Mutagenetix > Incidental Mutation

Incidental Mutation 'R8360:Kif26b'

652125

Institutional Source

Beutler Lab

Gene Symbol

Kif26b

Ensembl Gene

ENSMUSG00000026494

Gene Name

kinesin family member 26B

Synonyms

D230039L06Rik, N-11 kinesin

MMRRC Submission

067734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8360 (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 178743938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1345 (S1345P)

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: S898P

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124608
Gene: ENSMUSG00000026494
AA Change: S898P

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: S1345P

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124462
Gene: ENSMUSG00000026494
AA Change: S1345P

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: 98.5%

Validation Efficiency

96% (43/45)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	C	T	19: 21,655,888 (GRCm39)	Q57*	probably null	Het
Acad8	C	T	9: 26,890,352 (GRCm39)	A288T	possibly damaging	Het
Adamtsl3	G	A	7: 82,197,187 (GRCm39)	C711Y	probably damaging	Het
Ahcyl2	C	A	6: 29,768,869 (GRCm39)	D111E	probably benign	Het
Asxl3	T	C	18: 22,649,174 (GRCm39)	F388L	probably benign	Het
Bcr	T	A	10: 74,981,271 (GRCm39)	S697T	probably damaging	Het
Catspere2	G	A	1: 177,842,724 (GRCm39)	V50M	possibly damaging	Het
Dgka	C	A	10: 128,563,997 (GRCm39)	V451F	probably damaging	Het
Dnajc2	A	T	5: 21,962,705 (GRCm39)	C617S	unknown	Het
Erich3	C	A	3: 154,469,991 (GRCm39)	T1481K	unknown	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hdac2	T	A	10: 36,874,059 (GRCm39)	D396E	probably benign	Het
Hmgcs2	A	T	3: 98,204,724 (GRCm39)	D294V	possibly damaging	Het
Hnf1a	A	G	5: 115,091,391 (GRCm39)	V434A	possibly damaging	Het
Il4ra	T	C	7: 125,169,138 (GRCm39)	L130P	probably damaging	Het
Inpp5j	T	C	11: 3,449,767 (GRCm39)	K672E	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Lrrc28	A	T	7: 67,290,909 (GRCm39)	D37E	probably benign	Het
Mlx	G	T	11: 100,978,140 (GRCm39)		probably benign	Het
Muc16	T	C	9: 18,436,554 (GRCm39)	H7878R	probably benign	Het
Mybpc1	C	A	10: 88,409,359 (GRCm39)	E32*	probably null	Het
Nebl	C	T	2: 17,465,298 (GRCm39)	V18M	probably benign	Het
Nhsl3	C	T	4: 129,117,995 (GRCm39)	R268Q	possibly damaging	Het
Nlrp3	T	C	11: 59,440,229 (GRCm39)	V602A	probably benign	Het
Npepps	G	A	11: 97,120,665 (GRCm39)	P532S	probably benign	Het
Or7g12	T	A	9: 18,900,139 (GRCm39)	M285K	probably benign	Het
Or8g19	C	T	9: 39,055,761 (GRCm39)	R122*	probably null	Het
Or8k53	T	C	2: 86,177,668 (GRCm39)	I147M	possibly damaging	Het
Pfdn1	G	A	18: 36,584,214 (GRCm39)	T40M	probably benign	Het
Pkd2	G	T	5: 104,607,653 (GRCm39)	E51*	probably null	Het
Prss40	T	A	1: 34,599,876 (GRCm39)	H37L	probably benign	Het
Rab11fip1	A	T	8: 27,642,374 (GRCm39)	C808*	probably null	Het
Rab3gap2	A	T	1: 184,999,270 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,017,232 (GRCm39)	R232H	probably benign	Het
Sbk3	A	G	7: 4,970,707 (GRCm39)	F221L	probably damaging	Het
Sema7a	T	G	9: 57,862,974 (GRCm39)		probably benign	Het
Serpina3b	C	A	12: 104,104,962 (GRCm39)	N379K	probably benign	Het
Ssbp4	A	G	8: 71,052,039 (GRCm39)	L208P	probably benign	Het
Stxbp5	C	T	10: 9,688,003 (GRCm39)		probably null	Het
Tecrl	A	G	5: 83,448,764 (GRCm39)	Y160H	probably damaging	Het
Tnc	T	C	4: 63,885,511 (GRCm39)	I1773V	probably benign	Het
Ush2a	A	G	1: 188,198,468 (GRCm39)	T1511A	probably benign	Het
Utp15	T	C	13: 98,391,499 (GRCm39)	N246S	probably damaging	Het
Vmn1r49	C	T	6: 90,049,991 (GRCm39)	A4T	probably benign	Het
Vmn2r57	A	T	7: 41,049,640 (GRCm39)	I703N	probably damaging	Het
Wdr93	A	G	7: 79,398,974 (GRCm39)	D36G	probably damaging	Het
Zfp334	A	G	2: 165,225,278 (GRCm39)	I8T	probably benign	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
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'- GCATCATCAGCAGCATCAGC -3'
(R):5'- GACTCAGGCTCTTGCACGTTTC -3'

Sequencing Primer
(F):5'- TGAGCATCACGCAGTTCCTG -3'
(R):5'- CACGTTTCGGGGGCTCATG -3'

Posted On

2020-10-20