Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01099:Kndc1'

51529

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kndc1

Ensembl Gene

ENSMUSG00000066129

Gene Name

kinase non-catalytic C-lobe domain (KIND) containing 1

Synonyms

B830014K08Rik, 2410012C07Rik, very-kind, VKIND

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01099

Quality Score

Status

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139920784 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 688 (H688Q)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053445]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053445
AA Change: H688Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: H688Q

Domain	Start	End	E-Value	Type
KIND	37	217	4.66e-65	SMART
Blast:KIND	381	454	2e-10	BLAST
KIND	456	620	1.22e-50	SMART
low complexity region	658	670	N/A	INTRINSIC
low complexity region	755	771	N/A	INTRINSIC
low complexity region	792	801	N/A	INTRINSIC
low complexity region	949	965	N/A	INTRINSIC
coiled coil region	1121	1151	N/A	INTRINSIC
Pfam:RasGEF_N	1242	1341	2.2e-17	PFAM
Pfam:RasGEF	1464	1672	3.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156941

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	A	T	13: 105,109,360	H143L	probably benign	Het
Abca8a	G	A	11: 110,074,205		probably benign	Het
Adam28	A	G	14: 68,637,329		probably null	Het
Adcy10	A	G	1: 165,539,842	I560M	probably benign	Het
Alpl	G	A	4: 137,743,313		probably benign	Het
Ank1	G	A	8: 23,108,249	G753D	probably damaging	Het
Arhgef28	A	T	13: 97,953,972		probably benign	Het
Bmp7	A	T	2: 172,875,262	C329S	probably damaging	Het
Capn13	T	C	17: 73,351,509	D188G	probably damaging	Het
Car10	G	A	11: 93,578,690	E164K	possibly damaging	Het
Cfhr1	T	A	1: 139,547,759		probably benign	Het
Col11a1	C	T	3: 114,112,041	R562*	probably null	Het
Colec12	C	T	18: 9,848,826	R335C	probably damaging	Het
Cyb561d2	C	T	9: 107,540,289		probably null	Het
D430042O09Rik	T	A	7: 125,865,320	H1286Q	probably damaging	Het
Epb41l3	A	G	17: 69,210,193	D72G	possibly damaging	Het
Etl4	T	C	2: 20,807,111	L1335P	probably benign	Het
F5	T	G	1: 164,194,334	N1459K	probably damaging	Het
Fam161a	T	C	11: 23,015,894		probably benign	Het
Flnc	G	A	6: 29,433,618	V54M	probably damaging	Het
Fndc3b	T	C	3: 27,463,817	I607V	probably benign	Het
Fscb	A	G	12: 64,472,101	S864P	unknown	Het
Glod4	T	A	11: 76,239,550	K36*	probably null	Het
Gm6619	G	A	6: 131,490,430	R86Q	possibly damaging	Het
Gm7052	T	C	17: 22,039,725		probably benign	Het
Gyg	A	T	3: 20,151,047	M119K	probably benign	Het
Ifit2	A	T	19: 34,573,302	I81F	probably damaging	Het
Insr	T	C	8: 3,258,682	Y118C	probably damaging	Het
Kcnh3	T	C	15: 99,239,736	S771P	probably benign	Het
Mybpc2	A	G	7: 44,516,167	C330R	probably damaging	Het
Naa50	A	T	16: 44,156,469	N23I	probably damaging	Het
Olfr544	T	A	7: 102,484,478	D214V	probably damaging	Het
Olfr76	A	G	19: 12,119,876	S279P	probably damaging	Het
Olfr894	T	C	9: 38,219,743	S307P	probably benign	Het
Olfr912	T	C	9: 38,582,077	S267P	probably benign	Het
Pfkp	A	T	13: 6,603,390		probably benign	Het
Phlda2	G	A	7: 143,502,139		probably null	Het
Plxnd1	C	A	6: 115,969,945	V823L	probably benign	Het
Ppil2	T	A	16: 17,091,212	M368L	probably damaging	Het
Prpf40a	T	A	2: 53,141,835	H794L	probably benign	Het
Ripor2	A	T	13: 24,701,207	H436L	probably benign	Het
Rnf138	T	A	18: 21,020,913	C159S	possibly damaging	Het
Scn7a	A	T	2: 66,684,238	V1064D	probably damaging	Het
Slc12a2	T	A	18: 57,906,020	C557*	probably null	Het
Slc1a6	T	C	10: 78,788,997	S79P	possibly damaging	Het
Snapin	G	A	3: 90,490,602		probably benign	Het
Tdp1	A	T	12: 99,915,445		probably benign	Het
Tigar	G	T	6: 127,088,145	A180E	probably benign	Het
Trav6-2	A	T	14: 52,667,665	T48S	probably benign	Het
Ttn	A	G	2: 76,728,432	Y29702H	probably damaging	Het
Ush1c	A	G	7: 46,205,262	S689P	probably damaging	Het
Vmn1r40	A	T	6: 89,714,596	I132F	probably damaging	Het
Vmn1r85	T	A	7: 13,084,534	K228*	probably null	Het
Wdr33	C	A	18: 31,906,789		probably benign	Het
Ybx2	A	T	11: 69,940,730	Q136L	probably damaging	Het

