Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Kif7'

350485

Institutional Source

Beutler Lab

Gene Symbol

Kif7

Ensembl Gene

ENSMUSG00000050382

Gene Name

kinesin family member 7

Synonyms

MMRRC Submission

041909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79347846-79365468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79358939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 512 (D512G)

Ref Sequence

ENSEMBL: ENSMUSP00000139224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059836] [ENSMUST00000178048] [ENSMUST00000183846] [ENSMUST00000184137]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000035939

SMART Domains

Protein: ENSMUSP00000039696
Gene: ENSMUSG00000039133

Domain	Start	End	E-Value	Type
low complexity region	101	123	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000059836
AA Change: D512G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: D512G

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	927	944	N/A	INTRINSIC
low complexity region	979	993	N/A	INTRINSIC
low complexity region	1049	1061	N/A	INTRINSIC
coiled coil region	1113	1139	N/A	INTRINSIC
coiled coil region	1186	1205	N/A	INTRINSIC
low complexity region	1293	1304	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178048
AA Change: D512G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: D512G

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	908	918	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC
low complexity region	980	994	N/A	INTRINSIC
low complexity region	1050	1062	N/A	INTRINSIC
coiled coil region	1114	1140	N/A	INTRINSIC
coiled coil region	1187	1206	N/A	INTRINSIC
low complexity region	1294	1305	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183846
AA Change: D512G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: D512G

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	908	918	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC
low complexity region	980	994	N/A	INTRINSIC
low complexity region	1050	1062	N/A	INTRINSIC
coiled coil region	1114	1140	N/A	INTRINSIC
coiled coil region	1187	1206	N/A	INTRINSIC
low complexity region	1294	1305	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000184137
AA Change: D512G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: D512G

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	927	944	N/A	INTRINSIC
low complexity region	979	993	N/A	INTRINSIC
low complexity region	1049	1061	N/A	INTRINSIC
coiled coil region	1113	1139	N/A	INTRINSIC
coiled coil region	1186	1205	N/A	INTRINSIC
low complexity region	1293	1304	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197011

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, exencephaly, polydactyly, abnormal sternum, edema, abnormal ribs, and abnormal neurogenesis. Mice homozygous for an ENU-induced allele exhibit prenatal lethality, polydactyly, and abnormal neural tube development and neurogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,424,255 (GRCm39)	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,244,458 (GRCm39)	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,482,953 (GRCm39)	F352L	probably damaging	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,170 (GRCm39)	*129W	probably null	Het
Atp5pf	T	C	16: 84,625,343 (GRCm39)	M87V	probably benign	Het
Atp8b3	A	G	10: 80,361,457 (GRCm39)	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bbs2	A	T	8: 94,807,507 (GRCm39)	V429E	probably damaging	Het
Bccip	C	T	7: 133,316,628 (GRCm39)	L83F	probably damaging	Het
Brd9	G	A	13: 74,088,895 (GRCm39)	V198I	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Ccdc110	A	T	8: 46,395,705 (GRCm39)	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,852,907 (GRCm39)	L343F	probably benign	Het
Cep350	A	G	1: 155,778,344 (GRCm39)	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 105,082,952 (GRCm39)	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Crp	A	G	1: 172,525,704 (GRCm39)	M1V	probably null	Het
Csmd1	G	A	8: 16,048,788 (GRCm39)	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,449,132 (GRCm39)	I74F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcaf1	A	T	9: 106,742,876 (GRCm39)		probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock7	C	A	4: 98,857,881 (GRCm39)	E1448*	probably null	Het
Dpf2	C	T	19: 5,957,109 (GRCm39)	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Etnk1	A	G	6: 143,141,000 (GRCm39)	Y248C	probably damaging	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Gk2	T	C	5: 97,603,579 (GRCm39)	S420G	probably benign	Het
Gm26596	T	C	10: 112,765,064 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,536,543 (GRCm39)	N27K	possibly damaging	Het
Gskip	A	G	12: 105,664,988 (GRCm39)	D9G	probably benign	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
Hk1	T	G	10: 62,140,558 (GRCm39)	S105R	probably benign	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Idnk	A	G	13: 58,310,683 (GRCm39)	D67G	probably benign	Het
Igfbp5	G	T	1: 72,903,222 (GRCm39)	H118N	probably benign	Het
Irf4	A	T	13: 30,947,580 (GRCm39)	Y427F	probably benign	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Lamb3	T	A	1: 193,013,665 (GRCm39)	I513N	probably damaging	Het
Lipo3	A	G	19: 33,760,860 (GRCm39)	L174P	probably damaging	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mast2	G	T	4: 116,172,036 (GRCm39)	Y637*	probably null	Het
Matn2	T	C	15: 34,428,679 (GRCm39)	I681T	probably damaging	Het
Med18	A	T	4: 132,190,274 (GRCm39)	V37D	possibly damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mpg	C	A	11: 32,180,034 (GRCm39)	C187*	probably null	Het
Mtmr14	A	G	6: 113,237,567 (GRCm39)	E256G	probably benign	Het
Myo7b	C	T	18: 32,100,178 (GRCm39)		probably null	Het
Nhsl3	G	T	4: 129,115,733 (GRCm39)	T977K	probably benign	Het
Nmt1	T	A	11: 102,954,743 (GRCm39)	V425D	probably damaging	Het
Nynrin	T	A	14: 56,110,351 (GRCm39)	Y1819*	probably null	Het
Or10ak16	A	G	4: 118,751,147 (GRCm39)	N289S	possibly damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Phc1	T	C	6: 122,298,872 (GRCm39)	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,634,638 (GRCm39)	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,032,502 (GRCm39)	D246V	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Ror2	A	T	13: 53,439,536 (GRCm39)	C9*	probably null	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Smarcad1	A	G	6: 65,044,073 (GRCm39)	E215G	probably benign	Het
Spag16	G	A	1: 69,866,194 (GRCm39)	R11Q	probably null	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tbc1d5	A	G	17: 51,043,251 (GRCm39)	C746R	probably benign	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trem1	G	A	17: 48,551,590 (GRCm39)	V84I	probably benign	Het
Tspan5	T	C	3: 138,604,076 (GRCm39)	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044 (GRCm39)	R647G	probably benign	Het
Usp50	T	A	2: 126,619,953 (GRCm39)	I120F	probably damaging	Het
Vil1	T	C	1: 74,471,457 (GRCm39)	M746T	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	Het

