Mutagenetix > Incidental Mutation

Incidental Mutation 'R8152:Kif26b'

632986

Institutional Source

Beutler Lab

Gene Symbol

Kif26b

Ensembl Gene

ENSMUSG00000026494

Gene Name

kinesin family member 26B

Synonyms

D230039L06Rik, N-11 kinesin

MMRRC Submission

067578-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178356690-178766765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 178506794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 290 (V290G)

Ref Sequence

ENSEMBL: ENSMUSP00000124462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161017]

AlphaFold

Q7TNC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161017
AA Change: V290G

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124462
Gene: ENSMUSG00000026494
AA Change: V290G

Domain	Start	End	E-Value	Type
low complexity region	58	123	N/A	INTRINSIC
low complexity region	144	155	N/A	INTRINSIC
low complexity region	220	228	N/A	INTRINSIC
Blast:KISc	365	446	4e-8	BLAST
KISc	448	809	2.48e-42	SMART
low complexity region	810	822	N/A	INTRINSIC
low complexity region	849	863	N/A	INTRINSIC
low complexity region	907	913	N/A	INTRINSIC
low complexity region	1007	1047	N/A	INTRINSIC
low complexity region	1099	1109	N/A	INTRINSIC
low complexity region	1269	1288	N/A	INTRINSIC
low complexity region	1485	1495	N/A	INTRINSIC
low complexity region	1741	1769	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.3%
20x: 92.4%

