Mutagenetix > Incidental Mutation

Incidental Mutation 'R6879:Kif26a'

536571

Institutional Source

Beutler Lab

Gene Symbol

Kif26a

Ensembl Gene

ENSMUSG00000021294

Gene Name

kinesin family member 26A

Synonyms

N-11 kinesin

MMRRC Submission

044975-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112112642-112148181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112144087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1447 (V1447A)

Ref Sequence

ENSEMBL: ENSMUSP00000119482 (fasta)

Gene Model

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

AlphaFold

Q52KG5

Predicted Effect

probably benign
Transcript: ENSMUST00000128402
AA Change: V1447A

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

SMART Domains

Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: V1447A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	A	G	10: 80,442,621 (GRCm39)	D153G	probably damaging	Het
Agap1	A	T	1: 89,694,177 (GRCm39)	I492F	probably benign	Het
Arhgap31	G	A	16: 38,422,676 (GRCm39)	T1130I	probably benign	Het
Atg2a	T	A	19: 6,301,882 (GRCm39)	C923S	possibly damaging	Het
B3gnt8	C	A	7: 25,328,277 (GRCm39)	Q236K	probably benign	Het
Bptf	T	G	11: 106,933,516 (GRCm39)	I261L	probably benign	Het
Cacna1s	T	C	1: 136,043,697 (GRCm39)	F1592S	probably benign	Het
Catspere2	A	T	1: 177,926,338 (GRCm39)	T335S	possibly damaging	Het
Cops7a	A	T	6: 124,935,748 (GRCm39)		probably null	Het
Defb10	A	G	8: 22,351,898 (GRCm39)	I48V	probably benign	Het
Gabrg3	A	C	7: 57,031,387 (GRCm39)	L51R	probably damaging	Het
Gins2	G	A	8: 121,312,850 (GRCm39)	T96M	probably damaging	Het
Gm11568	A	G	11: 99,749,053 (GRCm39)	Q86R	unknown	Het
Il33	T	C	19: 29,936,362 (GRCm39)	V224A	probably damaging	Het
Kcnh3	C	A	15: 99,136,048 (GRCm39)	Q682K	probably damaging	Het
Kif19a	A	G	11: 114,672,159 (GRCm39)	I249V	probably benign	Het
Klhdc10	T	A	6: 30,449,589 (GRCm39)	M217K	probably damaging	Het
Mcc	T	C	18: 44,945,179 (GRCm39)	S18G	unknown	Het
Mical1	A	T	10: 41,360,515 (GRCm39)	Q651H	probably damaging	Het
Mpdz	G	A	4: 81,266,893 (GRCm39)	T340I	possibly damaging	Het
Or5b95	T	C	19: 12,658,135 (GRCm39)	I221T	probably benign	Het
Or6c202	T	G	10: 128,996,848 (GRCm39)	K2Q	probably benign	Het
Pira12	A	T	7: 3,899,961 (GRCm39)	S214T	probably benign	Het
Plekha6	A	T	1: 133,187,793 (GRCm39)	M105L	possibly damaging	Het
Ppp4r4	T	A	12: 103,518,179 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,521,826 (GRCm39)	N128S	probably benign	Het
Six6	A	G	12: 72,987,298 (GRCm39)	K157E	probably benign	Het
Slc13a3	C	A	2: 165,272,221 (GRCm39)	G274V	probably damaging	Het
Slc25a54	T	A	3: 109,020,150 (GRCm39)	V388E	possibly damaging	Het
Smad2	A	G	18: 76,395,725 (GRCm39)	T55A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spats2	T	C	15: 99,071,293 (GRCm39)	V39A	probably damaging	Het
Stk32b	A	G	5: 37,647,867 (GRCm39)	I167T	possibly damaging	Het
Taf1b	T	A	12: 24,550,516 (GRCm39)	C34S	possibly damaging	Het
Tex2	T	C	11: 106,424,836 (GRCm39)	E812G	unknown	Het
Tlcd2	T	A	11: 75,360,514 (GRCm39)	W186R	probably damaging	Het
Txn2	G	A	15: 77,803,922 (GRCm39)		probably benign	Het
Uggt2	T	C	14: 119,239,271 (GRCm39)	K1387R	probably benign	Het
Unc79	T	A	12: 103,115,046 (GRCm39)		probably null	Het
Usp21	T	C	1: 171,110,077 (GRCm39)	D538G	probably damaging	Het
Zfp109	C	T	7: 23,928,615 (GRCm39)	E265K	probably benign	Het
Zfp263	A	G	16: 3,567,719 (GRCm39)	H390R	probably damaging	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
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
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'- AAGAAGAGTGTTTCTCCCAAGGG -3'
(R):5'- AGAGCCCGAGATGTACTTGG -3'

Sequencing Primer
(F):5'- AAGGGGGCCTTCTTTCCAAG -3'
(R):5'- GAGATGTACTTGGCCCCAGATTAC -3'

Posted On

2018-10-18