Mutagenetix > Incidental Mutations

Incidental Mutation 'R3848:Kif1bp'

275772

Institutional Source

Beutler Lab

Gene Symbol

Kif1bp

Ensembl Gene

ENSMUSG00000036955

Gene Name

KIF1 binding protein

Synonyms

2510003E04Rik

MMRRC Submission

040896-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62538626-62578457 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62569470 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 64 (Y64H)

Ref Sequence

ENSEMBL: ENSMUSP00000125236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065887] [ENSMUST00000159704] [ENSMUST00000162525] [ENSMUST00000162648] [ENSMUST00000162759]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065887
AA Change: Y256H

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

SMART Domains

Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: Y256H

Domain	Start	End	E-Value	Type
low complexity region	39	84	N/A	INTRINSIC
Blast:TPR	204	235	1e-5	BLAST
Pfam:KBP_C	243	610	6.6e-124	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159704
AA Change: Y256H

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

SMART Domains

Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
AA Change: Y256H

Domain	Start	End	E-Value	Type
low complexity region	39	84	N/A	INTRINSIC
Blast:TPR	204	235	1e-5	BLAST
Pfam:KBP_C	242	383	2.7e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160228

Predicted Effect

probably damaging
Transcript: ENSMUST00000162525
AA Change: Y256H

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

SMART Domains

Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
AA Change: Y256H

Domain	Start	End	E-Value	Type
low complexity region	39	84	N/A	INTRINSIC
Blast:TPR	204	235	6e-6	BLAST
Pfam:KBP_C	242	293	5.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162648

Predicted Effect

probably damaging
Transcript: ENSMUST00000162759
AA Change: Y64H

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

SMART Domains

Protein: ENSMUSP00000125236
Gene: ENSMUSG00000036955
AA Change: Y64H

Domain	Start	End	E-Value	Type
low complexity region	39	84	N/A	INTRINSIC
Blast:TPR	204	235	1e-5	BLAST
Pfam:KBP_C	242	329	4.8e-28	PFAM
transmembrane domain	340	362	N/A	INTRINSIC
transmembrane domain	375	397	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208223

Meta Mutation Damage Score

0.9039

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous KO mice die shortly after birth from respiratory failure. Knockout affects innervation of the digestive tract, and the development of the olfactory bulb and the anterior commissure in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,418,546	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,440,072	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,889,309		probably benign	Het
Anxa2	G	T	9: 69,467,342	D34Y	probably damaging	Het
Asic1	A	G	15: 99,672,933	N143S	probably benign	Het
Catsperb	A	C	12: 101,509,326	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525	E132G	possibly damaging	Het
Cdh16	T	C	8: 104,617,841	D22G	possibly damaging	Het
Cep170	G	A	1: 176,755,843	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Cpeb2	T	G	5: 43,237,445	S64A	probably damaging	Het
Ctsc	A	G	7: 88,309,610	H366R	probably benign	Het
Cul5	T	G	9: 53,617,986	M800L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Efhb	A	T	17: 53,426,996		probably benign	Het
Fat4	T	A	3: 39,007,261	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,267,149	S46P	probably benign	Het
Fbxo38	G	A	18: 62,515,073	S798F	possibly damaging	Het
Fggy	T	C	4: 95,601,124		probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Hoxd8	A	G	2: 74,705,585	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,270,837	F101L	probably damaging	Het
Jph2	G	A	2: 163,339,412	P611S	probably benign	Het
Kndc1	T	C	7: 139,908,977	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,948,201	E132G	probably damaging	Het
Lman1l	G	A	9: 57,608,317	A425V	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrpprc	T	C	17: 84,770,927	I308V	probably benign	Het
Mei1	T	C	15: 82,113,017		probably benign	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Nek1	T	A	8: 61,072,315	F596I	probably damaging	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr624	A	G	7: 103,670,701	V110A	probably damaging	Het
Olfr675	A	G	7: 105,024,332	V216A	probably damaging	Het
Orc2	T	C	1: 58,480,992	T225A	probably benign	Het
P2ry1	G	A	3: 61,003,459	W6*	probably null	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pigt	G	A	2: 164,498,580		probably benign	Het
Pik3c2a	A	T	7: 116,364,550	C71*	probably null	Het
Plcxd2	T	C	16: 45,972,266	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,311,042	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,691,308	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sell	A	T	1: 164,065,661	K149*	probably null	Het
Sidt1	A	G	16: 44,255,959		probably benign	Het
Slc6a5	C	G	7: 49,927,558		probably benign	Het
Slc7a14	A	T	3: 31,237,474	N218K	probably damaging	Het
Spice1	C	T	16: 44,378,891	R569*	probably null	Het
Stk35	G	T	2: 129,800,736	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298		probably benign	Het
Tnxb	A	C	17: 34,690,395	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,677,146	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,297,446	D37E	probably benign	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp687	T	C	3: 95,007,914	D1092G	probably damaging	Het

Other mutations in Kif1bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Kif1bp	APN	10	62559339	nonsense	probably null
IGL02127:Kif1bp	APN	10	62578349	missense	probably benign	0.00
IGL03304:Kif1bp	APN	10	62559303	missense	probably damaging	1.00
IGL02980:Kif1bp	UTSW	10	62559168	missense	probably damaging	1.00
R0317:Kif1bp	UTSW	10	62578082	unclassified	probably null
R0408:Kif1bp	UTSW	10	62566053	missense	probably benign	0.37
R0462:Kif1bp	UTSW	10	62559456	missense	probably damaging	1.00
R1469:Kif1bp	UTSW	10	62559450	missense	probably damaging	0.96
R1469:Kif1bp	UTSW	10	62559450	missense	probably damaging	0.96
R1503:Kif1bp	UTSW	10	62559408	missense	probably damaging	0.98
R1830:Kif1bp	UTSW	10	62559327	missense	probably damaging	1.00
R4486:Kif1bp	UTSW	10	62563027	intron	probably benign
R4488:Kif1bp	UTSW	10	62563027	intron	probably benign
R4489:Kif1bp	UTSW	10	62563027	intron	probably benign
R5137:Kif1bp	UTSW	10	62578241	missense	probably damaging	1.00
R5193:Kif1bp	UTSW	10	62559396	missense	possibly damaging	0.81
R5212:Kif1bp	UTSW	10	62563129	intron	probably benign
R5929:Kif1bp	UTSW	10	62559402	missense	probably damaging	1.00
R6179:Kif1bp	UTSW	10	62563250	nonsense	probably null
R6488:Kif1bp	UTSW	10	62559658	intron	probably null
R6513:Kif1bp	UTSW	10	62575034	intron	probably null
R6808:Kif1bp	UTSW	10	62575144	missense	possibly damaging	0.90
R6900:Kif1bp	UTSW	10	62559129	missense	probably damaging	1.00
R6916:Kif1bp	UTSW	10	62566064	missense	probably benign	0.05
R7092:Kif1bp	UTSW	10	62578300	missense	probably damaging	1.00
R7289:Kif1bp	UTSW	10	62566116	missense	probably damaging	1.00
R7376:Kif1bp	UTSW	10	62559064	missense	possibly damaging	0.89
R7672:Kif1bp	UTSW	10	62578073	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACCAGAACACTGCATGAAATTC -3'
(R):5'- TAAGGGCCATGTGCAACAC -3'

Sequencing Primer
(F):5'- CAGAACACTGCATGAAATTCTCAATG -3'
(R):5'- GAAATGTTCGAGAAGGCC -3'

Posted On

2015-04-06