Mutagenetix > Incidental Mutation

Incidental Mutation 'R3848:Kifbp'

275772

Institutional Source

Beutler Lab

Gene Symbol

Kifbp

Ensembl Gene

ENSMUSG00000036955

Gene Name

kinesin family binding protein

Synonyms

2510003E04Rik, Kif1bp

MMRRC Submission

040896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62394249-62414846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62405249 bp (GRCm39)

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]

AlphaFold

Q6ZPU9

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: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Adgrv1	A	G	13: 81,588,191 (GRCm39)	V4465A	probably damaging	Het
Als2cl	A	G	9: 110,718,377 (GRCm39)		probably benign	Het
Anxa2	G	T	9: 69,374,624 (GRCm39)	D34Y	probably damaging	Het
Asic1	A	G	15: 99,570,814 (GRCm39)	N143S	probably benign	Het
Catsperb	A	C	12: 101,475,585 (GRCm39)	Q376H	probably damaging	Het
Cd72	T	C	4: 43,452,525 (GRCm39)	E132G	possibly damaging	Het
Cdh16	T	C	8: 105,344,473 (GRCm39)	D22G	possibly damaging	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Col15a1	T	C	4: 47,289,374 (GRCm39)	V48A	possibly damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpeb2	T	G	5: 43,394,788 (GRCm39)	S64A	probably damaging	Het
Cplx3	G	A	9: 57,515,600 (GRCm39)	A425V	possibly damaging	Het
Ctsc	A	G	7: 87,958,818 (GRCm39)	H366R	probably benign	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Efhb	A	T	17: 53,734,024 (GRCm39)		probably benign	Het
Fat4	T	A	3: 39,061,410 (GRCm39)	V4331D	probably benign	Het
Fbxl8	T	C	8: 105,993,781 (GRCm39)	S46P	probably benign	Het
Fbxo38	G	A	18: 62,648,144 (GRCm39)	S798F	possibly damaging	Het
Fggy	T	C	4: 95,489,361 (GRCm39)		probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Hoxd8	A	G	2: 74,535,929 (GRCm39)	Y13C	possibly damaging	Het
Hsf4	T	C	8: 105,997,469 (GRCm39)	F101L	probably damaging	Het
Jph2	G	A	2: 163,181,332 (GRCm39)	P611S	probably benign	Het
Kndc1	T	C	7: 139,488,893 (GRCm39)	S183P	probably damaging	Het
L3mbtl1	A	G	2: 162,790,121 (GRCm39)	E132G	probably damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrpprc	T	C	17: 85,078,355 (GRCm39)	I308V	probably benign	Het
Mei1	T	C	15: 81,997,218 (GRCm39)		probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Or51v8	A	G	7: 103,319,908 (GRCm39)	V110A	probably damaging	Het
Or52e8b	A	G	7: 104,673,539 (GRCm39)	V216A	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Orc2	T	C	1: 58,520,151 (GRCm39)	T225A	probably benign	Het
P2ry1	G	A	3: 60,910,880 (GRCm39)	W6*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pigt	G	A	2: 164,340,500 (GRCm39)		probably benign	Het
Pik3c2a	A	T	7: 115,963,785 (GRCm39)	C71*	probably null	Het
Plcxd2	T	C	16: 45,792,629 (GRCm39)	T237A	probably damaging	Het
Pnrc1	T	C	4: 33,246,252 (GRCm39)	K236E	probably damaging	Het
Ppargc1b	T	A	18: 61,444,113 (GRCm39)	D350V	probably damaging	Het
Rapgef6	T	C	11: 54,582,134 (GRCm39)	S1349P	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Sell	A	T	1: 163,893,230 (GRCm39)	K149*	probably null	Het
Sidt1	A	G	16: 44,076,322 (GRCm39)		probably benign	Het
Slc6a5	C	G	7: 49,577,306 (GRCm39)		probably benign	Het
Slc7a14	A	T	3: 31,291,623 (GRCm39)	N218K	probably damaging	Het
Spice1	C	T	16: 44,199,254 (GRCm39)	R569*	probably null	Het
Stk35	G	T	2: 129,642,656 (GRCm39)	A66S	probably benign	Het
Tmem245	A	G	4: 56,926,298 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,909,369 (GRCm39)	R1632S	possibly damaging	Het
Ttc6	G	A	12: 57,723,932 (GRCm39)	R1020H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Vmn2r15	A	T	5: 109,445,312 (GRCm39)	D37E	probably benign	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp687	T	C	3: 94,915,225 (GRCm39)	D1092G	probably damaging	Het