Validation Efficiency

99% (74/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with impaired kidney development due to loss of cortical nephrogenic zone mesenchyme and failure of ureteric buds to invade and branch into the mesenchyme. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,044,305 (GRCm39)	L195P	probably damaging	Het
Adgrb1	T	C	15: 74,413,460 (GRCm39)	V548A	probably benign	Het
Adgrb1	T	C	15: 74,416,849 (GRCm39)	I752T	probably damaging	Het
Adgrb3	T	C	1: 25,260,838 (GRCm39)		probably null	Het
Adh6a	G	T	3: 138,033,275 (GRCm39)		probably null	Het
Aldh18a1	A	G	19: 40,553,456 (GRCm39)	S431P	probably benign	Het
Arap3	T	C	18: 38,124,410 (GRCm39)	R310G	possibly damaging	Het
Atad5	T	C	11: 79,985,996 (GRCm39)	V361A	possibly damaging	Het
Atp8a1	C	A	5: 67,919,925 (GRCm39)	M380I		Het
Calcrl	C	T	2: 84,169,593 (GRCm39)	V363M	possibly damaging	Het
Camsap1	G	T	2: 25,830,253 (GRCm39)	D490E	probably damaging	Het
Cd72	T	A	4: 43,452,601 (GRCm39)	I131F	possibly damaging	Het
Cdh2	C	T	18: 16,762,576 (GRCm39)	G513D	probably benign	Het
Cela1	T	C	15: 100,580,822 (GRCm39)	T145A	probably benign	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfap99	C	T	5: 34,480,735 (GRCm39)	R462C	probably damaging	Het
Cmtm1	A	G	8: 105,036,573 (GRCm39)	S19P	possibly damaging	Het
Crebbp	A	T	16: 3,902,945 (GRCm39)	M2098K	possibly damaging	Het
Csmd3	T	C	15: 47,532,860 (GRCm39)		probably null	Het
Ctsm	C	G	13: 61,687,463 (GRCm39)	V100L	probably benign	Het
Cyp2c67	C	A	19: 39,628,452 (GRCm39)	C164F	probably benign	Het
Cyp2d11	T	C	15: 82,276,688 (GRCm39)	I84V	probably benign	Het
Cyp2j11	T	C	4: 96,195,529 (GRCm39)	D389G	probably damaging	Het
Dctd	A	G	8: 48,564,725 (GRCm39)	D9G	probably benign	Het
Fam221a	C	A	6: 49,355,490 (GRCm39)	F197L	probably damaging	Het
Fbxl4	T	G	4: 22,427,225 (GRCm39)	C489G	possibly damaging	Het
Fmn1	C	T	2: 113,196,037 (GRCm39)	T579M	unknown	Het
Fndc3a	G	A	14: 72,811,820 (GRCm39)	L337F	probably damaging	Het
Frmpd2	A	G	14: 33,265,244 (GRCm39)		probably null	Het
Gdnf	C	T	15: 7,864,243 (GRCm39)	S218L	probably damaging	Het
Gen1	A	G	12: 11,293,266 (GRCm39)	F444L	probably damaging	Het
Gk5	A	T	9: 96,056,756 (GRCm39)	D391V	probably damaging	Het
Gys2	T	C	6: 142,373,136 (GRCm39)	T612A	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Isx	T	C	8: 75,616,627 (GRCm39)	F85L	probably damaging	Het
Kcnh5	T	C	12: 74,944,633 (GRCm39)	D872G	possibly damaging	Het
Ksr2	T	C	5: 117,809,523 (GRCm39)	C429R	probably damaging	Het
Loxhd1	A	C	18: 77,476,095 (GRCm39)	I1121L	possibly damaging	Het
Map2	T	C	1: 66,453,902 (GRCm39)	F931L	probably benign	Het
Mepce	T	C	5: 137,782,935 (GRCm39)	I464V	probably benign	Het
Mpo	G	T	11: 87,692,475 (GRCm39)	V538L	probably benign	Het
Mtarc2	T	A	1: 184,573,509 (GRCm39)	M130L	possibly damaging	Het
Mtrex	T	A	13: 113,009,517 (GRCm39)	K961*	probably null	Het
Myom1	T	C	17: 71,391,290 (GRCm39)	V933A	probably damaging	Het
Nckap1l	T	G	15: 103,386,957 (GRCm39)		probably null	Het
Ncmap	C	A	4: 135,104,375 (GRCm39)	M19I	possibly damaging	Het
Neb	T	A	2: 52,073,848 (GRCm39)	I5920F	probably benign	Het
Nnt	C	T	13: 119,511,212 (GRCm39)	V355I	probably benign	Het
Nr1i2	C	T	16: 38,073,326 (GRCm39)	G217S	probably damaging	Het
Nsd1	A	G	13: 55,458,180 (GRCm39)	R2098G	possibly damaging	Het
Parp4	A	G	14: 56,884,703 (GRCm39)	T1261A	probably benign	Het
Pcgf3	A	T	5: 108,635,723 (GRCm39)	N131I	probably benign	Het
Plcb2	C	T	2: 118,541,302 (GRCm39)	D1012N	probably benign	Het
Plcl2	T	C	17: 50,914,689 (GRCm39)	I566T	probably damaging	Het
Plekha1	G	A	7: 130,510,102 (GRCm39)	A283T	probably damaging	Het
Prag1	A	T	8: 36,567,079 (GRCm39)	M77L	possibly damaging	Het
Rhbdl2	A	T	4: 123,718,711 (GRCm39)	I222L	probably benign	Het
Rnh1	A	C	7: 140,740,617 (GRCm39)	V446G	probably damaging	Het
Sash1	C	T	10: 8,626,805 (GRCm39)	R193H	possibly damaging	Het
Sgf29	G	T	7: 126,271,826 (GRCm39)	V284L	possibly damaging	Het
Slc12a3	G	A	8: 95,057,012 (GRCm39)	G95D	probably benign	Het
Slc17a7	T	C	7: 44,819,714 (GRCm39)	V172A	probably damaging	Het
Spta1	T	C	1: 174,045,510 (GRCm39)	V1556A	probably benign	Het
Tex15	G	A	8: 34,062,921 (GRCm39)	E784K	possibly damaging	Het
Ttn	T	C	2: 76,673,132 (GRCm39)	E11224G	unknown	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zdbf2	C	T	1: 63,345,572 (GRCm39)	T1317I	possibly damaging	Het
Zfat	C	T	15: 67,973,355 (GRCm39)	A1147T	probably benign	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zhx3	T	G	2: 160,622,695 (GRCm39)	I491L	probably benign	Het
Zranb3	T	C	1: 127,882,732 (GRCm39)	D1061G	probably damaging	Het

