Mutagenetix > Incidental Mutations

Incidental Mutation 'R6276:Kndc1'

507645

Institutional Source

Beutler Lab

Gene Symbol

Kndc1

Ensembl Gene

ENSMUSG00000066129

Gene Name

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

Synonyms

B830014K08Rik, 2410012C07Rik, very-kind, VKIND

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139921063 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 756 (A756E)

Ref Sequence

ENSEMBL: ENSMUSP00000050586 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000053445
AA Change: A756E

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

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: A756E

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

Meta Mutation Damage Score

0.1432

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360		probably null	Het
Ager	T	C	17: 34,598,754	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578		probably null	Het
Gm6811	T	A	17: 21,093,983		noncoding transcript	Het
Gm6811	T	G	17: 21,094,690		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405	L1592P	possibly damaging	Het
Krt12	A	T	11: 99,421,902	C105*	probably null	Het
Lama1	G	A	17: 67,784,088		probably null	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839		probably null	Het
Map2	T	C	1: 66,399,419	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767		probably null	Het
Pcdhb11	G	A	18: 37,421,760	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449		probably benign	Het
Phactr3	G	A	2: 178,279,019	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,323,203		probably benign	Het
Prodh2	A	G	7: 30,506,651	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Smn1	A	G	13: 100,127,995	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604		probably null	Het
Zscan2	A	G	7: 80,875,809	N426S	probably benign	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
IGL01099:Kndc1	APN	7	139920784	missense	probably damaging	1.00
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
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
R7934:Kndc1	UTSW	7	139921486	missense	probably benign	0.02
R8011:Kndc1	UTSW	7	139910620	missense	possibly damaging	0.90
R8062:Kndc1	UTSW	7	139918844	missense	probably benign	0.01
R8134:Kndc1	UTSW	7	139901369	splice site	probably null
R8197:Kndc1	UTSW	7	139913531	missense	probably damaging	1.00
R8350:Kndc1	UTSW	7	139924045	missense	probably damaging	1.00
R8399:Kndc1	UTSW	7	139913518	missense	probably damaging	1.00
R8400:Kndc1	UTSW	7	139913518	missense	probably damaging	1.00
R8447:Kndc1	UTSW	7	139901205	missense	probably damaging	1.00
R8534:Kndc1	UTSW	7	139923753	missense	probably benign	0.27
R8735:Kndc1	UTSW	7	139910214	missense	probably benign	0.00
R8816:Kndc1	UTSW	7	139937996	missense	probably damaging	1.00
Z1177:Kndc1	UTSW	7	139921912	missense	possibly damaging	0.63
Z1186:Kndc1	UTSW	7	139910813	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTGTTACCAGGTGAGTGTCCC -3'
(R):5'- CTTACATGGGTGTCGAGAGC -3'

Sequencing Primer
(F):5'- AGGTGACCCCTCCTGAGTTC -3'
(R):5'- GCCCTGGGAGCACAGTG -3'

Posted On

2018-03-15