462,143 (GRCm39)	E39G	possibly damaging	Het
Uggt2	A	T	14: 119,286,863 (GRCm39)	F661I	probably damaging	Het
Upf3b	A	G	X: 36,368,120 (GRCm39)	I144T	probably benign	Het
Usp54	A	T	14: 20,611,320 (GRCm39)	D1165E	probably benign	Het
Vmn2r81	C	T	10: 79,129,281 (GRCm39)	T724I	possibly damaging	Het
Vsig1	A	G	X: 139,837,062 (GRCm39)	I247M	possibly damaging	Het
Zfp110	C	A	7: 12,583,187 (GRCm39)	L612I	probably benign	Het
Zfp318	C	A	17: 46,724,222 (GRCm39)	T2075K	probably damaging	Het
Zfp37	A	G	4: 62,110,122 (GRCm39)	M1T	probably null	Het
Zfp605	T	A	5: 110,276,720 (GRCm39)	C613S	probably damaging	Het
Zfp729a	G	A	13: 67,769,792 (GRCm39)	P146S	possibly damaging	Het
Zfp85	T	C	13: 67,896,791 (GRCm39)	N427S	probably benign	Het

Other mutations in Kif26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Kif26a	APN	12	112,124,066 (GRCm39)	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- GTCGTAATCTGGGGCCAAGTACATC -3'
(R):5'- TGCCGCCACTGTGGTAGAAAAG -3'

Sequencing Primer
(F):5'- CAAGTACATCTCGGGCTCTG -3'
(R):5'- AAAGAGCAGTGCGGCCC -3'

Posted On

2013-04-24