Mutagenetix > Incidental Mutation

Incidental Mutation 'R7775:Kif26b'

598809

Institutional Source

Beutler Lab

Gene Symbol

Kif26b

Ensembl Gene

ENSMUSG00000026494

Gene Name

kinesin family member 26B

Synonyms

D230039L06Rik, N-11 kinesin

MMRRC Submission

045831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7775 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178356690-178766765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 178692441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 461 (S461T)

Ref Sequence

ENSEMBL: ENSMUSP00000124462 (fasta)

Gene Model

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

AlphaFold

Q7TNC6

Predicted Effect

probably benign
Transcript: ENSMUST00000160789
AA Change: S14T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124608
Gene: ENSMUSG00000026494
AA Change: S14T

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 benign
Transcript: ENSMUST00000161017
AA Change: S461T

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124462
Gene: ENSMUSG00000026494
AA Change: S461T

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	T	C	7: 16,296,573 (GRCm39)	K831E	probably benign	Het
Arpc1a	C	T	5: 145,041,622 (GRCm39)	R302C	probably benign	Het
Asb5	A	C	8: 55,037,827 (GRCm39)	H173P		Het
Atp6v0a2	A	G	5: 124,779,443 (GRCm39)	E186G	probably damaging	Het
Bbs2	A	T	8: 94,816,388 (GRCm39)		probably null	Het
Capn7	A	G	14: 31,074,367 (GRCm39)	T257A	probably benign	Het
Car4	T	C	11: 84,856,449 (GRCm39)	S246P	probably damaging	Het
Chrm5	A	G	2: 112,310,301 (GRCm39)	S272P	probably benign	Het
Chrna6	T	C	8: 27,897,392 (GRCm39)	I162V	probably damaging	Het
Chst12	T	A	5: 140,509,376 (GRCm39)	M1K	probably null	Het
Cldn6	T	A	17: 23,900,581 (GRCm39)	C182S	probably damaging	Het
Coro6	T	G	11: 77,356,599 (GRCm39)	D102E	probably benign	Het
Cysltr2	A	G	14: 73,267,203 (GRCm39)	I169T	probably benign	Het
Dtx4	G	T	19: 12,469,374 (GRCm39)	P251Q	probably benign	Het
Dyrk3	C	T	1: 131,057,364 (GRCm39)	V270I	possibly damaging	Het
Efhc1	A	T	1: 21,049,685 (GRCm39)	Y515F	probably damaging	Het
Ep300	T	C	15: 81,470,887 (GRCm39)	S20P	unknown	Het
Fmnl2	C	T	2: 52,963,692 (GRCm39)	L275F	unknown	Het
Fstl4	C	T	11: 53,067,798 (GRCm39)	Q554*	probably null	Het
Gal3st2b	G	T	1: 93,868,506 (GRCm39)	D246Y	probably damaging	Het
Gkap1	A	T	13: 58,398,966 (GRCm39)	D188E	probably benign	Het
Gm14226	T	A	2: 154,866,630 (GRCm39)	C196S	possibly damaging	Het
Gm8297	A	G	14: 16,167,939 (GRCm39)	N193S	possibly damaging	Het
Grm8	T	C	6: 27,363,671 (GRCm39)	R615G	possibly damaging	Het
Ing1	A	G	8: 11,611,814 (GRCm39)	E178G	probably benign	Het
Kansl3	A	T	1: 36,387,758 (GRCm39)	L530H	probably damaging	Het
Kcna5	A	T	6: 126,511,768 (GRCm39)	L120*	probably null	Het
L3mbtl3	A	T	10: 26,228,215 (GRCm39)	V15E	unknown	Het
Lama4	A	T	10: 38,954,843 (GRCm39)	H1132L	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Ldlrad4	T	C	18: 68,368,827 (GRCm39)	S95P	probably damaging	Het
Liph	G	T	16: 21,777,664 (GRCm39)	L379I	probably damaging	Het
Lrp2	T	A	2: 69,331,883 (GRCm39)	E1624V	possibly damaging	Het
Matn2	A	T	15: 34,399,223 (GRCm39)	H370L	possibly damaging	Het
Mettl23	T	G	11: 116,740,096 (GRCm39)	V189G	probably benign	Het
Mpp4	G	A	1: 59,162,672 (GRCm39)	T543M	not run	Het
Mrps15	A	T	4: 125,945,170 (GRCm39)	N119I	probably damaging	Het
Or10d4	C	A	9: 39,580,534 (GRCm39)	F60L	possibly damaging	Het
Or5ac21	A	T	16: 59,123,614 (GRCm39)	I33F	probably damaging	Het
Or7d9	A	G	9: 20,193,708 (GRCm39)		probably benign	Het
Or8b36	T	A	9: 37,937,963 (GRCm39)	I287N	probably damaging	Het
Or8g21	T	A	9: 38,906,203 (GRCm39)	H176L	probably damaging	Het
Pax8	A	G	2: 24,325,913 (GRCm39)	S324P	possibly damaging	Het
Pcdha11	A	T	18: 37,145,733 (GRCm39)	Y608F	possibly damaging	Het
Pcdhga5	A	G	18: 37,828,578 (GRCm39)	D342G	probably damaging	Het
Pde6d	A	G	1: 86,471,250 (GRCm39)	S143P	probably damaging	Het
Plau	A	G	14: 20,892,393 (GRCm39)	S393G	probably benign	Het
Plec	A	T	15: 76,061,135 (GRCm39)	I2934N	probably damaging	Het
Primpol	G	T	8: 47,039,459 (GRCm39)	P387Q	probably damaging	Het
Prph2	T	C	17: 47,221,732 (GRCm39)	L37S	possibly damaging	Het
Prrt4	A	G	6: 29,177,718 (GRCm39)	L17P	probably damaging	Het
Pycr3	T	C	15: 75,790,138 (GRCm39)	D171G	probably damaging	Het
Rapgefl1	A	G	11: 98,741,980 (GRCm39)	N648S	probably damaging	Het
Rapsn	A	G	2: 90,875,293 (GRCm39)	T359A	probably benign	Het
Sap25	C	T	5: 137,640,186 (GRCm39)	R66W	probably benign	Het
Setd6	A	T	8: 96,442,866 (GRCm39)	H101L	probably benign	Het
Slc22a3	G	T	17: 12,683,350 (GRCm39)	A171E	probably damaging	Het
Tbc1d2	C	T	4: 46,637,746 (GRCm39)		probably null	Het
Tfap2b	G	A	1: 19,304,531 (GRCm39)	G447D	probably damaging	Het
Txndc2	A	G	17: 65,945,238 (GRCm39)	V313A	probably benign	Het
Uevld	A	T	7: 46,576,100 (GRCm39)	I462N	probably damaging	Het
Vmn2r120	T	C	17: 57,832,942 (GRCm39)	Y79C	probably damaging	Het
Vwa8	T	C	14: 79,275,587 (GRCm39)	V790A	probably benign	Het
Zfp936	A	G	7: 42,839,720 (GRCm39)	T396A	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
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'- TCTTCCCATGACCCAGTGAG -3'
(R):5'- AATCAATGGTAGGTGAGCCC -3'

Sequencing Primer
(F):5'- CCAGTGAGGGTTGGCTTACAG -3'
(R):5'- CCCACCTGAGAAGCATCTTGTG -3'

Posted On

2019-11-26