Other mutations in Kif26b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Kif26b	APN	1	178,743,213 (GRCm39)	missense	probably damaging	1.00
IGL00425:Kif26b	APN	1	178,743,866 (GRCm39)	missense	probably damaging	0.96
IGL00952:Kif26b	APN	1	178,759,770 (GRCm39)	missense	probably damaging	1.00
IGL01100:Kif26b	APN	1	178,744,809 (GRCm39)	missense	probably benign
IGL01347:Kif26b	APN	1	178,698,240 (GRCm39)	missense	probably damaging	1.00
IGL01543:Kif26b	APN	1	178,506,526 (GRCm39)	missense	probably benign	0.41
IGL01938:Kif26b	APN	1	178,743,603 (GRCm39)	missense	probably damaging	0.99
IGL02100:Kif26b	APN	1	178,743,512 (GRCm39)	missense	probably damaging	0.99
IGL02262:Kif26b	APN	1	178,743,633 (GRCm39)	missense	probably benign	0.05
IGL02576:Kif26b	APN	1	178,743,912 (GRCm39)	missense	probably benign
IGL02673:Kif26b	APN	1	178,649,170 (GRCm39)	missense	probably damaging	1.00
IGL03078:Kif26b	APN	1	178,698,291 (GRCm39)	missense	probably damaging	1.00
IGL03155:Kif26b	APN	1	178,701,693 (GRCm39)	missense	probably damaging	1.00
IGL03157:Kif26b	APN	1	178,743,930 (GRCm39)	missense	probably damaging	1.00
IGL03162:Kif26b	APN	1	178,744,497 (GRCm39)	missense	probably benign
IGL03220:Kif26b	APN	1	178,692,434 (GRCm39)	missense	probably damaging	1.00
IGL03299:Kif26b	APN	1	178,649,125 (GRCm39)	missense	probably benign	0.09
IGL03368:Kif26b	APN	1	178,743,773 (GRCm39)	missense	probably damaging	1.00
IGL03370:Kif26b	APN	1	178,742,946 (GRCm39)	missense	probably benign	0.39
PIT4449001:Kif26b	UTSW	1	178,745,651 (GRCm39)	missense	probably damaging	1.00
R0142:Kif26b	UTSW	1	178,742,954 (GRCm39)	missense	probably damaging	1.00
R0621:Kif26b	UTSW	1	178,743,218 (GRCm39)	missense	probably benign	0.02
R0987:Kif26b	UTSW	1	178,649,185 (GRCm39)	missense	probably damaging	1.00
R1107:Kif26b	UTSW	1	178,745,238 (GRCm39)	missense	probably benign	0.03
R1367:Kif26b	UTSW	1	178,744,028 (GRCm39)	missense	probably damaging	1.00
R1386:Kif26b	UTSW	1	178,743,209 (GRCm39)	missense	probably benign
R1619:Kif26b	UTSW	1	178,744,043 (GRCm39)	missense	probably benign	0.00
R1664:Kif26b	UTSW	1	178,759,704 (GRCm39)	missense	probably damaging	1.00
R2240:Kif26b	UTSW	1	178,543,488 (GRCm39)	missense	probably benign	0.00
R2264:Kif26b	UTSW	1	178,756,407 (GRCm39)	critical splice acceptor site	probably null
R2443:Kif26b	UTSW	1	178,742,579 (GRCm39)	missense	probably damaging	0.99
R3023:Kif26b	UTSW	1	178,692,433 (GRCm39)	missense	probably damaging	0.99
R3744:Kif26b	UTSW	1	178,506,595 (GRCm39)	missense	probably benign	0.00
R3831:Kif26b	UTSW	1	178,744,181 (GRCm39)	frame shift	probably null
R3832:Kif26b	UTSW	1	178,744,181 (GRCm39)	frame shift	probably null
R3833:Kif26b	UTSW	1	178,744,181 (GRCm39)	frame shift	probably null
R3843:Kif26b	UTSW	1	178,755,742 (GRCm39)	missense	probably damaging	1.00
R4108:Kif26b	UTSW	1	178,744,530 (GRCm39)	missense	possibly damaging	0.88
R4181:Kif26b	UTSW	1	178,742,991 (GRCm39)	missense	probably damaging	0.98
R4551:Kif26b	UTSW	1	178,711,600 (GRCm39)	missense	probably damaging	1.00
R4552:Kif26b	UTSW	1	178,711,600 (GRCm39)	missense	probably damaging	1.00
R4597:Kif26b	UTSW	1	178,744,358 (GRCm39)	missense	probably damaging	1.00
R4599:Kif26b	UTSW	1	178,358,024 (GRCm39)	missense	unknown
R4610:Kif26b	UTSW	1	178,506,920 (GRCm39)	missense	probably damaging	1.00
R4746:Kif26b	UTSW	1	178,701,546 (GRCm39)	nonsense	probably null
R4873:Kif26b	UTSW	1	178,742,892 (GRCm39)	missense	probably benign	0.38
R4875:Kif26b	UTSW	1	178,742,892 (GRCm39)	missense	probably benign	0.38
R5015:Kif26b	UTSW	1	178,755,895 (GRCm39)	missense	probably damaging	0.99
R5060:Kif26b	UTSW	1	178,358,195 (GRCm39)	missense	unknown
R5301:Kif26b	UTSW	1	178,358,233 (GRCm39)	missense	unknown
