Mutagenetix > Incidental Mutation

Incidental Mutation 'R7672:Kifbp'

592245

Institutional Source

Beutler Lab

Gene Symbol

Kifbp

Ensembl Gene

ENSMUSG00000036955

Gene Name

kinesin family binding protein

Synonyms

2510003E04Rik, Kif1bp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7672 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62394249-62414846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62413852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 102 (I102T)

Ref Sequence

ENSEMBL: ENSMUSP00000065160 (fasta)

Gene Model

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

AlphaFold

Q6ZPU9

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000065887
AA Change: I102T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: I102T

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
AA Change: I102T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
AA Change: I102T

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

probably benign
Transcript: ENSMUST00000162525
AA Change: I102T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
AA Change: I102T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 127,836,191 (GRCm39)	H134R	probably damaging	Het
Adcy4	A	G	14: 56,018,362 (GRCm39)	M195T	probably benign	Het
Aktip	T	C	8: 91,856,285 (GRCm39)	N64S	possibly damaging	Het
Aldoart1	C	A	4: 72,770,747 (GRCm39)	M20I	probably benign	Het
Alms1	T	C	6: 85,592,333 (GRCm39)	L395P	probably damaging	Het
Ankrd9	C	A	12: 110,943,180 (GRCm39)	V252F	probably benign	Het
Apof	A	T	10: 128,104,885 (GRCm39)	H13L	probably benign	Het
Bahcc1	T	C	11: 120,174,172 (GRCm39)	F1644S	possibly damaging	Het
Baz2a	A	G	10: 127,959,726 (GRCm39)	D1377G	possibly damaging	Het
Bbox1	T	A	2: 110,135,794 (GRCm39)	I62F	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TCTGTGGTCACTGGT	TCTGTGGTCACTGGTGCTGTGGTCACTGGT	3: 95,795,487 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTG	3: 95,795,455 (GRCm39)		probably benign	Het
Bcas3	C	T	11: 85,286,213 (GRCm39)	R124*	probably null	Het
Bpnt1	T	C	1: 185,078,879 (GRCm39)	V114A	probably damaging	Het
Ccnd1	C	T	7: 144,487,793 (GRCm39)	R228H	possibly damaging	Het
Cd244a	T	C	1: 171,404,853 (GRCm39)	V235A	probably benign	Het
Cramp1	C	T	17: 25,201,440 (GRCm39)	E681K	probably damaging	Het
Crebbp	C	T	16: 3,902,574 (GRCm39)	A2222T	probably benign	Het
Cyp1a2	T	A	9: 57,589,620 (GRCm39)	T65S	probably benign	Het
Cyp26b1	T	G	6: 84,561,351 (GRCm39)	K104Q	probably benign	Het
D430041D05Rik	T	C	2: 104,071,581 (GRCm39)	I556V	probably benign	Het
Dnase1l2	A	G	17: 24,661,219 (GRCm39)	L102P	probably damaging	Het
Eef1ece2	C	A	16: 20,457,417 (GRCm39)	A483E	probably damaging	Het
Elac1	C	T	18: 73,871,925 (GRCm39)	G357S	probably benign	Het
Enam	C	A	5: 88,651,830 (GRCm39)	T1113N	possibly damaging	Het
Eogt	A	T	6: 97,090,870 (GRCm39)	I423N	probably damaging	Het
Epc2	T	C	2: 49,435,831 (GRCm39)	S612P	possibly damaging	Het
Fam107b	T	C	2: 3,773,959 (GRCm39)	V24A	probably damaging	Het
Fhip2a	A	G	19: 57,373,750 (GRCm39)	H670R	possibly damaging	Het
Foxj3	C	T	4: 119,477,429 (GRCm39)	P413L	unknown	Het
