Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Kifbp'

460105

Institutional Source

Beutler Lab

Gene Symbol

Kifbp

Ensembl Gene

ENSMUSG00000036955

Gene Name

kinesin family binding protein

Synonyms

2510003E04Rik, Kif1bp

MMRRC Submission

044124-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62394249-62414846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62395181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 487 (I487N)

Ref Sequence

ENSEMBL: ENSMUSP00000065160 (fasta)

Gene Model

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

AlphaFold

Q6ZPU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000065887
AA Change: I487N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: I487N

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 benign
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: ENSMUST00000162263

Predicted Effect

probably benign
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: ENSMUST00000162648

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: ENSMUST00000208223

Meta Mutation Damage Score

0.4519

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

99% (84/85)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	C	T	14: 52,001,708 (GRCm39)	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,819,633 (GRCm39)	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,095,277 (GRCm39)	E137G	possibly damaging	Het
Car6	T	C	4: 150,280,592 (GRCm39)	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993 (GRCm39)	L463Q	probably damaging	Het
Casz1	T	A	4: 149,023,426 (GRCm39)	L491Q	probably damaging	Het
Casz1	C	T	4: 149,023,153 (GRCm39)	S400L	probably damaging	Het
Catsperd	A	T	17: 56,959,493 (GRCm39)	H311L	probably benign	Het
Ccdc83	A	G	7: 89,885,524 (GRCm39)		probably benign	Het
Cd163	G	A	6: 124,303,568 (GRCm39)		probably null	Het
Cd244a	A	T	1: 171,386,935 (GRCm39)	R15W	probably damaging	Het
Ces3b	A	G	8: 105,819,797 (GRCm39)	K490R	probably damaging	Het
Chordc1	T	C	9: 18,215,658 (GRCm39)	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,266,788 (GRCm39)	T1140S	probably benign	Het
Col6a4	T	C	9: 105,940,243 (GRCm39)	E1229G	probably benign	Het
Cr2	A	G	1: 194,853,419 (GRCm39)	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,007,048 (GRCm39)	H327Q	possibly damaging	Het
Depdc5	G	T	5: 33,132,850 (GRCm39)	E646*	probably null	Het
Dnah5	G	A	15: 28,311,353 (GRCm39)	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,354 (GRCm39)	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,601,019 (GRCm39)	Y39H	probably damaging	Het
Dsp	A	T	13: 38,379,410 (GRCm39)	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,427,457 (GRCm39)	W447R	probably damaging	Het
Gabra6	T	A	11: 42,208,389 (GRCm39)	M148L	probably damaging	Het
Gcfc2	T	A	6: 81,923,580 (GRCm39)	V32D	probably damaging	Het
Ginm1	G	T	10: 7,649,814 (GRCm39)	L160I	probably benign	Het
Gm19345	A	G	7: 19,591,747 (GRCm39)	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,204,011 (GRCm39)	R268*	probably null	Het
Hacl1	T	A	14: 31,338,345 (GRCm39)	M411L	probably benign	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,453,047 (GRCm39)	E5423*	probably null	Het
Ipo4	T	C	14: 55,868,646 (GRCm39)	H454R	probably benign	Het
Itpr1	A	T	6: 108,400,297 (GRCm39)	I1693F	probably benign	Het
Kif12	T	C	4: 63,086,754 (GRCm39)	T361A	probably damaging	Het
Kif21b	A	G	1: 136,078,945 (GRCm39)	E431G	probably damaging	Het
Kif27	C	T	13: 58,491,784 (GRCm39)	A452T	probably benign	Het
Lhcgr	A	T	17: 89,050,436 (GRCm39)	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,960,472 (GRCm39)	K294I	probably damaging	Het
Mapk3	A	C	7: 126,359,030 (GRCm39)		probably benign	Het
Mogat1	A	T	1: 78,500,370 (GRCm39)	I145F	probably benign	Het
Mtmr7	T	C	8: 41,011,399 (GRCm39)		probably null	Het
Ndufaf6	T	C	4: 11,051,150 (GRCm39)	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,718,185 (GRCm39)	Q117K	probably damaging	Het
Odad3	T	C	9: 21,913,718 (GRCm39)	E18G	possibly damaging	Het
Olfm3	T	G	3: 114,895,529 (GRCm39)	I137S	probably damaging	Het
Or4f7d-ps1	T	A	2: 111,674,631 (GRCm39)		noncoding transcript	Het
Otub1	G	A	19: 7,177,350 (GRCm39)	S99F	probably damaging	Het
Padi2	T	G	4: 140,671,848 (GRCm39)		probably null	Het
Paip1	C	T	13: 119,582,326 (GRCm39)	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,158,276 (GRCm39)	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phkb	A	G	8: 86,697,543 (GRCm39)	I451V	probably benign	Het
Plcg1	T	A	2: 160,595,522 (GRCm39)		probably null	Het
Prg4	A	G	1: 150,329,880 (GRCm39)	F722S	probably benign	Het
Prss3	T	C	6: 41,353,738 (GRCm39)		probably null	Het
Psmd3	C	T	11: 98,586,422 (GRCm39)	P530L	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sema3f	T	C	9: 107,569,392 (GRCm39)	Y82C	probably damaging	Het
Shoc1	G	T	4: 59,092,497 (GRCm39)	S228*	probably null	Het
Slc35b2	G	T	17: 45,877,587 (GRCm39)	W238L	probably benign	Het
Sox12	T	C	2: 152,239,308 (GRCm39)	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Tlr7	C	A	X: 166,089,878 (GRCm39)	G536V	probably damaging	Het
Tspan12	A	G	6: 21,772,746 (GRCm39)	S220P	possibly damaging	Het
Utp11	T	C	4: 124,576,036 (GRCm39)	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,990,949 (GRCm39)	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,001,920 (GRCm39)	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,813,282 (GRCm39)	F548I	probably damaging	Het
Zup1	A	T	10: 33,825,043 (GRCm39)	Y146*	probably null	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
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'- AGACGAGCTACCCGGAATTTAG -3'
(R):5'- TTGAAGTTGTCCAGGACCACAG -3'

Sequencing Primer
(F):5'- GCTACCCGGAATTTAGCTAACATGG -3'
(R):5'- CAGCGCTCTGTTCAAGGTG -3'

Posted On

2017-02-28