Mutagenetix > Incidental Mutation

Incidental Mutation 'R0317:Kifbp'

25469

Institutional Source

Beutler Lab

Gene Symbol

Kifbp

Ensembl Gene

ENSMUSG00000036955

Gene Name

kinesin family binding protein

Synonyms

2510003E04Rik, Kif1bp

MMRRC Submission

038527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0317 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

62394249-62414846 bp(-) (GRCm39)

Type of Mutation

splice site (2169 bp from exon)

DNA Base Change (assembly)

A to T at 62413861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045866] [ENSMUST00000065887] [ENSMUST00000159704] [ENSMUST00000162525]

AlphaFold

Q6ZPU9

PDB Structure

Gu_alpha_helicase [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000045866

SMART Domains

Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075

Domain	Start	End	E-Value	Type
low complexity region	24	45	N/A	INTRINSIC
low complexity region	87	98	N/A	INTRINSIC
low complexity region	107	139	N/A	INTRINSIC
internal_repeat_1	140	160	2.96e-8	PROSPERO
low complexity region	162	171	N/A	INTRINSIC
low complexity region	199	208	N/A	INTRINSIC
internal_repeat_1	214	234	2.96e-8	PROSPERO
DEXDc	277	484	2.76e-56	SMART
HELICc	524	604	1.55e-27	SMART
low complexity region	682	688	N/A	INTRINSIC
Pfam:GUCT	692	787	1.6e-33	PFAM
low complexity region	827	843	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000065887
AA Change: V99E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: V99E

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

possibly damaging
Transcript: ENSMUST00000159704
AA Change: V99E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
AA Change: V99E

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

probably damaging
Transcript: ENSMUST00000162525
AA Change: V99E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
AA Change: V99E

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

noncoding transcript
Transcript: ENSMUST00000199616

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,459 (GRCm39)	V1774A	probably damaging	Het
Adam34	G	A	8: 44,105,288 (GRCm39)	P119L	probably benign	Het
Ap3b2	T	C	7: 81,113,429 (GRCm39)		probably null	Het
Arfip2	G	A	7: 105,286,430 (GRCm39)	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,330,965 (GRCm39)	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,122,697 (GRCm39)		probably null	Het
Cab39	A	G	1: 85,776,881 (GRCm39)	E322G	probably damaging	Het
Cad	C	A	5: 31,229,665 (GRCm39)	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,864,243 (GRCm39)		probably null	Het
Cela2a	A	T	4: 141,549,011 (GRCm39)		probably null	Het
Cert1	C	T	13: 96,770,629 (GRCm39)	R487*	probably null	Het
Ces1e	A	C	8: 93,950,667 (GRCm39)	I38S	probably benign	Het
Ces1f	A	T	8: 93,990,019 (GRCm39)	F364I	probably benign	Het
Chgb	A	G	2: 132,635,731 (GRCm39)	T558A	probably benign	Het
Cnpy4	C	T	5: 138,191,074 (GRCm39)	Q217*	probably null	Het
Crlf1	A	G	8: 70,951,249 (GRCm39)	T43A	probably benign	Het
Dnah7b	T	A	1: 46,173,816 (GRCm39)	M707K	probably damaging	Het
Ets2	G	A	16: 95,513,193 (GRCm39)	S123N	probably damaging	Het
Fry	T	C	5: 150,394,933 (GRCm39)	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,745 (GRCm39)	R120H	probably benign	Het
Gbf1	A	G	19: 46,242,459 (GRCm39)	T96A	probably benign	Het
Ggn	T	A	7: 28,870,515 (GRCm39)	M1K	probably null	Het
Gm5239	A	G	18: 35,669,969 (GRCm39)	T112A	probably benign	Het
Insyn2b	C	A	11: 34,352,826 (GRCm39)	D289E	possibly damaging	Het
Lrrc15	A	T	16: 30,092,561 (GRCm39)	H259Q	probably benign	Het
Lysmd4	A	G	7: 66,876,045 (GRCm39)	Y236C	probably damaging	Het
Med29	T	C	7: 28,086,284 (GRCm39)	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,193,633 (GRCm39)	D68Y	probably damaging	Het
Myh1	T	C	11: 67,108,338 (GRCm39)	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,636,388 (GRCm39)		probably null	Het
Or8g30	A	G	9: 39,230,757 (GRCm39)	I51T	probably benign	Het
Pdhx	A	G	2: 102,858,625 (GRCm39)	V393A	probably benign	Het
Pgm5	A	G	19: 24,801,763 (GRCm39)	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,023 (GRCm39)	I889F	probably benign	Het
Phactr4	T	A	4: 132,114,241 (GRCm39)	K51I	probably damaging	Het
Pum2	T	A	12: 8,778,754 (GRCm39)	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,632,835 (GRCm39)	S24P	probably damaging	Het
Rasef	T	C	4: 73,666,799 (GRCm39)	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,813,772 (GRCm39)	D339G	probably benign	Het
Recql5	A	G	11: 115,785,499 (GRCm39)	S666P	probably benign	Het
Rfc1	A	T	5: 65,453,395 (GRCm39)		probably null	Het
Scarb1	A	G	5: 125,366,756 (GRCm39)	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,837,182 (GRCm39)	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,335,584 (GRCm39)	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,154,174 (GRCm39)	Y104D	probably damaging	Het
Suz12	T	A	11: 79,889,904 (GRCm39)	D13E	probably damaging	Het
Tlr1	G	T	5: 65,083,310 (GRCm39)	C422*	probably null	Het
Tmco1	T	C	1: 167,153,462 (GRCm39)	V114A	probably damaging	Het
Trpa1	T	C	1: 14,951,856 (GRCm39)	T948A	probably benign	Het
Tub	A	T	7: 108,620,134 (GRCm39)	N93Y	probably damaging	Het
Ufsp2	G	A	8: 46,445,270 (GRCm39)		probably null	Het
Veph1	T	C	3: 66,079,396 (GRCm39)	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,805,130 (GRCm39)	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,240 (GRCm39)	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,901,583 (GRCm39)	S480G	probably benign	Het
Wnk4	T	C	11: 101,159,630 (GRCm39)	S612P	probably benign	Het
Zfp503	T	C	14: 22,036,527 (GRCm39)	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602 (GRCm39)	C628Y	possibly 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
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
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'- TTTTGGATGCAGAACTCCCGCC -3'
(R):5'- CACGTCGTAAATGAAGTGTCGCAAC -3'

Sequencing Primer
(F):5'- GCCTCAGCATCTCACCTG -3'
(R):5'- ATCCGCGAGAAGTTCCAG -3'

Posted On

2013-04-16