Mutagenetix > Incidental Mutation

Incidental Mutation 'R7720:Kif1b'

595164

Institutional Source

Beutler Lab

Gene Symbol

Kif1b

Ensembl Gene

ENSMUSG00000063077

Gene Name

kinesin family member 1B

Synonyms

Kif1b beta, KIF1Bp130, A530096N05Rik, D4Mil1e, Kif1b alpha, N-3 kinesin, KIF1Bp204

MMRRC Submission

067892-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149176319-149307693 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149182355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1670 (V1670A)

Ref Sequence

ENSEMBL: ENSMUSP00000056754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055647] [ENSMUST00000060537]

AlphaFold

Q60575

Predicted Effect

probably benign
Transcript: ENSMUST00000055647
AA Change: V1624A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061472
Gene: ENSMUSG00000063077
AA Change: V1624A

Domain	Start	End	E-Value	Type
KISc	3	356	5.85e-176	SMART
low complexity region	389	404	N/A	INTRINSIC
FHA	509	566	1.61e-4	SMART
coiled coil region	626	685	N/A	INTRINSIC
Pfam:KIF1B	799	846	9.7e-13	PFAM
internal_repeat_1	901	933	7.01e-7	PROSPERO
low complexity region	1165	1179	N/A	INTRINSIC
Pfam:DUF3694	1220	1368	1.1e-46	PFAM
low complexity region	1444	1461	N/A	INTRINSIC
low complexity region	1479	1507	N/A	INTRINSIC
low complexity region	1573	1591	N/A	INTRINSIC
PH	1656	1755	1.02e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060537
AA Change: V1670A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000056754
Gene: ENSMUSG00000063077
AA Change: V1670A

Domain	Start	End	E-Value	Type
KISc	3	362	7.61e-175	SMART
low complexity region	390	400	N/A	INTRINSIC
low complexity region	432	450	N/A	INTRINSIC
FHA	555	612	1.61e-4	SMART
coiled coil region	672	731	N/A	INTRINSIC
Pfam:KIF1B	845	892	7.1e-15	PFAM
internal_repeat_1	947	979	4.76e-7	PROSPERO
low complexity region	1211	1225	N/A	INTRINSIC
Pfam:DUF3694	1266	1413	1.1e-40	PFAM
low complexity region	1490	1507	N/A	INTRINSIC
low complexity region	1525	1553	N/A	INTRINSIC
low complexity region	1619	1637	N/A	INTRINSIC
PH	1702	1801	1.02e-14	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120076
Gene: ENSMUSG00000063077
AA Change: V348A

Domain	Start	End	E-Value	Type
Pfam:DUF3694	1	92	4.4e-23	PFAM
low complexity region	169	186	N/A	INTRINSIC
low complexity region	204	232	N/A	INTRINSIC
low complexity region	298	316	N/A	INTRINSIC
PH	381	480	1.02e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced brain size, elevated pain threshold, and neonatal death from apnea. Heterozygotes exhibit impaired synaptic vesicle precursor transport and progressive muscle weakness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102 (GRCm38)	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112 (GRCm38)	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859 (GRCm38)		probably benign	Het
Agap2	A	G	10: 127,091,088 (GRCm38)	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239 (GRCm38)	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423 (GRCm38)	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431 (GRCm38)	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108 (GRCm38)	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044 (GRCm38)	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975 (GRCm38)	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090 (GRCm38)	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257 (GRCm38)	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133 (GRCm38)	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959 (GRCm38)	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097 (GRCm38)	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288 (GRCm38)	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308 (GRCm38)	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435 (GRCm38)	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709 (GRCm38)	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022 (GRCm38)	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537 (GRCm38)	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083 (GRCm38)	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908 (GRCm38)	S343P	possibly damaging	Het
Lman2	A	T	13: 55,353,077 (GRCm38)		probably null	Het
Ltbp1	A	T	17: 75,385,124 (GRCm38)	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588 (GRCm38)	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537 (GRCm38)	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330 (GRCm38)	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303 (GRCm38)	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488 (GRCm38)	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023 (GRCm38)	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921 (GRCm38)	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771 (GRCm38)	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411 (GRCm38)	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940 (GRCm38)	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174 (GRCm38)	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857 (GRCm38)	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218 (GRCm38)	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707 (GRCm38)	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489 (GRCm38)	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937 (GRCm38)	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335 (GRCm38)	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703 (GRCm38)	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015 (GRCm38)	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430 (GRCm38)	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720 (GRCm38)	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072 (GRCm38)	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475 (GRCm38)	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532 (GRCm38)	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461 (GRCm38)	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703 (GRCm38)	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356 (GRCm38)	Q29L	probably benign	Het
Wipi1	G	T	11: 109,582,423 (GRCm38)	S250Y	probably damaging	Het

