Mutagenetix > Incidental Mutation

Incidental Mutation 'R8854:Kif26b'

675154

Institutional Source

Beutler Lab

Gene Symbol

Kif26b

Ensembl Gene

ENSMUSG00000026494

Gene Name

kinesin family member 26B

Synonyms

D230039L06Rik, N-11 kinesin

MMRRC Submission

068676-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8854 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178356690-178766765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 178743948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 1348 (G1348E)

Ref Sequence

ENSEMBL: ENSMUSP00000124462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160789] [ENSMUST00000161017]

AlphaFold

Q7TNC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160789
AA Change: G901E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124608
Gene: ENSMUSG00000026494
AA Change: G901E

Domain	Start	End	E-Value	Type
KISc	1	362	2.48e-42	SMART
low complexity region	363	375	N/A	INTRINSIC
low complexity region	402	416	N/A	INTRINSIC
low complexity region	460	466	N/A	INTRINSIC
low complexity region	560	600	N/A	INTRINSIC
low complexity region	652	662	N/A	INTRINSIC
low complexity region	822	841	N/A	INTRINSIC
low complexity region	1038	1048	N/A	INTRINSIC
low complexity region	1294	1322	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161017
AA Change: G1348E

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124462
Gene: ENSMUSG00000026494
AA Change: G1348E

