Mutagenetix > Incidental Mutation

Incidental Mutation 'R6408:Kif26b'

514517

Institutional Source

Beutler Lab

Gene Symbol

Kif26b

Ensembl Gene

ENSMUSG00000026494

Gene Name

kinesin family member 26B

Synonyms

D230039L06Rik, N-11 kinesin

MMRRC Submission

044553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6408 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178356690-178766765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 178745133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1743 (L1743P)

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: L1296P

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

SMART Domains

Protein: ENSMUSP00000124608
Gene: ENSMUSG00000026494
AA Change: L1296P

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: L1743P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124462
Gene: ENSMUSG00000026494
AA Change: L1743P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162545

Meta Mutation Damage Score

0.0886

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.2%

Validation Efficiency

94% (45/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,691,858 (GRCm39)	S50P	probably damaging	Het
4930407I10Rik	T	C	15: 81,949,307 (GRCm39)	V1068A	possibly damaging	Het
Acss1	A	G	2: 150,470,412 (GRCm39)		probably null	Het
Amer2	T	C	14: 60,617,674 (GRCm39)	I497T	probably damaging	Het
Azi2	A	T	9: 117,890,550 (GRCm39)	R51*	probably null	Het
Brdt	A	G	5: 107,533,358 (GRCm39)	D946G	probably damaging	Het
Bzw2	C	T	12: 36,157,524 (GRCm39)	V314I	possibly damaging	Het
Capn13	A	T	17: 73,672,954 (GRCm39)	Y116*	probably null	Het
Clca4b	A	G	3: 144,625,036 (GRCm39)	I485T	probably benign	Het
Crybg3	T	A	16: 59,316,053 (GRCm39)	T1130S	possibly damaging	Het
Cubn	C	T	2: 13,299,014 (GRCm39)	V3220M	probably damaging	Het
Cyp4f16	T	A	17: 32,770,173 (GRCm39)	L514Q	probably damaging	Het
D7Ertd443e	G	T	7: 133,951,440 (GRCm39)	Q31K	probably benign	Het
Dcaf15	T	C	8: 84,831,355 (GRCm39)	E8G	probably benign	Het
Ddx24	A	C	12: 103,391,819 (GRCm39)		probably benign	Het
Diaph3	T	C	14: 87,066,430 (GRCm39)	M988V	possibly damaging	Het
Dlx4	A	G	11: 95,036,078 (GRCm39)	V77A	probably benign	Het
Dnah3	T	C	7: 119,522,191 (GRCm39)		probably null	Het
Drc1	A	G	5: 30,513,632 (GRCm39)	E396G	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Gbp2b	T	C	3: 142,323,899 (GRCm39)	L568S	probably benign	Het
Gjb5	A	T	4: 127,249,940 (GRCm39)	F68Y	probably benign	Het
Hs6st3	C	A	14: 119,376,046 (GRCm39)	P74T	probably benign	Het
Lnx1	A	T	5: 74,846,307 (GRCm39)	C48S	probably damaging	Het
Lrfn2	A	G	17: 49,377,654 (GRCm39)	H245R	probably damaging	Het
Lrrc27	A	G	7: 138,798,184 (GRCm39)	E93G	probably benign	Het
Mettl6	T	C	14: 31,201,683 (GRCm39)	E253G	probably damaging	Het
Nmu	A	T	5: 76,491,818 (GRCm39)	F106Y	probably damaging	Het
Pcsk7	T	C	9: 45,820,994 (GRCm39)	I142T	probably benign	Het
Polr3a	A	T	14: 24,536,939 (GRCm39)		probably null	Het
Psmb9	G	T	17: 34,404,707 (GRCm39)	A19E	probably damaging	Het
Pus7l	A	G	15: 94,429,456 (GRCm39)	M454T	probably benign	Het
Raet1e	A	G	10: 22,056,645 (GRCm39)	T74A	probably benign	Het
Ralb	A	C	1: 119,405,839 (GRCm39)	Y43*	probably null	Het
Ralgapa1	C	A	12: 55,730,695 (GRCm39)	E1947*	probably null	Het
Rnf26rt	A	G	6: 76,473,441 (GRCm39)	C392R	probably damaging	Het
Robo1	T	C	16: 72,768,934 (GRCm39)	Y500H	probably benign	Het
Shroom1	A	C	11: 53,354,214 (GRCm39)	T45P	probably benign	Het
Slit2	A	G	5: 48,142,328 (GRCm39)		probably benign	Het
Spmip2	A	G	3: 79,356,706 (GRCm39)	R170G	probably benign	Het
Srgap3	T	C	6: 112,699,967 (GRCm39)	S1004G	probably damaging	Het
Taok2	A	G	7: 126,470,164 (GRCm39)	V888A	probably benign	Het
Tbc1d8	T	A	1: 39,441,980 (GRCm39)	D204V	probably damaging	Het
Thoc2l	A	G	5: 104,666,643 (GRCm39)	I388M	probably benign	Het
Trav7d-4	C	A	14: 53,007,624 (GRCm39)	A39D	probably damaging	Het
Ush2a	G	T	1: 187,999,229 (GRCm39)	E180*	probably null	Het
Vmn1r37	A	G	6: 66,708,563 (GRCm39)	D63G	probably benign	Het
Zfp282	G	A	6: 47,857,319 (GRCm39)	R184Q	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
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'- CCACTACGAATGCTTGTCGTTG -3'
(R):5'- TTAGCGGCAGTTTGGAAGCC -3'

Sequencing Primer
(F):5'- CTACGAATGCTTGTCGTTGGAGAG -3'
(R):5'- TTTGGAAGCCAGCCCAGAG -3'

Posted On

2018-05-04