Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03409:Kif7'

421724

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif7

Ensembl Gene

ENSMUSG00000050382

Gene Name

kinesin family member 7

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03409

Quality Score

Status

Chromosome

Chromosomal Location

79698098-79715720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79707553 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 635 (E635G)

Ref Sequence

ENSEMBL: ENSMUSP00000139224 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000059836
AA Change: E635G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: E635G

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 benign
Transcript: ENSMUST00000178048
AA Change: E635G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: E635G

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 benign
Transcript: ENSMUST00000183846
AA Change: E635G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: E635G

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 benign
Transcript: ENSMUST00000184137
AA Change: E635G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: E635G

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	T	8: 123,965,023	M401K	possibly damaging	Het
Ablim3	T	A	18: 61,845,851	H203L	probably damaging	Het
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Aox2	T	G	1: 58,354,429	D1249E	possibly damaging	Het
Astn2	T	C	4: 65,435,186	I1116V	possibly damaging	Het
Atad3a	T	C	4: 155,747,350	D489G	probably damaging	Het
Caln1	G	T	5: 130,617,878	G52C	probably damaging	Het
Cbwd1	A	G	19: 24,922,766	V289A	probably benign	Het
Clcn7	A	G	17: 25,155,385	T467A	probably damaging	Het
Col17a1	A	T	19: 47,666,540	I599N	possibly damaging	Het
Cul2	T	A	18: 3,429,593	H547Q	probably damaging	Het
Cxcl14	T	C	13: 56,292,507	T80A	probably damaging	Het
Dscaml1	T	A	9: 45,670,103	Y407N	probably damaging	Het
Edc4	T	A	8: 105,885,116	I108N	probably damaging	Het
Exoc2	T	C	13: 30,940,737		probably benign	Het
Gm1110	T	G	9: 26,896,620	H290P	probably benign	Het
Gm16223	T	A	5: 42,067,993	W12R	unknown	Het
Herc2	C	A	7: 56,228,569	H4623Q	probably damaging	Het
Igkv18-36	A	T	6: 69,992,605	H68Q	possibly damaging	Het
Olfr1160	A	T	2: 88,005,895	N285K	probably damaging	Het
Olfr1214	A	T	2: 88,987,587	I205N	possibly damaging	Het
Olfr328	T	C	11: 58,551,562	K226E	probably benign	Het
Olfr618	T	A	7: 103,597,367	M17K	possibly damaging	Het
Pam	C	A	1: 97,864,329	A456S	probably benign	Het
Pgap3	T	C	11: 98,398,938	T76A	possibly damaging	Het
Pkd2	C	A	5: 104,489,349	Y609*	probably null	Het
Plcg2	A	G	8: 117,583,495	D362G	probably damaging	Het
Polr3h	C	A	15: 81,917,394	A94S	probably benign	Het
Rhod	T	C	19: 4,432,158	D76G	probably damaging	Het
Rims2	T	C	15: 39,456,733	V670A	probably damaging	Het
Rpap3	G	A	15: 97,681,739	T464M	possibly damaging	Het
Rufy1	T	A	11: 50,406,483	I381L	probably benign	Het
Slc1a4	T	C	11: 20,306,506	T442A	probably damaging	Het
Slc9b1	T	C	3: 135,394,909	S472P	probably damaging	Het
Tmtc3	T	C	10: 100,451,432	T501A	possibly damaging	Het
Tnpo3	C	A	6: 29,555,182	D801Y	probably damaging	Het
Ttc39b	T	C	4: 83,260,956	Y111C	probably damaging	Het
Ubr4	A	T	4: 139,399,929	R543*	probably null	Het
Vmn1r74	T	G	7: 11,847,313	L180R	probably damaging	Het
Vps45	T	G	3: 96,053,089	E80A	probably benign	Het
Zfp677	T	C	17: 21,396,845	Y55H	probably damaging	Het

Other mutations in Kif7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:Kif7	APN	7	79702278	missense	probably damaging	0.99
IGL01551:Kif7	APN	7	79710566	critical splice acceptor site	probably null
IGL01897:Kif7	APN	7	79701052	missense	probably damaging	0.97
IGL02541:Kif7	APN	7	79710880	missense	possibly damaging	0.46
IGL02873:Kif7	APN	7	79706759	missense	probably damaging	1.00
PIT4131001:Kif7	UTSW	7	79711069	missense	probably damaging	1.00
R0053:Kif7	UTSW	7	79702179	missense	probably benign
R0243:Kif7	UTSW	7	79699560	missense	possibly damaging	0.66
R0280:Kif7	UTSW	7	79698823	missense	probably benign
R0492:Kif7	UTSW	7	79713881	missense	probably damaging	1.00
R0563:Kif7	UTSW	7	79702272	missense	probably benign	0.00
R1557:Kif7	UTSW	7	79714157	start codon destroyed	probably null	0.01
R1637:Kif7	UTSW	7	79702837	missense	probably damaging	1.00
R1889:Kif7	UTSW	7	79710463	missense	probably damaging	1.00
R1934:Kif7	UTSW	7	79711538	missense	probably benign	0.03
R1988:Kif7	UTSW	7	79699241	missense	probably benign
R2259:Kif7	UTSW	7	79711589	missense	probably damaging	1.00
R2418:Kif7	UTSW	7	79698693	missense	probably benign	0.05
R2419:Kif7	UTSW	7	79698693	missense	probably benign	0.05
R2511:Kif7	UTSW	7	79702264	missense	probably damaging	1.00
R2975:Kif7	UTSW	7	79710260	missense	probably damaging	1.00
R3711:Kif7	UTSW	7	79710892	missense	probably benign	0.40
R3813:Kif7	UTSW	7	79713890	missense	probably damaging	1.00
R4258:Kif7	UTSW	7	79710513	nonsense	probably null
R4543:Kif7	UTSW	7	79707548	missense	probably benign	0.03
R4648:Kif7	UTSW	7	79709191	missense	probably damaging	1.00
R5650:Kif7	UTSW	7	79710979	missense	probably damaging	1.00
R5941:Kif7	UTSW	7	79711132	intron	probably benign
R6025:Kif7	UTSW	7	79704640	missense	probably benign	0.34
R6056:Kif7	UTSW	7	79714094	missense	possibly damaging	0.63
R6245:Kif7	UTSW	7	79702143	missense	probably damaging	1.00
R6392:Kif7	UTSW	7	79702186	missense	probably damaging	1.00
R6464:Kif7	UTSW	7	79714094	missense	possibly damaging	0.63
R7513:Kif7	UTSW	7	79711028	missense	possibly damaging	0.65
R7728:Kif7	UTSW	7	79710730	missense	possibly damaging	0.80
R8158:Kif7	UTSW	7	79704694	missense	probably damaging	1.00
R8494:Kif7	UTSW	7	79710397	missense	probably benign	0.17
X0063:Kif7	UTSW	7	79702278	missense	probably damaging	0.99

Posted On

2016-08-02