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	G	A	19: 20,588,297 (GRCm39)	W29*	probably null	Het
Ankib1	C	A	5: 3,777,489 (GRCm39)	W467L	probably null	Het
Arhgef10	A	G	8: 15,029,798 (GRCm39)		probably null	Het
Arpc1b	C	A	5: 145,060,405 (GRCm39)	R66S	probably benign	Het
Atoh1	A	T	6: 64,706,189 (GRCm39)		probably benign	Het
Bach2	T	A	4: 32,575,263 (GRCm39)	D619E	possibly damaging	Het
Bbs9	T	C	9: 22,490,060 (GRCm39)	I277T	probably damaging	Het
Cadps2	G	A	6: 23,385,507 (GRCm39)	P772S	probably damaging	Het
Cd1d1	T	A	3: 86,905,480 (GRCm39)	D171V	probably damaging	Het
Cfap20dc	A	T	14: 8,518,638 (GRCm38)	S273T	probably damaging	Het
Clca3a2	C	T	3: 144,783,852 (GRCm39)	A588T	possibly damaging	Het
Cps1	A	G	1: 67,200,048 (GRCm39)	K399E	probably damaging	Het
Cpt1a	T	C	19: 3,406,327 (GRCm39)	S98P	probably benign	Het
Cryzl2	A	G	1: 157,286,370 (GRCm39)	K36R	possibly damaging	Het
Cxcl13	T	C	5: 96,104,861 (GRCm39)	L11P	unknown	Het
Dbf4	T	A	5: 8,458,562 (GRCm39)	D151V	probably damaging	Het
Eogt	A	T	6: 97,108,359 (GRCm39)	C227*	probably null	Het
Fermt3	T	A	19: 6,991,310 (GRCm39)	D231V	probably damaging	Het
Il2rb	T	C	15: 78,369,953 (GRCm39)	T229A	probably benign	Het
Ildr1	T	A	16: 36,535,910 (GRCm39)	Y142N	probably damaging	Het
Kcnv2	A	T	19: 27,311,258 (GRCm39)	T542S	probably benign	Het
Lancl1	C	T	1: 67,073,358 (GRCm39)	E42K	possibly damaging	Het
Lrp1	T	A	10: 127,378,968 (GRCm39)	D4010V	probably damaging	Het
Mark2	A	G	19: 7,258,369 (GRCm39)	V640A	probably benign	Het
Megf6	C	T	4: 154,352,469 (GRCm39)	T1276M	probably damaging	Het
Meioc	T	C	11: 102,566,589 (GRCm39)	M735T	probably damaging	Het
Mfsd4b5	C	A	10: 39,846,735 (GRCm39)	V282L	probably damaging	Het
Mlx	T	A	11: 100,981,951 (GRCm39)	V286E		Het
Ms4a18	G	A	19: 10,990,887 (GRCm39)	T69I	probably benign	Het
Muc1	C	T	3: 89,139,412 (GRCm39)	P604L	probably damaging	Het
Net1	G	T	13: 3,934,214 (GRCm39)	D548E	probably benign	Het
Ngly1	T	C	14: 16,281,769 (GRCm38)	S342P	probably damaging	Het
Niban1	A	G	1: 151,584,950 (GRCm39)	K516E	probably damaging	Het
Nipbl	A	T	15: 8,330,210 (GRCm39)	I2405N	probably damaging	Het
Nkx2-1	A	T	12: 56,580,206 (GRCm39)	C245S	probably benign	Het
Or52ab7	T	C	7: 102,978,023 (GRCm39)	I110T	probably damaging	Het
Or5p76	T	A	7: 108,122,936 (GRCm39)	I74L	probably benign	Het
Pcare	T	C	17: 72,056,326 (GRCm39)	Y1117C	probably benign	Het
Pcdhgb5	C	T	18: 37,865,501 (GRCm39)	T432I	probably benign	Het
Plpp4	T	A	7: 128,909,362 (GRCm39)	L24*	probably null	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Sass6	C	A	3: 116,399,384 (GRCm39)	Q93K	possibly damaging	Het
Sirpb1c	T	C	3: 15,887,308 (GRCm39)	N177S	possibly damaging	Het
Slc22a30	A	G	19: 8,363,754 (GRCm39)		probably null	Het
Snd1	A	G	6: 28,526,968 (GRCm39)	H217R	probably benign	Het
Spata31d1c	C	A	13: 65,183,804 (GRCm39)	Q449K	possibly damaging	Het
Spidr	A	G	16: 15,707,630 (GRCm39)	V889A	probably damaging	Het
Suclg2	A	T	6: 95,572,650 (GRCm39)	V105D	probably damaging	Het
Syne1	A	T	10: 5,078,503 (GRCm39)	M974K	probably benign	Het
Tbrg4	A	T	11: 6,566,691 (GRCm39)	D605E	probably benign	Het
Tcn2	A	G	11: 3,876,074 (GRCm39)	F118S	possibly damaging	Het
Tcstv2b	T	A	13: 120,377,825 (GRCm39)		probably benign	Het
Tfap4	T	C	16: 4,367,238 (GRCm39)	H208R	probably benign	Het
Trf	A	G	9: 103,107,529 (GRCm39)		probably benign	Het
Trpc4	A	T	3: 54,102,122 (GRCm39)	K7*	probably null	Het
Uap1	G	T	1: 169,976,984 (GRCm39)	P405Q	probably damaging	Het
Usp33	C	A	3: 152,073,967 (GRCm39)	T271N	probably benign	Het
Usp42	T	C	5: 143,702,632 (GRCm39)	D663G	possibly damaging	Het
Vmn2r10	T	C	5: 109,144,126 (GRCm39)	D608G	probably benign	Het
Wfdc16	G	A	2: 164,480,486 (GRCm39)	P3L	probably benign	Het
Zfp28	T	C	7: 6,397,938 (GRCm39)	I791T	probably benign	Het
Zfp970	A	T	2: 177,165,088 (GRCm39)	T5S	probably damaging	Het
Zfy1	A	T	Y: 726,501 (GRCm39)	H421Q	possibly 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
R8152:Kif26b	UTSW	1	178,506,794 (GRCm39)	missense	possibly damaging	0.46
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
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'- AGTGATGGCGAGCAGTCATG -3'
(R):5'- GCCAAGGATCCTCAAATTTCATC -3'

Sequencing Primer
(F):5'- AGTCATGCCACAGCTTCATAG -3'
(R):5'- AGGACTCAGGCTCTTGCAC -3'

Posted On

2021-07-15