Other mutations in Kif1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Kif1b	APN	4	149,220,602 (GRCm38)	missense	probably damaging	1.00
IGL01943:Kif1b	APN	4	149,214,905 (GRCm38)	critical splice donor site	probably null
IGL02240:Kif1b	APN	4	149,246,414 (GRCm38)	missense	probably damaging	1.00
IGL02414:Kif1b	APN	4	149,199,314 (GRCm38)	missense	probably damaging	0.96
IGL02490:Kif1b	APN	4	149,204,208 (GRCm38)	missense	probably benign
IGL02501:Kif1b	APN	4	149,214,976 (GRCm38)	missense	probably damaging	1.00
IGL02833:Kif1b	APN	4	149,246,364 (GRCm38)	missense	probably damaging	1.00
IGL02852:Kif1b	APN	4	149,291,328 (GRCm38)	missense	probably damaging	1.00
IGL02900:Kif1b	APN	4	149,180,809 (GRCm38)	missense	possibly damaging	0.81
IGL03287:Kif1b	APN	4	149,214,981 (GRCm38)	missense	possibly damaging	0.67
IGL03412:Kif1b	APN	4	149,274,939 (GRCm38)	missense	probably benign	0.00
PIT4305001:Kif1b	UTSW	4	149,220,792 (GRCm38)	critical splice acceptor site	probably null
R0005:Kif1b	UTSW	4	149,181,927 (GRCm38)	missense	probably damaging	1.00
R0044:Kif1b	UTSW	4	149,263,601 (GRCm38)	splice site	probably benign
R0044:Kif1b	UTSW	4	149,263,601 (GRCm38)	splice site	probably benign
R0129:Kif1b	UTSW	4	149,261,201 (GRCm38)	missense	probably benign
R0180:Kif1b	UTSW	4	149,213,659 (GRCm38)	missense	probably damaging	1.00
R0288:Kif1b	UTSW	4	149,199,338 (GRCm38)	missense	probably damaging	1.00
R0360:Kif1b	UTSW	4	149,262,729 (GRCm38)	missense	probably damaging	1.00
R0383:Kif1b	UTSW	4	149,202,512 (GRCm38)	missense	probably damaging	1.00
R0398:Kif1b	UTSW	4	149,204,231 (GRCm38)	missense	possibly damaging	0.89
R0403:Kif1b	UTSW	4	149,181,967 (GRCm38)	nonsense	probably null
R0445:Kif1b	UTSW	4	149,188,009 (GRCm38)	missense	probably benign	0.01
R1466:Kif1b	UTSW	4	149,223,252 (GRCm38)	missense	probably damaging	0.99
R1466:Kif1b	UTSW	4	149,223,252 (GRCm38)	missense	probably damaging	0.99
R1681:Kif1b	UTSW	4	149,195,501 (GRCm38)	critical splice acceptor site	probably null
R1728:Kif1b	UTSW	4	149,187,722 (GRCm38)	missense	probably damaging	0.99
R1840:Kif1b	UTSW	4	149,188,132 (GRCm38)	missense	probably damaging	1.00
R1874:Kif1b	UTSW	4	149,187,632 (GRCm38)	missense	probably benign
R1915:Kif1b	UTSW	4	149,267,216 (GRCm38)	missense	probably damaging	1.00
R2106:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2124:Kif1b	UTSW	4	149,222,296 (GRCm38)	missense	probably benign	0.08
R2126:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2127:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2128:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2129:Kif1b	UTSW	4	149,187,640 (GRCm38)	missense	possibly damaging	0.92
R2146:Kif1b	UTSW	4	149,184,309 (GRCm38)	missense	probably damaging	0.99
R2255:Kif1b	UTSW	4	149,274,997 (GRCm38)	missense	probably damaging	1.00
R2392:Kif1b	UTSW	4	149,220,620 (GRCm38)	missense	possibly damaging	0.93
R2883:Kif1b	UTSW	4	149,237,648 (GRCm38)	missense	possibly damaging	0.78
R2981:Kif1b	UTSW	4	149,220,541 (GRCm38)	critical splice donor site	probably null
R3038:Kif1b	UTSW	4	149,213,333 (GRCm38)	missense	probably benign	0.02
R3616:Kif1b	UTSW	4	149,262,283 (GRCm38)	splice site	probably benign
R3935:Kif1b	UTSW	4	149,237,160 (GRCm38)	missense	probably benign	0.00
R4347:Kif1b	UTSW	4	149,247,234 (GRCm38)	missense	probably damaging	1.00
R4423:Kif1b	UTSW	4	149,214,105 (GRCm38)	missense	probably damaging	0.99
R4637:Kif1b	UTSW	4	149,199,311 (GRCm38)	missense	probably damaging	0.97
R4745:Kif1b	UTSW	4	149,237,882 (GRCm38)	nonsense	probably null
R4807:Kif1b	UTSW	4	149,247,921 (GRCm38)	intron	probably benign
R5618:Kif1b	UTSW	4	149,269,889 (GRCm38)	missense	possibly damaging	0.94
R5644:Kif1b	UTSW	4	149,238,482 (GRCm38)	missense	probably damaging	0.96
R5683:Kif1b	UTSW	4	149,222,261 (GRCm38)	missense	probably damaging	1.00
R5696:Kif1b	UTSW	4	149,273,849 (GRCm38)	splice site	probably null
R6022:Kif1b	UTSW	4	149,198,532 (GRCm38)	missense	probably benign	0.01