Other mutations in Kndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Kndc1	APN	7	139901988	splice site	probably benign
IGL01061:Kndc1	APN	7	139922694	missense	probably benign	0.00
IGL01522:Kndc1	APN	7	139913972	splice site	probably benign
IGL01767:Kndc1	APN	7	139930046	missense	probably damaging	1.00
IGL01884:Kndc1	APN	7	139914194	missense	probably damaging	1.00
IGL01932:Kndc1	APN	7	139923790	missense	probably damaging	0.98
IGL02133:Kndc1	APN	7	139920767	missense	probably benign	0.19
IGL02411:Kndc1	APN	7	139921913	critical splice donor site	probably null
IGL02472:Kndc1	APN	7	139910901	missense	probably benign	0.01
IGL02537:Kndc1	APN	7	139910410	missense	probably benign	0.01
IGL02708:Kndc1	APN	7	139901181	missense	probably damaging	1.00
IGL03115:Kndc1	APN	7	139921509	missense	probably benign	0.28
IGL03160:Kndc1	APN	7	139920689	nonsense	probably null
IGL03138:Kndc1	UTSW	7	139939878	missense	possibly damaging	0.89
PIT4142001:Kndc1	UTSW	7	139923776	frame shift	probably null
PIT4696001:Kndc1	UTSW	7	139932917	missense	probably damaging	1.00
R0349:Kndc1	UTSW	7	139910304	missense	probably benign	0.00
R0384:Kndc1	UTSW	7	139910599	missense	possibly damaging	0.85
R0415:Kndc1	UTSW	7	139930124	missense	probably damaging	1.00
R0421:Kndc1	UTSW	7	139908996	missense	probably damaging	1.00
R0487:Kndc1	UTSW	7	139914023	missense	probably null	0.19
R0530:Kndc1	UTSW	7	139901237	missense	probably damaging	1.00
R0905:Kndc1	UTSW	7	139923735	missense	possibly damaging	0.94
R1434:Kndc1	UTSW	7	139922684	missense	probably damaging	1.00
R1608:Kndc1	UTSW	7	139927408	missense	possibly damaging	0.80
R1644:Kndc1	UTSW	7	139930756	missense	probably damaging	1.00
R1835:Kndc1	UTSW	7	139927711	missense	probably damaging	0.99
R2012:Kndc1	UTSW	7	139921280	missense	possibly damaging	0.90
R2102:Kndc1	UTSW	7	139930761	missense	probably benign	0.02
R2103:Kndc1	UTSW	7	139921234	missense	probably benign	0.01
R2128:Kndc1	UTSW	7	139930112	missense	probably damaging	1.00
R2516:Kndc1	UTSW	7	139921822	missense	probably damaging	1.00
R3030:Kndc1	UTSW	7	139901207	missense	probably damaging	1.00
R3617:Kndc1	UTSW	7	139902060	splice site	probably benign
R3747:Kndc1	UTSW	7	139927904	critical splice donor site	probably null
R3848:Kndc1	UTSW	7	139908977	missense	probably damaging	1.00
R4028:Kndc1	UTSW	7	139930028	missense	probably damaging	0.98
R4043:Kndc1	UTSW	7	139924129	missense	probably benign	0.06
R4044:Kndc1	UTSW	7	139924129	missense	probably benign	0.06
R4095:Kndc1	UTSW	7	139937025	missense	possibly damaging	0.49
R4289:Kndc1	UTSW	7	139910882	missense	probably benign	0.01
R4478:Kndc1	UTSW	7	139920684	missense	probably damaging	1.00
