Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Kif1bp'

632182

Institutional Source

Beutler Lab

Gene Symbol

Kif1bp

Ensembl Gene

ENSMUSG00000036955

Gene Name

KIF1 binding protein

Synonyms

2510003E04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8134 (G1)

Quality Score

180.009

Status

Validated

Chromosome

Chromosomal Location

62538626-62578457 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62577977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 134 (Y134C)

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: Y134C

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

SMART Domains

Protein: ENSMUSP00000065160
Gene: ENSMUSG00000036955
AA Change: Y134C

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: Y134C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134770
Gene: ENSMUSG00000036955
AA Change: Y134C

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: Y134C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125162
Gene: ENSMUSG00000036955
AA Change: Y134C

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Kif1bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Kif1bp	APN	10	62559339	nonsense	probably null
IGL02127:Kif1bp	APN	10	62578349	missense	probably benign	0.00
IGL03304:Kif1bp	APN	10	62559303	missense	probably damaging	1.00
IGL02980:Kif1bp	UTSW	10	62559168	missense	probably damaging	1.00
R0317:Kif1bp	UTSW	10	62578082	splice site	probably null
R0408:Kif1bp	UTSW	10	62566053	missense	probably benign	0.37
R0462:Kif1bp	UTSW	10	62559456	missense	probably damaging	1.00
R1469:Kif1bp	UTSW	10	62559450	missense	probably damaging	0.96
R1469:Kif1bp	UTSW	10	62559450	missense	probably damaging	0.96
R1503:Kif1bp	UTSW	10	62559408	missense	probably damaging	0.98
R1830:Kif1bp	UTSW	10	62559327	missense	probably damaging	1.00
R3848:Kif1bp	UTSW	10	62569470	missense	probably damaging	1.00
R4486:Kif1bp	UTSW	10	62563027	intron	probably benign
R4488:Kif1bp	UTSW	10	62563027	intron	probably benign
R4489:Kif1bp	UTSW	10	62563027	intron	probably benign
R5137:Kif1bp	UTSW	10	62578241	missense	probably damaging	1.00
R5193:Kif1bp	UTSW	10	62559396	missense	possibly damaging	0.81
R5212:Kif1bp	UTSW	10	62563129	intron	probably benign
R5929:Kif1bp	UTSW	10	62559402	missense	probably damaging	1.00
R6179:Kif1bp	UTSW	10	62563250	nonsense	probably null
R6488:Kif1bp	UTSW	10	62559658	splice site	probably null
R6513:Kif1bp	UTSW	10	62575034	splice site	probably null
R6808:Kif1bp	UTSW	10	62575144	missense	possibly damaging	0.90
R6900:Kif1bp	UTSW	10	62559129	missense	probably damaging	1.00
R6916:Kif1bp	UTSW	10	62566064	missense	probably benign	0.05
R7092:Kif1bp	UTSW	10	62578300	missense	probably damaging	1.00
R7289:Kif1bp	UTSW	10	62566116	missense	probably damaging	1.00
R7376:Kif1bp	UTSW	10	62559064	missense	possibly damaging	0.89
R7672:Kif1bp	UTSW	10	62578073	missense	probably benign	0.00
R8809:Kif1bp	UTSW	10	62559712	missense	possibly damaging	0.80
R8899:Kif1bp	UTSW	10	62563503	intron	probably benign
R9094:Kif1bp	UTSW	10	62559258	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCCAGGATTACGGAAAGTAGC -3'
(R):5'- TACAAGTCCAAGTACGGCGC -3'

Sequencing Primer
(F):5'- TTCGCTATGAAACCCAGGCTAG -3'
(R):5'- CTGCTGACGATGGGCCG -3'

Posted On

2020-06-30