Mutagenetix > Incidental Mutation

Incidental Mutation 'R0349:Kndc1'

36081

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

038556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0349 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

139894696-139941537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139910304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 241 (F241L)

Ref Sequence

ENSEMBL: ENSMUSP00000113856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053445] [ENSMUST00000121839]

AlphaFold

Q0KK55

Predicted Effect

probably benign
Transcript: ENSMUST00000053445
AA Change: F241L

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

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129
AA Change: F241L

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

probably benign
Transcript: ENSMUST00000121839
AA Change: F241L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113856
Gene: ENSMUSG00000066129
AA Change: F241L

Domain	Start	End	E-Value	Type
KIND	37	217	4.66e-65	SMART
Blast:KIND	381	454	2e-10	BLAST
low complexity region	455	465	N/A	INTRINSIC
Blast:KIND	466	539	7e-32	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154782

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
A1cf	A	T	19: 31,932,662	S285C	possibly damaging	Het
Abcc9	A	T	6: 142,664,625	N604K	probably benign	Het
Adgrl3	A	G	5: 81,771,644	T1192A	probably damaging	Het
Aldh1l2	A	T	10: 83,490,614	Y800N	probably damaging	Het
Ano3	A	T	2: 110,661,487	V865D	probably damaging	Het
App	A	T	16: 85,013,680	L545Q	probably damaging	Het
Atp10a	A	G	7: 58,803,467	D798G	probably damaging	Het
B3galnt2	T	C	13: 13,991,474	V318A	probably benign	Het
BC005561	T	C	5: 104,519,976	L788P	possibly damaging	Het
Clcn3	T	A	8: 60,941,348	D49V	possibly damaging	Het
Clcn6	T	A	4: 148,024,194	K126M	possibly damaging	Het
Cntln	T	A	4: 84,996,485	S510T	probably damaging	Het
Csk	A	C	9: 57,628,194	C290W	probably damaging	Het
Dmxl1	T	A	18: 49,879,282	M1502K	probably damaging	Het
Dpy19l2	T	A	9: 24,695,922	N81I	possibly damaging	Het
Dpyd	T	A	3: 118,917,099	C385*	probably null	Het
Dst	G	A	1: 34,199,553	V1765I	probably benign	Het
Eif5b	A	G	1: 38,032,366	S459G	probably benign	Het
Fam105a	T	A	15: 27,664,790	I27L	probably benign	Het
Fam83d	A	G	2: 158,779,848	I160V	possibly damaging	Het
Fat3	A	G	9: 16,031,180	F1299L	probably damaging	Het
Fmn1	A	G	2: 113,365,796	I614V	unknown	Het
Fsd1l	T	A	4: 53,679,854	V184E	probably damaging	Het
Fyco1	A	G	9: 123,797,662	V1328A	probably damaging	Het
Ganab	T	A	19: 8,911,652	N572K	probably null	Het
Gbp10	T	A	5: 105,221,076	D299V	possibly damaging	Het
Gm13078	T	G	4: 143,727,059	W246G	probably benign	Het
Gpr83	T	G	9: 14,868,267	L205R	probably damaging	Het
Hapln2	G	A	3: 88,023,629	P152S	probably damaging	Het
Htatip2	T	C	7: 49,773,392	Y232H	probably benign	Het
Itga2b	C	T	11: 102,467,426	V158I	probably damaging	Het
Kansl3	T	C	1: 36,351,783	D390G	probably damaging	Het
Kcnh2	T	C	5: 24,351,237	D16G	probably benign	Het
Kctd8	A	T	5: 69,341,010	F98I	probably damaging	Het
Kif21b	A	T	1: 136,149,311	E357V	probably damaging	Het
Kmt5c	C	T	7: 4,746,595	R371C	probably damaging	Het
Lrba	A	G	3: 86,540,005	D2052G	probably damaging	Het
Lsr	T	A	7: 30,959,273	I54F	probably damaging	Het
Matk	G	T	10: 81,258,494	L28F	probably benign	Het
Mdn1	T	C	4: 32,750,318	L4429P	probably damaging	Het
Med29	CCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGC	7: 28,392,510		probably benign	Het
Msln	G	T	17: 25,750,276	Q407K	possibly damaging	Het
