Mutagenetix > Incidental Mutation

Incidental Mutation 'R3843:Kif26b'

277229

Institutional Source

Beutler Lab

Gene Symbol

Kif26b

Ensembl Gene

ENSMUSG00000026494

Gene Name

kinesin family member 26B

Synonyms

D230039L06Rik, N-11 kinesin

MMRRC Submission

040783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

178356690-178766765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 178755742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1952 (L1952P)

Ref Sequence

ENSEMBL: ENSMUSP00000124462 (fasta)

Gene Model

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

AlphaFold

Q7TNC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000160789
AA Change: L1505P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124608
Gene: ENSMUSG00000026494
AA Change: L1505P

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

probably damaging
Transcript: ENSMUST00000161017
AA Change: L1952P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124462
Gene: ENSMUSG00000026494
AA Change: L1952P

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

Meta Mutation Damage Score

0.2661

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (35/35)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,092,495 (GRCm39)	Y168*	probably null	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Arid2	C	T	15: 96,249,721 (GRCm39)	T145I	possibly damaging	Het
Ccdc8	T	C	7: 16,729,039 (GRCm39)	V176A	probably damaging	Het
Cdhr1	G	T	14: 36,806,884 (GRCm39)	F440L	probably benign	Het
Ckap2	A	T	8: 22,665,774 (GRCm39)	N424K	probably damaging	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Dennd1b	C	A	1: 138,981,092 (GRCm39)	P102Q	probably damaging	Het
E2f1	A	G	2: 154,402,748 (GRCm39)	S340P	probably benign	Het
Eef1akmt2	C	T	7: 132,433,305 (GRCm39)	V134I	probably damaging	Het
Elp3	A	T	14: 65,802,932 (GRCm39)		probably null	Het
Grap	T	G	11: 61,551,151 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,450,002 (GRCm39)	Y1999H	probably benign	Het
Hectd4	G	T	5: 121,397,936 (GRCm39)	W288L	possibly damaging	Het
Hnf4g	G	A	3: 3,716,362 (GRCm39)	C262Y	probably benign	Het
Hrh4	A	G	18: 13,155,343 (GRCm39)	Y294C	possibly damaging	Het
Igkv5-39	C	A	6: 69,877,526 (GRCm39)	G77W	probably damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Lgr4	C	T	2: 109,827,118 (GRCm39)		probably benign	Het
Nlrc3	G	A	16: 3,782,828 (GRCm39)	R194W	probably benign	Het
Nup214	T	C	2: 31,941,112 (GRCm39)	F547L	probably damaging	Het
Or5m3	A	G	2: 85,838,548 (GRCm39)	I143V	probably benign	Het
Pdp1	T	C	4: 11,961,961 (GRCm39)	K117E	probably benign	Het
Phtf2	G	A	5: 20,979,020 (GRCm39)	A31V	probably damaging	Het
Pip4p2	T	A	4: 14,886,553 (GRCm39)	Y42*	probably null	Het
Pkhd1	A	T	1: 20,628,947 (GRCm39)	C667S	probably benign	Het
Pnp2	T	A	14: 51,200,878 (GRCm39)	L121Q	probably null	Het
Ppfia1	C	T	7: 144,058,707 (GRCm39)	R698Q	probably benign	Het
Sidt1	A	T	16: 44,104,587 (GRCm39)	F275I	probably benign	Het
Slc50a1	A	T	3: 89,177,207 (GRCm39)	I70N	probably damaging	Het
Sytl2	C	G	7: 90,009,367 (GRCm39)	T123R	possibly damaging	Het
Tlk1	T	A	2: 70,579,671 (GRCm39)	T214S	probably benign	Het
Tmco3	A	G	8: 13,346,114 (GRCm39)		probably benign	Het
Trim71	T	C	9: 114,344,914 (GRCm39)	T335A	probably benign	Het
Zbtb47	T	A	9: 121,592,499 (GRCm39)	V273E	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
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
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'- GGGAAACTGGAGGGTCTCATAC -3'
(R):5'- TCTATCCTTAGGGCGGAACCTG -3'

Sequencing Primer
(F):5'- GTCTCATACACGGCGCAAAGG -3'
(R):5'- AACCTGGGGGATCTATGACC -3'

Posted On

2015-04-06