Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Kif26b'

345403

Institutional Source

Beutler Lab

Gene Symbol

Kif26b

Ensembl Gene

ENSMUSG00000026494

Gene Name

kinesin family member 26B

Synonyms

D230039L06Rik, N-11 kinesin

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4599 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

178356690-178766765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178358024 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 45 (Y45C)

Ref Sequence

ENSEMBL: ENSMUSP00000124462 (fasta)

Gene Model

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

AlphaFold

Q7TNC6

Predicted Effect

unknown
Transcript: ENSMUST00000161017
AA Change: Y45C

SMART Domains

Protein: ENSMUSP00000124462
Gene: ENSMUSG00000026494
AA Change: Y45C

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: ENSMUST00000193931

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,362,494 (GRCm39)	R677G	probably benign	Het
Apc	T	A	18: 34,451,040 (GRCm39)	Y2611*	probably null	Het
Apold1	A	G	6: 134,961,032 (GRCm39)	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,055,737 (GRCm39)	I325V	probably benign	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cd22	T	A	7: 30,575,325 (GRCm39)	H239L	probably damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Cimip2b	T	C	4: 43,427,574 (GRCm39)	H250R	possibly damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Clspn	A	G	4: 126,475,253 (GRCm39)	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819 (GRCm39)	P10S	probably damaging	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Csmd2	G	T	4: 127,881,921 (GRCm39)	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,865,861 (GRCm39)	P153S	probably benign	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,839,546 (GRCm39)	G354C	probably damaging	Het
Dyrk1b	T	C	7: 27,881,856 (GRCm39)	L105P	probably damaging	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Galnt4	T	A	10: 98,945,355 (GRCm39)	V360E	probably damaging	Het
Gart	A	T	16: 91,419,833 (GRCm39)	C24*	probably null	Het
Gcnt2	G	T	13: 41,040,966 (GRCm39)	V42L	probably benign	Het
Herc6	A	G	6: 57,636,698 (GRCm39)	I805V	probably benign	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Irx1	C	A	13: 72,108,232 (GRCm39)	R150L	probably damaging	Het
Krt35	T	C	11: 99,984,834 (GRCm39)	T275A	probably damaging	Het
Laptm5	G	T	4: 130,643,316 (GRCm39)		probably benign	Het
Lin7a	T	C	10: 107,248,027 (GRCm39)	S111P	unknown	Het
Med27	A	G	2: 29,414,470 (GRCm39)	D159G	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Myo1a	A	T	10: 127,556,020 (GRCm39)		probably null	Het
Myo1c	T	C	11: 75,559,019 (GRCm39)	F604L	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,505,282 (GRCm39)	D375G	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	G	7: 104,685,280 (GRCm39)	I292V	probably benign	Het
Padi3	T	C	4: 140,525,422 (GRCm39)	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,814,610 (GRCm39)	N367I	probably damaging	Het
Pdrg1	T	C	2: 152,854,310 (GRCm39)	I77V	probably benign	Het
Pfas	T	C	11: 68,881,895 (GRCm39)	E930G	probably benign	Het
Pik3cb	C	T	9: 98,943,817 (GRCm39)	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,971,237 (GRCm39)	V177E	probably damaging	Het
Prmt7	A	G	8: 106,976,961 (GRCm39)	S558G	possibly damaging	Het
Pspc1	A	C	14: 57,015,246 (GRCm39)		probably null	Het
Rilp	T	C	11: 75,403,586 (GRCm39)	S343P	probably benign	Het
Ror1	A	G	4: 100,265,107 (GRCm39)	M194V	probably damaging	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,324,752 (GRCm39)	N486S	probably damaging	Het
Sema6d	T	A	2: 124,496,151 (GRCm39)	I65N	probably damaging	Het
Slc5a11	A	G	7: 122,857,601 (GRCm39)	E230G	probably benign	Het
Spint1	T	C	2: 119,076,941 (GRCm39)	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,551,923 (GRCm39)	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,604,323 (GRCm39)	T271P	probably damaging	Het
Tie1	A	G	4: 118,329,831 (GRCm39)	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,511,125 (GRCm39)	Y375C	probably benign	Het
Tmem107	T	A	11: 68,962,274 (GRCm39)	M77K	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tns3	T	C	11: 8,481,747 (GRCm39)	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,670,347 (GRCm39)	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ush2a	A	G	1: 188,643,844 (GRCm39)	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,304,322 (GRCm39)	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,210,126 (GRCm39)		probably null	Het
Zp3	A	T	5: 136,013,089 (GRCm39)	K168*	probably null	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
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'- TTGGTCACTTGAAGGATGGAGATAG -3'
(R):5'- TTACAGTTCTCGCACCAGAC -3'

Sequencing Primer
(F):5'- GATAGATGGAGGGCAGGTTTG -3'
(R):5'- GGGAGCCGGTGCCGAAG -3'

Posted On

2015-09-25