R5368:Kif26b	UTSW	1	178,743,449 (GRCm39)	missense	probably damaging	1.00
R5387:Kif26b	UTSW	1	178,742,441 (GRCm39)	missense	probably benign	0.01
R5589:Kif26b	UTSW	1	178,743,864 (GRCm39)	missense	probably benign	0.05
R6150:Kif26b	UTSW	1	178,743,111 (GRCm39)	missense	probably damaging	1.00
R6259:Kif26b	UTSW	1	178,744,970 (GRCm39)	missense	probably damaging	0.97
R6355:Kif26b	UTSW	1	178,743,743 (GRCm39)	missense	probably damaging	1.00
R6408:Kif26b	UTSW	1	178,745,133 (GRCm39)	missense	probably damaging	1.00
R6488:Kif26b	UTSW	1	178,357,138 (GRCm39)	missense	unknown
R6546:Kif26b	UTSW	1	178,755,871 (GRCm39)	missense	probably damaging	1.00
R6702:Kif26b	UTSW	1	178,744,852 (GRCm39)	missense	possibly damaging	0.90
R6886:Kif26b	UTSW	1	178,701,703 (GRCm39)	missense	probably damaging	1.00
R6953:Kif26b	UTSW	1	178,701,637 (GRCm39)	missense	possibly damaging	0.89
R7262:Kif26b	UTSW	1	178,745,219 (GRCm39)	missense	possibly damaging	0.84
R7291:Kif26b	UTSW	1	178,506,611 (GRCm39)	missense	possibly damaging	0.86
R7346:Kif26b	UTSW	1	178,358,306 (GRCm39)	missense	probably damaging	1.00
R7383:Kif26b	UTSW	1	178,358,275 (GRCm39)	missense	probably damaging	1.00
R7448:Kif26b	UTSW	1	178,742,339 (GRCm39)	missense	probably damaging	1.00
R7506:Kif26b	UTSW	1	178,357,064 (GRCm39)	start gained	probably benign
R7562:Kif26b	UTSW	1	178,742,541 (GRCm39)	missense	probably damaging	1.00
R7583:Kif26b	UTSW	1	178,358,010 (GRCm39)	nonsense	probably null
R7585:Kif26b	UTSW	1	178,744,061 (GRCm39)	missense	probably benign	0.01
R7644:Kif26b	UTSW	1	178,506,839 (GRCm39)	missense	probably benign	0.04
R7759:Kif26b	UTSW	1	178,506,509 (GRCm39)	missense	probably damaging	1.00
R7775:Kif26b	UTSW	1	178,692,441 (GRCm39)	missense	probably benign	0.15
R7954:Kif26b	UTSW	1	178,696,944 (GRCm39)	missense	probably damaging	0.99
R7960:Kif26b	UTSW	1	178,506,484 (GRCm39)	missense	probably damaging	1.00
R8012:Kif26b	UTSW	1	178,743,815 (GRCm39)	missense	probably benign	0.20
R8320:Kif26b	UTSW	1	178,711,641 (GRCm39)	critical splice donor site	probably null
R8360:Kif26b	UTSW	1	178,743,938 (GRCm39)	missense	probably benign	0.18
R8428:Kif26b	UTSW	1	178,744,923 (GRCm39)	missense	probably benign	0.09
R8670:Kif26b	UTSW	1	178,741,349 (GRCm39)	missense	probably damaging	1.00
R8737:Kif26b	UTSW	1	178,692,430 (GRCm39)	missense	probably damaging	0.99
R8788:Kif26b	UTSW	1	178,357,090 (GRCm39)	start gained	probably benign
R8854:Kif26b	UTSW	1	178,743,948 (GRCm39)	missense	possibly damaging	0.93
R8870:Kif26b	UTSW	1	178,692,594 (GRCm39)	missense	probably damaging	1.00
R8963:Kif26b	UTSW	1	178,743,714 (GRCm39)	missense	probably benign	0.00
R9232:Kif26b	UTSW	1	178,742,511 (GRCm39)	missense	probably damaging	1.00
R9297:Kif26b	UTSW	1	178,543,374 (GRCm39)	nonsense	probably null
R9338:Kif26b	UTSW	1	178,744,058 (GRCm39)	missense	probably damaging	1.00
R9572:Kif26b	UTSW	1	178,745,042 (GRCm39)	missense	probably benign
R9580:Kif26b	UTSW	1	178,506,643 (GRCm39)	nonsense	probably null
R9694:Kif26b	UTSW	1	178,743,815 (GRCm39)	missense	probably benign	0.20
X0021:Kif26b	UTSW	1	178,755,724 (GRCm39)	missense	probably damaging	1.00
X0024:Kif26b	UTSW	1	178,506,647 (GRCm39)	missense	probably benign	0.14
X0025:Kif26b	UTSW	1	178,742,948 (GRCm39)	missense	possibly damaging	0.70
X0025:Kif26b	UTSW	1	178,742,831 (GRCm39)	nonsense	probably null
Z1177:Kif26b	UTSW	1	178,742,970 (GRCm39)	nonsense	probably null
Z1177:Kif26b	UTSW	1	178,649,115 (GRCm39)	nonsense	probably null
Z1177:Kif26b	UTSW	1	178,649,113 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CGAGCACTATGACACCTCTCTG -3'
(R):5'- GGAAAACCCTCTACTTCCCTG -3'

Sequencing Primer
(F):5'- AGCATTCCCACACTGGTG -3'
(R):5'- CCTGATTTTAGGGGTGCTTACC -3'

Posted On

2020-06-30