Other mutations in Kifbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Kifbp	APN	10	62,395,118 (GRCm39)	nonsense	probably null
IGL02127:Kifbp	APN	10	62,414,128 (GRCm39)	missense	probably benign	0.00
IGL03304:Kifbp	APN	10	62,395,082 (GRCm39)	missense	probably damaging	1.00
IGL02980:Kifbp	UTSW	10	62,394,947 (GRCm39)	missense	probably damaging	1.00
R0317:Kifbp	UTSW	10	62,413,861 (GRCm39)	splice site	probably null
R0408:Kifbp	UTSW	10	62,401,832 (GRCm39)	missense	probably benign	0.37
R0462:Kifbp	UTSW	10	62,395,235 (GRCm39)	missense	probably damaging	1.00
R1469:Kifbp	UTSW	10	62,395,229 (GRCm39)	missense	probably damaging	0.96
R1469:Kifbp	UTSW	10	62,395,229 (GRCm39)	missense	probably damaging	0.96
R1503:Kifbp	UTSW	10	62,395,187 (GRCm39)	missense	probably damaging	0.98
R1830:Kifbp	UTSW	10	62,395,106 (GRCm39)	missense	probably damaging	1.00
R4486:Kifbp	UTSW	10	62,398,806 (GRCm39)	intron	probably benign
R4488:Kifbp	UTSW	10	62,398,806 (GRCm39)	intron	probably benign
R4489:Kifbp	UTSW	10	62,398,806 (GRCm39)	intron	probably benign
R5137:Kifbp	UTSW	10	62,414,020 (GRCm39)	missense	probably damaging	1.00
R5193:Kifbp	UTSW	10	62,395,175 (GRCm39)	missense	possibly damaging	0.81
R5212:Kifbp	UTSW	10	62,398,908 (GRCm39)	intron	probably benign
R5929:Kifbp	UTSW	10	62,395,181 (GRCm39)	missense	probably damaging	1.00
R6179:Kifbp	UTSW	10	62,399,029 (GRCm39)	nonsense	probably null
R6488:Kifbp	UTSW	10	62,395,437 (GRCm39)	splice site	probably null
R6513:Kifbp	UTSW	10	62,410,813 (GRCm39)	splice site	probably null
R6808:Kifbp	UTSW	10	62,410,923 (GRCm39)	missense	possibly damaging	0.90
R6900:Kifbp	UTSW	10	62,394,908 (GRCm39)	missense	probably damaging	1.00
R6916:Kifbp	UTSW	10	62,401,843 (GRCm39)	missense	probably benign	0.05
R7092:Kifbp	UTSW	10	62,414,079 (GRCm39)	missense	probably damaging	1.00
R7289:Kifbp	UTSW	10	62,401,895 (GRCm39)	missense	probably damaging	1.00
R7376:Kifbp	UTSW	10	62,394,843 (GRCm39)	missense	possibly damaging	0.89
R7672:Kifbp	UTSW	10	62,413,852 (GRCm39)	missense	probably benign	0.00
R8134:Kifbp	UTSW	10	62,413,756 (GRCm39)	missense	probably benign
R8809:Kifbp	UTSW	10	62,395,491 (GRCm39)	missense	possibly damaging	0.80
R8899:Kifbp	UTSW	10	62,399,282 (GRCm39)	intron	probably benign
R9094:Kifbp	UTSW	10	62,395,037 (GRCm39)	missense	probably damaging	0.98

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