Mutagenetix > Incidental Mutation

Incidental Mutation 'R9142:Kif7'

694389

Institutional Source

Beutler Lab

Gene Symbol

Kif7

Ensembl Gene

ENSMUSG00000050382

Gene Name

kinesin family member 7

Synonyms

MMRRC Submission

068934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79347846-79365468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79356585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 702 (M702K)

Ref Sequence

ENSEMBL: ENSMUSP00000136993 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059836
AA Change: M702K

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

SMART Domains

Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: M702K

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: M702K

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

SMART Domains

Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: M702K

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: M702K

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

SMART Domains

Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: M702K

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

SMART Domains

Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: M702K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	C	A	4: 126,215,360 (GRCm39)	G35V	probably damaging	Het
Apob	A	C	12: 8,062,705 (GRCm39)	D3729A	possibly damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Arap3	G	A	18: 38,112,934 (GRCm39)	A1092V	possibly damaging	Het
Arid3a	T	C	10: 79,787,612 (GRCm39)	S550P	unknown	Het
Armc2	T	G	10: 41,851,404 (GRCm39)	E259D	probably benign	Het
Atp13a2	A	G	4: 140,729,364 (GRCm39)	D566G	probably damaging	Het
Bnc2	A	G	4: 84,474,111 (GRCm39)	C12R	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cc2d2b	C	T	19: 40,753,845 (GRCm39)	R123*	probably null	Het
Cdc37l1	T	A	19: 28,989,402 (GRCm39)	H286Q	possibly damaging	Het
Cfap54	A	T	10: 92,820,097 (GRCm39)	L1239Q	possibly damaging	Het
Cfap58	T	C	19: 47,974,993 (GRCm39)		probably null	Het
Col6a3	A	T	1: 90,706,566 (GRCm39)	D2789E	unknown	Het
Ctnna2	G	T	6: 76,879,423 (GRCm39)		probably benign	Het
Dazl	A	G	17: 50,590,178 (GRCm39)	V271A	probably benign	Het
Dennd4c	A	T	4: 86,755,637 (GRCm39)	N1610Y	probably benign	Het
Dusp13b	T	A	14: 21,792,756 (GRCm39)	K56N	probably benign	Het
Erbb2	T	A	11: 98,312,884 (GRCm39)	I149N	probably damaging	Het
Erbb4	A	T	1: 68,388,552 (GRCm39)	C217S	probably damaging	Het
Fbxw21	A	G	9: 108,985,413 (GRCm39)	C122R	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Foxm1	T	A	6: 128,344,298 (GRCm39)	I182N	probably damaging	Het
Ggnbp2	T	C	11: 84,730,886 (GRCm39)	N381S	possibly damaging	Het
Gja3	T	C	14: 57,274,048 (GRCm39)	E108G	probably benign	Het
Gm40460	C	A	7: 141,794,499 (GRCm39)	G106V	unknown	Het
Gm9736	A	G	10: 77,586,849 (GRCm39)	C114R	unknown	Het
Gpbp1	A	T	13: 111,563,033 (GRCm39)	D492E	unknown	Het
Gper1	T	C	5: 139,412,312 (GRCm39)	V219A	possibly damaging	Het
Gtf2e1	C	T	16: 37,356,364 (GRCm39)	R56Q	probably benign	Het
H2ac10	T	C	13: 23,718,151 (GRCm39)	L24P	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Kat6a	T	A	8: 23,430,072 (GRCm39)	M1809K	unknown	Het
Kdm2b	A	T	5: 123,127,112 (GRCm39)		probably benign	Het
Lrrtm4	T	A	6: 79,999,426 (GRCm39)	N279K	probably damaging	Het
Mcrip1	G	A	11: 120,435,542 (GRCm39)	P31L	probably damaging	Het
Mettl25b	A	G	3: 87,831,195 (GRCm39)	I444T	probably benign	Het
Nf1	T	A	11: 79,362,315 (GRCm39)	S1497R	probably damaging	Het
Nf1	T	A	11: 79,366,688 (GRCm39)	I1607N	probably damaging	Het
Nrde2	G	T	12: 100,117,518 (GRCm39)	T47K	probably benign	Het
Or5w12	C	T	2: 87,502,313 (GRCm39)	V133I	probably benign	Het
Or6b2b	T	G	1: 92,419,411 (GRCm39)	E22A	probably benign	Het
Or6c1	T	C	10: 129,518,285 (GRCm39)	T108A	probably benign	Het
Ppargc1a	G	A	5: 51,652,146 (GRCm39)	T184I	possibly damaging	Het
Ppp1r15a	T	C	7: 45,173,920 (GRCm39)	D296G	probably damaging	Het
Prl7c1	C	T	13: 27,964,751 (GRCm39)		probably benign	Het
Prss42	G	T	9: 110,628,228 (GRCm39)	R124L	possibly damaging	Het
Psmd1	T	G	1: 86,064,817 (GRCm39)	Y950D	probably damaging	Het
Ptprr	A	T	10: 116,024,119 (GRCm39)	L250F	possibly damaging	Het
Rabgef1	T	A	5: 130,237,554 (GRCm39)	M208K	possibly damaging	Het
Rps6ka2	A	G	17: 7,437,793 (GRCm39)	Y17C	probably damaging	Het
Scart2	T	A	7: 139,877,806 (GRCm39)	D929E	probably damaging	Het
Sec23ip	T	A	7: 128,363,226 (GRCm39)	C463S	probably damaging	Het
Serpina3n	A	G	12: 104,379,710 (GRCm39)	T368A	probably damaging	Het
Sez6l	C	T	5: 112,609,083 (GRCm39)	A589T	probably benign	Het
Smok2b	G	A	17: 13,453,637 (GRCm39)		probably null	Het
Spag5	T	A	11: 78,192,823 (GRCm39)	Y52N	possibly damaging	Het
Tenm3	G	A	8: 48,788,548 (GRCm39)	S494L	unknown	Het
Top3b	T	C	16: 16,701,299 (GRCm39)	Y204H	probably damaging	Het
Trim43b	C	T	9: 88,973,452 (GRCm39)	V94M	possibly damaging	Het
Trps1	T	G	15: 50,524,658 (GRCm39)	I1091L	probably damaging	Het
Ttk	G	A	9: 83,725,741 (GRCm39)	R221Q	probably damaging	Het
Ttn	A	C	2: 76,549,466 (GRCm39)	M31737R	probably damaging	Het
Uso1	T	A	5: 92,335,125 (GRCm39)	L495*	probably null	Het
Usp19	A	G	9: 108,372,284 (GRCm39)	D447G	possibly damaging	Het
Zdhhc2	A	G	8: 40,920,563 (GRCm39)	E274G	probably damaging	Het
Zfp106	T	A	2: 120,350,935 (GRCm39)	Y1595F	probably damaging	Het
Zfp932	A	T	5: 110,157,520 (GRCm39)	H406L	probably damaging	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
R4648:Kif7	UTSW	7	79,358,939 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTGCGAGCCTTCTCCAAAG -3'
(R):5'- GGATCAGCAACTGGAGTCAG -3'

Sequencing Primer
(F):5'- TTCTCCAAAGCAGCCCAGG -3'
(R):5'- TCTGCCCAGAAGAGCCAG -3'

Posted On

2022-01-20