Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Kif7'

243636

Institutional Source

Beutler Lab

Gene Symbol

Kif7

Ensembl Gene

ENSMUSG00000050382

Gene Name

kinesin family member 7

Synonyms

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79347846-79365468 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79361337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 118 (G118D)

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: G118D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382
AA Change: G118D

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: G118D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382
AA Change: G118D

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: G118D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382
AA Change: G118D

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: G118D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382
AA Change: G118D

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,671,537 (GRCm39)	D24E	probably damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Rpe65	A	G	3: 159,321,208 (GRCm39)	Y340C	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Usp8	A	G	2: 126,600,488 (GRCm39)	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	probably null	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
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
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'- AGGATTCCCAAGTCTTCTCACC -3'
(R):5'- GCTTGAAGTCTCCAATTCTGC -3'

Sequencing Primer
(F):5'- TCACCAACATTTCCCCGATCATC -3'
(R):5'- TATCCTGGAGCACGGCCTAG -3'

Posted On

2014-10-16