R4514:Kndc1	UTSW	7	139910286	missense	probably benign	0.00
R4540:Kndc1	UTSW	7	139921427	nonsense	probably null
R4584:Kndc1	UTSW	7	139901243	missense	probably damaging	1.00
R4693:Kndc1	UTSW	7	139921779	missense	probably benign	0.02
R4705:Kndc1	UTSW	7	139930123	missense	possibly damaging	0.81
R4773:Kndc1	UTSW	7	139924031	nonsense	probably null
R4859:Kndc1	UTSW	7	139921905	missense	probably benign	0.03
R5004:Kndc1	UTSW	7	139932879	nonsense	probably null
R5037:Kndc1	UTSW	7	139910455	missense	possibly damaging	0.52
R5322:Kndc1	UTSW	7	139936809	missense	probably damaging	1.00
R5428:Kndc1	UTSW	7	139908962	missense	probably damaging	0.99
R5503:Kndc1	UTSW	7	139931889	missense	probably damaging	1.00
R5506:Kndc1	UTSW	7	139927891	missense	probably damaging	1.00
R5525:Kndc1	UTSW	7	139924111	missense	probably benign	0.00
R5888:Kndc1	UTSW	7	139895217	missense	probably benign	0.00
R5942:Kndc1	UTSW	7	139936879	missense	probably damaging	1.00
R5979:Kndc1	UTSW	7	139939827	missense	probably benign	0.05
R5990:Kndc1	UTSW	7	139927420	missense	probably damaging	0.99
R6038:Kndc1	UTSW	7	139923775	frame shift	probably null
R6076:Kndc1	UTSW	7	139902038	missense	probably damaging	1.00
R6118:Kndc1	UTSW	7	139923802	missense	probably damaging	1.00
R6151:Kndc1	UTSW	7	139921213	missense	probably benign	0.04
R6276:Kndc1	UTSW	7	139921063	missense	probably benign
R6367:Kndc1	UTSW	7	139913506	missense	probably damaging	1.00
R6726:Kndc1	UTSW	7	139922751	critical splice donor site	probably null
R6745:Kndc1	UTSW	7	139920976	missense	probably benign	0.02
R6886:Kndc1	UTSW	7	139913569	missense	probably benign	0.01
R6912:Kndc1	UTSW	7	139910278	missense	probably damaging	0.99
R7070:Kndc1	UTSW	7	139921828	missense	probably damaging	1.00
R7123:Kndc1	UTSW	7	139936836	missense	probably damaging	0.99
R7158:Kndc1	UTSW	7	139931860	missense	possibly damaging	0.48
R7248:Kndc1	UTSW	7	139920783	missense	probably damaging	1.00
R7437:Kndc1	UTSW	7	139909043	missense	probably damaging	1.00
R7564:Kndc1	UTSW	7	139920696	missense	probably benign	0.01
R7570:Kndc1	UTSW	7	139923775	frame shift	probably null
R7625:Kndc1	UTSW	7	139938017	missense	possibly damaging	0.90
R7629:Kndc1	UTSW	7	139895260	missense	probably damaging	1.00
R7726:Kndc1	UTSW	7	139939838	missense	possibly damaging	0.67
R7840:Kndc1	UTSW	7	139923816	missense	probably damaging	1.00
R7859:Kndc1	UTSW	7	139920964	missense	possibly damaging	0.57
R8011:Kndc1	UTSW	7	139910620	missense	possibly damaging	0.90
R8062:Kndc1	UTSW	7	139918844	missense	probably benign	0.01
R8197:Kndc1	UTSW	7	139913531	missense	probably damaging	1.00
Z1177:Kndc1	UTSW	7	139921912	missense	possibly damaging	0.63

Posted On

2013-06-21