Msr1	C	T	8: 39,581,827	G428R	probably damaging	Het
Myof	A	G	19: 37,910,969	I1040T	probably damaging	Het
Nckap5	A	G	1: 126,026,434	S794P	probably benign	Het
Nfkbiz	C	T	16: 55,818,991		probably null	Het
Nr2c1	C	T	10: 94,195,182	S535L	probably damaging	Het
Olfr1448	A	T	19: 12,919,935	C125S	probably damaging	Het
Olfr665	A	T	7: 104,880,992	D95V	possibly damaging	Het
Olfr747	G	A	14: 50,681,254	R127C	probably benign	Het
Opn3	A	C	1: 175,692,304	L78R	probably damaging	Het
Pcdhb9	A	G	18: 37,402,579	N542S	probably damaging	Het
Pdc	T	A	1: 150,333,427	N220K	probably benign	Het
Pde6c	A	T	19: 38,162,349	N569Y	probably damaging	Het
Pgm2	A	T	4: 99,963,617	K219M	probably damaging	Het
Pitpnb	C	T	5: 111,347,126	T99M	possibly damaging	Het
Pou6f2	T	A	13: 18,152,004	Q71L	probably damaging	Het
Prkd1	C	A	12: 50,366,356	L677F	probably damaging	Het
Ranbp17	T	C	11: 33,500,689	I78V	probably benign	Het
Rnft2	T	A	5: 118,201,385	K362M	possibly damaging	Het
Rprd1a	T	A	18: 24,506,847	E259V	possibly damaging	Het
Scara3	A	T	14: 65,931,781	I129N	probably damaging	Het
Scgb1a1	A	T	19: 9,085,389		probably null	Het
Sec16b	A	T	1: 157,532,176		probably null	Het
Slc18a1	A	T	8: 69,072,101	M167K	probably damaging	Het
Slc6a15	C	T	10: 103,418,225	A674V	probably benign	Het
Slc6a3	T	C	13: 73,567,557	F437S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Stag1	T	A	9: 100,776,784	N141K	probably damaging	Het
Sun2	T	C	15: 79,730,232	E321G	probably damaging	Het
Taar2	C	A	10: 23,941,429	T289K	possibly damaging	Het
Taar2	T	C	10: 23,941,509	Y316H	probably benign	Het
Tbcd	T	A	11: 121,602,983		probably null	Het
Tecr	G	A	8: 83,572,275	T106I	probably damaging	Het
Tmem60	T	G	5: 20,886,630	V131G	probably benign	Het
Uimc1	A	G	13: 55,075,991	V156A	probably benign	Het
Usp28	G	A	9: 49,010,281	W266*	probably null	Het
Vmn2r17	T	A	5: 109,428,336	S358T	probably damaging	Het
Wwc2	T	A	8: 47,868,666	Y471F	unknown	Het
Ythdc1	C	T	5: 86,835,720	R675C	probably damaging	Het
Zfp30	T	C	7: 29,793,604	S428P	probably damaging	Het
Zfp462	T	A	4: 55,008,768	C245S	probably benign	Het
Zscan30	T	C	18: 23,971,398		noncoding transcript	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
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
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
R8883:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R8899:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R8961:Kndc1	UTSW	7	139924061	missense	possibly damaging	0.95
R8961:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9002:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9010:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9065:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9066:Kndc1	UTSW	7	139927795	missense	possibly damaging	0.89
R9223:Kndc1	UTSW	7	139921441	missense	possibly damaging	0.89
R9230:Kndc1	UTSW	7	139920684	missense	probably damaging	1.00
R9291:Kndc1	UTSW	7	139895224	missense	possibly damaging	0.55
R9441:Kndc1	UTSW	7	139921476	missense	probably damaging	0.99
R9476:Kndc1	UTSW	7	139930118	missense	probably benign	0.00
R9510:Kndc1	UTSW	7	139930118	missense	probably benign	0.00
R9518:Kndc1	UTSW	7	139939914	missense	probably damaging	1.00
R9758:Kndc1	UTSW	7	139920704	missense	possibly damaging	0.71
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'- GGGAGACCTAGAAACCTCCACTCAG -3'
(R):5'- ATCCAGGACAAGGTCAGCCAGC -3'

Sequencing Primer
(F):5'- TCTGGAGCCTATGCTAAGGG -3'
(R):5'- AAGGTCAGCCAGCCCTTC -3'

Posted On

2013-05-09