Mutagenetix > Incidental Mutation

Incidental Mutation 'R3906:Kif26a'

309196

Institutional Source

Beutler Lab

Gene Symbol

Kif26a

Ensembl Gene

ENSMUSG00000021294

Gene Name

kinesin family member 26A

Synonyms

N-11 kinesin

MMRRC Submission

040813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3906 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

112112642-112148181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112143324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1193 (S1193T)

Ref Sequence

ENSEMBL: ENSMUSP00000119482 (fasta)

Gene Model

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

AlphaFold

Q52KG5

Predicted Effect

probably benign
Transcript: ENSMUST00000128402
AA Change: S1193T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: S1193T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,067,151 (GRCm39)	V1352A	possibly damaging	Het
Abcb7	G	T	X: 103,327,765 (GRCm39)	Q715K	probably benign	Het
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Cacng1	C	A	11: 107,607,118 (GRCm39)	V34L	probably benign	Het
Cd1d1	A	G	3: 86,906,063 (GRCm39)	W71R	probably damaging	Het
Cdhr3	A	G	12: 33,103,427 (GRCm39)	F397L	probably damaging	Het
Ces2a	A	G	8: 105,465,940 (GRCm39)	I325V	probably benign	Het
Ctsq	C	T	13: 61,186,585 (GRCm39)	V140M	probably damaging	Het
Cyp4f18	A	G	8: 72,754,926 (GRCm39)		probably benign	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Dsg3	G	A	18: 20,671,556 (GRCm39)	G754R	probably damaging	Het
Endod1	T	A	9: 14,292,151 (GRCm39)	Y39F	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Fpr2	A	G	17: 18,113,811 (GRCm39)	K269R	probably benign	Het
Frk	T	G	10: 34,460,052 (GRCm39)	L216V	probably benign	Het
Gan	G	A	8: 117,920,873 (GRCm39)	V370M	probably damaging	Het
Grik1	A	G	16: 87,803,337 (GRCm39)	I285T	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Kbtbd8	T	A	6: 95,103,565 (GRCm39)	Y405N	probably damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Kmt2e	A	G	5: 23,706,624 (GRCm39)	N1396D	probably benign	Het
Lasp1	G	A	11: 97,690,653 (GRCm39)	V12M	probably damaging	Het
Lrrk1	G	T	7: 65,944,651 (GRCm39)	T653K	possibly damaging	Het
Meiob	A	G	17: 25,046,922 (GRCm39)	Y182C	probably benign	Het
Myh6	T	C	14: 55,194,412 (GRCm39)	D739G	probably benign	Het
Ninl	T	C	2: 150,822,039 (GRCm39)	D21G	probably damaging	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or9i16	C	T	19: 13,865,070 (GRCm39)	C168Y	probably damaging	Het
Pacsin2	A	C	15: 83,263,256 (GRCm39)	V125G	probably damaging	Het
Pfas	G	A	11: 68,879,112 (GRCm39)		probably benign	Het
Pla2g4f	C	T	2: 120,130,980 (GRCm39)	R825Q	probably benign	Het
Prkd1	A	T	12: 50,435,209 (GRCm39)	V506E	possibly damaging	Het
Psmd2	A	G	16: 20,474,392 (GRCm39)	D316G	probably benign	Het
Ryr2	T	A	13: 11,753,095 (GRCm39)	D1742V	possibly damaging	Het
Szt2	G	A	4: 118,235,466 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Xrcc6	A	G	15: 81,913,772 (GRCm39)	T378A	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
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
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'- CTTGTCTGAAAGCCGTGGTC -3'
(R):5'- TCTGAGTCTCAGGCAATCGAGG -3'

Sequencing Primer
(F):5'- TGAAAGCCGTGGTCCCACAC -3'
(R):5'- TCTGCCCGTAGAGGCTATCTG -3'

Posted On

2015-04-17