Frg1	T	C	8: 41,870,040 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,820,455 (GRCm39)	V5396D	possibly damaging	Het
Hdlbp	T	C	1: 93,364,821 (GRCm39)	T149A	possibly damaging	Het
Heatr1	A	T	13: 12,453,545 (GRCm39)	Q2140L	probably damaging	Het
Iqcd	T	C	5: 120,744,881 (GRCm39)	L403P	probably damaging	Het
Kpna2	T	G	11: 106,879,789 (GRCm39)	N505T	probably benign	Het
Lipo3	T	A	19: 33,757,785 (GRCm39)	E228V	probably benign	Het
Map4k3	C	T	17: 80,922,500 (GRCm39)	V474I	possibly damaging	Het
Mrpl11	T	C	19: 5,012,424 (GRCm39)	S2P	probably damaging	Het
Mug2	A	G	6: 122,017,678 (GRCm39)	I472V	probably benign	Het
Myom1	G	A	17: 71,391,235 (GRCm39)	V915M	possibly damaging	Het
Nedd9	A	T	13: 41,492,198 (GRCm39)	I104N	possibly damaging	Het
Nphp3	A	G	9: 103,909,159 (GRCm39)	M790V	probably benign	Het
Nr3c2	C	T	8: 77,635,838 (GRCm39)	P313L	probably damaging	Het
Obsl1	A	G	1: 75,469,365 (GRCm39)	V1192A	probably benign	Het
Or10j2	C	T	1: 173,098,440 (GRCm39)	R233W	probably benign	Het
Or52e7	A	G	7: 104,684,750 (GRCm39)	H115R	probably damaging	Het
Or5t16	T	C	2: 86,818,663 (GRCm39)	I286V	possibly damaging	Het
Prr5l	T	G	2: 101,565,083 (GRCm39)	E151A	probably damaging	Het
Psmb8	G	T	17: 34,417,404 (GRCm39)	R11L	probably benign	Het
Ptprg	T	A	14: 12,211,668 (GRCm38)	H983Q	probably benign	Het
Ptprj	T	C	2: 90,290,940 (GRCm39)	N600D	possibly damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rc3h1	A	G	1: 160,778,454 (GRCm39)	S460G	probably damaging	Het
Rhot2	A	G	17: 26,062,079 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,927 (GRCm39)	T726A	probably damaging	Het
Samd9l	G	A	6: 3,373,646 (GRCm39)	T1205I	probably benign	Het
Sh2b3	C	T	5: 121,956,822 (GRCm39)		probably null	Het
Slc22a18	G	T	7: 143,044,557 (GRCm39)	C170F	probably damaging	Het
Slc24a1	G	A	9: 64,855,209 (GRCm39)	T566I	unknown	Het
Slc4a5	T	A	6: 83,237,517 (GRCm39)	C167S	probably damaging	Het
Slc8b1	T	G	5: 120,671,100 (GRCm39)	V579G	probably damaging	Het
Snrnp200	T	C	2: 127,063,822 (GRCm39)	V667A	probably damaging	Het
Sp8	C	A	12: 118,813,070 (GRCm39)	S308R	possibly damaging	Het
Srsf9	T	A	5: 115,468,619 (GRCm39)	V85E	probably damaging	Het
Syne1	T	C	10: 5,168,527 (GRCm39)	I5285V	probably benign	Het
Tmem245	T	C	4: 56,947,069 (GRCm39)	I115V	probably benign	Het
Triqk	A	G	4: 12,980,502 (GRCm39)	D82G	probably benign	Het
Trmt11	A	T	10: 30,463,520 (GRCm39)	S198R	probably damaging	Het
Ube4b	C	T	4: 149,471,661 (GRCm39)	R75Q	probably benign	Het
Ugt3a1	C	T	15: 9,310,779 (GRCm39)	Q354*	probably null	Het
Vmn1r202	A	G	13: 22,685,850 (GRCm39)	V189A	probably benign	Het
Vmn2r26	A	G	6: 124,016,606 (GRCm39)	I357V	probably benign	Het
Wdr6	T	C	9: 108,450,947 (GRCm39)	K914R	probably benign	Het
Zfat	T	C	15: 68,130,535 (GRCm39)	M1V	probably null	Het
Zfp207	A	G	11: 80,280,116 (GRCm39)	M171V	probably benign	Het
Zfp568	C	T	7: 29,697,212 (GRCm39)	T44I	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
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
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'- CTGCCCAGGATTACGGAAAG -3'
(R):5'- TACAAGTCCAAGTACGGCGC -3'

Sequencing Primer
(F):5'- CCTAGTACTGGAATTTCAGGCCG -3'
(R):5'- CGCGCTGTTGGAGGAGG -3'

Posted On

2019-11-12