R6048:Kif1b	UTSW	4	149,263,629 (GRCm38)	missense	probably damaging	1.00
R6137:Kif1b	UTSW	4	149,238,426 (GRCm38)	missense	possibly damaging	0.47
R6139:Kif1b	UTSW	4	149,237,532 (GRCm38)	missense	possibly damaging	0.88
R6171:Kif1b	UTSW	4	149,258,048 (GRCm38)	missense	probably damaging	1.00
R6250:Kif1b	UTSW	4	149,213,643 (GRCm38)	missense	probably benign	0.00
R6423:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6424:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6425:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6443:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6460:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6462:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6463:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6469:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6470:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6471:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6472:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6504:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6536:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6537:Kif1b	UTSW	4	149,192,596 (GRCm38)	missense	probably benign	0.16
R6668:Kif1b	UTSW	4	149,213,407 (GRCm38)	missense	probably benign	0.09
R6698:Kif1b	UTSW	4	149,274,956 (GRCm38)	missense	probably damaging	0.99
R7065:Kif1b	UTSW	4	149,202,525 (GRCm38)	missense	possibly damaging	0.46
R7222:Kif1b	UTSW	4	149,225,157 (GRCm38)	missense	probably damaging	1.00
R7342:Kif1b	UTSW	4	149,214,090 (GRCm38)	missense	possibly damaging	0.94
R7744:Kif1b	UTSW	4	149,237,075 (GRCm38)	missense	possibly damaging	0.83
R7797:Kif1b	UTSW	4	149,237,387 (GRCm38)	missense	probably benign
R7829:Kif1b	UTSW	4	149,220,990 (GRCm38)	splice site	probably null
R7869:Kif1b	UTSW	4	149,184,376 (GRCm38)	missense	probably benign	0.01
R7878:Kif1b	UTSW	4	149,214,997 (GRCm38)	missense	probably damaging	0.98
R7980:Kif1b	UTSW	4	149,269,921 (GRCm38)	missense	probably damaging	1.00
R8047:Kif1b	UTSW	4	149,214,922 (GRCm38)	missense	probably damaging	1.00
R8237:Kif1b	UTSW	4	149,191,185 (GRCm38)	missense	probably benign	0.10
R8243:Kif1b	UTSW	4	149,204,267 (GRCm38)	missense	probably benign
R8252:Kif1b	UTSW	4	149,273,805 (GRCm38)	missense	probably damaging	1.00
R8342:Kif1b	UTSW	4	149,222,348 (GRCm38)	missense	probably damaging	0.96
R8460:Kif1b	UTSW	4	149,187,620 (GRCm38)	missense	possibly damaging	0.93
R8462:Kif1b	UTSW	4	149,182,340 (GRCm38)	missense	probably benign	0.05
R8496:Kif1b	UTSW	4	149,192,611 (GRCm38)	nonsense	probably null
R8687:Kif1b	UTSW	4	149,261,163 (GRCm38)	nonsense	probably null
R8694:Kif1b	UTSW	4	149,220,567 (GRCm38)	missense	probably damaging	0.98
R8842:Kif1b	UTSW	4	149,253,739 (GRCm38)	missense	probably damaging	0.98
R8883:Kif1b	UTSW	4	149,276,885 (GRCm38)	missense	probably benign
R8971:Kif1b	UTSW	4	149,247,816 (GRCm38)	missense	probably damaging	1.00
R8994:Kif1b	UTSW	4	149,195,482 (GRCm38)	missense
R9002:Kif1b	UTSW	4	149,191,255 (GRCm38)	missense	probably damaging	0.96
R9227:Kif1b	UTSW	4	149,237,900 (GRCm38)	missense	probably damaging	1.00
R9231:Kif1b	UTSW	4	149,191,195 (GRCm38)	missense	possibly damaging	0.94
R9450:Kif1b	UTSW	4	149,238,010 (GRCm38)	missense	probably benign	0.01
R9478:Kif1b	UTSW	4	149,261,159 (GRCm38)	critical splice donor site	probably null
R9571:Kif1b	UTSW	4	149,220,641 (GRCm38)	missense	probably damaging	1.00
R9644:Kif1b	UTSW	4	149,291,379 (GRCm38)	missense	probably damaging	1.00
RF008:Kif1b	UTSW	4	149,251,738 (GRCm38)	splice site	probably null
X0009:Kif1b	UTSW	4	149,247,264 (GRCm38)	missense	probably damaging	1.00
X0062:Kif1b	UTSW	4	149,275,005 (GRCm38)	missense	probably damaging	1.00
Z1176:Kif1b	UTSW	4	149,266,298 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CACTGGTCACATCAGCACAATG -3'
(R):5'- TAGCTGACCTCTGAAACTGATG -3'

Sequencing Primer
(F):5'- CACAATGTGCTAGGCCCAGATG -3'
(R):5'- GACCTCTGAAACTGATGTTTGC -3'

Posted On

2019-11-12