Other mutations in Kif7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:Kif7	APN	7	79,352,026 (GRCm39)	missense	probably damaging	0.99
IGL01551:Kif7	APN	7	79,360,314 (GRCm39)	critical splice acceptor site	probably null
IGL01897:Kif7	APN	7	79,350,800 (GRCm39)	missense	probably damaging	0.97
IGL02541:Kif7	APN	7	79,360,628 (GRCm39)	missense	possibly damaging	0.46
IGL02873:Kif7	APN	7	79,356,507 (GRCm39)	missense	probably damaging	1.00
IGL03409:Kif7	APN	7	79,357,301 (GRCm39)	missense	probably benign	0.04
PIT4131001:Kif7	UTSW	7	79,360,817 (GRCm39)	missense	probably damaging	1.00
R0053:Kif7	UTSW	7	79,351,927 (GRCm39)	missense	probably benign
R0243:Kif7	UTSW	7	79,349,308 (GRCm39)	missense	possibly damaging	0.66
R0280:Kif7	UTSW	7	79,348,571 (GRCm39)	missense	probably benign
R0492:Kif7	UTSW	7	79,363,629 (GRCm39)	missense	probably damaging	1.00
R0563:Kif7	UTSW	7	79,352,020 (GRCm39)	missense	probably benign	0.00
R1557:Kif7	UTSW	7	79,363,905 (GRCm39)	start codon destroyed	probably null	0.01
R1637:Kif7	UTSW	7	79,352,585 (GRCm39)	missense	probably damaging	1.00
R1889:Kif7	UTSW	7	79,360,211 (GRCm39)	missense	probably damaging	1.00
R1934:Kif7	UTSW	7	79,361,286 (GRCm39)	missense	probably benign	0.03
R1988:Kif7	UTSW	7	79,348,989 (GRCm39)	missense	probably benign
R2259:Kif7	UTSW	7	79,361,337 (GRCm39)	missense	probably damaging	1.00
R2418:Kif7	UTSW	7	79,348,441 (GRCm39)	missense	probably benign	0.05
R2419:Kif7	UTSW	7	79,348,441 (GRCm39)	missense	probably benign	0.05
R2511:Kif7	UTSW	7	79,352,012 (GRCm39)	missense	probably damaging	1.00
R2975:Kif7	UTSW	7	79,360,008 (GRCm39)	missense	probably damaging	1.00
R3711:Kif7	UTSW	7	79,360,640 (GRCm39)	missense	probably benign	0.40
R3813:Kif7	UTSW	7	79,363,638 (GRCm39)	missense	probably damaging	1.00
R4258:Kif7	UTSW	7	79,360,261 (GRCm39)	nonsense	probably null
R4543:Kif7	UTSW	7	79,357,296 (GRCm39)	missense	probably benign	0.03
R5650:Kif7	UTSW	7	79,360,727 (GRCm39)	missense	probably damaging	1.00
R5941:Kif7	UTSW	7	79,360,880 (GRCm39)	intron	probably benign
R6025:Kif7	UTSW	7	79,354,388 (GRCm39)	missense	probably benign	0.34
R6056:Kif7	UTSW	7	79,363,842 (GRCm39)	missense	possibly damaging	0.63
R6245:Kif7	UTSW	7	79,351,891 (GRCm39)	missense	probably damaging	1.00
R6392:Kif7	UTSW	7	79,351,934 (GRCm39)	missense	probably damaging	1.00
R6464:Kif7	UTSW	7	79,363,842 (GRCm39)	missense	possibly damaging	0.63
R7513:Kif7	UTSW	7	79,360,776 (GRCm39)	missense	possibly damaging	0.65
R7728:Kif7	UTSW	7	79,360,478 (GRCm39)	missense	possibly damaging	0.80
R8158:Kif7	UTSW	7	79,354,442 (GRCm39)	missense	probably damaging	1.00
R8494:Kif7	UTSW	7	79,360,145 (GRCm39)	missense	probably benign	0.17
R8844:Kif7	UTSW	7	79,357,280 (GRCm39)	missense	possibly damaging	0.69
R8880:Kif7	UTSW	7	79,348,650 (GRCm39)	missense	probably benign	0.05
R8944:Kif7	UTSW	7	79,360,005 (GRCm39)	missense	probably damaging	1.00
R9142:Kif7	UTSW	7	79,356,585 (GRCm39)	missense	probably benign	0.00
R9203:Kif7	UTSW	7	79,354,472 (GRCm39)	missense	probably damaging	1.00
X0063:Kif7	UTSW	7	79,352,026 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTCCCTCGTCACAGTGAG -3'
(R):5'- CAAGGTTGCAAAGCAGATCTTG -3'

Sequencing Primer
(F):5'- TCGTCACAGTGAGGCACCAC -3'
(R):5'- TAGGACTGGGTGAGCCG -3'

Posted On

2015-10-08