Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Kif7'

37453

Institutional Source

Beutler Lab

Gene Symbol

Kif7

Ensembl Gene

ENSMUSG00000050382

Gene Name

kinesin family member 7

Synonyms

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0280 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79698098-79715720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79698823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1257 (S1257P)

Ref Sequence

ENSEMBL: ENSMUSP00000139224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035977] [ENSMUST00000059836] [ENSMUST00000178048] [ENSMUST00000183846] [ENSMUST00000184137] [ENSMUST00000206591] [ENSMUST00000206622]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035977

SMART Domains

Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
Pfam:Treslin_N	211	1005	N/A	PFAM
low complexity region	1186	1197	N/A	INTRINSIC
low complexity region	1220	1235	N/A	INTRINSIC
low complexity region	1339	1359	N/A	INTRINSIC
low complexity region	1472	1480	N/A	INTRINSIC
low complexity region	1496	1514	N/A	INTRINSIC
low complexity region	1630	1643	N/A	INTRINSIC
low complexity region	1694	1707	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000059836
AA Change: S1257P

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

SMART Domains

Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: S1257P

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: S1258P

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

SMART Domains

Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: S1258P

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: S1258P

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

SMART Domains

Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: S1258P

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: S1257P

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

SMART Domains

Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: S1257P

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: ENSMUST00000206591

Predicted Effect

probably benign
Transcript: ENSMUST00000206622

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ankrd16	T	G	2: 11,781,501	V187G	probably damaging	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	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
IGL03409:Kif7	APN	7	79707553	missense	probably benign	0.04
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
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
R8844:Kif7	UTSW	7	79707532	missense	possibly damaging	0.69
R8880:Kif7	UTSW	7	79698902	missense	probably benign	0.05
R8944:Kif7	UTSW	7	79710257	missense	probably damaging	1.00
R9142:Kif7	UTSW	7	79706837	missense	probably benign	0.00
R9203:Kif7	UTSW	7	79704724	missense	probably damaging	1.00
X0063:Kif7	UTSW	7	79702278	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAATCTGAAGCAGGGTCTGACCAAG -3'
(R):5'- CCACTTAGCCAAAGATGATCCCGAG -3'

Sequencing Primer
(F):5'- GGCAAGGGTCCAAAGTTCC -3'
(R):5'- CCAAAGATGATCCCGAGTTTCTG -3'

Posted On

2013-05-23