Mutagenetix > Incidental Mutation

Incidental Mutation 'R6513:Kifbp'

520018

Institutional Source

Beutler Lab

Gene Symbol

Kifbp

Ensembl Gene

ENSMUSG00000036955

Gene Name

kinesin family binding protein

Synonyms

2510003E04Rik, Kif1bp

MMRRC Submission

044640-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6513 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62394249-62414846 bp(-) (GRCm39)

Type of Mutation

splice site (16 bp from exon)

DNA Base Change (assembly)

T to C at 62410813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125162 (fasta)

Gene Model

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

AlphaFold

Q6ZPU9

Predicted Effect

probably null
Transcript: ENSMUST00000065887

SMART Domains

Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955

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 null
Transcript: ENSMUST00000159704

SMART Domains

Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955

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 null
Transcript: ENSMUST00000162525

SMART Domains

Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955

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: ENSMUST00000162759

SMART Domains

Protein: ENSMUSP00000125236
Gene: ENSMUSG00000036955

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: ENSMUST00000199616

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (62/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,654 (GRCm39)	S161G	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ankrd11	A	G	8: 123,616,919 (GRCm39)	V2290A	probably benign	Het
Aox4	A	G	1: 58,252,212 (GRCm39)	N29S	probably benign	Het
Arhgap17	T	C	7: 122,891,379 (GRCm39)	R592G	possibly damaging	Het
Caap1	A	T	4: 94,389,640 (GRCm39)	D231E	possibly damaging	Het
Cabp1	T	A	5: 115,307,193 (GRCm39)	M165L	possibly damaging	Het
Calhm4	T	A	10: 33,917,630 (GRCm39)	R274*	probably null	Het
Cep72	A	T	13: 74,206,582 (GRCm39)	L73H	probably damaging	Het
Cfap74	A	G	4: 155,525,743 (GRCm39)	S731G	probably null	Het
Dsc2	T	C	18: 20,179,295 (GRCm39)	I258V	probably benign	Het
Dsg1c	T	G	18: 20,407,687 (GRCm39)	N344K	probably benign	Het
Enah	A	G	1: 181,841,920 (GRCm39)		probably benign	Het
Fbn1	T	A	2: 125,225,591 (GRCm39)	S554C	probably damaging	Het
Fkrp	C	A	7: 16,545,037 (GRCm39)	R275L	possibly damaging	Het
Gbp4	C	T	5: 105,270,986 (GRCm39)	G215D	possibly damaging	Het
Gli2	G	A	1: 118,783,284 (GRCm39)	L239F	probably damaging	Het
Gpr146	A	G	5: 139,378,573 (GRCm39)	D125G	probably damaging	Het
Hectd4	C	A	5: 121,494,259 (GRCm39)		probably null	Het
Invs	G	A	4: 48,397,534 (GRCm39)	V370I	possibly damaging	Het
Kdm2b	A	G	5: 123,018,302 (GRCm39)	V1040A	probably damaging	Het
Kidins220	T	A	12: 25,088,434 (GRCm39)	V1059D	possibly damaging	Het
Kif26a	T	A	12: 112,141,926 (GRCm39)	S727T	probably damaging	Het
Klk1b27	A	G	7: 43,705,169 (GRCm39)	H112R	probably benign	Het
Krt72	T	G	15: 101,685,187 (GRCm39)		probably null	Het
Lactb	C	T	9: 66,878,172 (GRCm39)	R219H	probably damaging	Het
Lrig2	A	T	3: 104,373,045 (GRCm39)	I612N	probably damaging	Het
Meaf6	A	C	4: 124,983,697 (GRCm39)	N51T	probably damaging	Het
Mtap	A	G	4: 89,066,498 (GRCm39)	T36A	possibly damaging	Het
Myo3a	G	A	2: 22,412,143 (GRCm39)	G713S	probably damaging	Het
Nr4a3	C	T	4: 48,083,255 (GRCm39)	T596I	probably damaging	Het
Or10ak14	A	T	4: 118,611,224 (GRCm39)	C172*	probably null	Het
Or4f14	C	G	2: 111,743,228 (GRCm39)	G16R	possibly damaging	Het
Pam	A	G	1: 97,765,752 (GRCm39)	V759A	possibly damaging	Het
Pcare	T	A	17: 72,051,701 (GRCm39)	E1217V	probably damaging	Het
Pds5a	T	A	5: 65,772,944 (GRCm39)	I1220F	probably benign	Het
Phldb2	T	A	16: 45,568,240 (GRCm39)	M1222L	possibly damaging	Het
Phospho1	C	T	11: 95,721,513 (GRCm39)	A61V	possibly damaging	Het
Pnpla7	G	A	2: 24,906,550 (GRCm39)	V638I	possibly damaging	Het
Pramel34	C	A	5: 93,785,391 (GRCm39)		probably null	Het
Ptf1a	T	A	2: 19,451,848 (GRCm39)	D282E	probably damaging	Het
Ptgs2	A	T	1: 149,975,879 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,522,156 (GRCm39)	R471G	probably damaging	Het
Rptn	T	C	3: 93,303,419 (GRCm39)	S251P	possibly damaging	Het
Shcbp1	T	C	8: 4,794,507 (GRCm39)	M429V	probably benign	Het
Shprh	T	C	10: 11,062,637 (GRCm39)	L1248P	probably damaging	Het
Son	T	C	16: 91,456,835 (GRCm39)		probably benign	Het
Sppl3	T	C	5: 115,233,995 (GRCm39)	L355P	probably damaging	Het
Tbc1d31	A	T	15: 57,818,778 (GRCm39)	R794W	probably damaging	Het
Telo2	T	C	17: 25,320,386 (GRCm39)	Y766C	probably damaging	Het
Tfr2	A	G	5: 137,572,793 (GRCm39)		probably null	Het
Tle4	T	C	19: 14,429,056 (GRCm39)	D722G	probably damaging	Het
Tprg1l	A	G	4: 154,243,862 (GRCm39)	V98A	probably benign	Het
Trak1	C	T	9: 121,272,822 (GRCm39)	R237C	probably benign	Het
Vmn2r113	T	C	17: 23,177,715 (GRCm39)	I833T	probably damaging	Het
Vmn2r118	T	A	17: 55,915,093 (GRCm39)	S518C	probably damaging	Het
Vmn2r49	A	G	7: 9,710,524 (GRCm39)	I736T	probably damaging	Het
Wdr38	T	A	2: 38,889,970 (GRCm39)		probably null	Het
Wee2	A	G	6: 40,429,553 (GRCm39)	E180G	probably benign	Het
Zbtb1	T	C	12: 76,432,604 (GRCm39)	S197P	possibly damaging	Het
Zc3h7a	T	C	16: 10,976,629 (GRCm39)		probably null	Het
Zfp516	T	A	18: 82,973,835 (GRCm39)	L11Q	probably damaging	Het
Zfp623	G	A	15: 75,819,317 (GRCm39)	R91H	probably benign	Het
Zkscan7	G	A	9: 122,725,170 (GRCm39)	R713Q	probably benign	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
R3848:Kifbp	UTSW	10	62,405,249 (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
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'- CACCTCTAAAGAGAAGTTTCTGGG -3'
(R):5'- TGACTCACCCTCACTGGATG -3'

Sequencing Primer
(F):5'- CACCTCGTTTTATGTGCCAGGG -3'
(R):5'- ATGCGTCCAGTTACCGTG -3'

Posted On

2018-06-06